Incidental Mutation 'R0326:Abca14'
ID |
25847 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abca14
|
Ensembl Gene |
ENSMUSG00000062017 |
Gene Name |
ATP-binding cassette, sub-family A member 14 |
Synonyms |
1700110B15Rik, 4930539G24Rik |
MMRRC Submission |
038536-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0326 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
119803184-119924575 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 119823642 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Aspartic acid
at position 390
(Y390D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081690
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084640]
|
AlphaFold |
E9Q8F8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000084640
AA Change: Y390D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000081690 Gene: ENSMUSG00000062017 AA Change: Y390D
Domain | Start | End | E-Value | Type |
Pfam:ABC2_membrane_3
|
24 |
463 |
5.7e-23 |
PFAM |
AAA
|
548 |
729 |
1.59e-10 |
SMART |
Pfam:ABC2_membrane_3
|
902 |
1296 |
1.2e-36 |
PFAM |
AAA
|
1384 |
1568 |
1.33e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143257
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.8%
- 20x: 91.8%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(1) : Gene trapped(1)
|
Other mutations in this stock |
Total: 99 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AA986860 |
C |
T |
1: 130,670,635 (GRCm39) |
P286S |
possibly damaging |
Het |
Aagab |
T |
A |
9: 63,526,444 (GRCm39) |
S156T |
probably damaging |
Het |
Abcc2 |
T |
A |
19: 43,814,386 (GRCm39) |
I1122N |
possibly damaging |
Het |
Adamts16 |
T |
C |
13: 70,927,730 (GRCm39) |
E503G |
possibly damaging |
Het |
Adamts9 |
A |
T |
6: 92,835,038 (GRCm39) |
C697* |
probably null |
Het |
Adgrv1 |
T |
C |
13: 81,623,112 (GRCm39) |
D3837G |
possibly damaging |
Het |
Ahcyl |
T |
A |
16: 45,974,246 (GRCm39) |
D377V |
probably benign |
Het |
Aire |
T |
A |
10: 77,878,433 (GRCm39) |
R128S |
probably damaging |
Het |
Alkbh2 |
A |
C |
5: 114,262,011 (GRCm39) |
*240E |
probably null |
Het |
Als2 |
T |
C |
1: 59,219,742 (GRCm39) |
Y1191C |
probably damaging |
Het |
Anapc5 |
A |
T |
5: 122,952,667 (GRCm39) |
V186E |
probably benign |
Het |
Apob |
C |
T |
12: 8,040,307 (GRCm39) |
A548V |
probably damaging |
Het |
B3galt4 |
A |
T |
17: 34,169,722 (GRCm39) |
V172E |
probably damaging |
Het |
Bbs7 |
A |
C |
3: 36,646,525 (GRCm39) |
C432G |
possibly damaging |
Het |
Cacna2d3 |
T |
A |
14: 28,767,601 (GRCm39) |
E758V |
probably damaging |
Het |
Cactin |
T |
G |
10: 81,158,496 (GRCm39) |
L154R |
probably benign |
Het |
Ccdc88a |
A |
C |
11: 29,411,021 (GRCm39) |
R502S |
probably benign |
Het |
Ccnf |
A |
T |
17: 24,450,784 (GRCm39) |
I398N |
possibly damaging |
Het |
Chd1 |
A |
T |
17: 15,988,828 (GRCm39) |
D1527V |
probably damaging |
Het |
Chd1 |
A |
T |
17: 15,988,830 (GRCm39) |
M1528L |
probably benign |
