Incidental Mutation 'R1891:Stab1'
| ID |
211536 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stab1
|
| Ensembl Gene |
ENSMUSG00000042286 |
| Gene Name |
stabilin 1 |
| Synonyms |
MS-1 |
| MMRRC Submission |
039911-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1891 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
30860970-30890598 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 30863287 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 2133
(R2133L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046199
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036618]
[ENSMUST00000090212]
[ENSMUST00000159249]
[ENSMUST00000160024]
[ENSMUST00000227794]
[ENSMUST00000227096]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036618
AA Change: R2133L
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000046199
Gene: ENSMUSG00000042286
AA Change: R2133L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
EGF
|
112 |
149 |
6.65e-2 |
SMART |
|
EGF
|
160 |
194 |
2.28e0 |
SMART |
|
EGF
|
199 |
232 |
1.4e0 |
SMART |
|
EGF
|
236 |
272 |
4.97e-1 |
SMART |
|
EGF
|
276 |
319 |
1.95e1 |
SMART |
|
EGF_like
|
321 |
357 |
5.03e1 |
SMART |
|
low complexity region
|
400 |
413 |
N/A |
INTRINSIC |
|
Blast:FAS1
|
414 |
501 |
2e-52 |
BLAST |
|
FAS1
|
543 |
645 |
1.35e-24 |
SMART |
|
EGF_like
|
780 |
817 |
5.45e1 |
SMART |
|
EGF
|
822 |
861 |
1.08e-1 |
SMART |
|
EGF
|
865 |
904 |
3.15e-3 |
SMART |
|
EGF
|
908 |
947 |
1.3e1 |
SMART |
|
EGF
|
951 |
989 |
1.47e1 |
SMART |
|
FAS1
|
1023 |
1122 |
1.3e-17 |
SMART |
|
FAS1
|
1165 |
1257 |
2.94e0 |
SMART |
|
EGF
|
1332 |
1369 |
1.4e0 |
SMART |
|
EGF
|
1379 |
1413 |
1.88e-1 |
SMART |
|
EGF
|
1420 |
1455 |
6.02e0 |
SMART |
|
EGF
|
1459 |
1497 |
3.82e-2 |
SMART |
|
EGF
|
1501 |
1540 |
2.05e-2 |
SMART |
|
EGF
|
1544 |
1583 |
2.25e1 |
SMART |
|
FAS1
|
1616 |
1712 |
1.61e-22 |
SMART |
|
FAS1
|
1763 |
1868 |
2.12e-17 |
SMART |
|
EGF
|
1970 |
2007 |
1.26e-2 |
SMART |
|
EGF
|
2017 |
2051 |
1.61e0 |
SMART |
|
EGF
|
2059 |
2090 |
2.45e0 |
SMART |
|
EGF
|
2094 |
2131 |
3.46e0 |
SMART |
|
EGF
|
2135 |
2174 |
3.82e-2 |
SMART |
|
LINK
|
2206 |
2301 |
8.55e-49 |
SMART |
|
FAS1
|
2367 |
2462 |
2.06e-6 |
SMART |
|
transmembrane domain
|
2476 |
2498 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090212
|
| SMART Domains |
Protein: ENSMUSP00000087680
Gene: ENSMUSG00000071547
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:5_nucleotid
|
1 |
367 |
1.5e-123 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159208
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159249
|
| SMART Domains |
Protein: ENSMUSP00000125542
Gene: ENSMUSG00000042286
| Domain | Start | End | E-Value | Type |
|---|
|
EGF
|
110 |
147 |
1.26e-2 |
SMART |
|
EGF
|
157 |
191 |
1.61e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159480
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160024
|
| SMART Domains |
Protein: ENSMUSP00000125239
Gene: ENSMUSG00000042286
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:FAS1
|
1 |
32 |
5e-14 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160720
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161631
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162763
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162169
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161129
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227794
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227096
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226975
