Incidental Mutation 'H8562:Abca15'
| ID |
44342 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abca15
|
| Ensembl Gene |
ENSMUSG00000054746 |
| Gene Name |
ATP-binding cassette, sub-family A member 15 |
| Synonyms |
4930500I12Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
H8562 (G3)
of strain
604
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
119927893-120006910 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 119974077 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112821
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076272]
[ENSMUST00000121265]
|
| AlphaFold |
E9PWH4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076272
|
| SMART Domains |
Protein: ENSMUSP00000075621
Gene: ENSMUSG00000054746
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC2_membrane_3
|
24 |
464 |
5.7e-21 |
PFAM |
|
AAA
|
550 |
732 |
9.14e-11 |
SMART |
|
Pfam:ABC2_membrane_3
|
892 |
1293 |
7.9e-24 |
PFAM |
|
AAA
|
1381 |
1565 |
1.16e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121265
|
| SMART Domains |
Protein: ENSMUSP00000112821
Gene: ENSMUSG00000054746
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC2_membrane_3
|
24 |
464 |
2.1e-21 |
PFAM |
|
AAA
|
550 |
732 |
9.14e-11 |
SMART |
|
Pfam:ABC2_membrane_3
|
907 |
1293 |
1e-25 |
PFAM |
|
AAA
|
1381 |
1565 |
1.16e-3 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
96% (109/114) |
| Allele List at MGI |
All alleles(2) : Targeted(2)
|
| Other mutations in this stock |
Total: 109 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
T |
C |
11: 58,771,717 (GRCm39) |
C400R |
probably damaging |
Het |
| 4930519F16Rik |
A |
T |
X: 102,299,463 (GRCm39) |
|
noncoding transcript |
Het |
| 5430402E10Rik |
G |
T |
X: 76,966,340 (GRCm39) |
H117Q |
probably damaging |
Het |
| Abca8a |
A |
G |
11: 109,933,835 (GRCm39) |
I1190T |
probably benign |
Het |
| Acmsd |
T |
C |
1: 127,676,795 (GRCm39) |
Y107H |
probably benign |
Het |
| Adcy5 |
A |
G |
16: 35,087,551 (GRCm39) |
I471V |
probably damaging |
Het |
| Aff2 |
G |
A |
X: 68,892,532 (GRCm39) |
A939T |
unknown |
Het |
| Ampd2 |
C |
A |
3: 107,988,427 (GRCm39) |
A11S |
probably benign |
Het |
| Aoah |
T |
A |
13: 21,000,694 (GRCm39) |
C43S |
probably damaging |
Het |
| Apobec4 |
T |
C |
1: 152,632,925 (GRCm39) |
S318P |
probably damaging |
Het |
| Arid2 |
C |
T |
15: 96,267,427 (GRCm39) |
P636S |
possibly damaging |
Het |
| Atp13a3 |
A |
T |
16: 30,178,543 (GRCm39) |
C164* |
probably null |
Het |
| Avl9 |
G |
A |
6: 56,734,295 (GRCm39) |
A625T |
probably damaging |
Het |
| Bco1 |
G |
T |
8: 117,832,386 (GRCm39) |
|
probably benign |
Het |
| Brd3 |
C |
T |
2: 27,340,545 (GRCm39) |
G555S |
possibly damaging |
Het |
| Brd4 |
A |
T |
17: 32,448,377 (GRCm39) |
|
probably benign |
Het |
| Btbd7 |
A |
G |
12: 102,754,561 (GRCm39) |
V735A |
probably benign |
Het |
| C2cd2 |
G |
T |
16: 97,680,840 (GRCm39) |
Q325K |
possibly damaging |
Het |
| Carmil1 |
A |
G |
13: 24,248,630 (GRCm39) |
V485A |
probably benign |
Het |
| Casz1 |
T |
C |
4: 149,017,908 (GRCm39) |
L113P |
probably damaging |
Het |
| Ccdc3 |
T |
C |
2: 5,143,016 (GRCm39) |
L91S |
probably damaging |
Het |
| Cd180 |
A |
G |
13: 102,841,926 (GRCm39) |
K324R |
probably benign |
Het |
| Cd200r4 |
A |
G |
16: 44,653,736 (GRCm39) |
T132A |
possibly damaging |
Het |
| Cops7a |
A |
G |
6: 124,939,416 (GRCm39) |
|
probably benign |
Het |
| Cyp2c29 |
A |
T |