Het |
Chrac1 |
G |
A |
15: 72,964,675 (GRCm39) |
|
probably null |
Het |
Cln3 |
T |
G |
7: 126,182,217 (GRCm39) |
M1L |
probably damaging |
Het |
Cnot6 |
T |
C |
11: 49,568,263 (GRCm39) |
Y442C |
probably damaging |
Het |
Col19a1 |
A |
T |
1: 24,324,132 (GRCm39) |
|
probably null |
Het |
Col1a2 |
T |
C |
6: 4,537,838 (GRCm39) |
F1116L |
unknown |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Cops4 |
T |
G |
5: 100,676,408 (GRCm39) |
V53G |
probably damaging |
Het |
Crnkl1 |
A |
G |
2: 145,761,875 (GRCm39) |
S561P |
probably benign |
Het |
Ctnnb1 |
C |
A |
9: 120,780,778 (GRCm39) |
Q99K |
probably benign |
Het |
Cxcr5 |
T |
C |
9: 44,424,578 (GRCm39) |
S360G |
probably benign |
Het |
Dab2 |
G |
A |
15: 6,447,797 (GRCm39) |
V60M |
probably damaging |
Het |
Ddx3y |
A |
T |
Y: 1,263,321 (GRCm39) |
Y648* |
probably null |
Het |
Dennd2a |
T |
A |
6: 39,474,044 (GRCm39) |
D430V |
probably damaging |
Het |
Dsp |
G |
T |
13: 38,376,846 (GRCm39) |
E1544* |
probably null |
Het |
Efcab7 |
A |
T |
4: 99,719,631 (GRCm39) |
M38L |
possibly damaging |
Het |
Fto |
A |
G |
8: 92,136,155 (GRCm39) |
N141S |
probably damaging |
Het |
Gabrp |
A |
G |
11: 33,504,362 (GRCm39) |
F318L |
probably damaging |
Het |
Gmeb1 |
A |
C |
4: 131,969,663 (GRCm39) |
C103W |
probably damaging |
Het |
Heatr9 |
T |
C |
11: 83,405,365 (GRCm39) |
D365G |
probably damaging |
Het |
Hif3a |
G |
A |
7: 16,778,325 (GRCm39) |
R436W |
probably benign |
Het |
Hint2 |
A |
G |
4: 43,654,378 (GRCm39) |
V145A |
probably damaging |
Het |
Hmcn2 |
T |
A |
2: 31,313,237 (GRCm39) |
L3482* |
probably null |
Het |
Hsd3b1 |
A |
T |
3: 98,760,590 (GRCm39) |
Y134N |
probably damaging |
Het |
Impg2 |
T |
A |
16: 56,080,848 (GRCm39) |
V775E |
probably damaging |
Het |
Ipo5 |
A |
G |
14: 121,159,635 (GRCm39) |
I154M |
probably benign |
Het |
Itgad |
T |
A |
7: 127,797,550 (GRCm39) |
F893Y |
probably benign |
Het |
Itprid1 |
A |
T |
6: 55,875,228 (GRCm39) |
M393L |
possibly damaging |
Het |
Kdm4a |
T |
C |
4: 118,018,903 (GRCm39) |
R438G |
probably benign |
Het |
Klk1b11 |
T |
A |
7: 43,425,943 (GRCm39) |
M1K |
probably null |
Het |
Lama5 |
A |
T |
2: 179,824,219 (GRCm39) |
V2602D |
possibly damaging |
Het |
Lrch3 |
T |
C |
16: 32,799,870 (GRCm39) |
S35P |
probably damaging |
Het |
Mfn2 |
A |
G |
4: 147,967,745 (GRCm39) |
L441P |
probably damaging |
Het |
Mgat4c |
A |
T |
10: 102,224,565 (GRCm39) |
I260F |
probably damaging |
Het |
Mon1b |
T |
A |
8: 114,364,375 (GRCm39) |
S51T |
probably benign |
Het |
Myh11 |
T |
C |
16: 14,036,744 (GRCm39) |
D993G |
probably benign |
Het |
Myo1a |
A |
G |
10: 127,552,166 (GRCm39) |
N762D |
probably benign |
Het |
Nacc2 |
A |
T |
2: 25,950,345 (GRCm39) |
Y464N |
probably damaging |
Het |
Nckap1 |
A |
G |
2: 80,383,714 (GRCm39) |
I150T |
probably benign |
Het |
Ndufv2 |
G |
T |
17: 66,387,816 (GRCm39) |
P119T |
probably damaging |
Het |
Noc4l |
G |
A |
5: 110,800,241 (GRCm39) |
