Incidental Mutation 'R0835:Abca16'
ID |
77826 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abca16
|
Ensembl Gene |
ENSMUSG00000051900 |
Gene Name |
ATP-binding cassette, sub-family A member 16 |
Synonyms |
|
MMRRC Submission |
039014-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0835 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
120008870-120144036 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 120065007 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 555
(T555A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112736
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056042]
[ENSMUST00000120490]
|
AlphaFold |
E9PWJ7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000056042
AA Change: T554A
PolyPhen 2
Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000061094 Gene: ENSMUSG00000051900 AA Change: T554A
Domain | Start | End | E-Value | Type |
Pfam:ABC2_membrane_3
|
26 |
455 |
2.7e-23 |
PFAM |
AAA
|
537 |
720 |
2.01e-7 |
SMART |
Pfam:ABC2_membrane_3
|
898 |
1287 |
4.6e-25 |
PFAM |
low complexity region
|
1325 |
1336 |
N/A |
INTRINSIC |
low complexity region
|
1342 |
1353 |
N/A |
INTRINSIC |
AAA
|
1378 |
1563 |
4.23e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000120490
AA Change: T555A
PolyPhen 2
Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000112736 Gene: ENSMUSG00000051900 AA Change: T555A
Domain | Start | End | E-Value | Type |
Pfam:ABC2_membrane_3
|
25 |
456 |
2.4e-22 |
PFAM |
AAA
|
538 |
721 |
2.01e-7 |
SMART |
Pfam:ABC2_membrane_3
|
899 |
1288 |
1.1e-27 |
PFAM |
low complexity region
|
1326 |
1337 |
N/A |
INTRINSIC |
low complexity region
|
1343 |
1354 |
N/A |
INTRINSIC |
AAA
|
1379 |
1564 |
4.23e-6 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144122
|
SMART Domains |
Protein: ENSMUSP00000114975 Gene: ENSMUSG00000051900
Domain | Start | End | E-Value | Type |
Pfam:ABC2_membrane_3
|
2 |
133 |
1e-16 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.2%
- 20x: 90.7%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(4) : Targeted(3) Gene trapped(1)
|
Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034J05Rik |
G |
T |
6: 146,855,036 (GRCm39) |
|
probably benign |
Het |
Abca4 |
A |
T |
3: 121,919,862 (GRCm39) |
D1048V |
probably damaging |
Het |
Abcf2 |
G |
T |
5: 24,779,251 (GRCm39) |
T99N |
probably damaging |
Het |
Acan |
A |
T |
7: 78,763,980 (GRCm39) |
S2119C |
probably damaging |
Het |
Adgre4 |
G |
A |
17: 56,106,637 (GRCm39) |
C292Y |
probably damaging |
Het |
Alk |
A |
G |
17: 72,176,837 (GRCm39) |
F1489S |
probably damaging |
Het |
Ampd2 |
A |
G |
3: 107,983,818 (GRCm39) |
V573A |
possibly damaging |
Het |
Aoc1 |
T |
C |
6: 48,882,448 (GRCm39) |
F130S |
probably damaging |
Het |
Bbs2 |
A |
T |
8: 94,801,887 (GRCm39) |
I554N |
probably damaging |
Het |
Cacna2d4 |
C |
T |
6: 119,284,247 (GRCm39) |
R745W |
probably damaging |
Het |
Cbfa2t3 |
T |
C |
8: 123,374,517 (GRCm39) |