19: 39,298,106 (GRCm39) |
N217I |
probably damaging |
Het |
| Dapk1 |
C |
A |
13: 60,909,126 (GRCm39) |
H1246Q |
probably damaging |
Het |
| Dmbt1 |
T |
A |
7: 130,713,805 (GRCm39) |
C1450* |
probably null |
Het |
| Dnah10 |
T |
A |
5: 124,906,593 (GRCm39) |
M4151K |
probably damaging |
Het |
| Dnai1 |
C |
A |
4: 41,629,833 (GRCm39) |
F452L |
possibly damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,583,241 (GRCm39) |
M446T |
probably benign |
Het |
| Dytn |
A |
C |
1: 63,714,071 (GRCm39) |
S143A |
possibly damaging |
Het |
| E130308A19Rik |
T |
A |
4: 59,691,033 (GRCm39) |
L289Q |
possibly damaging |
Het |
| Efemp2 |
G |
T |
19: 5,530,677 (GRCm39) |
V250L |
probably benign |
Het |
| Elmo1 |
T |
C |
13: 20,465,033 (GRCm39) |
S201P |
probably damaging |
Het |
| Fam222b |
T |
A |
11: 78,045,404 (GRCm39) |
C194S |
probably damaging |
Het |
| Fam91a1 |
G |
A |
15: 58,298,970 (GRCm39) |
|
probably null |
Het |
| Fcf1 |
T |
A |
12: 85,027,386 (GRCm39) |
|
probably benign |
Het |
| Fnip1 |
T |
A |
11: 54,371,123 (GRCm39) |
F134L |
probably damaging |
Het |
| Fyn |
T |
C |
10: 39,387,950 (GRCm39) |
S69P |
probably benign |
Het |
| Gabbr1 |
T |
C |
17: 37,382,841 (GRCm39) |
Y845H |
probably damaging |
Het |
| Gfra2 |
C |
T |
14: 71,215,818 (GRCm39) |
T169M |
possibly damaging |
Het |
| Gm5435 |
T |
C |
12: 82,542,449 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7251 |
A |
G |
13: 49,959,148 (GRCm39) |
Y94H |
probably damaging |
Het |
| Gvin3 |
A |
G |
7: 106,202,356 (GRCm39) |
F296S |
probably damaging |
Het |
| H2bc15 |
T |
C |
13: 21,938,648 (GRCm39) |
V119A |
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,423,594 (GRCm39) |
N530K |
probably benign |
Het |
| Icam5 |
A |
T |
9: 20,946,442 (GRCm39) |
E355V |
probably benign |
Het |
| Ighv3-6 |
A |
G |
12: 114,252,158 (GRCm39) |
|
probably benign |
Het |
| Intu |
T |
C |
3: 40,647,103 (GRCm39) |
S659P |
probably damaging |
Het |
| Ivns1abp |
T |
C |
1: 151,230,446 (GRCm39) |
V198A |
probably damaging |
Het |
| Katnb1 |
T |
A |
8: 95,822,138 (GRCm39) |
|
probably benign |
Het |
| Kcna5 |
T |
C |
6: 126,510,386 (GRCm39) |
S581G |
probably damaging |
Het |
| Kif23 |
A |
G |
9: 61,831,347 (GRCm39) |
V741A |
probably benign |
Het |
| Lbr |
A |
T |
1: 181,648,233 (GRCm39) |
|
probably benign |
Het |
| Loxhd1 |
A |
C |
18: 77,429,627 (GRCm39) |
T508P |
possibly damaging |
Het |
| Lrrk2 |
T |
A |
15: 91,557,561 (GRCm39) |
N26K |
probably benign |
Het |
| Ly96 |
A |
T |
1: 16,761,918 (GRCm39) |
K41N |
probably damaging |
Het |
| Lypd1 |
C |
T |
1: 125,838,274 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,359,833 (GRCm39) |
V1817A |
probably benign |
Het |
| Mknk2 |
A |
G |
10: 80,504,768 (GRCm39) |
|
probably benign |
Het |
| Mmp19 |
A |
T |
10: 128,631,470 (GRCm39) |
I117L |
probably benign |
Het |
| Mmrn1 |
G |
A |
6: 60,935,164 (GRCm39) |
G220D |
probably damaging |
Het |
| Mtrr |
T |
C |
13: 68,712,496 (GRCm39) |
H630R |
probably damaging |
Het |
| Nfat5 |
T |
C |
8: 108,066,014 (GRCm39) |
|
probably benign |
Het |
| Ngef |
C |
A |
1: 87,415,529 (GRCm39) |
K288N |
possibly damaging |
Het |
| Nkain4 |
T |
C |
2: 180,584,938 (GRCm39) |
E71G |
probably benign |
Het |
| Odc1 |
T |
C |
12: 17,598,038 (GRCm39) |
Y122H |
probably benign |
Het |
| Or1e25 |
T |
C |
11: 73,494,273 (GRCm39) |
I289T |
probably damaging |
Het |
| Or2d2 |
C |
A |
7: 106,728,448 (GRCm39) |
A51S |
probably benign |
