Incidental Mutation 'R4825:Stab2'
| ID |
371427 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stab2
|
| Ensembl Gene |
ENSMUSG00000035459 |
| Gene Name |
stabilin 2 |
| Synonyms |
FEEL-2, STAB-2 |
| MMRRC Submission |
042441-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4825 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
86677062-86843889 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 86783011 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 679
(M679K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048309
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035288]
|
| AlphaFold |
Q8R4U0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035288
AA Change: M679K
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000048309
Gene: ENSMUSG00000035459
AA Change: M679K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
EGF
|
119 |
156 |
1.85e0 |
SMART |
|
EGF
|
167 |
201 |
2.43e1 |
SMART |
|
EGF
|
206 |
244 |
1.43e-1 |
SMART |
|
EGF
|
248 |
284 |
3.82e-2 |
SMART |
|
EGF
|
333 |
370 |
2.02e-1 |
SMART |
|
FAS1
|
414 |
515 |
1.06e-8 |
SMART |
|
FAS1
|
561 |
662 |
3.54e-19 |
SMART |
|
EGF
|
746 |
783 |
6.76e-3 |
SMART |
|
EGF
|
836 |
873 |
1.31e0 |
SMART |
|
EGF
|
877 |
917 |
2.99e-4 |
SMART |
|
EGF
|
921 |
960 |
3.51e-1 |
SMART |
|
EGF
|
964 |
1002 |
1.99e0 |
SMART |
|
FAS1
|
1038 |
1138 |
1.73e-13 |
SMART |
|
FAS1
|
1181 |
1276 |
1.83e-12 |
SMART |
|
EGF
|
1354 |
1391 |
6.92e0 |
SMART |
|
EGF
|
1401 |
1435 |
1.11e1 |
SMART |
|
EGF
|
1442 |
1477 |
3.01e0 |
SMART |
|
EGF
|
1481 |
1519 |
1.64e-1 |
SMART |
|
EGF
|
1523 |
1561 |
1.14e0 |
SMART |
|
EGF
|
1565 |
1603 |
5.62e0 |
SMART |
|
FAS1
|
1638 |
1734 |
2.23e-25 |
SMART |
|
FAS1
|
1785 |
1891 |
6.92e-22 |
SMART |
|
EGF
|
1966 |
2006 |
1.95e1 |
SMART |
|
EGF_like
|
1977 |
2017 |
2.46e-1 |
SMART |
|
EGF
|
2016 |
2050 |
1.14e0 |
SMART |
|
EGF
|
2058 |
2089 |
1.56e1 |
SMART |
|
EGF
|
2093 |
2130 |
1.36e1 |
SMART |
|
EGF
|
2134 |
2173 |
2.13e0 |
SMART |
|
LINK
|
2204 |
2298 |
2.08e-29 |
SMART |
|
FAS1
|
2363 |
2455 |
3.19e-12 |
SMART |
|
transmembrane domain
|
2467 |
2489 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 15 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to bind and endocytose ligands such as hyaluronan, low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein has been shown to cycle between the plasma membrane and lysosomes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for knock-out alleles exhibit no gross abnormaities. Mice homozygous for one null allele display elevated serum hyaluronic acid levels and decreased metastasis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 130 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
C |
A |
11: 109,682,498 (GRCm39) |
L229F |
probably benign |
Het |
| A930002H24Rik |
A |
C |
17: 64,170,603 (GRCm39) |
S62A |
unknown |
Het |
| Abca12 |
T |
A |
1: 71,341,844 (GRCm39) |
Q1039L |
possibly damaging |
Het |
| Adgrg5 |
T |
A |
8: 95,668,362 (GRCm39) |
F476I |
possibly damaging |
Het |
| Alms1 |
A |
G |
6: 85,655,227 (GRCm39) |
K2789E |
probably damaging |
Het |
| Arrdc2 |
G |
A |
8: 71,291,921 (GRCm39) |
|
probably null |
Het |
| Atp2b1 |
T |
A |
10: 98,845,426 (GRCm39) |
I743K |
probably damaging |
Het |
| Atp6v1c2 |
C |
T |
12: 17,339,061 (GRCm39) |
G230D |
probably benign |
Het |
| AU040320 |
G |
A |
4: 126,685,586 (GRCm39) |
C54Y |
probably damaging |