H76R |
probably benign |
Het |
Cdc14a |
G |
T |
3: 116,122,171 (GRCm39) |
N216K |
probably benign |
Het |
Cep126 |
T |
C |
9: 8,130,224 (GRCm39) |
Y69C |
probably damaging |
Het |
Cep135 |
A |
T |
5: 76,763,553 (GRCm39) |
R514S |
probably benign |
Het |
Cfi |
A |
T |
3: 129,662,191 (GRCm39) |
Y390F |
probably damaging |
Het |
Chd8 |
T |
C |
14: 52,441,482 (GRCm39) |
D870G |
probably benign |
Het |
Clptm1 |
A |
G |
7: 19,369,599 (GRCm39) |
V437A |
possibly damaging |
Het |
Coro2b |
T |
C |
9: 62,333,119 (GRCm39) |
N422S |
possibly damaging |
Het |
Coro7 |
T |
C |
16: 4,450,118 (GRCm39) |
E577G |
probably benign |
Het |
Crh |
G |
A |
3: 19,748,528 (GRCm39) |
P38L |
probably benign |
Het |
Ctif |
T |
A |
18: 75,568,407 (GRCm39) |
D577V |
probably damaging |
Het |
Deup1 |
T |
A |
9: 15,511,047 (GRCm39) |
Q244L |
probably damaging |
Het |
Dhx16 |
A |
G |
17: 36,192,581 (GRCm39) |
E171G |
probably damaging |
Het |
Dnah11 |
A |
C |
12: 117,880,523 (GRCm39) |
Y3866D |
probably damaging |
Het |
Dync1i2 |
C |
T |
2: 71,081,316 (GRCm39) |
L508F |
probably damaging |
Het |
Dync2h1 |
T |
A |
9: 7,116,642 (GRCm39) |
|
probably null |
Het |
E2f4 |
C |
T |
8: 106,027,140 (GRCm39) |
Q235* |
probably null |
Het |
Eif2b3 |
A |
G |
4: 116,916,002 (GRCm39) |
H203R |
probably damaging |
Het |
Epha5 |
A |
T |
5: 84,534,101 (GRCm39) |
W77R |
probably damaging |
Het |
Gpx6 |
C |
T |
13: 21,501,238 (GRCm39) |
P109S |
probably damaging |
Het |
Gsdmc4 |
A |
T |
15: 63,765,649 (GRCm39) |
V300E |
probably damaging |
Het |
Gspt1 |
A |
C |
16: 11,056,802 (GRCm39) |
S198A |
probably benign |
Het |
Ift70a2 |
T |
C |
2: 75,808,494 (GRCm39) |
N6S |
probably benign |
Het |
Itpk1 |
C |
T |
12: 102,641,707 (GRCm39) |
V39M |
probably damaging |
Het |
Kremen2 |
G |
T |
17: 23,961,811 (GRCm39) |
P232Q |
probably damaging |
Het |
Lamtor4 |
C |
A |
5: 138,257,320 (GRCm39) |
T74K |
probably benign |
Het |
Mbtd1 |
T |
A |
11: 93,822,665 (GRCm39) |
F492I |
probably benign |
Het |
Mroh1 |
G |
T |
15: 76,336,083 (GRCm39) |
V1486F |
probably damaging |
Het |
Myg1 |
G |
A |
15: 102,240,537 (GRCm39) |
V76M |
probably damaging |
Het |
Myo16 |
G |
T |
8: 10,322,766 (GRCm39) |
Q65H |
probably damaging |
Het |
Ncapg |
A |
G |
5: 45,838,790 (GRCm39) |
E487G |
probably damaging |
Het |
Ncoa5 |
T |
C |
2: 164,844,714 (GRCm39) |
E332G |
probably damaging |
Het |
Nek6 |
T |
A |
2: 38,459,643 (GRCm39) |
I162N |
possibly damaging |
Het |
Nwd2 |
C |
A |
5: 63,957,473 (GRCm39) |
R268S |
probably damaging |
Het |
Or4c11 |
T |
C |
2: 88,695,345 (GRCm39) |
V132A |
probably benign |
Het |
Or9a7 |
T |
C |
6: 40,521,272 (GRCm39) |
I214V |
probably benign |
Het |
Palm3 |
T |
G |
8: 84,754,776 (GRCm39) |
S141A |
probably benign |
Het |
Pbrm1 |
T |
C |
14: 30,789,536 (GRCm39) |
F728L |
probably damaging |
Het |
Phf3 |
A |
G |
1: 30,869,632 (GRCm39) |
V472A |
probably benign |
Het |
Plekha5 |
T |
A |
6: 140,514,576 (GRCm39) |