Het |
| Or8g51 |
C |
A |
9: 38,609,206 (GRCm39) |
G156V |
probably damaging |
Het |
| Osbpl3 |
A |
T |
6: 50,324,446 (GRCm39) |
N190K |
probably benign |
Het |
| Osgepl1 |
T |
C |
1: 53,354,198 (GRCm39) |
V54A |
probably damaging |
Het |
| Otogl |
T |
C |
10: 107,746,817 (GRCm39) |
Y19C |
probably benign |
Het |
| Pop1 |
T |
C |
15: 34,530,358 (GRCm39) |
S919P |
probably benign |
Het |
| Pramel21 |
T |
A |
4: 143,341,920 (GRCm39) |
|
probably benign |
Het |
| Prl8a9 |
A |
G |
13: 27,746,584 (GRCm39) |
|
probably benign |
Het |
| Prr14l |
A |
T |
5: 32,951,072 (GRCm39) |
V1907D |
probably damaging |
Het |
| Ptprn |
T |
C |
1: 75,231,264 (GRCm39) |
T547A |
possibly damaging |
Het |
| Rdh14 |
G |
T |
12: 10,444,709 (GRCm39) |
V187F |
probably damaging |
Het |
| Rev1 |
A |
G |
1: 38,095,848 (GRCm39) |
L853P |
probably damaging |
Het |
| Robo4 |
T |
C |
9: 37,317,106 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,732,027 (GRCm39) |
|
probably benign |
Het |
| Sec16a |
G |
A |
2: 26,331,517 (GRCm39) |
P166L |
probably benign |
Het |
| Slc6a19 |
G |
A |
13: 73,848,243 (GRCm39) |
|
probably benign |
Het |
| Slco4c1 |
T |
A |
1: 96,770,210 (GRCm39) |
T285S |
probably benign |
Het |
| Speg |
G |
T |
1: 75,392,241 (GRCm39) |
A1633S |
probably benign |
Het |
| Srpk1 |
T |
A |
17: 28,821,707 (GRCm39) |
T236S |
probably benign |
Het |
| Stxbp5 |
T |
C |
10: 9,645,187 (GRCm39) |
N262S |
probably benign |
Het |
| Suco |
T |
C |
1: 161,680,420 (GRCm39) |
E317G |
probably damaging |
Het |
| Syk |
A |
G |
13: 52,794,657 (GRCm39) |
N441D |
probably damaging |
Het |
| Syt17 |
T |
C |
7: 118,007,292 (GRCm39) |
K334R |
probably benign |
Het |
| Sytl5 |
A |
T |
X: 9,826,335 (GRCm39) |
H436L |
probably benign |
Het |
| Tasor2 |
A |
T |
13: 3,627,000 (GRCm39) |
S983R |
probably damaging |
Het |
| Thada |
A |
G |
17: 84,753,972 (GRCm39) |
L333P |
probably damaging |
Het |
| Thap12 |
T |
C |
7: 98,364,314 (GRCm39) |
Y161H |
probably damaging |
Het |
| Thbs2 |
C |
T |
17: 14,891,715 (GRCm39) |
V941I |
probably benign |
Het |
| Tktl1 |
A |
T |
X: 73,225,470 (GRCm39) |
E72V |
probably damaging |
Het |
| Tm4sf5 |
T |
A |
11: 70,396,338 (GRCm39) |
|
probably benign |
Het |
| Urb1 |
T |
A |
16: 90,566,357 (GRCm39) |
M1477L |
probably benign |
Het |
| Vcp |
T |
A |
4: 42,982,596 (GRCm39) |
I699F |
probably damaging |
Het |
| Vmn1r232 |
T |
C |
17: 21,133,656 (GRCm39) |
T315A |
probably benign |
Het |
| Vmn2r100 |
T |
A |
17: 19,741,752 (GRCm39) |
W155R |
possibly damaging |
Het |
| Vmn2r19 |
T |
C |
6: 123,292,861 (GRCm39) |
I301T |
possibly damaging |
Het |
| Wwc2 |
A |
G |
8: 48,373,701 (GRCm39) |
V55A |
possibly damaging |
Het |
| Xirp2 |
A |
G |
2: 67,345,801 (GRCm39) |
T2681A |
probably benign |
Het |
| Zfp39 |
C |
A |
11: 58,791,512 (GRCm39) |
L58F |
probably damaging |
Het |
| Zfp612 |
T |
C |
8: 110,816,670 (GRCm39) |
F587L |
probably damaging |
Het |
| Zfp810 |
T |
C |
9: 22,190,387 (GRCm39) |
R174G |
probably benign |
Het |
| Zfta |
A |
G |
19: 7,400,286 (GRCm39) |
K251E |
probably benign |
Het |
|
| Other mutations in Abca15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00429:Abca15
|
APN |
7 |
119,996,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00505:Abca15
|
APN |
7 |
119,968,459 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00851:Abca15
|
APN |
7 |
119,939,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00985:Abca15