Het |
| BC024139 |
C |
T |
15: 76,004,517 (GRCm39) |
V680I |
possibly damaging |
Het |
| Bckdhb |
A |
G |
9: 83,870,958 (GRCm39) |
D156G |
probably damaging |
Het |
| Bltp3a |
G |
A |
17: 28,096,368 (GRCm39) |
A107T |
probably damaging |
Het |
| Canx |
T |
A |
11: 50,199,636 (GRCm39) |
D143V |
probably benign |
Het |
| Ccdc180 |
T |
A |
4: 45,912,794 (GRCm39) |
V591E |
possibly damaging |
Het |
| Ccno |
T |
C |
13: 113,124,633 (GRCm39) |
S68P |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,603,613 (GRCm39) |
E527K |
probably damaging |
Het |
| Cep290 |
T |
A |
10: 100,324,210 (GRCm39) |
D14E |
probably damaging |
Het |
| Cgnl1 |
A |
G |
9: 71,537,806 (GRCm39) |
V1238A |
probably benign |
Het |
| Ciz1 |
C |
T |
2: 32,261,753 (GRCm39) |
A455V |
probably damaging |
Het |
| Coro2b |
T |
A |
9: 62,361,905 (GRCm39) |
Y86F |
probably benign |
Het |
| Csf2ra |
C |
T |
19: 61,214,990 (GRCm39) |
R158Q |
probably benign |
Het |
| Cubn |
A |
T |
2: 13,330,036 (GRCm39) |
I2615N |
probably damaging |
Het |
| Dhx8 |
C |
T |
11: 101,628,996 (GRCm39) |
R129* |
probably null |
Het |
| Disc1 |
T |
A |
8: 125,862,041 (GRCm39) |
M471K |
possibly damaging |
Het |
| Dmxl2 |
G |
T |
9: 54,311,325 (GRCm39) |
L1799I |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,314,031 (GRCm39) |
S4108P |
probably damaging |
Het |
| Ecpas |
G |
A |
4: 58,850,911 (GRCm39) |
L421F |
probably damaging |
Het |
| Ehmt2 |
C |
G |
17: 35,125,940 (GRCm39) |
P211R |
probably benign |
Het |
| Eif4g3 |
A |
G |
4: 137,921,392 (GRCm39) |
D1557G |
probably benign |
Het |
| Epha5 |
T |
C |
5: 84,381,699 (GRCm39) |
D384G |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,811,738 (GRCm39) |
I1274V |
probably damaging |
Het |
| Fhip1a |
G |
A |
3: 85,580,739 (GRCm39) |
P489S |
possibly damaging |
Het |
| Fip1l1 |
G |
A |
5: 74,748,866 (GRCm39) |
|
probably null |
Het |
| Fubp1 |
T |
C |
3: 151,923,527 (GRCm39) |
|
probably null |
Het |
| Glul |
T |
C |
1: 153,778,790 (GRCm39) |
V33A |
probably benign |
Het |
| Gm4846 |
A |
G |
1: 166,319,237 (GRCm39) |
F167S |
probably damaging |
Het |
| Heatr6 |
T |
A |
11: 83,649,148 (GRCm39) |
L168M |
probably damaging |
Het |
| Hif1a |
T |
A |
12: 73,979,175 (GRCm39) |
I233N |
probably damaging |
Het |
| Hivep2 |
T |
A |
10: 14,007,063 (GRCm39) |
H1220Q |
possibly damaging |
Het |
| Igkv8-21 |
T |
C |
6: 70,292,410 (GRCm39) |
I9M |
probably benign |
Het |
| Izumo1 |
T |
A |
7: 45,274,411 (GRCm39) |
C62* |
probably null |
Het |
| Jakmip3 |
G |
A |
7: 138,628,495 (GRCm39) |
E424K |
probably damaging |
Het |
| Klhl2 |
A |
G |
8: 65,205,847 (GRCm39) |
V358A |
probably damaging |
Het |
| Klk10 |
C |
G |
7: 43,433,022 (GRCm39) |
D139E |
probably damaging |
Het |
| Klk14 |
T |
C |
7: 43,341,500 (GRCm39) |
C51R |
probably damaging |
Het |
| Klk1b5 |
T |
G |
7: 43,494,814 (GRCm39) |
I99S |
probably damaging |
Het |
| L3hypdh |
T |
C |
12: 72,124,167 (GRCm39) |
T258A |
probably benign |
Het |
| Lrp5 |
A |
G |
19: 3,664,292 (GRCm39) |
Y812H |
probably damaging |
Het |
| Lrrc40 |
T |
A |
3: 157,766,967 (GRCm39) |
L474* |
probably null |
Het |
| Mkks |
A |
T |
2: 136,722,575 (GRCm39) |
M194K |
probably benign |
Het |
| Mmp20 |
A |
G |
9: 7,654,121 (GRCm39) |
D347G |
probably damaging |
Het |
| Mmp27 |
A |
G |
9: 7,581,195 (GRCm39) |
E460G |
probably damaging |
Het |
| Mms22l |
T |
C |
4: 24,536,226 (GRCm39) |