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227690
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.7%
|
| 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, 16 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 endocytose ligands such as low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein rapidly cycles between the plasma membrane and early endosomes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit no physical or behavioral abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 96 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
C |
10: 79,840,874 (GRCm39) |
I921T |
possibly damaging |
Het |
| Abca8a |
T |
C |
11: 109,982,433 (GRCm39) |
K3R |
probably benign |
Het |
| Adgrl3 |
A |
T |
5: 81,659,891 (GRCm39) |
D152V |
probably damaging |
Het |
| Akap6 |
A |
T |
12: 53,188,958 (GRCm39) |
D2124V |
possibly damaging |
Het |
| Akt1 |
A |
G |
12: 112,626,009 (GRCm39) |
F88L |
probably damaging |
Het |
| Ankrd24 |
T |
C |
10: 81,479,342 (GRCm39) |
|
probably benign |
Het |
| Arid4b |
T |
A |
13: 14,310,821 (GRCm39) |
N141K |
possibly damaging |
Het |
| Cacna1c |
C |
A |
6: 118,753,480 (GRCm39) |
D219Y |
probably damaging |
Het |
| Ccdc113 |
A |
G |
8: 96,267,544 (GRCm39) |
K170E |
probably damaging |
Het |
| Ceacam9 |
A |
G |
7: 16,457,880 (GRCm39) |
E136G |
probably damaging |
Het |
| Cfap43 |
A |
G |
19: 47,802,380 (GRCm39) |
L333P |
probably damaging |
Het |
| Chl1 |
A |
G |
6: 103,691,544 (GRCm39) |
D1062G |
possibly damaging |
Het |
| Cimip4 |
T |
A |
15: 78,262,952 (GRCm39) |
D234V |
probably damaging |
Het |
| Ckb |
TCCACCACCA |
TCCACCA |
12: 111,636,079 (GRCm39) |
|
probably benign |
Het |
| Clpp |
T |
A |
17: 57,298,307 (GRCm39) |
V91E |
probably damaging |
Het |
| Cndp1 |
A |
T |
18: 84,637,758 (GRCm39) |
H325Q |
probably null |
Het |
| Cngb3 |
A |
G |
4: 19,366,446 (GRCm39) |
N169S |
probably benign |
Het |
| Cog6 |
A |
C |
3: 52,890,601 (GRCm39) |
I613R |
probably benign |
Het |
| Creb3l1 |
A |
G |
2: 91,817,385 (GRCm39) |
L376P |
probably damaging |
Het |
| Cry2 |
A |
T |
2: 92,243,985 (GRCm39) |
V396D |
possibly damaging |
Het |
| Cxxc5 |
A |
G |
18: 35,992,318 (GRCm39) |
M240V |
possibly damaging |
Het |
| Defa28 |
G |
A |
8: 22,073,801 (GRCm39) |
C68Y |
probably damaging |
Het |
| Ecd |
A |
G |
14: 20,388,227 (GRCm39) |
I187T |
probably damaging |
Het |
| Erg28 |
A |
G |
12: 85,862,962 (GRCm39) |
S117P |
probably benign |
Het |
| Ergic2 |
A |
T |
6: 148,084,577 (GRCm39) |
C319S |
probably damaging |
Het |
| Ess2 |
C |
T |
16: 17,725,644 (GRCm39) |
W183* |
probably null |
Het |
| Evc2 |
A |
C |
5: 37,549,423 (GRCm39) |
D773A |
probably damaging |
Het |
| Fam151b |
T |
A |
13: 92,586,678 (GRCm39) |
T252S |
probably benign |
Het |
| Fbxo28 |
A |
T |
1: 182,145,389 (GRCm39) |
M233K |
probably benign |
Het |
| Fbxw26 |
T |
G |
9: 109,551,232 (GRCm39) |
D355A |
probably benign |
Het |
| Gm4884 |
G |
C |
7: 40,692,539 (GRCm39) |
E169D |
possibly damaging |
Het |
| Hk2 |
C |
T |
6: 82,726,264 (GRCm39) |
R94Q |
probably benign |
Het |
| Hps4 |
G |
A |
5: 112,517,422 (GRCm39) |
|
probably null |
Het |
| Hspg2 |
T |
A |
4: 137,292,801 (GRCm39) |
D4126E |
probably damaging |
Het |
| Kif13a |
T |
C |
13: 47,082,695 (GRCm39) |
E48G |
possibly damaging |
Het |
| Krt31 |
T |
A |
11: 99,938,634 (GRCm39) |
N320Y |
probably damaging |
Het |
| Lca5 |
T |
C |
9: 83,277,661 (GRCm39) |
Y561C |
probably damaging |
Het |
| Lrrk1 |
G |
A |
7: 65,929,048 (GRCm39) |
L1195F |
probably damaging |