|
APN |
7 |
119,996,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01114:Abca15
|
APN |
7 |
119,960,643 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01287:Abca15
|
APN |
7 |
119,932,081 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01333:Abca15
|
APN |
7 |
119,981,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01482:Abca15
|
APN |
7 |
119,981,969 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01610:Abca15
|
APN |
7 |
119,939,867 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02238:Abca15
|
APN |
7 |
119,995,829 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02377:Abca15
|
APN |
7 |
119,965,133 (GRCm39) |
splice site |
probably benign |
|
|
IGL02666:Abca15
|
APN |
7 |
119,934,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02836:Abca15
|
APN |
7 |
119,987,439 (GRCm39) |
missense |
probably benign |
|
|
IGL03337:Abca15
|
APN |
7 |
119,995,930 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL03354:Abca15
|
APN |
7 |
119,993,711 (GRCm39) |
nonsense |
probably null |
|
|
IGL03098:Abca15
|
UTSW |
7 |
119,987,499 (GRCm39) |
splice site |
probably null |
|
|
R0029:Abca15
|
UTSW |
7 |
119,945,225 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0029:Abca15
|
UTSW |
7 |
119,945,225 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0076:Abca15
|
UTSW |
7 |
119,972,908 (GRCm39) |
splice site |
probably benign |
|
|
R0165:Abca15
|
UTSW |
7 |
119,950,126 (GRCm39) |
splice site |
probably benign |
|
|
R0311:Abca15
|
UTSW |
7 |
120,002,127 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0387:Abca15
|
UTSW |
7 |
119,932,075 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0610:Abca15
|
UTSW |
7 |
119,965,009 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0612:Abca15
|
UTSW |
7 |
119,936,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0704:Abca15
|
UTSW |
7 |
119,953,746 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0890:Abca15
|
UTSW |
7 |
119,972,936 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0961:Abca15
|
UTSW |
7 |
119,960,208 (GRCm39) |
nonsense |
probably null |
|
|
R1144:Abca15
|
UTSW |
7 |
119,960,083 (GRCm39) |
splice site |
probably benign |
|
|
R1412:Abca15
|
UTSW |
7 |
119,944,546 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1419:Abca15
|
UTSW |
7 |
119,974,125 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1467:Abca15
|
UTSW |
7 |
119,939,761 (GRCm39) |
splice site |
probably null |
|
|
R1467:Abca15
|
UTSW |
7 |
119,939,761 (GRCm39) |
splice site |
probably null |
|
|
R1469:Abca15
|
UTSW |
7 |
119,981,720 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1469:Abca15
|
UTSW |
7 |
119,981,720 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1493:Abca15
|
UTSW |
7 |
119,981,513 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1513:Abca15
|
UTSW |
7 |
119,939,322 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1702:Abca15
|
UTSW |
7 |
119,981,925 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1857:Abca15
|
UTSW |
7 |
119,960,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1893:Abca15
|
UTSW |
7 |
119,939,776 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1901:Abca15
|
UTSW |
7 |
119,945,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1951:Abca15
|
UTSW |
7 |
119,960,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1953:Abca15
|
UTSW |
7 |
119,960,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1962:Abca15