F605S |
probably damaging |
Het |
| Mpzl3 |
A |
G |
9: 44,979,627 (GRCm39) |
S193G |
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,570,565 (GRCm39) |
T542S |
probably benign |
Het |
| Muc5b |
T |
C |
7: 141,422,202 (GRCm39) |
L4446P |
possibly damaging |
Het |
| Mxi1 |
C |
A |
19: 53,358,769 (GRCm39) |
S131* |
probably null |
Het |
| Nanog |
G |
T |
6: 122,690,299 (GRCm39) |
A210S |
probably benign |
Het |
| Nrcam |
C |
T |
12: 44,622,769 (GRCm39) |
Q988* |
probably null |
Het |
| Nsg1 |
C |
A |
5: 38,316,391 (GRCm39) |
|
probably benign |
Het |
| Ogfod3 |
G |
A |
11: 121,086,027 (GRCm39) |
A189V |
probably benign |
Het |
| Or10g9b |
A |
T |
9: 39,918,038 (GRCm39) |
M69K |
possibly damaging |
Het |
| Or12e9 |
T |
A |
2: 87,202,432 (GRCm39) |
C185* |
probably null |
Het |
| Or4a68 |
A |
G |
2: 89,270,209 (GRCm39) |
V138A |
probably benign |
Het |
| Or4c122 |
T |
C |
2: 89,079,034 (GRCm39) |
|
probably null |
Het |
| Or4c35 |
G |
A |
2: 89,808,497 (GRCm39) |
C125Y |
probably damaging |
Het |
| Or51ai2 |
T |
C |
7: 103,586,710 (GRCm39) |
V41A |
probably benign |
Het |
| Or52b4i |
T |
A |
7: 102,191,587 (GRCm39) |
V148E |
possibly damaging |
Het |
| Or5b111 |
A |
T |
19: 13,291,684 (GRCm39) |
|
probably null |
Het |
| Or7e165 |
T |
G |
9: 19,694,872 (GRCm39) |
S148A |
possibly damaging |
Het |
| Or8b53 |
A |
T |
9: 38,667,703 (GRCm39) |
T240S |
probably damaging |
Het |
| Orc3 |
A |
T |
4: 34,571,774 (GRCm39) |
M665K |
possibly damaging |
Het |
| Pabpc1 |
A |
G |
15: 36,597,255 (GRCm39) |
S591P |
probably damaging |
Het |
| Pacc1 |
A |
T |
1: 191,073,040 (GRCm39) |
I154F |
probably damaging |
Het |
| Parp6 |
T |
A |
9: 59,531,645 (GRCm39) |
|
probably null |
Het |
| Pcdh1 |
T |
C |
18: 38,322,912 (GRCm39) |
M974V |
possibly damaging |
Het |
| Pcdhb22 |
T |
A |
18: 37,653,713 (GRCm39) |
V727E |
possibly damaging |
Het |
| Pex5l |
T |
C |
3: 33,047,134 (GRCm39) |
E272G |
probably damaging |
Het |
| Pglyrp2 |
G |
T |
17: 32,637,235 (GRCm39) |
N264K |
probably benign |
Het |
| Phxr4 |
T |
A |
9: 13,342,882 (GRCm39) |
|
probably benign |
Het |
| Piezo2 |
A |
G |
18: 63,278,025 (GRCm39) |
F293S |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,607,625 (GRCm39) |
D1077G |
probably damaging |
Het |
| Plekhs1 |
A |
G |
19: 56,461,700 (GRCm39) |
|
probably null |
Het |
| Prex1 |
G |
T |
2: 166,427,777 (GRCm39) |
C788* |
probably null |
Het |
| Prrt3 |
A |
T |
6: 113,475,099 (GRCm39) |
M41K |
probably benign |
Het |
| Ptgir |
T |
C |
7: 16,642,768 (GRCm39) |
V326A |
probably damaging |
Het |
| Ptprg |
T |
A |
14: 12,220,654 (GRCm38) |
D455E |
probably damaging |
Het |
| Ptpru |
T |
A |
4: 131,526,914 (GRCm39) |
Q686L |
probably benign |
Het |
| Pxdc1 |
G |
T |
13: 34,814,343 (GRCm39) |
T190K |
probably benign |
Het |
| Rap1b |
A |
T |
10: 117,654,487 (GRCm39) |
C118S |
probably benign |
Het |
| Rapgef2 |
T |
C |
3: 78,990,534 (GRCm39) |
M915V |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rpe65 |
C |
T |
3: 159,330,318 (GRCm39) |
A495V |
probably benign |
Het |
| Samd15 |
A |
G |
12: 87,247,608 (GRCm39) |
T98A |
possibly damaging |
Het |
| Sdk1 |
T |
G |
5: 141,568,049 (GRCm39) |
D82E |
probably benign |
Het |
| Slc26a7 |
T |
C |
4: 14,546,309 (GRCm39) |
D340G |
probably benign |
Het |
| Slc6a15 |
T |
A |
10: 103,253,921 (GRCm39) |
M619K |
probably benign |
Het |
| Slc7a4 |
C |
A |
16: 17,392,385 (GRCm39) |