Het |
| Ly6g6d |
A |
C |
17: 35,293,269 (GRCm39) |
Y25* |
probably null |
Het |
| Map3k13 |
T |
G |
16: 21,729,836 (GRCm39) |
M489R |
probably damaging |
Het |
| Mcm6 |
C |
T |
1: 128,263,547 (GRCm39) |
R658H |
probably damaging |
Het |
| Mecp2 |
C |
T |
X: 73,080,781 (GRCm39) |
A79T |
probably damaging |
Het |
| Mitf |
A |
G |
6: 97,918,237 (GRCm39) |
T94A |
probably benign |
Het |
| Mpo |
T |
A |
11: 87,692,106 (GRCm39) |
L513* |
probably null |
Het |
| Mst1r |
T |
A |
9: 107,790,661 (GRCm39) |
N722K |
probably damaging |
Het |
| Mthfd1l |
T |
A |
10: 3,982,284 (GRCm39) |
L497* |
probably null |
Het |
| Mtus1 |
C |
T |
8: 41,537,362 (GRCm39) |
S118N |
probably damaging |
Het |
| Mybbp1a |
C |
T |
11: 72,336,863 (GRCm39) |
T565I |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,291,395 (GRCm39) |
R1181K |
probably benign |
Het |
| Nbas |
T |
C |
12: 13,440,973 (GRCm39) |
M1101T |
possibly damaging |
Het |
| Odad3 |
G |
T |
9: 21,906,677 (GRCm39) |
|
probably null |
Het |
| Or2y1b |
T |
C |
11: 49,208,684 (GRCm39) |
F104L |
probably benign |
Het |
| Or4f60 |
A |
T |
2: 111,902,739 (GRCm39) |
L63Q |
probably damaging |
Het |
| Or52l1 |
A |
T |
7: 104,829,754 (GRCm39) |
Y270* |
probably null |
Het |
| Or5ae1 |
T |
A |
7: 84,565,461 (GRCm39) |
V158D |
possibly damaging |
Het |
| Or6c33 |
T |
C |
10: 129,853,439 (GRCm39) |
S70P |
probably damaging |
Het |
| Or7a40 |
T |
A |
16: 16,491,441 (GRCm39) |
I135F |
probably damaging |
Het |
| Or7g20 |
T |
C |
9: 18,947,274 (GRCm39) |
L285S |
probably damaging |
Het |
| Or8b12b |
T |
A |
9: 37,684,163 (GRCm39) |
D69E |
possibly damaging |
Het |
| Oxct2b |
A |
G |
4: 123,010,938 (GRCm39) |
D286G |
probably benign |
Het |
| Pax5 |
A |
T |
4: 44,691,859 (GRCm39) |
V129E |
probably damaging |
Het |
| Pax7 |
G |
A |
4: 139,511,937 (GRCm39) |
R215C |
probably damaging |
Het |
| Pcdh7 |
A |
T |
5: 57,878,217 (GRCm39) |
I591F |
probably damaging |
Het |
| Pcdhb22 |
T |
C |
18: 37,652,357 (GRCm39) |
V275A |
probably damaging |
Het |
| Pkp3 |
C |
T |
7: 140,663,969 (GRCm39) |
|
probably null |
Het |
| Plekhb1 |
A |
G |
7: 100,304,599 (GRCm39) |
L35P |
probably damaging |
Het |
| Pole |
T |
A |
5: 110,480,408 (GRCm39) |
F1993Y |
probably damaging |
Het |
| Pramel28 |
A |
T |
4: 143,693,235 (GRCm39) |
V81E |
probably damaging |
Het |
| Prdx1 |
T |
C |
4: 116,556,451 (GRCm39) |
*200R |
probably null |
Het |
| Prkdc |
C |
A |
16: 15,543,300 (GRCm39) |
T1777N |
probably benign |
Het |
| Prss59 |
A |
T |
6: 40,902,967 (GRCm39) |
M135K |
possibly damaging |
Het |
| Ptpn14 |
G |
A |
1: 189,530,850 (GRCm39) |
V106M |
probably damaging |
Het |
| Ptpn23 |
T |
C |
9: 110,222,868 (GRCm39) |
E63G |
possibly damaging |
Het |
| Qser1 |
A |
C |
2: 104,620,444 (GRCm39) |
S123A |
probably benign |
Het |
| Rbm11 |
A |
G |
16: 75,397,675 (GRCm39) |
N202D |
possibly damaging |
Het |
| Robo3 |
T |
A |
9: 37,339,351 (GRCm39) |
Y212F |
probably damaging |
Het |
| Sde2 |
G |
A |
1: 180,687,573 (GRCm39) |
S153N |
probably benign |
Het |
| Serpinb1c |
T |
A |
13: 33,068,235 (GRCm39) |
D179V |
probably benign |
Het |
| Skint6 |
T |
C |
4: 112,703,893 (GRCm39) |
D994G |
possibly damaging |
Het |
| Sorbs1 |
A |
G |
19: 40,381,904 (GRCm39) |
S46P |
probably damaging |
Het |
| St8sia4 |
T |
C |
1: 95,519,433 (GRCm39) |
T352A |
possibly damaging |
Het |
| Stk11ip |
T |
C |
1: 75,509,060 (GRCm39) |
C730R |
probably benign |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tle4 |
A |
T |
19: 14,522,150 (GRCm39) |