L35* |
probably null |
Het |
Ppp1r16a |
C |
T |
15: 76,577,869 (GRCm39) |
Q328* |
probably null |
Het |
Ppp6r2 |
G |
A |
15: 89,152,785 (GRCm39) |
E309K |
possibly damaging |
Het |
Ptpn6 |
T |
A |
6: 124,704,499 (GRCm39) |
|
probably null |
Het |
Rasgrf1 |
T |
C |
9: 89,882,824 (GRCm39) |
V882A |
probably benign |
Het |
Ryr3 |
T |
G |
2: 112,480,483 (GRCm39) |
E4335D |
probably benign |
Het |
Slc12a5 |
T |
A |
2: 164,835,958 (GRCm39) |
I892N |
probably damaging |
Het |
Slc22a2 |
G |
A |
17: 12,831,318 (GRCm39) |
M369I |
probably benign |
Het |
Sox10 |
A |
T |
15: 79,040,641 (GRCm39) |
Y300N |
probably damaging |
Het |
Speg |
T |
C |
1: 75,352,318 (GRCm39) |
F79L |
probably benign |
Het |
Sult1b1 |
T |
A |
5: 87,665,311 (GRCm39) |
I208L |
probably benign |
Het |
Syt9 |
A |
G |
7: 107,105,737 (GRCm39) |
N460S |
probably benign |
Het |
Tecpr1 |
T |
A |
5: 144,149,410 (GRCm39) |
N339I |
possibly damaging |
Het |
Tmem63b |
C |
A |
17: 45,971,870 (GRCm39) |
D782Y |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,725,105 (GRCm39) |
|
probably benign |
Het |
Upk3bl |
G |
T |
5: 136,086,185 (GRCm39) |
R40S |
probably benign |
Het |
Usp28 |
T |
C |
9: 48,912,824 (GRCm39) |
I25T |
probably damaging |
Het |
Vmn2r27 |
A |
G |
6: 124,177,583 (GRCm39) |
Y474H |
probably damaging |
Het |
Vps13a |
A |
T |
19: 16,712,246 (GRCm39) |
|
probably null |
Het |
Wdr36 |
A |
T |
18: 32,982,135 (GRCm39) |
N371I |
possibly damaging |
Het |
Wnt7b |
A |
G |
15: 85,421,978 (GRCm39) |
F228S |
probably damaging |
Het |
Xirp2 |
T |
C |
2: 67,338,254 (GRCm39) |
I165T |
possibly damaging |
Het |
Zan |
T |
G |
5: 137,406,659 (GRCm39) |
|
probably benign |
Het |
Zfp760 |
A |
G |
17: 21,942,559 (GRCm39) |
D578G |
possibly damaging |
Het |
Zfyve19 |
T |
A |
2: 119,041,266 (GRCm39) |
S61T |
probably benign |
Het |
Zfyve9 |
T |
C |
4: 108,575,866 (GRCm39) |
D405G |
probably damaging |
Het |
|
Other mutations in Abca16 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00417:Abca16
|
APN |
7 |
120,022,982 (GRCm39) |
missense |
probably benign |
0.08 |
IGL00590:Abca16
|
APN |
7 |
120,023,038 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01320:Abca16
|
APN |
7 |
120,038,422 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01322:Abca16
|
APN |
7 |
120,038,422 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01613:Abca16
|
APN |
7 |
120,140,500 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01774:Abca16
|
APN |
7 |
120,021,024 (GRCm39) |
splice site |
probably benign |
|
IGL01774:Abca16
|
APN |
7 |
120,077,058 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01797:Abca16
|
APN |
7 |
120,113,760 (GRCm39) |
missense |
probably benign |
0.15 |
IGL02406:Abca16
|
APN |
7 |
120,139,825 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02437:Abca16
|
APN |
7 |
120,132,952 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02541:Abca16
|
APN |
7 |
120,113,881 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02576:Abca16
|
APN |
7 |
120,032,678 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02578:Abca16
|
APN |
7 |
120,023,179 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03156:Abca16
|
APN |
7 |
120,023,074 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL03381:Abca16
|
APN |
7 |
120,127,041 (GRCm39) |
missense |
probably benign |
0.12 |
PIT4802001:Abca16
|
UTSW |
7 |
120,139,351 (GRCm39) |
missense |
probably benign |
0.31 |
R0024:Abca16
|
UTSW |
7 |
120,032,608 (GRCm39) |
missense |
probably damaging |
1.00 |
R0026:Abca16
|
UTSW |
7 |
120,077,146 (GRCm39) |
splice site |
probably benign |
|
R0026:Abca16
|
UTSW |
7 |
120,077,146 (GRCm39) |
splice site |
probably benign |
|
R0123:Abca16
|
UTSW |
7 |
120,139,378 (GRCm39) |
missense |
probably damaging |
1.00 |
R0134:Abca16
|
UTSW |
7 |
120,139,378 (GRCm39) |
missense |
probably damaging |
1.00 |
R0225:Abca16
|
UTSW |
7 |
120,139,378 (GRCm39) |
missense |
probably damaging |
1.00 |
R0346:Abca16
|
UTSW |
7 |
120,035,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R0355:Abca16
|
UTSW |
7 |
120,023,021 (GRCm39) |
missense |
possibly damaging |
0.68 |
R0358:Abca16
|
UTSW |
7 |
120,143,939 (GRCm39) |
missense |
probably benign |
0.01 |
R0525:Abca16
|
UTSW |
7 |
120,065,033 (GRCm39) |
nonsense |
probably null |
|
R0617:Abca16
|
UTSW |
7 |
120,032,834 (GRCm39) |
splice site |
probably benign |
|
R0625:Abca16
|
UTSW |
7 |
120,035,116 (GRCm39) |
missense |
probably damaging |
1.00 |
R1445:Abca16
|
UTSW |
7 |
120,119,256 (GRCm39) |
missense |
probably benign |
0.41 |
R1535:Abca16
|
UTSW |
7 |
120,139,928 (GRCm39) |
missense |
probably benign |
0.30 |
R1567:Abca16
|
UTSW |
7 |
120,030,352 (GRCm39) |
missense |
probably benign |
0.08 |
R1694:Abca16
|
UTSW |
7 |
120,119,307 (GRCm39) |
missense |
probably damaging |
1.00 |
R1860:Abca16
|
UTSW |
7 |
120,133,986 (GRCm39) |
missense |
probably benign |
0.02 |
R1876:Abca16
|
UTSW |
7 |
120,032,608 (GRCm39) |
missense |
probably damaging |
1.00 |
R1913:Abca16
|
UTSW |
7 |
120,140,463 (GRCm39) |
missense |
probably benign |
0.04 |
R1940:Abca16
|
UTSW |
7 |
120,032,832 (GRCm39) |
splice site |
probably benign |
|
R2042:Abca16
|
UTSW |
7 |
120,143,941 (GRCm39) |
missense |
probably benign |
|
R2115:Abca16
|
UTSW |
7 |
120,139,868 (GRCm39) |
missense |
probably damaging |
1.00 |
R2122:Abca16
|
UTSW |
7 |
120,119,184 (GRCm39) |
missense |
probably damaging |
1.00 |
R2265:Abca16
|
UTSW |
7 |
120,030,383 (GRCm39) |
missense |
probably benign |
0.03 |
R2267:Abca16
|
UTSW |
7 |
120,030,383 (GRCm39) |
missense |
probably benign |
0.03 |
R2269:Abca16
|
UTSW |
7 |
120,030,383 (GRCm39) |
missense |
probably benign |
0.03 |
R2993:Abca16
|
UTSW |
7 |
120,134,384 (GRCm39) |
missense |
probably damaging |
1.00 |
R3055:Abca16
|
UTSW |
7 |
120,035,074 (GRCm39) |
missense |
probably benign |
0.05 |
R3956:Abca16
|
UTSW |
7 |
120,126,975 (GRCm39) |