D350Y |
probably damaging |
Het |
| Slk |
T |
G |
19: 47,608,395 (GRCm39) |
N449K |
probably benign |
Het |
| Spta1 |
A |
T |
1: 174,071,608 (GRCm39) |
|
probably null |
Het |
| Sptbn5 |
A |
T |
2: 119,886,374 (GRCm39) |
|
probably benign |
Het |
| Srd5a2 |
A |
T |
17: 74,354,800 (GRCm39) |
V8D |
probably benign |
Het |
| Srgap3 |
G |
A |
6: 112,704,271 (GRCm39) |
A906V |
probably benign |
Het |
| Stk3 |
T |
C |
15: 35,000,054 (GRCm39) |
I291V |
probably benign |
Het |
| Supt6 |
T |
A |
11: 78,098,960 (GRCm39) |
Q1637L |
possibly damaging |
Het |
| Svil |
T |
C |
18: 5,114,564 (GRCm39) |
F2047S |
probably damaging |
Het |
| Swsap1 |
A |
G |
9: 21,867,284 (GRCm39) |
E76G |
probably benign |
Het |
| Syndig1 |
G |
T |
2: 149,741,473 (GRCm39) |
G20C |
probably damaging |
Het |
| Synj2bp |
A |
T |
12: 81,548,926 (GRCm39) |
N104K |
probably damaging |
Het |
| Synpo2 |
T |
A |
3: 122,908,068 (GRCm39) |
D416V |
probably damaging |
Het |
| Tacc3 |
G |
T |
5: 33,829,357 (GRCm39) |
C620F |
probably damaging |
Het |
| Tanc1 |
A |
G |
2: 59,529,766 (GRCm39) |
E19G |
probably damaging |
Het |
| Tars3 |
C |
T |
7: 65,297,302 (GRCm39) |
A139V |
probably benign |
Het |
| Tbc1d22a |
T |
A |
15: 86,235,935 (GRCm39) |
C365S |
probably damaging |
Het |
| Tdpoz2 |
T |
C |
3: 93,559,381 (GRCm39) |
H197R |
possibly damaging |
Het |
| Tha1 |
A |
T |
11: 117,760,205 (GRCm39) |
N300K |
probably damaging |
Het |
| Tm6sf1 |
T |
A |
7: 81,515,008 (GRCm39) |
F70L |
probably damaging |
Het |
| Tmem132b |
T |
A |
5: 125,860,497 (GRCm39) |
S581T |
probably benign |
Het |
| Tnfsf13 |
G |
T |
11: 69,576,075 (GRCm39) |
S4* |
probably null |
Het |
| Tonsl |
G |
A |
15: 76,517,448 (GRCm39) |
S757L |
probably benign |
Het |
| Trem2 |
G |
T |
17: 48,658,719 (GRCm39) |
R161S |
possibly damaging |
Het |
| Trpm2 |
A |
T |
10: 77,777,007 (GRCm39) |
V430E |
probably damaging |
Het |
| Ttc14 |
T |
A |
3: 33,855,518 (GRCm39) |
D154E |
possibly damaging |
Het |
| Ugt2b37 |
T |
C |
5: 87,398,498 (GRCm39) |
M313V |
possibly damaging |
Het |
| Vmn2r24 |
A |
G |
6: 123,792,739 (GRCm39) |
I689V |
probably benign |
Het |
| Wdr76 |
A |
G |
2: 121,372,975 (GRCm39) |
T601A |
probably benign |
Het |
| Xirp1 |
T |
C |
9: 119,846,069 (GRCm39) |
D938G |
possibly damaging |
Het |
| Zfp608 |
A |
T |
18: 55,031,041 (GRCm39) |
D966E |
probably benign |
Het |
| Zfp957 |
A |
G |
14: 79,451,796 (GRCm39) |
M1T |
probably null |
Het |
| Zkscan16 |
A |
T |
4: 58,957,809 (GRCm39) |
H697L |
possibly damaging |
Het |
|
| Other mutations in Stab2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00091:Stab2
|
APN |
10 |
86,705,070 (GRCm39) |
splice site |
probably null |
|
|
IGL00809:Stab2
|
APN |
10 |
86,684,038 (GRCm39) |
splice site |
probably benign |
|
|
IGL00911:Stab2
|
APN |
10 |
86,805,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01347:Stab2
|
APN |
10 |
86,737,567 (GRCm39) |
splice site |
probably null |
|
|
IGL01411:Stab2
|
APN |
10 |
86,815,872 (GRCm39) |
splice site |
probably benign |
|
|
IGL01503:Stab2
|
APN |
10 |
86,776,477 (GRCm39) |
splice site |
probably benign |
|
|
IGL01599:Stab2
|
APN |
10 |
86,758,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01635:Stab2
|
APN |
10 |
86,816,992 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01640:Stab2
|
APN |
10 |
86,790,035 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01671:Stab2