|
probably null |
Het |
| Tmem200a |
T |
A |
10: 25,869,970 (GRCm39) |
N100Y |
probably damaging |
Het |
| Tnnt2 |
A |
T |
1: 135,768,597 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,706,302 (GRCm39) |
|
probably benign |
Het |
| Ubac1 |
A |
G |
2: 25,904,974 (GRCm39) |
V88A |
probably benign |
Het |
| Urgcp |
T |
C |
11: 5,666,910 (GRCm39) |
E476G |
probably benign |
Het |
| Vmn1r201 |
G |
A |
13: 22,659,425 (GRCm39) |
R213H |
probably benign |
Het |
| Vmn2r84 |
C |
T |
10: 130,221,938 (GRCm39) |
V761M |
possibly damaging |
Het |
| Vwde |
A |
T |
6: 13,187,454 (GRCm39) |
Y678N |
probably damaging |
Het |
| Wnk2 |
C |
A |
13: 49,206,200 (GRCm39) |
E1865* |
probably null |
Het |
| Zc3h3 |
A |
C |
15: 75,628,780 (GRCm39) |
M838R |
possibly damaging |
Het |
| Zfp959 |
T |
A |
17: 56,204,604 (GRCm39) |
C211S |
probably damaging |
Het |
|
| Other mutations in Stab1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00087:Stab1
|
APN |
14 |
30,883,314 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00323:Stab1
|
APN |
14 |
30,861,263 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL00515:Stab1
|
APN |
14 |
30,881,686 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL00844:Stab1
|
APN |
14 |
30,869,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01374:Stab1
|
APN |
14 |
30,869,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01384:Stab1
|
APN |
14 |
30,872,365 (GRCm39) |
missense |
probably benign |
|
|
IGL01431:Stab1
|
APN |
14 |
30,870,952 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01787:Stab1
|
APN |
14 |
30,861,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02128:Stab1
|
APN |
14 |
30,872,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02138:Stab1
|
APN |
14 |
30,865,470 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02256:Stab1
|
APN |
14 |
30,863,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02340:Stab1
|
APN |
14 |
30,862,367 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02507:Stab1
|
APN |
14 |
30,861,167 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02695:Stab1
|
APN |
14 |
30,881,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02755:Stab1
|
APN |
14 |
30,861,595 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02870:Stab1
|
APN |
14 |
30,861,354 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02884:Stab1
|
APN |
14 |
30,872,100 (GRCm39) |
splice site |
probably null |
|
|
IGL03035:Stab1
|
APN |
14 |
30,869,726 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03267:Stab1
|
APN |
14 |
30,864,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03286:Stab1
|
APN |
14 |
30,881,283 (GRCm39) |
splice site |
probably benign |
|
|
IGL03366:Stab1
|
APN |
14 |
30,872,220 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL03412:Stab1
|
APN |
14 |
30,876,364 (GRCm39) |
missense |
probably benign |
0.42 |
|
R0906_Stab1_335
|
UTSW |
14 |
30,867,206 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5086_Stab1_467
|
UTSW |
14 |
30,881,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02835:Stab1
|
UTSW |
14 |
30,867,981 (GRCm39) |
critical splice donor site |
probably null |
|
|
K7371:Stab1
|
UTSW |
14 |
30,872,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0053:Stab1
|
UTSW |
14 |
30,862,644 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R0053:Stab1
|
UTSW |
14 |
30,862,644 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R0066:Stab1
|
UTSW |
14 |
30,879,027 (GRCm39) |
splice site |
probably benign |
|
|