|
UTSW |
7 |
119,940,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2063:Abca15
|
UTSW |
7 |
119,960,127 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R2141:Abca15
|
UTSW |
7 |
120,006,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2145:Abca15
|
UTSW |
7 |
119,953,701 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2182:Abca15
|
UTSW |
7 |
119,939,450 (GRCm39) |
nonsense |
probably null |
|
|
R2425:Abca15
|
UTSW |
7 |
119,959,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2444:Abca15
|
UTSW |
7 |
119,965,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3023:Abca15
|
UTSW |
7 |
119,982,002 (GRCm39) |
missense |
probably benign |
0.40 |
|
R3079:Abca15
|
UTSW |
7 |
119,984,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3106:Abca15
|
UTSW |
7 |
119,995,856 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R3622:Abca15
|
UTSW |
7 |
119,950,036 (GRCm39) |
nonsense |
probably null |
|
|
R4085:Abca15
|
UTSW |
7 |
119,981,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4233:Abca15
|
UTSW |
7 |
120,002,202 (GRCm39) |
nonsense |
probably null |
|
|
R4591:Abca15
|
UTSW |
7 |
119,981,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4612:Abca15
|
UTSW |
7 |
119,934,384 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4721:Abca15
|
UTSW |
7 |
119,949,998 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4838:Abca15
|
UTSW |
7 |
119,944,523 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4940:Abca15
|
UTSW |
7 |
119,931,917 (GRCm39) |
missense |
probably benign |
|
|
R4963:Abca15
|
UTSW |
7 |
119,960,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4993:Abca15
|
UTSW |
7 |
120,000,941 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5022:Abca15
|
UTSW |
7 |
119,945,319 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5030:Abca15
|
UTSW |
7 |
119,939,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5072:Abca15
|
UTSW |
7 |
120,006,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5090:Abca15
|
UTSW |
7 |
119,984,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5309:Abca15
|
UTSW |
7 |
119,944,592 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5310:Abca15
|
UTSW |
7 |
119,931,839 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5312:Abca15
|
UTSW |
7 |
119,944,592 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5482:Abca15
|
UTSW |
7 |
119,968,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5596:Abca15
|
UTSW |
7 |
120,000,972 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5853:Abca15
|
UTSW |
7 |
119,939,806 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5950:Abca15
|
UTSW |
7 |
119,981,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5953:Abca15
|
UTSW |
7 |
119,960,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6072:Abca15
|
UTSW |
7 |
119,987,481 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6131:Abca15
|
UTSW |
7 |
119,939,428 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6132:Abca15
|
UTSW |
7 |
119,960,643 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6136:Abca15
|
UTSW |
7 |
119,939,272 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6207:Abca15
|
UTSW |
7 |
119,973,017 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6315:Abca15
|
UTSW |
7 |
119,945,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6417:Abca15
|
UTSW |
7 |