R95* |
probably null |
Het |
Ntng1 |
A |
T |
3: 110,042,819 (GRCm39) |
Y2* |
probably null |
Het |
Oog4 |
T |
C |
4: 143,165,773 (GRCm39) |
N53D |
probably benign |
Het |
Or10ak11 |
A |
T |
4: 118,687,022 (GRCm39) |
V205D |
possibly damaging |
Het |
Or4d11 |
C |
T |
19: 12,013,525 (GRCm39) |
V194I |
probably benign |
Het |
Or6c6c |
A |
G |
10: 129,541,638 (GRCm39) |
E297G |
possibly damaging |
Het |
Or9i1b |
C |
T |
19: 13,896,873 (GRCm39) |
T163I |
probably benign |
Het |
Phkg2 |
T |
G |
7: 127,173,075 (GRCm39) |
L11R |
probably damaging |
Het |
Pogz |
A |
G |
3: 94,777,424 (GRCm39) |
D368G |
probably damaging |
Het |
Prex2 |
T |
A |
1: 11,355,289 (GRCm39) |
L1530Q |
probably damaging |
Het |
Prmt1 |
C |
T |
7: 44,628,878 (GRCm39) |
E144K |
probably damaging |
Het |
Prss8 |
T |
A |
7: 127,526,348 (GRCm39) |
I121F |
probably benign |
Het |
Psmd13 |
T |
C |
7: 140,477,624 (GRCm39) |
L314P |
probably damaging |
Het |
Ptch2 |
G |
A |
4: 116,966,081 (GRCm39) |
G467D |
probably damaging |
Het |
Rbm20 |
C |
A |
19: 53,852,596 (GRCm39) |
P1192Q |
probably damaging |
Het |
Rpl19 |
T |
A |
11: 97,919,200 (GRCm39) |
D45E |
probably benign |
Het |
Rsph10b |
C |
T |
5: 143,903,946 (GRCm39) |
A219V |
probably damaging |
Het |
Rtraf |
C |
T |
14: 19,864,600 (GRCm39) |
|
probably null |
Het |
Scaf1 |
T |
A |
7: 44,658,175 (GRCm39) |
T235S |
probably damaging |
Het |
Shank1 |
T |
A |
7: 43,968,594 (GRCm39) |
C296S |
unknown |
Het |
Slc39a7 |
A |
T |
17: 34,247,924 (GRCm39) |
V426D |
probably damaging |
Het |
Slc41a2 |
A |
T |
10: 83,119,610 (GRCm39) |
V384D |
probably damaging |
Het |
Slco1c1 |
T |
C |
6: 141,505,499 (GRCm39) |
L475P |
probably benign |
Het |
Slco6d1 |
A |
C |
1: 98,418,359 (GRCm39) |
K515T |
probably benign |
Het |
Sos2 |
T |
C |
12: 69,682,459 (GRCm39) |
E253G |
probably damaging |
Het |
Sp6 |
G |
T |
11: 96,912,361 (GRCm39) |
D25Y |
possibly damaging |
Het |
Syt11 |
A |
C |
3: 88,669,855 (GRCm39) |
D12E |
possibly damaging |
Het |
Taf2 |
A |
G |
15: 54,910,856 (GRCm39) |
L606P |
probably damaging |
Het |
Tbc1d5 |
A |
G |
17: 51,273,764 (GRCm39) |
Y116H |
probably damaging |
Het |
Tnfrsf8 |
A |
G |
4: 145,015,029 (GRCm39) |
I243T |
possibly damaging |
Het |
Tnxb |
A |
G |
17: 34,917,153 (GRCm39) |
S2183G |
probably benign |
Het |
Trim66 |
T |
C |
7: 109,059,379 (GRCm39) |
Y853C |
probably benign |
Het |
Ttn |
T |
A |
2: 76,567,839 (GRCm39) |
T27685S |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,573,466 (GRCm39) |
E25809G |
probably damaging |
Het |
Uvssa |
G |
A |
5: 33,566,191 (GRCm39) |
G445S |
probably benign |
Het |
Zfp326 |
T |
C |
5: 106,058,141 (GRCm39) |
S427P |
probably damaging |
Het |
Zfp592 |
A |
G |
7: 80,674,637 (GRCm39) |
T534A |
possibly damaging |
Het |
Zfp672 |
A |
G |
11: 58,207,173 (GRCm39) |
S383P |
possibly damaging |
Het |
Zfp799 |
A |
G |
17: 33,039,700 (GRCm39) |
S188P |
possibly damaging |
Het |
Zyg11b |
A |
C |
4: 108,129,450 (GRCm39) |
V54G |
possibly damaging |
Het |
|
Other mutations in Abca14 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00486:Abca14
|
APN |
7 |
119,846,076 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00800:Abca14
|
APN |
7 |
119,854,613 (GRCm39) |
missense |
probably benign |
0.01 |
IGL00845:Abca14
|
APN |
7 |
119,823,174 (GRCm39) |
splice site |
probably benign |
|
IGL00897:Abca14
|
APN |
7 |
119,815,348 (GRCm39) |
splice site |
probably benign |
|
IGL01524:Abca14
|
APN |
7 |
119,852,644 (GRCm39) |
missense |
possibly damaging |
0.57 |
IGL01747:Abca14
|
APN |
7 |
119,877,310 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02214:Abca14
|
APN |
7 |
119,893,398 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02215:Abca14
|
APN |
7 |
119,852,612 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02253:Abca14
|
APN |
7 |
119,807,182 (GRCm39) |
missense |
probably benign |
0.29 |
IGL02302:Abca14
|
APN |
7 |
119,917,968 (GRCm39) |
splice site |
probably benign |
|
IGL03391:Abca14
|
APN |
7 |
119,846,107 (GRCm39) |
missense |
probably damaging |
1.00 |
F6893:Abca14
|
UTSW |
7 |
119,924,261 (GRCm39) |
missense |
probably damaging |
0.98 |
R0109:Abca14
|
UTSW |
7 |
119,917,985 (GRCm39) |
nonsense |
probably null |
|
R0109:Abca14
|
UTSW |
7 |
119,917,985 (GRCm39) |
nonsense |
probably null |
|
R0265:Abca14
|
UTSW |
7 |
119,822,850 (GRCm39) |
missense |
probably benign |
0.03 |
R0380:Abca14
|
UTSW |
7 |
119,877,703 (GRCm39) |
missense |
probably benign |
0.03 |
R0418:Abca14
|
UTSW |
7 |
119,806,657 (GRCm39) |
missense |
probably damaging |
1.00 |
R0539:Abca14
|
UTSW |
7 |
119,807,020 (GRCm39) |
missense |
probably damaging |
1.00 |
R0574:Abca14
|
UTSW |
7 |
119,823,720 (GRCm39) |
missense |
probably damaging |
0.96 |
R0611:Abca14
|
UTSW |
7 |
119,851,479 (GRCm39) |
missense |
possibly damaging |
0.63 |
R0783:Abca14
|
UTSW |
7 |
119,893,380 (GRCm39) |
missense |
probably damaging |
1.00 |
R0785:Abca14
|
UTSW |
7 |
119,893,380 (GRCm39) |
missense |
probably damaging |
1.00 |
R0863:Abca14
|
UTSW |
7 |
119,815,453 (GRCm39) |
missense |
probably benign |
0.03 |
R1034:Abca14
|
UTSW |
7 |
119,815,370 (GRCm39) |
missense |
probably damaging |
1.00 |
R1056:Abca14
|
UTSW |
7 |
119,924,295 (GRCm39) |
missense |
probably damaging |
1.00 |
R1072:Abca14
|
UTSW |
7 |
119,811,992 (GRCm39) |
missense |
probably benign |
|
R1244:Abca14
|
UTSW |
7 |
119,815,561 (GRCm39) |
missense |
probably benign |
0.06 |
R1255:Abca14
|
UTSW |
7 |
119,807,016 (GRCm39) |
missense |
probably damaging |
0.97 |
R1271:Abca14
|
UTSW |
7 |
119,924,340 (GRCm39) |
missense |
probably damaging |
1.00 |
R1325:Abca14
|
UTSW |
7 |
119,846,545 (GRCm39) |
missense |
probably benign |
0.32 |
R1457:Abca14
|
UTSW |
7 |
119,888,683 (GRCm39) |
missense |
probably benign |
0.00 |
R1467:Abca14
|
UTSW |
7 |
119,815,405 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1467:Abca14
|
UTSW |
7 |
119,815,405 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1494:Abca14
|
UTSW |
7 |
119,815,524 (GRCm39) |
missense |
probably benign |
0.00 |
R1551:Abca14
|
UTSW |
7 |
119,918,101 (GRCm39) |
missense |
probably benign |
0.10 |
R1607:Abca14
|
UTSW |
7 |
119,850,514 (GRCm39) |
missense |
probably damaging |
1.00 |
R1739:Abca14
|
UTSW |
7 |
119,877,529 (GRCm39) |
missense |
probably benign |
0.04 |
R1856:Abca14
|
UTSW |
7 |
119,877,404 (GRCm39) |
missense |
probably damaging |
1.00 |
R1875:Abca14
|
UTSW |
7 |
119,847,190 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1892:Abca14
|
UTSW |
7 |
119,815,561 (GRCm39) |
missense |
probably benign |
0.06 |
R1898:Abca14
|
UTSW |
7 |
119,850,392 (GRCm39) |
missense |
probably damaging |
1.00 |
R1958:Abca14
|
UTSW |
7 |
119,924,382 (GRCm39) |
missense |
probably damaging |
0.98 |
R2018:Abca14
|
UTSW |
7 |
119,815,408 (GRCm39) |
missense |
probably benign |
0.00 |
R2039:Abca14
|
UTSW |
7 |
119,911,487 (GRCm39) |
missense |
probably damaging |
0.98 |
R2060:Abca14
|
UTSW |
7 |
119,826,741 (GRCm39) |
nonsense |
probably null |
|
R2202:Abca14
|
UTSW |
7 |
119,888,764 (GRCm39) |
missense |
probably benign |
0.17 |
R2205:Abca14
|
UTSW |
7 |
119,846,503 (GRCm39) |
missense |
probably damaging |
0.98 |
R2360:Abca14
|
UTSW |
7 |
119,850,431 (GRCm39) |
missense |
probably benign |
0.00 |
R2401:Abca14
|
UTSW |
7 |
119,882,312 (GRCm39) |
missense |
probably damaging |
1.00 |
R2426:Abca14
|
UTSW |
7 |
119,882,446 (GRCm39) |
missense |
probably benign |
0.04 |
R3433:Abca14
|
UTSW |
7 |
119,893,455 (GRCm39) |
missense |
probably damaging |
0.97 |
R4598:Abca14
|
UTSW |
7 |
119,854,626 (GRCm39) |
missense |
probably benign |
0.11 |
R4599:Abca14
|
UTSW |
7 |
119,854,626 (GRCm39) |
missense |
probably benign |
0.11 |
R4700:Abca14
|
UTSW |
7 |
119,911,928 (GRCm39) |
critical splice donor site |
probably null |
|
R4751:Abca14
|
UTSW |
7 |
119,911,400 (GRCm39) |
missense |
probably benign |
0.01 |
R4826:Abca14
|
UTSW |
7 |
119,815,470 (GRCm39) |
missense |
probably damaging |
1.00 |
R4828:Abca14
|
UTSW |
7 |
119,815,470 (GRCm39) |
missense |
probably damaging |
1.00 |
R4837:Abca14
|
UTSW |
7 |
119,846,203 (GRCm39) |
missense |
probably benign |
|
R4881:Abca14
|
UTSW |
7 |
119,877,472 (GRCm39) |
missense |
possibly damaging |
0.49 |
R4895:Abca14
|
UTSW |
7 |
119,846,572 (GRCm39) |
critical splice donor site |
probably null |
|
R4928:Abca14
|
UTSW |
7 |
119,923,803 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4990:Abca14
|
UTSW |
7 |
119,911,388 (GRCm39) |
missense |
probably benign |
0.00 |
R5027:Abca14
|
UTSW |
7 |
119,911,505 (GRCm39) |
missense |
probably benign |
0.05 |
R5091:Abca14
|
UTSW |
7 |
119,851,497 (GRCm39) |
missense |
probably damaging |
1.00 |
R5158:Abca14
|
UTSW |
7 |
119,852,652 (GRCm39) |
missense |
probably benign |
|
R5209:Abca14
|
UTSW |
7 |
