Incidental Mutation 'R0612:Abca15'
| ID |
54817 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abca15
|
| Ensembl Gene |
ENSMUSG00000054746 |
| Gene Name |
ATP-binding cassette, sub-family A member 15 |
| Synonyms |
4930500I12Rik |
| MMRRC Submission |
038801-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R0612 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
119927893-120006910 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119936478 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 181
(L181P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112821
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076272]
[ENSMUST00000121265]
[ENSMUST00000207220]
|
| AlphaFold |
E9PWH4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076272
AA Change: L181P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075621
Gene: ENSMUSG00000054746
AA Change: L181P
| 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 damaging
Transcript: ENSMUST00000121265
AA Change: L181P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112821
Gene: ENSMUSG00000054746
AA Change: L181P
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140459
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207220
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 99.0%
- 10x: 97.2%
- 20x: 93.5%
|
| Validation Efficiency |
98% (92/94) |
| Allele List at MGI |
All alleles(2) : Targeted(2)
|
| Other mutations in this stock |
Total: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh3a1 |
A |
T |
11: 61,105,445 (GRCm39) |
I184F |
probably damaging |
Het |
| Arl6ip4 |
A |
G |
5: 124,254,596 (GRCm39) |
S30G |
probably benign |
Het |
| Atp9b |
T |
C |
18: 80,797,171 (GRCm39) |
E891G |
possibly damaging |
Het |
| Brsk1 |
T |
C |
7: 4,710,425 (GRCm39) |
L478P |
possibly damaging |
Het |
| Btaf1 |
G |
A |
19: 36,946,537 (GRCm39) |
V448I |
probably damaging |
Het |
| Cab39 |
T |
C |
1: 85,746,236 (GRCm39) |
|
probably null |
Het |
| Cacna2d4 |
G |
T |
6: 119,258,679 (GRCm39) |
|
probably benign |
Het |
| Capzb |
C |
T |
4: 139,018,340 (GRCm39) |
S253L |
probably benign |
Het |
| Ccdc174 |
A |
G |
6: 91,867,873 (GRCm39) |
|
probably benign |
Het |
| Ccdc180 |
C |
T |
4: 45,927,969 (GRCm39) |
A1168V |
probably damaging |
Het |
| Cdh19 |
T |
C |
1: 110,820,900 (GRCm39) |
|
probably benign |
Het |
| Cdh8 |
T |
C |
8: 100,127,546 (GRCm39) |
T22A |
probably benign |
Het |
| Cdk10 |
T |
C |
8: 123,957,419 (GRCm39) |
V181A |
probably benign |
Het |
| Ceacam15 |
A |
C |
7: 16,407,445 (GRCm39) |
L24* |
probably null |
Het |
| Cftr |
A |
C |
6: 18,198,125 (GRCm39) |
T20P |
probably benign |
Het |
| Cip2a |
C |
T |
16: 48,819,402 (GRCm39) |
A112V |
probably benign |
Het |
| Clstn3 |
T |
C |
6: 124,426,459 (GRCm39) |
T576A |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,516,003 (GRCm39) |