missense |
probably damaging |
0.96 |
R4114:Abca16
|
UTSW |
7 |
120,126,290 (GRCm39) |
missense |
probably benign |
0.06 |
R4441:Abca16
|
UTSW |
7 |
120,127,024 (GRCm39) |
missense |
probably benign |
0.04 |
R4601:Abca16
|
UTSW |
7 |
120,035,920 (GRCm39) |
missense |
probably damaging |
0.98 |
R4706:Abca16
|
UTSW |
7 |
120,064,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R4807:Abca16
|
UTSW |
7 |
120,139,832 (GRCm39) |
missense |
probably damaging |
1.00 |
R4824:Abca16
|
UTSW |
7 |
120,074,702 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4937:Abca16
|
UTSW |
7 |
120,126,309 (GRCm39) |
missense |
probably damaging |
0.98 |
R5152:Abca16
|
UTSW |
7 |
120,139,846 (GRCm39) |
missense |
probably benign |
0.02 |
R5257:Abca16
|
UTSW |
7 |
120,035,992 (GRCm39) |
critical splice donor site |
probably null |
|
R5258:Abca16
|
UTSW |
7 |
120,035,992 (GRCm39) |
critical splice donor site |
probably null |
|
R5330:Abca16
|
UTSW |
7 |
120,102,600 (GRCm39) |
missense |
probably benign |
0.15 |
R5388:Abca16
|
UTSW |
7 |
120,139,969 (GRCm39) |
critical splice donor site |
probably null |
|
R5590:Abca16
|
UTSW |
7 |
120,143,995 (GRCm39) |
missense |
probably damaging |
0.98 |
R5810:Abca16
|
UTSW |
7 |
120,035,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R6030:Abca16
|
UTSW |
7 |
120,133,021 (GRCm39) |
missense |
probably benign |
|
R6030:Abca16
|
UTSW |
7 |
120,133,021 (GRCm39) |
missense |
probably benign |
|
R6161:Abca16
|
UTSW |
7 |
120,139,934 (GRCm39) |
missense |
probably damaging |
1.00 |
R6313:Abca16
|
UTSW |
7 |
120,126,344 (GRCm39) |
missense |
probably damaging |
1.00 |
R6485:Abca16
|
UTSW |
7 |
120,026,390 (GRCm39) |
nonsense |
probably null |
|
R6527:Abca16
|
UTSW |
7 |
120,076,995 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6772:Abca16
|
UTSW |
7 |
120,126,276 (GRCm39) |
missense |
probably damaging |
1.00 |
R6885:Abca16
|
UTSW |
7 |
120,119,332 (GRCm39) |
missense |
probably benign |
0.07 |
R6899:Abca16
|
UTSW |
7 |
120,126,264 (GRCm39) |
missense |
probably damaging |
1.00 |
R6941:Abca16
|
UTSW |
7 |
120,140,370 (GRCm39) |
missense |
probably damaging |
1.00 |
R6990:Abca16
|
UTSW |
7 |
120,126,950 (GRCm39) |
missense |
probably benign |
0.00 |
R7059:Abca16
|
UTSW |
7 |
120,020,971 (GRCm39) |
missense |
probably benign |
0.00 |
R7144:Abca16
|
UTSW |
7 |
120,032,796 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7146:Abca16
|
UTSW |
7 |
120,126,974 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7193:Abca16
|
UTSW |
7 |
120,026,409 (GRCm39) |
missense |
probably damaging |
1.00 |
R7308:Abca16
|
UTSW |
7 |
120,022,993 (GRCm39) |
missense |
probably benign |
0.01 |
R7449:Abca16
|
UTSW |
7 |
120,035,131 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7571:Abca16
|
UTSW |
7 |
120,119,211 (GRCm39) |
missense |
probably benign |
0.11 |
R7617:Abca16
|
UTSW |
7 |
120,102,694 (GRCm39) |
nonsense |
probably null |