|
APN |
10 |
86,805,141 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02023:Stab2
|
APN |
10 |
86,707,695 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02075:Stab2
|
APN |
10 |
86,803,514 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02174:Stab2
|
APN |
10 |
86,695,606 (GRCm39) |
splice site |
probably null |
|
|
IGL02600:Stab2
|
APN |
10 |
86,790,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02666:Stab2
|
APN |
10 |
86,686,766 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02668:Stab2
|
APN |
10 |
86,682,027 (GRCm39) |
splice site |
probably benign |
|
|
IGL02709:Stab2
|
APN |
10 |
86,682,029 (GRCm39) |
splice site |
probably benign |
|
|
IGL02728:Stab2
|
APN |
10 |
86,692,420 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02803:Stab2
|
APN |
10 |
86,786,133 (GRCm39) |
splice site |
probably benign |
|
|
IGL02938:Stab2
|
APN |
10 |
86,707,785 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL03033:Stab2
|
APN |
10 |
86,832,667 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03238:Stab2
|
APN |
10 |
86,690,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03402:Stab2
|
APN |
10 |
86,805,165 (GRCm39) |
missense |
probably benign |
0.03 |
|
prospector
|
UTSW |
10 |
86,737,431 (GRCm39) |
splice site |
probably null |
|
|
songbird
|
UTSW |
10 |
86,694,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
3-1:Stab2
|
UTSW |
10 |
86,705,041 (GRCm39) |
missense |
probably damaging |
0.96 |
|
F6893:Stab2
|
UTSW |
10 |
86,691,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
K7371:Stab2
|
UTSW |
10 |
86,779,153 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4142001:Stab2
|
UTSW |
10 |
86,703,039 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
PIT4362001:Stab2
|
UTSW |
10 |
86,697,299 (GRCm39) |
nonsense |
probably null |
|
|
R0015:Stab2
|
UTSW |
10 |
86,679,481 (GRCm39) |
missense |
probably benign |
|
|
R0254:Stab2
|
UTSW |
10 |
86,733,824 (GRCm39) |
missense |
probably benign |
|
|
R0310:Stab2
|
UTSW |
10 |
86,803,477 (GRCm39) |
splice site |
probably benign |
|
|
R0333:Stab2
|
UTSW |
10 |
86,677,491 (GRCm39) |
missense |
probably benign |
|
|
R0391:Stab2
|
UTSW |
10 |
86,783,008 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0400:Stab2
|
UTSW |
10 |
86,708,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0433:Stab2
|
UTSW |
10 |
86,679,355 (GRCm39) |
splice site |
probably benign |
|
|
R0440:Stab2
|
UTSW |
10 |
86,785,792 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0743:Stab2
|
UTSW |
10 |
86,723,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0847:Stab2
|
UTSW |
10 |
86,805,735 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0883:Stab2
|
UTSW |
10 |
86,760,314 (GRCm39) |
splice site |
probably benign |
|
|
R1078:Stab2
|
UTSW |
10 |
86,742,997 (GRCm39) |
splice site |
probably null |
|
|
R1118:Stab2
|
UTSW |
10 |
86,721,582 (GRCm39) |
splice site |
probably null |
|
|
R1119:Stab2
|
UTSW |
10 |
86,695,619 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1179:Stab2
|
UTSW |
10 |
86,786,165 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1440:Stab2
|
UTSW |
10 |
86,697,231 (GRCm39) |
splice site |
probably null |
|
|
R1550:Stab2
|
UTSW |
10 |
86,714,790 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1616:Stab2
|
UTSW |
10 |
86,721,582 (GRCm39) |
splice site |
probably null |
|
|
R1728:Stab2
|
UTSW |
10 |