V165I |
unknown |
Het |
| Copg2 |
A |
T |
6: 30,838,404 (GRCm39) |
|
probably null |
Het |
| Cps1 |
A |
G |
1: 67,178,929 (GRCm39) |
H47R |
probably benign |
Het |
| Cytip |
T |
C |
2: 58,024,202 (GRCm39) |
D206G |
possibly damaging |
Het |
| Dcaf8l |
G |
A |
X: 88,448,972 (GRCm39) |
R386* |
probably null |
Het |
| Dnmt1 |
C |
T |
9: 20,829,489 (GRCm39) |
E824K |
probably damaging |
Het |
| Dock7 |
A |
C |
4: 98,877,470 (GRCm39) |
V442G |
probably benign |
Het |
| Dsc1 |
T |
G |
18: 20,247,573 (GRCm39) |
K14T |
probably damaging |
Het |
| Dync1h1 |
C |
T |
12: 110,582,930 (GRCm39) |
P371L |
probably damaging |
Het |
| Enah |
A |
G |
1: 181,734,013 (GRCm39) |
|
probably benign |
Het |
| Entrep2 |
C |
T |
7: 64,411,549 (GRCm39) |
V395M |
probably benign |
Het |
| Fastkd1 |
T |
C |
2: 69,542,727 (GRCm39) |
T27A |
probably benign |
Het |
| Fcho1 |
A |
G |
8: 72,168,168 (GRCm39) |
L248P |
probably damaging |
Het |
| Fezf1 |
A |
T |
6: 23,247,028 (GRCm39) |
V268D |
probably damaging |
Het |
| Fgd2 |
T |
A |
17: 29,597,321 (GRCm39) |
V547E |
probably benign |
Het |
| Flnb |
T |
A |
14: 7,887,682 (GRCm38) |
|
probably benign |
Het |
| Gabrg3 |
A |
G |
7: 56,379,454 (GRCm39) |
M316T |
probably damaging |
Het |
| Gigyf2 |
T |
C |
1: 87,376,802 (GRCm39) |
F1265L |
probably damaging |
Het |
| Git2 |
A |
G |
5: 114,890,342 (GRCm39) |
S271P |
probably damaging |
Het |
| Gorab |
T |
C |
1: 163,224,738 (GRCm39) |
D21G |
possibly damaging |
Het |
| Gpr179 |
T |
A |
11: 97,229,264 (GRCm39) |
T964S |
possibly damaging |
Het |
| Hdac5 |
A |
G |
11: 102,087,078 (GRCm39) |
V1042A |
possibly damaging |
Het |
| Hoxa2 |
T |
A |
6: 52,140,540 (GRCm39) |
T149S |
probably damaging |
Het |
| Igsf8 |
G |
T |
1: 172,146,974 (GRCm39) |
*108L |
probably null |
Het |
| Il1rap |
C |
T |
16: 26,519,855 (GRCm39) |
T307M |
possibly damaging |
Het |
| Itih2 |
T |
C |
2: 10,122,205 (GRCm39) |
D232G |
probably benign |
Het |
| Jak3 |
A |
G |
8: 72,136,021 (GRCm39) |
Y607C |
probably damaging |
Het |
| Kcnh1 |
C |
T |
1: 191,959,361 (GRCm39) |
P305L |
probably damaging |
Het |
| Lrrc7 |
T |
A |
3: 157,869,990 (GRCm39) |
I644F |
probably damaging |
Het |
| Lrrn2 |
T |
C |
1: 132,865,466 (GRCm39) |
L177P |
probably damaging |
Het |
| Lypd8l |
A |
G |
11: 58,502,799 (GRCm39) |
|
probably null |
Het |
| Map4k3 |
C |
A |
17: 80,909,622 (GRCm39) |
K712N |
probably damaging |
Het |
| Med11 |
A |
G |
11: 70,342,910 (GRCm39) |
T36A |
probably benign |
Het |
| Mmp14 |
A |
G |
14: 54,677,891 (GRCm39) |
D504G |
probably damaging |
Het |
| Mob1a |
A |
G |
6: 83,311,140 (GRCm39) |
T120A |
probably benign |
Het |
| Mr1 |
T |
A |
1: 155,013,436 (GRCm39) |
D47V |
probably damaging |
Het |
| Nacad |
G |
T |
11: 6,551,382 (GRCm39) |
A603E |
possibly damaging |
Het |
| Nwd1 |
T |
A |
8: 73,394,308 (GRCm39) |
W524R |
probably damaging |
Het |
| Or11g26 |
A |
T |
14: 50,752,939 (GRCm39) |
T93S |
probably benign |
Het |
| Or13a19 |
T |
A |
7: 139,903,101 (GRCm39) |
M163K |
possibly damaging |
Het |
| Or4e1 |
T |
C |
14: 52,701,008 (GRCm39) |
T153A |
probably benign |
Het |
| Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
| Pde6c |
T |
A |
19: 38,121,694 (GRCm39) |
C101S |
probably benign |
Het |
| Pdia3 |
G |
A |
2: 121,262,858 (GRCm39) |
G275S |
probably damaging |
Het |
| Pdlim4 |
G |
A |
11: 53,959,713 (GRCm39) |
R16C |
probably damaging |
Het |
| Pfkp |
A |
G |
13: 6,655,670 (GRCm39) |
|
probably null |
Het |
| Plcg2 |
T |
A |
8: 118,300,104 (GRCm39) |
S225T |
probably benign |
Het |
| Pramel1 |
T |
C |
4: 143,124,101 (GRCm39) |
S259P |
probably damaging |
Het |
| Pramel27 |
G |
T |
4: 143,578,658 (GRCm39) |
|
probably benign |
Het |
| Rc3h2 |
T |
C |
2: 37,301,227 (GRCm39) |
N92D |
possibly damaging |
Het |
| Ric8b |
C |
A |
10: 84,837,745 (GRCm39) |
N517K |
probably damaging |
Het |
| Rnf34 |
G |
A |
5: 123,002,237 (GRCm39) |
R65H |
probably damaging |
Het |
| Rraga |
C |
T |
4: 86,494,564 (GRCm39) |
R137C |
probably damaging |
Het |
| Scube2 |
C |
T |
7: 109,403,971 (GRCm39) |
|
probably benign |
Het |
| Slc28a2b |
T |
C |
2: 122,352,179 (GRCm39) |
M339T |
probably damaging |
Het |
| Spata31d1d |
T |
C |
13: 59,875,787 (GRCm39) |
I583V |
probably benign |
Het |
| Suox |
T |
C |
10: 128,506,525 (GRCm39) |
E501G |
probably benign |
Het |
| Susd1 |
A |
G |
4: 59,390,561 (GRCm39) |
|
probably benign |
Het |
| Tac1 |
T |
C |
6: 7,555,653 (GRCm39) |
S14P |
probably damaging |
Het |
| Tbc1d8 |
T |
C |
1: 39,411,596 (GRCm39) |
E1080G |
possibly damaging |
Het |
| Tll1 |
A |
C |
8: 64,524,344 (GRCm39) |
S447R |
possibly damaging |
Het |
| Tmem132e |
G |
A |
11: 82,334,198 (GRCm39) |
V662M |
probably damaging |
Het |
| Upf2 |
G |
T |
2: 6,038,909 (GRCm39) |
|
probably benign |
Het |
| Uspl1 |
A |
G |
5: 149,151,767 (GRCm39) |
E989G |
probably damaging |
Het |
| Vmn1r58 |
T |
C |
7: 5,413,618 (GRCm39) |
H204R |
probably damaging |
Het |
| Vmn2r25 |
A |
T |
6: 123,816,481 (GRCm39) |
C367S |
probably damaging |
Het |
| Vps13b |
A |
T |
15: 35,623,803 (GRCm39) |
Q1240L |
probably benign |
Het |
| Xrcc1 |
C |
T |
7: 24,269,744 (GRCm39) |
|
probably benign |
Het |
| Yeats2 |
T |
G |
16: 20,005,175 (GRCm39) |
V385G |
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 |
|
|
H8562:Abca15
|
UTSW |
7 |
119,974,077 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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'- CACACCTTTATCGCCAAACTTAAACTTAACAT -3'
(R):5'- ATCAATTAAATAAACACTTTGTAGCACGGGTC -3'
Sequencing Primer
(F):5'- GGTATGCTTGCTTACTATAAACCCAC -3'
(R):5'- GTCTGAAGAAATAGGAATCCTTCCAC -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 |
2013-07-11 |
Incidental Mutation