Incidental Mutation 'R4825:Abca12'
| ID |
371344 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abca12
|
| Ensembl Gene |
ENSMUSG00000050296 |
| Gene Name |
ATP-binding cassette, sub-family A member 12 |
| Synonyms |
4833417A11Rik, 4832428G11Rik |
| MMRRC Submission |
042441-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4825 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
71282249-71454069 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 71341844 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 1039
(Q1039L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084523
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087268]
|
| AlphaFold |
E9Q876 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087268
AA Change: Q1039L
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000084523
Gene: ENSMUSG00000050296
AA Change: Q1039L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
24 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
246 |
259 |
N/A |
INTRINSIC |
|
Pfam:ABC2_membrane_3
|
885 |
1267 |
2.9e-24 |
PFAM |
|
AAA
|
1370 |
1554 |
4.2e-10 |
SMART |
|
low complexity region
|
1717 |
1735 |
N/A |
INTRINSIC |
|
Pfam:ABC2_membrane_3
|
1744 |
2206 |
9.6e-35 |
PFAM |
|
AAA
|
2282 |
2467 |
4.61e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188752
|
| 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.] The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily, which is the only major ABC subfamily found exclusively in multicellular eukaryotes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit neonatal lethality associated with defective skin development and abnormal lung morphology. [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 |
| 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 |
| Stab2 |
A |
T |
10: 86,783,011 (GRCm39) |
M679K |
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 Abca12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Abca12
|
APN |
1 |
71,342,700 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL00556:Abca12
|
APN |
1 |
71,392,916 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00813:Abca12
|
APN |
1 |
71,392,921 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL00835:Abca12
|
APN |
1 |
71,341,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00921:Abca12
|
APN |
1 |
71,324,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01011:Abca12
|
APN |
1 |
71,302,791 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01066:Abca12
|
APN |
1 |
71,392,889 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01082:Abca12
|
APN |
1 |
71,353,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01310:Abca12
|
APN |
1 |
71,323,315 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01360:Abca12
|
APN |
1 |
71,325,648 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01585:Abca12
|
APN |
1 |
71,359,045 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01608:Abca12
|
APN |
1 |
71,298,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01687:Abca12
|
APN |
1 |
71,306,769 (GRCm39) |
splice site |
probably benign |
|
|
IGL01700:Abca12
|
APN |
1 |
71,319,549 (GRCm39) |
missense |
probably benign |
|
|
IGL01723:Abca12
|
APN |
1 |
71,353,327 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01804:Abca12
|
APN |
1 |
71,315,342 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01982:Abca12
|
APN |
1 |
71,385,857 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL02136:Abca12
|
APN |
1 |
71,286,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02172:Abca12
|
APN |
1 |
71,341,817 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02222:Abca12
|
APN |
1 |
71,322,045 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL02266:Abca12
|
APN |
1 |
71,307,360 (GRCm39) |
nonsense |
probably null |
|
|
IGL02449:Abca12
|
APN |
1 |
71,440,908 (GRCm39) |
splice site |
probably null |
|
|
IGL02471:Abca12
|
APN |
1 |
71,297,357 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02496:Abca12
|
APN |
1 |
71,327,712 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL02552:Abca12
|
APN |
1 |
71,333,906 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02795:Abca12
|
APN |
1 |
71,327,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03000:Abca12
|
APN |
1 |
71,360,959 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03031:Abca12
|
APN |
1 |
71,353,183 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03131:Abca12
|
APN |
1 |
71,385,861 (GRCm39) |
missense |
probably benign |
|
|
IGL03260:Abca12
|
APN |
1 |
71,323,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03324:Abca12
|
APN |
1 |
71,353,167 (GRCm39) |
missense |
probably benign |
|
|
IGL03408:Abca12
|
APN |
1 |
71,303,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0016:Abca12
|
UTSW |
1 |
71,333,959 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0016:Abca12
|
UTSW |
1 |
71,333,959 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0121:Abca12
|
UTSW |
1 |
71,298,945 (GRCm39) |
splice site |
probably null |
|
|
R0172:Abca12
|
UTSW |
1 |
71,318,561 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0196:Abca12
|
UTSW |
1 |
71,298,972 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0400:Abca12
|
UTSW |
1 |
71,298,935 (GRCm39) |
splice site |
probably benign |
|
|
R0466:Abca12
|
UTSW |
1 |
71,341,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0616:Abca12
|
UTSW |
1 |
71,341,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0668:Abca12
|
UTSW |
1 |
71,302,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0928:Abca12
|
UTSW |