119,996,351 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6420:Abca15
|
UTSW |
7 |
119,996,351 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6595:Abca15
|
UTSW |
7 |
119,993,710 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6653:Abca15
|
UTSW |
7 |
119,945,229 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6859:Abca15
|
UTSW |
7 |
120,002,217 (GRCm39) |
nonsense |
probably null |
|
|
R6983:Abca15
|
UTSW |
7 |
119,953,686 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7127:Abca15
|
UTSW |
7 |
119,931,825 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7205:Abca15
|
UTSW |
7 |
119,993,587 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7336:Abca15
|
UTSW |
7 |
119,987,456 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7426:Abca15
|
UTSW |
7 |
119,945,221 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7745:Abca15
|
UTSW |
7 |
119,931,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7751:Abca15
|
UTSW |
7 |
119,965,044 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7806:Abca15
|
UTSW |
7 |
119,932,059 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8042:Abca15
|
UTSW |
7 |
120,002,233 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8098:Abca15
|
UTSW |
7 |
119,960,619 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8153:Abca15
|
UTSW |
7 |
119,999,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8247:Abca15
|
UTSW |
7 |
119,936,445 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8259:Abca15
|
UTSW |
7 |
119,939,422 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8272:Abca15
|
UTSW |
7 |
120,006,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8295:Abca15
|
UTSW |
7 |
119,974,188 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8757:Abca15
|
UTSW |
7 |
120,006,631 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8759:Abca15
|
UTSW |
7 |
120,006,631 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8905:Abca15
|
UTSW |
7 |
119,960,771 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9145:Abca15
|
UTSW |
7 |
119,987,388 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9217:Abca15
|
UTSW |
7 |
119,987,439 (GRCm39) |
missense |
probably benign |
|
|
R9264:Abca15
|
UTSW |
7 |
120,001,056 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9517:Abca15
|
UTSW |
7 |
119,987,424 (GRCm39) |
missense |
probably benign |
0.07 |
|
RF018:Abca15
|
UTSW |
7 |
119,993,683 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
Z1176:Abca15
|
UTSW |
7 |
119,981,728 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Abca15
|
UTSW |
7 |
119,945,249 (GRCm39) |
missense |
probably benign |
0.22 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACATCACTGGGTGCCACATCACG -3'
(R):5'- ACCTATGTTTGGGAGTGACCCAAGG -3'
Sequencing Primer
(F):5'- TGGGTCTCCTCCAAGAACTT -3'
(R):5'- GCCAGGTTTTAGCATATTCTCAAGG -3'
|
| Protein Function and Prediction |
Abca15 encodes ABCA15, a member of the ATP-binding cassette (ABC) transporter superfamily. The members of the ABCA subfamily share a high degree of sequence conservation and function in lipid trafficking in several body locations. Abca15 has been cloned rat and mouse; no human orthologue has been described. The ABCA15 has two nucleotide-binding folds and two transmembrane domains. Abca15 is predominantly expressed in testis, indicating that it may function in testicular development or spermatogenesis.
|
| Posted On |
2013-06-11 |
Incidental Mutation