86,773,903 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1768:Stab2
|
UTSW |
10 |
86,838,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1772:Stab2
|
UTSW |
10 |
86,790,098 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1776:Stab2
|
UTSW |
10 |
86,793,680 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1784:Stab2
|
UTSW |
10 |
86,773,903 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1892:Stab2
|
UTSW |
10 |
86,773,913 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1957:Stab2
|
UTSW |
10 |
86,697,334 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1972:Stab2
|
UTSW |
10 |
86,796,180 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1975:Stab2
|
UTSW |
10 |
86,732,360 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1976:Stab2
|
UTSW |
10 |
86,732,360 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1996:Stab2
|
UTSW |
10 |
86,838,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2085:Stab2
|
UTSW |
10 |
86,790,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2149:Stab2
|
UTSW |
10 |
86,700,904 (GRCm39) |
nonsense |
probably null |
|
|
R2169:Stab2
|
UTSW |
10 |
86,723,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2201:Stab2
|
UTSW |
10 |
86,776,503 (GRCm39) |
missense |
probably benign |
0.22 |
|
R2296:Stab2
|
UTSW |
10 |
86,790,338 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2297:Stab2
|
UTSW |
10 |
86,790,338 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2298:Stab2
|
UTSW |
10 |
86,790,338 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2326:Stab2
|
UTSW |
10 |
86,790,338 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2434:Stab2
|
UTSW |
10 |
86,805,183 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2519:Stab2
|
UTSW |
10 |
86,770,704 (GRCm39) |
splice site |
probably benign |
|
|
R2696:Stab2
|
UTSW |
10 |
86,697,363 (GRCm39) |
missense |
probably benign |
0.45 |
|
R2883:Stab2
|
UTSW |
10 |
86,803,550 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2923:Stab2
|
UTSW |
10 |
86,697,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3711:Stab2
|
UTSW |
10 |
86,702,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3787:Stab2
|
UTSW |
10 |
86,805,141 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R3834:Stab2
|
UTSW |
10 |
86,785,776 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R3970:Stab2
|
UTSW |
10 |
86,714,750 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3979:Stab2
|
UTSW |
10 |
86,699,320 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4003:Stab2
|
UTSW |
10 |
86,693,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4088:Stab2
|
UTSW |
10 |
86,758,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4151:Stab2
|
UTSW |
10 |
86,838,847 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4190:Stab2
|
UTSW |
10 |
86,714,808 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4556:Stab2
|
UTSW |
10 |
86,803,543 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4773:Stab2
|
UTSW |
10 |
86,743,235 (GRCm39) |
nonsense |
probably null |
|
|
R4865:Stab2
|
UTSW |
10 |
86,679,364 (GRCm39) |
splice site |
probably null |
|
|
R4871:Stab2
|
UTSW |
10 |
86,778,099 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4943:Stab2
|
UTSW |
10 |
86,790,026 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4981:Stab2
|
UTSW |
10 |
86,796,087 (GRCm39) |
missense |
probably benign |