1 |
71,388,333 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1036:Abca12
|
UTSW |
1 |
71,302,569 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1086:Abca12
|
UTSW |
1 |
71,334,220 (GRCm39) |
splice site |
probably benign |
|
|
R1300:Abca12
|
UTSW |
1 |
71,283,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1337:Abca12
|
UTSW |
1 |
71,333,978 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1356:Abca12
|
UTSW |
1 |
71,342,112 (GRCm39) |
splice site |
probably benign |
|
|
R1372:Abca12
|
UTSW |
1 |
71,334,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1434:Abca12
|
UTSW |
1 |
71,348,959 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1580:Abca12
|
UTSW |
1 |
71,305,124 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1675:Abca12
|
UTSW |
1 |
71,302,570 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1773:Abca12
|
UTSW |
1 |
71,327,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1829:Abca12
|
UTSW |
1 |
71,334,188 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1922:Abca12
|
UTSW |
1 |
71,359,083 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1927:Abca12
|
UTSW |
1 |
71,283,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2115:Abca12
|
UTSW |
1 |
71,283,930 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2146:Abca12
|
UTSW |
1 |
71,302,647 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2148:Abca12
|
UTSW |
1 |
71,302,647 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2149:Abca12
|
UTSW |
1 |
71,302,647 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2150:Abca12
|
UTSW |
1 |
71,302,647 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2299:Abca12
|
UTSW |
1 |
71,297,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2392:Abca12
|
UTSW |
1 |
71,297,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2571:Abca12
|
UTSW |
1 |
71,289,044 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3077:Abca12
|
UTSW |
1 |
71,306,764 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3078:Abca12
|
UTSW |
1 |
71,306,764 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3705:Abca12
|
UTSW |
1 |
71,324,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3800:Abca12
|
UTSW |
1 |
71,305,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3905:Abca12
|
UTSW |
1 |
71,318,616 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3905:Abca12
|
UTSW |
1 |
71,307,389 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3962:Abca12
|
UTSW |
1 |
71,313,674 (GRCm39) |
splice site |
probably null |
|
|
R4082:Abca12
|
UTSW |
1 |
71,306,622 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4131:Abca12
|
UTSW |
1 |
71,359,030 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4214:Abca12
|
UTSW |
1 |
71,327,856 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4403:Abca12
|
UTSW |
1 |
71,306,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4524:Abca12
|
UTSW |
1 |
71,342,076 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4615:Abca12
|
UTSW |
1 |
71,369,493 (GRCm39) |
missense |
probably benign |
|
|
R4617:Abca12
|
UTSW |
1 |
71,369,493 (GRCm39) |
missense |
probably benign |
|
|
R4714:Abca12
|
UTSW |
1 |
71,360,609 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4809:Abca12
|
UTSW |
1 |
71,318,015 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4810:Abca12
|
UTSW |
1 |
71,342,771 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4990:Abca12
|
UTSW |
1 |
71,334,098 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5013:Abca12
|
UTSW |
1 |
71,303,926 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5026:Abca12
|
UTSW |
1 |
71,356,383 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5064:Abca12
|
UTSW |
1 |
71,340,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5188:Abca12
|
UTSW |
1 |
71,330,651 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5234:Abca12
|
UTSW |
1 |
71,302,823 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5267:Abca12
|
UTSW |
1 |
71,374,933 (GRCm39) |
splice site |
probably benign |
|
|
R5302:Abca12
|
UTSW |
1 |
71,323,111 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5441:Abca12
|
UTSW |
1 |
71,334,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5451:Abca12
|
UTSW |
1 |
71,334,076 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5526:Abca12
|
UTSW |
1 |
71,331,605 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5529:Abca12
|
UTSW |
1 |
71,304,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5615:Abca12
|
UTSW |
1 |
71,346,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5649:Abca12
|
UTSW |
1 |
71,330,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5800:Abca12
|
UTSW |
1 |
71,360,591 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5807:Abca12
|
UTSW |
1 |
71,342,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5878:Abca12
|
UTSW |
1 |
71,385,792 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5987:Abca12
|
UTSW |
1 |
71,297,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6280:Abca12
|
UTSW |
1 |
71,311,619 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6316:Abca12
|
UTSW |
1 |
71,353,118 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6337:Abca12
|
UTSW |
1 |
71,334,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6383:Abca12
|
UTSW |
1 |
71,286,343 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6564:Abca12
|
UTSW |
1 |
71,349,009 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R6582:Abca12
|
UTSW |
1 |
71,297,384 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6756:Abca12
|
UTSW |
1 |