R0066:Stab1
|
UTSW |
14 |
30,879,027 (GRCm39) |
splice site |
probably benign |
|
|
R0363:Stab1
|
UTSW |
14 |
30,880,965 (GRCm39) |
splice site |
probably benign |
|
|
R0387:Stab1
|
UTSW |
14 |
30,870,058 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0391:Stab1
|
UTSW |
14 |
30,865,375 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0513:Stab1
|
UTSW |
14 |
30,870,902 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0546:Stab1
|
UTSW |
14 |
30,861,507 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0825:Stab1
|
UTSW |
14 |
30,874,557 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0906:Stab1
|
UTSW |
14 |
30,867,206 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0963:Stab1
|
UTSW |
14 |
30,869,231 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1219:Stab1
|
UTSW |
14 |
30,862,578 (GRCm39) |
splice site |
probably null |
|
|
R1234:Stab1
|
UTSW |
14 |
30,872,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1260:Stab1
|
UTSW |
14 |
30,873,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1400:Stab1
|
UTSW |
14 |
30,861,787 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1405:Stab1
|
UTSW |
14 |
30,870,958 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1405:Stab1
|
UTSW |
14 |
30,870,958 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1440:Stab1
|
UTSW |
14 |
30,873,647 (GRCm39) |
nonsense |
probably null |
|
|
R1472:Stab1
|
UTSW |
14 |
30,863,543 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1474:Stab1
|
UTSW |
14 |
30,871,818 (GRCm39) |
missense |
probably benign |
0.45 |
|
R1475:Stab1
|
UTSW |
14 |
30,885,785 (GRCm39) |
missense |
probably benign |
|
|
R1509:Stab1
|
UTSW |
14 |
30,873,541 (GRCm39) |
splice site |
probably benign |
|
|
R1551:Stab1
|
UTSW |
14 |
30,882,456 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1572:Stab1
|
UTSW |
14 |
30,872,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1633:Stab1
|
UTSW |
14 |
30,872,337 (GRCm39) |
splice site |
probably null |
|
|
R1719:Stab1
|
UTSW |
14 |
30,867,985 (GRCm39) |
nonsense |
probably null |
|
|
R1733:Stab1
|
UTSW |
14 |
30,867,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1763:Stab1
|
UTSW |
14 |
30,890,373 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1808:Stab1
|
UTSW |
14 |
30,863,101 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1816:Stab1
|
UTSW |
14 |
30,879,422 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1853:Stab1
|
UTSW |
14 |
30,862,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1984:Stab1
|
UTSW |
14 |
30,872,605 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1998:Stab1
|
UTSW |
14 |
30,884,110 (GRCm39) |
nonsense |
probably null |
|
|
R2165:Stab1
|
UTSW |
14 |
30,890,392 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2191:Stab1
|
UTSW |
14 |
30,881,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2191:Stab1
|
UTSW |
14 |
30,864,757 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2233:Stab1
|
UTSW |
14 |
30,883,837 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2303:Stab1
|
UTSW |
14 |
30,868,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2496:Stab1
|
UTSW |
14 |
30,883,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2504:Stab1
|
UTSW |
14 |
30,884,997 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2519:Stab1
|
UTSW |
14 |
30,876,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2926:Stab1
|
UTSW |
14 |
30,883,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4025:Stab1
|
UTSW |
14 |