|
|
R4994:Stab2
|
UTSW |
10 |
86,785,771 (GRCm39) |
missense |
probably benign |
|
|
R4999:Stab2
|
UTSW |
10 |
86,773,773 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5061:Stab2
|
UTSW |
10 |
86,743,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5072:Stab2
|
UTSW |
10 |
86,699,422 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5073:Stab2
|
UTSW |
10 |
86,699,422 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5074:Stab2
|
UTSW |
10 |
86,699,422 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5134:Stab2
|
UTSW |
10 |
86,707,674 (GRCm39) |
splice site |
probably null |
|
|
R5213:Stab2
|
UTSW |
10 |
86,743,061 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5508:Stab2
|
UTSW |
10 |
86,796,143 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5530:Stab2
|
UTSW |
10 |
86,783,026 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5540:Stab2
|
UTSW |
10 |
86,683,989 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5839:Stab2
|
UTSW |
10 |
86,708,555 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5949:Stab2
|
UTSW |
10 |
86,805,713 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6015:Stab2
|
UTSW |
10 |
86,773,906 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6019:Stab2
|
UTSW |
10 |
86,838,886 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6116:Stab2
|
UTSW |
10 |
86,743,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6131:Stab2
|
UTSW |
10 |
86,719,642 (GRCm39) |
splice site |
probably null |
|
|
R6209:Stab2
|
UTSW |
10 |
86,758,867 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6243:Stab2
|
UTSW |
10 |
86,743,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6433:Stab2
|
UTSW |
10 |
86,737,431 (GRCm39) |
splice site |
probably null |
|
|
R6787:Stab2
|
UTSW |
10 |
86,754,948 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6841:Stab2
|
UTSW |
10 |
86,778,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6873:Stab2
|
UTSW |
10 |
86,697,230 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7025:Stab2
|
UTSW |
10 |
86,686,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7043:Stab2
|
UTSW |
10 |
86,706,110 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7047:Stab2
|
UTSW |
10 |
86,694,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7107:Stab2
|
UTSW |
10 |
86,741,456 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7214:Stab2
|
UTSW |
10 |
86,735,705 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7271:Stab2
|
UTSW |
10 |
86,838,972 (GRCm39) |
splice site |
probably null |
|
|
R7291:Stab2
|
UTSW |
10 |
86,782,084 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7336:Stab2
|
UTSW |
10 |
86,805,049 (GRCm39) |
nonsense |
probably null |
|
|
R7432:Stab2
|
UTSW |
10 |
86,721,547 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7580:Stab2
|
UTSW |
10 |
86,705,028 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7622:Stab2
|
UTSW |
10 |
86,709,766 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7629:Stab2
|
UTSW |
10 |
86,719,646 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7658:Stab2
|
UTSW |
10 |
86,816,999 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7798:Stab2
|
UTSW |
10 |
86,793,776 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7835:Stab2
|
UTSW |
10 |
86,708,483 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7845:Stab2
|
UTSW |
10 |