71,298,512 (GRCm39) |
splice site |
probably null |
|
|
R6876:Abca12
|
UTSW |
1 |
71,302,667 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6999:Abca12
|
UTSW |
1 |
71,356,321 (GRCm39) |
nonsense |
probably null |
|
|
R7145:Abca12
|
UTSW |
1 |
71,346,212 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7272:Abca12
|
UTSW |
1 |
71,287,591 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7285:Abca12
|
UTSW |
1 |
71,388,314 (GRCm39) |
nonsense |
probably null |
|
|
R7421:Abca12
|
UTSW |
1 |
71,286,295 (GRCm39) |
nonsense |
probably null |
|
|
R7531:Abca12
|
UTSW |
1 |
71,286,332 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7592:Abca12
|
UTSW |
1 |
71,327,836 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7687:Abca12
|
UTSW |
1 |
71,297,341 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7690:Abca12
|
UTSW |
1 |
71,353,313 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7709:Abca12
|
UTSW |
1 |
71,374,887 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7736:Abca12
|
UTSW |
1 |
71,359,123 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7754:Abca12
|
UTSW |
1 |
71,342,046 (GRCm39) |
missense |
probably benign |
|
|
R7761:Abca12
|
UTSW |
1 |
71,369,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7808:Abca12
|
UTSW |
1 |
71,313,793 (GRCm39) |
splice site |
probably null |
|
|
R7816:Abca12
|
UTSW |
1 |
71,331,588 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7821:Abca12
|
UTSW |
1 |
71,298,950 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7827:Abca12
|
UTSW |
1 |
71,453,837 (GRCm39) |
start gained |
probably benign |
|
|
R7829:Abca12
|
UTSW |
1 |
71,331,580 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7863:Abca12
|
UTSW |
1 |
71,332,656 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8053:Abca12
|
UTSW |
1 |
71,388,328 (GRCm39) |
nonsense |
probably null |
|
|
R8093:Abca12
|
UTSW |
1 |
71,319,552 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8120:Abca12
|
UTSW |
1 |
71,298,540 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8136:Abca12
|
UTSW |
1 |
71,287,556 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8155:Abca12
|
UTSW |
1 |
71,330,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8189:Abca12
|
UTSW |
1 |
71,324,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8233:Abca12
|
UTSW |
1 |
71,390,916 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8249:Abca12
|
UTSW |
1 |
71,360,971 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8255:Abca12
|
UTSW |
1 |
71,359,058 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8300:Abca12
|
UTSW |
1 |
71,353,123 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8339:Abca12
|
UTSW |
1 |
71,324,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8490:Abca12
|
UTSW |
1 |
71,323,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8494:Abca12
|
UTSW |
1 |
71,327,821 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8527:Abca12
|
UTSW |
1 |
71,349,047 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8542:Abca12
|
UTSW |
1 |
71,349,047 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8692:Abca12
|
UTSW |
1 |
71,327,874 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8723:Abca12
|
UTSW |
1 |
71,360,897 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8796:Abca12
|
UTSW |
1 |
71,297,248 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R8911:Abca12
|
UTSW |
1 |
71,380,690 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8913:Abca12
|
UTSW |
1 |
71,303,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8957:Abca12
|
UTSW |
1 |
71,360,784 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9000:Abca12
|
UTSW |
1 |
71,353,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9137:Abca12
|
UTSW |
1 |
71,298,525 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9228:Abca12
|
UTSW |
1 |
71,332,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9237:Abca12
|
UTSW |
1 |
71,318,557 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9299:Abca12
|
UTSW |
1 |
71,359,042 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9419:Abca12
|
UTSW |
1 |
71,342,649 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9492:Abca12
|
UTSW |
1 |
71,297,380 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9538:Abca12
|
UTSW |
1 |
71,380,672 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9585:Abca12
|
UTSW |
1 |
71,342,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9658:Abca12
|
UTSW |
1 |
71,325,634 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9763:Abca12
|
UTSW |
1 |
71,302,717 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
X0013:Abca12
|
UTSW |
1 |
71,287,592 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0018:Abca12
|
UTSW |
1 |
71,353,669 (GRCm39) |
missense |
probably benign |
|
|
X0063:Abca12
|
UTSW |
1 |
71,388,223 (GRCm39) |
missense |
probably benign |
0.15 |
|
X0065:Abca12
|
UTSW |
1 |
71,380,620 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1176:Abca12
|
UTSW |
1 |
71,323,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Abca12
|
UTSW |
1 |
71,331,690 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Abca12
|
UTSW |
1 |
71,321,970 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Abca12
|
UTSW |
1 |
71,315,241 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGAAGCATGCAGTGTCCTG -3'
(R):5'- AAGTGTCTCTTCCTCCTATCGTAAG -3'
Sequencing Primer
(F):5'- CAGTGTCCTGGTGCCTCATTAAG -3'
(R):5'- GATATACCATCCGCATGAGTCTG -3'
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| Posted On |
2016-03-01 |
Incidental Mutation