30,876,909 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4113:Stab1
|
UTSW |
14 |
30,890,436 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4258:Stab1
|
UTSW |
14 |
30,876,629 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4588:Stab1
|
UTSW |
14 |
30,879,402 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4644:Stab1
|
UTSW |
14 |
30,862,444 (GRCm39) |
unclassified |
probably benign |
|
|
R4660:Stab1
|
UTSW |
14 |
30,876,872 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4801:Stab1
|
UTSW |
14 |
30,863,328 (GRCm39) |
nonsense |
probably null |
|
|
R4802:Stab1
|
UTSW |
14 |
30,863,328 (GRCm39) |
nonsense |
probably null |
|
|
R4870:Stab1
|
UTSW |
14 |
30,864,000 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4872:Stab1
|
UTSW |
14 |
30,862,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4881:Stab1
|
UTSW |
14 |
30,865,629 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4941:Stab1
|
UTSW |
14 |
30,873,528 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5061:Stab1
|
UTSW |
14 |
30,885,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5086:Stab1
|
UTSW |
14 |
30,881,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5086:Stab1
|
UTSW |
14 |
30,865,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5087:Stab1
|
UTSW |
14 |
30,881,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5092:Stab1
|
UTSW |
14 |
30,867,812 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5102:Stab1
|
UTSW |
14 |
30,869,974 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5107:Stab1
|
UTSW |
14 |
30,885,752 (GRCm39) |
splice site |
probably null |
|
|
R5195:Stab1
|
UTSW |
14 |
30,862,478 (GRCm39) |
unclassified |
probably benign |
|
|
R5217:Stab1
|
UTSW |
14 |
30,881,476 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5285:Stab1
|
UTSW |
14 |
30,865,433 (GRCm39) |
unclassified |
probably benign |
|
|
R5327:Stab1
|
UTSW |
14 |
30,883,793 (GRCm39) |
nonsense |
probably null |
|
|
R5647:Stab1
|
UTSW |
14 |
30,879,397 (GRCm39) |
nonsense |
probably null |
|
|
R5696:Stab1
|
UTSW |
14 |
30,882,178 (GRCm39) |
missense |
probably benign |
|
|
R5996:Stab1
|
UTSW |
14 |
30,861,508 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6016:Stab1
|
UTSW |
14 |
30,880,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6017:Stab1
|
UTSW |
14 |
30,863,501 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6174:Stab1
|
UTSW |
14 |
30,884,476 (GRCm39) |
nonsense |
probably null |
|
|
R6366:Stab1
|
UTSW |
14 |
30,863,395 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6754:Stab1
|
UTSW |
14 |
30,863,038 (GRCm39) |
missense |
probably benign |
|
|
R6788:Stab1
|
UTSW |
14 |
30,861,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6898:Stab1
|
UTSW |
14 |
30,880,920 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7124:Stab1
|
UTSW |
14 |
30,882,824 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7145:Stab1
|
UTSW |
14 |
30,867,030 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7153:Stab1
|
UTSW |
14 |
30,882,541 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7213:Stab1
|
UTSW |
14 |
30,865,630 (GRCm39) |
missense |
probably benign |
|
|
R7215:Stab1
|
UTSW |
14 |
30,882,754 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7319:Stab1
|
UTSW |
14 |
30,862,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7389:Stab1
|
UTSW |
14 |
30,869,196 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7400:Stab1
|
UTSW |
14 |
30,879,341 (GRCm39) |
missense |
probably null |
1.00 |