86,832,758 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7863:Stab2
|
UTSW |
10 |
86,808,745 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7885:Stab2
|
UTSW |
10 |
86,714,776 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7904:Stab2
|
UTSW |
10 |
86,790,056 (GRCm39) |
nonsense |
probably null |
|
|
R7947:Stab2
|
UTSW |
10 |
86,681,897 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7963:Stab2
|
UTSW |
10 |
86,683,887 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8014:Stab2
|
UTSW |
10 |
86,686,767 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8021:Stab2
|
UTSW |
10 |
86,741,403 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8024:Stab2
|
UTSW |
10 |
86,681,916 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8097:Stab2
|
UTSW |
10 |
86,704,959 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8281:Stab2
|
UTSW |
10 |
86,709,728 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8462:Stab2
|
UTSW |
10 |
86,803,598 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8670:Stab2
|
UTSW |
10 |
86,776,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8692:Stab2
|
UTSW |
10 |
86,808,794 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8744:Stab2
|
UTSW |
10 |
86,805,213 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8745:Stab2
|
UTSW |
10 |
86,805,213 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8782:Stab2
|
UTSW |
10 |
86,735,685 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8875:Stab2
|
UTSW |
10 |
86,832,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8978:Stab2
|
UTSW |
10 |
86,785,782 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9141:Stab2
|
UTSW |
10 |
86,704,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9248:Stab2
|
UTSW |
10 |
86,727,481 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9326:Stab2
|
UTSW |
10 |
86,791,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9426:Stab2
|
UTSW |
10 |
86,704,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9568:Stab2
|
UTSW |
10 |
86,699,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9627:Stab2
|
UTSW |
10 |
86,793,704 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9635:Stab2
|
UTSW |
10 |
86,686,651 (GRCm39) |
nonsense |
probably null |
|
|
R9648:Stab2
|
UTSW |
10 |
86,692,561 (GRCm39) |
frame shift |
probably null |
|
|
R9649:Stab2
|
UTSW |
10 |
86,692,561 (GRCm39) |
frame shift |
probably null |
|
|
R9650:Stab2
|
UTSW |
10 |
86,692,561 (GRCm39) |
frame shift |
probably null |
|
|
R9726:Stab2
|
UTSW |
10 |
86,790,095 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9756:Stab2
|
UTSW |
10 |
86,803,553 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9786:Stab2
|
UTSW |
10 |
86,757,997 (GRCm39) |
missense |
probably benign |
0.03 |
|
RF061:Stab2
|
UTSW |
10 |
86,702,622 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
X0023:Stab2
|
UTSW |
10 |
86,758,062 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
X0025:Stab2
|
UTSW |
10 |
86,723,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Stab2
|
UTSW |
10 |
86,785,778 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Stab2
|
UTSW |
10 |
86,732,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACCAGAACCTTGGCTCAG -3'
(R):5'- AACTACAAGCATCTGCCTGGG -3'
Sequencing Primer
(F):5'- AACCTTGGCTCAGGGCTGATG -3'
(R):5'- AAGCATCTGCCTGGGGATGG -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation