Incidental Mutation 'R0539:Abca14'
| ID |
49702 |
| 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 |
038731-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0539 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
119803184-119924575 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 119807020 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 22
(R22Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081690
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084640]
|
| AlphaFold |
E9Q8F8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084640
AA Change: R22Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000081690
Gene: ENSMUSG00000062017
AA Change: R22Q
| 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: ENSMUST00000130646
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134268
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143257
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
| Validation Efficiency |
100% (107/107) |
| Allele List at MGI |
All alleles(1) : Gene trapped(1)
|
| Other mutations in this stock |
Total: 108 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730480H06Rik |
T |
A |
5: 48,536,692 (GRCm39) |
H129Q |
probably damaging |
Het |
| Abcg5 |
T |
A |
17: 84,976,503 (GRCm39) |
M445L |
probably benign |
Het |
| Abhd3 |
T |
A |
18: 10,645,208 (GRCm39) |
N357I |
possibly damaging |
Het |
| Adamts5 |
C |
T |
16: 85,665,580 (GRCm39) |
G574S |
probably damaging |
Het |
| Adgrg5 |
T |
A |
8: 95,665,260 (GRCm39) |
N389K |
probably damaging |
Het |
| Ankk1 |
A |
G |
9: 49,329,330 (GRCm39) |
V80A |
probably benign |
Het |
| Arhgap20 |
A |
G |
9: 51,761,455 (GRCm39) |
Q1066R |
probably benign |
Het |
| Arhgap21 |
T |
A |
2: 20,919,610 (GRCm39) |
K32* |
probably null |
Het |
| AW209491 |
T |
C |
13: 14,812,317 (GRCm39) |
F390S |
probably damaging |
Het |
| Axl |
A |
T |
7: 25,478,142 (GRCm39) |
|
probably benign |
Het |
| Bri3bp |
A |
G |
5: 125,531,603 (GRCm39) |
Y183C |
probably damaging |
Het |
| Cad |
T |
C |
5: 31,232,801 (GRCm39) |
|
probably benign |
Het |
| Capns2 |
A |
G |
8: 93,628,360 (GRCm39) |
Q83R |
possibly damaging |
Het |
| Ccdc180 |
G |
T |
4: 45,922,010 (GRCm39) |
R1028L |
probably damaging |
Het |
| Cdh19 |
C |
A |
1: 110,852,892 (GRCm39) |
V348F |
possibly damaging |
Het |
| Chrm2 |
T |
C |
6: 36,500,641 (GRCm39) |
V166A |
possibly damaging |
Het |
| Clmp |
A |
G |
9: 40,693,782 (GRCm39) |
Y333C |
probably benign |
Het |
| Cntn3 |
A |
G |
6: 102,254,178 (GRCm39) |
|
probably null |
Het |
| Copz1 |
A |
G |
15: 103,199,792 (GRCm39) |
Y69C |
probably damaging |
Het |
| Crybg1 |
T |
C |
10: 43,874,894 (GRCm39) |
D738G |
probably benign |
Het |
| Ctnna2 |
T |
A |
6: 76,950,882 (GRCm39) |
I165F |
probably damaging |
Het |
| Dcaf7 |
T |
G |
11: 105,942,652 (GRCm39) |
S200A |
probably damaging |
Het |
| Deup1 |
T |
A |
9: 15,493,893 (GRCm39) |
R416S |
possibly damaging |
Het |
| Dmxl1 |
T |
A |
18: 49,990,497 (GRCm39) |
|
probably benign |
Het |
| Dnaaf11 |
A |
T |
15: 66,319,455 (GRCm39) |
V305D |
probably damaging |
Het |
| Dnase2b |
A |
T |
3: 146,294,910 (GRCm39) |
|
probably benign |
Het |
| Dst |
C |
T |
1: 34,228,200 (GRCm39) |
P1606L |
probably damaging |
Het |
| Eef2 |
C |
CN |
10: 81,014,602 (GRCm39) |
|
probably null |
Het |
| Ephb2 |
T |
C |
4: 136,383,287 (GRCm39) |
Y931C |
probably damaging |
Het |
| Fam83h |
T |
C |
15: 75,875,076 (GRCm39) |
S754G |
possibly damaging |
Het |
| Fibp |
T |
A |
19: 5,513,216 (GRCm39) |
V177D |
probably damaging |
Het |
| Gfpt2 |
T |
C |
11: 49,723,725 (GRCm39) |
I571T |
probably damaging |
Het |
| Grm7 |
T |
G |
6: 111,336,055 (GRCm39) |
|
probably benign |
Het |
| Gsdma3 |
A |
G |
11: 98,526,745 (GRCm39) |
Y335C |
probably damaging |
Het |
| H2-T23 |
A |
T |
17: 36,343,033 (GRCm39) |
|
probably benign |
Het |
| H4c3 |
A |
G |
13: 23,882,131 (GRCm39) |
F101S |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,249,704 (GRCm39) |
I2216V |
probably benign |
Het |
| Ipo8 |
A |
G |
6: 148,719,606 (GRCm39) |
M113T |
probably benign |
Het |
| Kdm6a |
A |
G |
X: 18,128,664 (GRCm39) |
E1045G |
probably damaging |
Het |
| Kyat1 |
C |
T |
2: 30,078,229 (GRCm39) |
E117K |
probably damaging |
Het |
| Lin7b |
A |
G |
7: 45,019,326 (GRCm39) |
|
probably benign |
Het |
| Lipn |
G |
A |
19: 34,062,003 (GRCm39) |
|
probably benign |
Het |
| Lrfn2 |
C |
A |
17: 49,378,072 (GRCm39) |
N384K |
probably damaging |
Het |
| Map1b |
T |
C |
13: 99,570,526 (GRCm39) |
K732E |
unknown |
Het |
| Mpl |
A |
G |
4: 118,300,705 (GRCm39) |
M541T |
possibly damaging |
Het |
| Mprip |
T |
C |
11: 59,631,943 (GRCm39) |
|
probably benign |
Het |
| Mrc1 |
T |
C |
2: 14,274,937 (GRCm39) |
|
probably benign |
Het |
| Ms4a13 |
T |
C |
19: 11,149,235 (GRCm39) |
|
probably benign |
Het |
| Myo18b |
G |
T |
5: 112,871,734 (GRCm39) |
R2116S |
probably damaging |
Het |
| Nav2 |
A |
G |
7: 49,111,686 (GRCm39) |
T731A |
probably damaging |
Het |
| Ncoa6 |
G |
T |
2: 155,257,617 (GRCm39) |
A642D |
probably benign |
Het |
| Ndufs7 |
T |
A |
10: 80,090,665 (GRCm39) |
|
probably benign |
Het |
| Nfkbiz |
G |
A |
16: 55,638,242 (GRCm39) |
T406M |
probably benign |
Het |
| Nr4a1 |
A |
G |
15: 101,168,765 (GRCm39) |
E267G |
probably damaging |
Het |
| Nrxn2 |
T |
G |
19: 6,543,434 (GRCm39) |
F1103V |
probably damaging |
Het |
| Or10ab4 |
C |
T |
7: 107,655,029 (GRCm39) |
T280I |
probably damaging |
Het |
| Or10d3 |
A |
T |
9: 39,461,593 (GRCm39) |
D191E |
probably damaging |
Het |
| Or1e22 |
T |
C |
11: 73,376,889 (GRCm39) |
T254A |
probably benign |
Het |
| Or5a3 |
C |
T |
19: 12,400,173 (GRCm39) |
L167F |
probably damaging |
Het |
| Or5g27 |
T |
A |
2: 85,410,119 (GRCm39) |
C179S |
probably damaging |
Het |
| Or5m11 |
G |
T |
2: 85,782,353 (GRCm39) |
M315I |
probably benign |
Het |
| Or8u9 |
A |
T |
2: 86,001,387 (GRCm39) |
M258K |
probably damaging |
Het |
| Phf1 |
A |
G |
17: 27,153,432 (GRCm39) |
|
probably null |
Het |
| Pip |
C |
T |
6: 41,826,819 (GRCm39) |
Q53* |
probably null |
Het |
| Ppp2ca |
T |
C |
11: 52,008,989 (GRCm39) |
|
probably null |
Het |
| Prl2c5 |
A |
G |
13: 13,363,906 (GRCm39) |
|
probably null |
Het |
| Psph |
T |
A |
5: 129,843,641 (GRCm39) |
|
probably benign |
Het |
| Ptch1 |
C |
T |
13: 63,691,294 (GRCm39) |
|
probably benign |
Het |
| Ptprs |
C |
T |
17: 56,765,255 (GRCm39) |
V10M |
probably damaging |
Het |
| Rarg |
T |
C |
15: 102,147,312 (GRCm39) |
R358G |
probably damaging |
Het |
| Rbl2 |
T |
C |
8: 91,839,133 (GRCm39) |
|
probably benign |
Het |
| Robo2 |
A |
T |
16: 73,782,462 (GRCm39) |
|
probably benign |
Het |
| Scin |
A |
T |
12: 40,131,765 (GRCm39) |
D256E |
possibly damaging |
Het |
| Scn8a |
T |
C |
15: 100,914,449 (GRCm39) |
Y1152H |
probably damaging |
Het |
| Sh2b2 |
T |
G |
5: 136,254,155 (GRCm39) |
|
probably benign |
Het |
| Slc13a2 |
G |
A |
11: 78,289,964 (GRCm39) |
P450L |
probably damaging |
Het |
| Slc2a12 |
A |
G |
10: 22,568,129 (GRCm39) |
I519V |
probably benign |
Het |
| Slc30a9 |
C |
T |
5: 67,491,953 (GRCm39) |
T260M |
probably damaging |
Het |
| Slc9a7 |
A |
T |
X: 20,069,001 (GRCm39) |
F184Y |
probably damaging |
Het |
| Smc2 |
G |
T |
4: 52,458,558 (GRCm39) |
K466N |
probably benign |
Het |
| Snx16 |
T |
C |
3: 10,491,278 (GRCm39) |
E209G |
probably damaging |
Het |
| Sp3 |
A |
T |
2: 72,800,876 (GRCm39) |
I423N |
possibly damaging |
Het |
| Ssh2 |
G |
T |
11: 77,345,620 (GRCm39) |
V1202F |
probably benign |
Het |
| Stam2 |
A |
T |
2: 52,593,268 (GRCm39) |
|
probably benign |
Het |
| Stox2 |
T |
C |
8: 47,647,070 (GRCm39) |
Y194C |
probably damaging |
Het |
| Sult3a1 |
A |
G |
10: 33,742,519 (GRCm39) |
T49A |
probably damaging |
Het |
| Supt3 |
A |
T |
17: 45,314,018 (GRCm39) |
I136F |
possibly damaging |
Het |
| Syne2 |
A |
T |
12: 76,070,895 (GRCm39) |
R103S |
possibly damaging |
Het |
| Synj2 |
T |
A |
17: 6,047,163 (GRCm39) |
M1K |
probably null |
Het |
| Tas2r110 |
T |
C |
6: 132,845,334 (GRCm39) |
S122P |
possibly damaging |
Het |
| Tln1 |
A |
G |
4: 43,543,434 (GRCm39) |
|
probably null |
Het |
| Tmem117 |
A |
G |
15: 94,612,793 (GRCm39) |
T110A |
possibly damaging |
Het |
| Tmem247 |
A |
G |
17: 87,224,906 (GRCm39) |
D5G |
probably benign |
Het |
| Tmem39a |
T |
A |
16: 38,411,337 (GRCm39) |
F363I |
probably benign |
Het |
| Tmem80 |
G |
A |
7: 140,915,808 (GRCm39) |
A73T |
possibly damaging |
Het |
| Trpm4 |
C |
T |
7: 44,954,896 (GRCm39) |
G901S |
probably damaging |
Het |
| Upk3bl |
T |
C |
5: 136,092,840 (GRCm39) |
|
probably benign |
Het |
| Vmn1r120 |
A |
T |
7: 20,787,397 (GRCm39) |
C105S |
probably damaging |
Het |
| Vmn1r69 |
A |
T |
7: 10,314,874 (GRCm39) |
|
probably benign |
Het |
| Vmn2r95 |
T |
C |
17: 18,672,362 (GRCm39) |
F700L |
probably damaging |
Het |
| Wdr70 |
G |
A |
15: 7,915,118 (GRCm39) |
T550M |
possibly damaging |
Het |
| Zbtb22 |
A |
G |
17: 34,137,118 (GRCm39) |
D421G |
possibly damaging |
Het |
| Zbtb45 |
G |
A |
7: 12,740,260 (GRCm39) |
R452C |
probably damaging |
Het |
| Zfhx3 |
T |
C |
8: 109,527,141 (GRCm39) |
Y1013H |
probably damaging |
Het |
| Zfp329 |
C |
T |
7: 12,540,520 (GRCm39) |
|
probably null |
Het |
| Zfp532 |
T |
A |
18: 65,756,837 (GRCm39) |
S257T |
probably benign |
Het |
| Zfp933 |
G |
A |
4: 147,911,005 (GRCm39) |
T197I |
probably benign |
Het |
| Zgrf1 |
T |
A |
3: 127,408,841 (GRCm39) |
N1649K |
probably 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 |
|
R0326:Abca14
|
UTSW |
7 |
119,823,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- TGAAGCAGTTTTCAGTCCTCCTGTG -3'
(R):5'- TGCTGCATTACTCTCAGAAGGCAC -3'
Sequencing Primer
(F):5'- TAGCCCTGCTTAGTCTGAAGAAC -3'
(R):5'- GCATTACTCTCAGAAGGCACATAAG -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 |
2013-06-12 |
Incidental Mutation