119,832,130 (GRCm39) |
missense |
probably benign |
0.01 |
R5333:Abca14
|
UTSW |
7 |
119,888,769 (GRCm39) |
nonsense |
probably null |
|
R5424:Abca14
|
UTSW |
7 |
119,810,777 (GRCm39) |
missense |
probably benign |
0.01 |
R5488:Abca14
|
UTSW |
7 |
119,851,473 (GRCm39) |
missense |
probably damaging |
0.98 |
R5489:Abca14
|
UTSW |
7 |
119,851,473 (GRCm39) |
missense |
probably damaging |
0.98 |
R5716:Abca14
|
UTSW |
7 |
119,846,217 (GRCm39) |
critical splice donor site |
probably null |
|
R6450:Abca14
|
UTSW |
7 |
119,815,449 (GRCm39) |
missense |
probably benign |
0.17 |
R6477:Abca14
|
UTSW |
7 |
119,924,325 (GRCm39) |
missense |
probably benign |
0.44 |
R6652:Abca14
|
UTSW |
7 |
119,846,164 (GRCm39) |
missense |
probably damaging |
1.00 |
R6782:Abca14
|
UTSW |
7 |
119,847,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R6874:Abca14
|
UTSW |
7 |
119,851,428 (GRCm39) |
missense |
possibly damaging |
0.71 |
R6965:Abca14
|
UTSW |
7 |
119,882,452 (GRCm39) |
nonsense |
probably null |
|
R7142:Abca14
|
UTSW |
7 |
119,850,406 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7146:Abca14
|
UTSW |
7 |
119,854,520 (GRCm39) |
missense |
probably benign |
0.15 |
R7202:Abca14
|
UTSW |
7 |
119,917,236 (GRCm39) |
missense |
probably damaging |
1.00 |
R7220:Abca14
|
UTSW |
7 |
119,826,667 (GRCm39) |
missense |
possibly damaging |
0.45 |
R7241:Abca14
|
UTSW |
7 |
119,846,184 (GRCm39) |
missense |
probably damaging |
1.00 |
R7291:Abca14
|
UTSW |
7 |
119,888,832 (GRCm39) |
nonsense |
probably null |
|
R7296:Abca14
|
UTSW |
7 |
119,877,534 (GRCm39) |
missense |
probably benign |
|
R7298:Abca14
|
UTSW |
7 |
119,807,106 (GRCm39) |
missense |
probably benign |
0.00 |
R7315:Abca14
|
UTSW |
7 |
119,893,341 (GRCm39) |
missense |
probably benign |
0.00 |
R7776:Abca14
|
UTSW |
7 |
119,832,214 (GRCm39) |
critical splice donor site |
probably null |
|
R7820:Abca14
|
UTSW |
7 |
119,811,944 (GRCm39) |
missense |
probably benign |
0.42 |
R7873:Abca14
|
UTSW |
7 |
119,888,792 (GRCm39) |
missense |
probably benign |
0.17 |
R8215:Abca14
|
UTSW |
7 |
119,893,425 (GRCm39) |
missense |
probably benign |
|
R8332:Abca14
|
UTSW |
7 |
119,815,436 (GRCm39) |
missense |
probably benign |
|
R8419:Abca14
|
UTSW |
7 |
119,815,489 (GRCm39) |
missense |
probably benign |
0.08 |
R8444:Abca14
|
UTSW |
7 |
119,918,133 (GRCm39) |
missense |
probably damaging |
1.00 |
R8818:Abca14
|
UTSW |
7 |
119,815,524 (GRCm39) |
missense |
probably benign |
0.00 |
R8834:Abca14
|
UTSW |
7 |
119,877,372 (GRCm39) |
missense |
probably benign |
0.02 |
R8845:Abca14
|
UTSW |
7 |
119,846,428 (GRCm39) |
missense |
probably benign |
0.00 |
R8889:Abca14
|
UTSW |
7 |
119,815,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R8892:Abca14
|
UTSW |
7 |
119,815,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R8894:Abca14
|
UTSW |
7 |
119,847,368 (GRCm39) |
missense |
probably damaging |
1.00 |
R8903:Abca14
|
UTSW |