|
R7427:Stab1
|
UTSW |
14 |
30,881,216 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7428:Stab1
|
UTSW |
14 |
30,881,216 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7484:Stab1
|
UTSW |
14 |
30,882,274 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7568:Stab1
|
UTSW |
14 |
30,874,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7574:Stab1
|
UTSW |
14 |
30,876,622 (GRCm39) |
missense |
probably benign |
|
|
R7619:Stab1
|
UTSW |
14 |
30,867,194 (GRCm39) |
missense |
probably benign |
|
|
R7623:Stab1
|
UTSW |
14 |
30,862,578 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7721:Stab1
|
UTSW |
14 |
30,863,413 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7869:Stab1
|
UTSW |
14 |
30,876,429 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7936:Stab1
|
UTSW |
14 |
30,879,372 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7956:Stab1
|
UTSW |
14 |
30,881,981 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7973:Stab1
|
UTSW |
14 |
30,881,590 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8059:Stab1
|
UTSW |
14 |
30,882,198 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8116:Stab1
|
UTSW |
14 |
30,880,910 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8304:Stab1
|
UTSW |
14 |
30,870,911 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8368:Stab1
|
UTSW |
14 |
30,870,368 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8495:Stab1
|
UTSW |
14 |
30,877,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8513:Stab1
|
UTSW |
14 |
30,871,747 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8544:Stab1
|
UTSW |
14 |
30,885,008 (GRCm39) |
nonsense |
probably null |
|
|
R8671:Stab1
|
UTSW |
14 |
30,879,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8885:Stab1
|
UTSW |
14 |
30,883,771 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8974:Stab1
|
UTSW |
14 |
30,882,779 (GRCm39) |
missense |
probably benign |
|
|
R9022:Stab1
|
UTSW |
14 |
30,882,226 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9059:Stab1
|
UTSW |
14 |
30,876,805 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9226:Stab1
|
UTSW |
14 |
30,867,812 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9272:Stab1
|
UTSW |
14 |
30,867,298 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9388:Stab1
|
UTSW |
14 |
30,876,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9401:Stab1
|
UTSW |
14 |
30,883,069 (GRCm39) |
missense |
probably benign |
|
|
R9433:Stab1
|
UTSW |
14 |
30,865,531 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9450:Stab1
|
UTSW |
14 |
30,884,896 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9505:Stab1
|
UTSW |
14 |
30,877,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9570:Stab1
|
UTSW |
14 |
30,864,638 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9624:Stab1
|
UTSW |
14 |
30,863,345 (GRCm39) |
missense |
|
|
|
R9694:Stab1
|
UTSW |
14 |
30,876,901 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9723:Stab1
|
UTSW |
14 |
30,885,848 (GRCm39) |
missense |
probably benign |
0.10 |
|
X0026:Stab1
|
UTSW |
14 |
30,884,148 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Z1176:Stab1
|
UTSW |
14 |
30,872,617 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Stab1
|
UTSW |
14 |
30,863,995 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTAGACACTGCAGCCCATC -3'
(R):5'- TGACTTGCAGGTAGGATGC -3'
Sequencing Primer
(F):5'- TACGTGGCATTCACAGCG -3'
(R):5'- AGGTAGGATGCCCTGGATC -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation