Incidental Mutation 'R0387:Abca15'
| ID |
31351 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abca15
|
| Ensembl Gene |
ENSMUSG00000054746 |
| Gene Name |
ATP-binding cassette, sub-family A member 15 |
| Synonyms |
4930500I12Rik |
| MMRRC Submission |
038593-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R0387 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
119927893-120006910 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to G
at 119932075 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112821
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076272]
[ENSMUST00000121265]
[ENSMUST00000207220]
|
| AlphaFold |
E9PWH4 |
| Predicted Effect |
probably null
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 null
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140459
|
| Predicted Effect |
silent
Transcript: ENSMUST00000207220
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.7%
- 10x: 94.2%
- 20x: 85.0%
|
| Validation Efficiency |
99% (77/78) |
| Allele List at MGI |
All alleles(2) : Targeted(2)
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
T |
A |
6: 142,585,230 (GRCm39) |
K825* |
probably null |
Het |
| Afp |
T |
C |
5: 90,645,150 (GRCm39) |
C189R |
probably damaging |
Het |
| Akap9 |
T |
C |
5: 4,001,678 (GRCm39) |
|
probably benign |
Het |
| Alpk3 |
A |
T |
7: 80,753,975 (GRCm39) |
T1652S |
possibly damaging |
Het |
| Atg4b |
C |
A |
1: 93,714,278 (GRCm39) |
Q354K |
probably benign |
Het |
| Atxn2 |
T |
C |
5: 121,940,206 (GRCm39) |
S388P |
possibly damaging |
Het |
| C2cd3 |
T |
A |
7: 100,071,714 (GRCm39) |
|
probably benign |
Het |
| Cacna2d2 |
C |
A |
9: 107,391,080 (GRCm39) |
T403K |
probably damaging |
Het |
| Cap2 |
C |
T |
13: 46,713,992 (GRCm39) |
H79Y |
probably damaging |
Het |
| Car10 |
G |
T |
11: 93,473,847 (GRCm39) |
|
probably null |
Het |
| Ccno |
T |
C |
13: 113,126,401 (GRCm39) |
L290P |
probably damaging |
Het |
| Cfap69 |
T |
C |
5: 5,639,303 (GRCm39) |
K624E |
probably damaging |
Het |
| Ctnna3 |
A |
G |
10: 64,421,909 (GRCm39) |
M568V |
probably benign |
Het |
| Cyp1b1 |
C |
A |
17: 80,021,203 (GRCm39) |
V180L |
probably benign |
Het |
| Cyp2u1 |
G |
T |
3: 131,089,201 (GRCm39) |
|
probably null |
Het |
| Dcp1a |
T |
C |
14: 30,241,636 (GRCm39) |
|
probably null |
Het |
| Dnm1 |
C |
T |
2: 32,210,593 (GRCm39) |
G1S |
possibly damaging |
Het |
| Dnmt1 |
A |
G |
9: 20,829,509 (GRCm39) |
L698P |
probably damaging |
Het |
| Dock10 |
C |
A |
1: 80,517,993 (GRCm39) |
C1327F |
probably damaging |
Het |
| Dph3b-ps |
A |
G |
13: 106,683,363 (GRCm39) |
|
noncoding transcript |
Het |
| Dpyd |
G |
A |
3: 119,220,875 (GRCm39) |
D949N |
probably benign |
Het |
| Dync2li1 |
A |
G |
17: 84,962,768 (GRCm39) |
K345E |
possibly damaging |
Het |
| Eml2 |
T |
A |
7: 18,916,184 (GRCm39) |
|
probably null |
Het |
| Exoc7 |
A |
G |
11: 116,185,227 (GRCm39) |
|
probably benign |
Het |
| Faah |
A |
T |
4: 115,862,889 (GRCm39) |
C113* |
probably null |
Het |
| Fcf1 |
T |
A |
12: 85,019,776 (GRCm39) |
D16E |
probably benign |
Het |
| Fcgbp |
T |
C |
7: 27,790,879 (GRCm39) |
|
probably benign |
Het |
| Ghr |
A |
G |
15: 3,349,373 (GRCm39) |
S602P |
probably benign |
Het |
| Gm5114 |
T |
C |
7: 39,058,233 (GRCm39) |
D462G |
probably benign |
Het |
| Gm8186 |
T |
A |
17: 26,318,000 (GRCm39) |
S66C |
probably damaging |
Het |
| Gorab |
C |
T |
1: 163,224,403 (GRCm39) |
V133M |
probably benign |
Het |
| Gria1 |
G |
A |
11: 57,200,710 (GRCm39) |
|
probably null |
Het |
| Grik1 |
T |
A |
16: 87,831,238 (GRCm39) |
|
probably benign |
Het |
| Gtf3c1 |
A |
G |
7: 125,280,276 (GRCm39) |
L378P |
probably damaging |
Het |
| Htr5b |
A |
T |
1: 121,455,275 (GRCm39) |
V215D |
probably damaging |
Het |
| Htra1 |
A |
G |
7: 130,581,208 (GRCm39) |
T319A |
probably damaging |
Het |
| Idh2 |
C |
T |
7: 79,748,005 (GRCm39) |
A232T |
probably damaging |
Het |
| Klrb1a |
A |
C |
6: 128,586,697 (GRCm39) |
H189Q |
possibly damaging |
Het |
| Lhfpl6 |
A |
G |
3: 52,950,749 (GRCm39) |
T8A |
probably benign |
Het |
| Ly75 |
T |
A |
2: 60,136,748 (GRCm39) |
Y1493F |
probably benign |
Het |
| Mfsd5 |
T |
C |
15: 102,189,531 (GRCm39) |
I301T |
possibly damaging |
Het |
| Mlkl |
C |
T |
8: 112,059,982 (GRCm39) |
E135K |
probably damaging |
Het |
| Mrgprx2 |
A |
C |
7: 48,148,908 (GRCm39) |
M1R |
probably null |
Het |
| Mroh2a |
G |
C |
1: 88,173,764 (GRCm39) |
A871P |
probably damaging |
Het |
| Mtbp |
A |
G |
15: 55,474,425 (GRCm39) |
I280V |
possibly damaging |
Het |
| Myo5c |
A |
T |
9: 75,192,303 (GRCm39) |
|
probably benign |
Het |
| Nos3 |
A |
G |
5: 24,572,583 (GRCm39) |
K174R |
probably damaging |
Het |
| Oas2 |
A |
T |
5: 120,883,737 (GRCm39) |
|
probably benign |
Het |
| Or8b40 |
T |
A |
9: 38,027,066 (GRCm39) |
|
probably null |
Het |
| Pi4kb |
G |
C |
3: 94,892,051 (GRCm39) |
E256Q |
probably benign |
Het |
| Pik3c2a |
T |
A |
7: 115,972,979 (GRCm39) |
I739F |
probably damaging |
Het |
| Pla2r1 |
T |
A |
2: 60,262,945 (GRCm39) |
K1031N |
probably benign |
Het |
| Plk4 |
A |
T |
3: 40,767,319 (GRCm39) |
|
probably benign |
Het |
| Polq |
T |
C |
16: 36,849,792 (GRCm39) |
C349R |
probably damaging |
Het |
| Polq |
G |
T |
16: 36,909,679 (GRCm39) |
E2354D |
probably damaging |
Het |
| Prss22 |
A |
G |
17: 24,212,903 (GRCm39) |
L278P |
probably damaging |
Het |
| Prss3l |
A |
G |
6: 41,420,303 (GRCm39) |
I141T |
possibly damaging |
Het |
| Ptprk |
G |
A |
10: 28,230,625 (GRCm39) |
V239I |
possibly damaging |
Het |
| Raph1 |
T |
G |
1: 60,549,655 (GRCm39) |
|
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Ripor3 |
C |
T |
2: 167,825,692 (GRCm39) |
W755* |
probably null |
Het |
| Rnd3 |
G |
T |
2: 51,038,243 (GRCm39) |
D77E |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,782,792 (GRCm39) |
|
probably benign |
Het |
| Serpinb1a |
C |
T |
13: 33,032,721 (GRCm39) |
V63I |
probably benign |
Het |
| Six1 |
T |
G |
12: 73,092,815 (GRCm39) |
Y129S |
probably damaging |
Het |
| Spata31d1a |
G |
A |
13: 59,851,315 (GRCm39) |
T271I |
probably damaging |
Het |
| Stab1 |
T |
C |
14: 30,870,058 (GRCm39) |
D1387G |
probably benign |
Het |
| Stra6 |
T |
A |
9: 58,060,466 (GRCm39) |
M625K |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,301,029 (GRCm39) |
S900G |
probably benign |
Het |
| Tdpoz4 |
A |
C |
3: 93,704,007 (GRCm39) |
K101N |
probably benign |
Het |
| Tigd2 |
T |
C |
6: 59,188,143 (GRCm39) |
Y337H |
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,902,548 (GRCm39) |
I1134V |
probably benign |
Het |
| Tspyl5 |
A |
G |
15: 33,687,081 (GRCm39) |
I288T |
probably damaging |
Het |
| Ulk1 |
A |
G |
5: 110,936,663 (GRCm39) |
V61A |
possibly damaging |
Het |
| Xxylt1 |
A |
G |
16: 30,776,194 (GRCm39) |
Y381H |
probably benign |
Het |
| Zcchc9 |
T |
A |
13: 91,949,066 (GRCm39) |
M12L |
probably benign |
Het |
| Zfp106 |
T |
C |
2: 120,358,953 (GRCm39) |
|
probably null |
Het |
| Zfp74 |
T |
A |
7: 29,634,179 (GRCm39) |
T510S |
probably benign |
Het |
| Zfp808 |
A |
G |
13: 62,317,292 (GRCm39) |
T14A |
probably damaging |
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 |
|
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'- GTGCTTTTGACAACACGCCACC -3'
(R):5'- GGGGACACAGTATTACAGGCTGAAC -3'
Sequencing Primer
(F):5'- CACGCCACCTTCTTAGTATAAAG -3'
(R):5'- ACAGTATTACAGGCTGAACAATAAC -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 [reviewed in (1)]. Abca15 has been cloned rat and mouse; no human orthologue has been described (2). The ABCA15 has two nucleotide-binding folds and two transmembrane domains (2). Abca15 is predominantly expressed in testis, indicating that it may function in testicular development or spermatogenesis (2).
|
| References |
2. Chen, Z. Q., Annilo, T., Shulenin, S., and Dean, M. (2004) Three ATP-Binding Cassette Transporter Genes, Abca14, Abca15, and Abca16, Form a Cluster on Mouse Chromosome 7F3. Mamm Genome. 15, 335-343. |
| Posted On |
2013-04-24 |
| Science Writer |
Anne Murray |
Incidental Mutation