|
R7646:Abca16
|
UTSW |
7 |
120,113,937 (GRCm39) |
missense |
probably benign |
0.04 |
R7750:Abca16
|
UTSW |
7 |
120,113,928 (GRCm39) |
missense |
probably benign |
0.09 |
R7763:Abca16
|
UTSW |
7 |
120,113,825 (GRCm39) |
missense |
probably damaging |
1.00 |
R7840:Abca16
|
UTSW |
7 |
120,074,689 (GRCm39) |
missense |
probably benign |
0.00 |
R7946:Abca16
|
UTSW |
7 |
120,126,398 (GRCm39) |
missense |
probably benign |
0.01 |
R8018:Abca16
|
UTSW |
7 |
120,132,866 (GRCm39) |
missense |
probably benign |
0.04 |
R8170:Abca16
|
UTSW |
7 |
120,065,005 (GRCm39) |
missense |
probably damaging |
1.00 |
R8413:Abca16
|
UTSW |
7 |
120,023,123 (GRCm39) |
missense |
probably benign |
0.06 |
R8461:Abca16
|
UTSW |
7 |
120,035,918 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8858:Abca16
|
UTSW |
7 |
120,052,327 (GRCm39) |
missense |
probably benign |
|
R8881:Abca16
|
UTSW |
7 |
120,074,794 (GRCm39) |
missense |
probably benign |
0.18 |
R9272:Abca16
|
UTSW |
7 |
120,076,993 (GRCm39) |
missense |
probably benign |
0.13 |
R9303:Abca16
|
UTSW |
7 |
120,126,989 (GRCm39) |
missense |
probably benign |
0.25 |
R9305:Abca16
|
UTSW |
7 |
120,126,989 (GRCm39) |
missense |
probably benign |
0.25 |
R9320:Abca16
|
UTSW |
7 |
120,139,320 (GRCm39) |
missense |
probably damaging |
0.98 |
R9413:Abca16
|
UTSW |
7 |
120,126,422 (GRCm39) |
missense |
probably benign |
0.01 |
R9512:Abca16
|
UTSW |
7 |
120,022,963 (GRCm39) |
missense |
probably benign |
0.01 |
R9559:Abca16
|
UTSW |
7 |
120,021,019 (GRCm39) |
critical splice donor site |
probably null |
|
R9615:Abca16
|
UTSW |
7 |
120,126,404 (GRCm39) |
missense |
probably benign |
0.01 |
R9641:Abca16
|
UTSW |
7 |
120,126,308 (GRCm39) |
missense |
possibly damaging |
0.52 |
R9643:Abca16
|
UTSW |
7 |
120,065,023 (GRCm39) |
missense |
possibly damaging |
0.96 |
R9674:Abca16
|
UTSW |
7 |
120,074,668 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9714:Abca16
|
UTSW |
7 |
120,030,383 (GRCm39) |
missense |
probably benign |
0.01 |
R9799:Abca16
|
UTSW |
7 |
120,132,998 (GRCm39) |
missense |
probably benign |
0.00 |
R9800:Abca16
|
UTSW |
7 |
120,119,283 (GRCm39) |
missense |
possibly damaging |
0.68 |
RF020:Abca16
|
UTSW |
7 |
120,132,880 (GRCm39) |
missense |
possibly damaging |
0.90 |
X0066:Abca16
|
UTSW |
7 |
120,102,609 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCAGGCTGAGCCCATTTCTGGATA -3'
(R):5'- GCATTTCCTCTGGATTGGTACAACCTTT -3'
Sequencing Primer
(F):5'- GAGTTTCCTTTGGACCTAACAAC -3'
(R):5'- gtctcctactgctgcctttg -3'
|
Protein Function and Prediction |
Abca16 encodes ABCA16, 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. Abca16 has been cloned rat and mouse; no human orthologue has been described. The ABCA16 has two nucleotide-binding folds and two transmembrane domains. Abca16 is predominantly expressed in testis, indicating that it may function in testicular development or spermatogenesis.
|
Posted On |
2013-10-16 |