7 |
119,815,526 (GRCm39) |
missense |
probably damaging |
0.98 |
R8950:Abca14
|
UTSW |
7 |
119,823,595 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8950:Abca14
|
UTSW |
7 |
119,823,644 (GRCm39) |
nonsense |
probably null |
|
R9018:Abca14
|
UTSW |
7 |
119,918,532 (GRCm39) |
missense |
probably damaging |
0.98 |
R9018:Abca14
|
UTSW |
7 |
119,888,763 (GRCm39) |
missense |
probably benign |
0.01 |
R9110:Abca14
|
UTSW |
7 |
119,831,615 (GRCm39) |
intron |
probably benign |
|
R9254:Abca14
|
UTSW |
7 |
119,807,202 (GRCm39) |
nonsense |
probably null |
|
R9376:Abca14
|
UTSW |
7 |
119,893,438 (GRCm39) |
missense |
probably damaging |
1.00 |
R9378:Abca14
|
UTSW |
7 |
119,807,191 (GRCm39) |
missense |
possibly damaging |
0.64 |
R9379:Abca14
|
UTSW |
7 |
119,807,202 (GRCm39) |
nonsense |
probably null |
|
R9388:Abca14
|
UTSW |
7 |
119,882,261 (GRCm39) |
missense |
probably benign |
0.01 |
R9445:Abca14
|
UTSW |
7 |
119,877,691 (GRCm39) |
missense |
probably benign |
0.05 |
R9522:Abca14
|
UTSW |
7 |
119,847,368 (GRCm39) |
missense |
probably null |
0.98 |
R9577:Abca14
|
UTSW |
7 |
119,810,768 (GRCm39) |
missense |
probably benign |
0.27 |
R9627:Abca14
|
UTSW |
7 |
119,854,530 (GRCm39) |
missense |
probably benign |
0.00 |
R9639:Abca14
|
UTSW |
7 |
119,893,345 (GRCm39) |
missense |
probably benign |
0.01 |
R9660:Abca14
|
UTSW |
7 |
119,851,478 (GRCm39) |
missense |
probably benign |
0.00 |
R9696:Abca14
|
UTSW |
7 |
119,888,734 (GRCm39) |
missense |
possibly damaging |
0.59 |
R9709:Abca14
|
UTSW |
7 |
119,888,739 (GRCm39) |
nonsense |
probably null |
|
R9780:Abca14
|
UTSW |
7 |
119,911,447 (GRCm39) |
missense |
probably benign |
0.00 |
Z1088:Abca14
|
UTSW |
7 |
119,815,358 (GRCm39) |
missense |
probably benign |
0.14 |
Z1176:Abca14
|
UTSW |
7 |
119,846,146 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Abca14
|
UTSW |
7 |
119,917,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AAACTCTCGTTCAGGAAGCAACCTC -3'
(R):5'- GGCAGGAACACTCAAACTACCCTTTAG -3'
Sequencing Primer
(F):5'- gtgatatagtggcaggcaaaag -3'
(R):5'- cctgctctcccccactc -3'
|
Nature of Mutation |
Multiple transcripts of the Abca14 gene are displayed on Ensembl.
|
Protein Function and Prediction |
The Abca14 gene encodes a 1683 amino acid protein that belongs to the ATP-binding cassette (ABC) transporter superfamily. These transporters use the hydrolysis of ATP to export or import a wide variety of substrates ranging from small ions to macromolecules. The members of the ABCA subfamily share a high degree of sequence conservation and function in lipid trafficking in several body locations. Abca14 has been cloned rat and mouse; no human orthologue has been described. The ABCA14 has two nucleotide-binding folds and two transmembrane domains. Abca14 is predominantly expressed in testis, indicating that it may function in testicular development or spermatogenesis.
|
Posted On |
2013-04-16 |