Incidental Mutation 'R0525:Abca16'
| ID |
48845 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abca16
|
| Ensembl Gene |
ENSMUSG00000051900 |
| Gene Name |
ATP-binding cassette, sub-family A member 16 |
| Synonyms |
|
| MMRRC Submission |
038718-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0525 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
120008870-120144036 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to G
at 120065033 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 563
(Y563*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112736
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056042]
[ENSMUST00000120490]
|
| AlphaFold |
E9PWJ7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000056042
AA Change: Y562*
|
| SMART Domains |
Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: Y562*
| 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 null
Transcript: ENSMUST00000120490
AA Change: Y563*
|
| SMART Domains |
Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: Y563*
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
100% (72/72) |
| Allele List at MGI |
All alleles(4) : Targeted(3) Gene trapped(1)
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933440M02Rik |
T |
A |
7: 124,930,671 (GRCm39) |
|
noncoding transcript |
Het |
| A930002H24Rik |
A |
G |
17: 64,170,642 (GRCm39) |
W49R |
unknown |
Het |
| Abca13 |
G |
A |
11: 9,243,371 (GRCm39) |
V1745M |
probably damaging |
Het |
| Acot12 |
C |
T |
13: 91,908,186 (GRCm39) |
|
probably benign |
Het |
| Alms1 |
G |
A |
6: 85,564,742 (GRCm39) |
A39T |
unknown |
Het |
| Arid5b |
T |
C |
10: 67,933,676 (GRCm39) |
D742G |
possibly damaging |
Het |
| Atp1a4 |
G |
A |
1: 172,067,255 (GRCm39) |
|
probably benign |
Het |
| AU021092 |
T |
A |
16: 5,035,725 (GRCm39) |
E145V |
possibly damaging |
Het |
| Calr4 |
A |
T |
4: 109,099,461 (GRCm39) |
|
probably benign |
Het |
| Clip4 |
T |
A |
17: 72,106,093 (GRCm39) |
|
probably null |
Het |
| Cnpy4 |
A |
T |
5: 138,190,878 (GRCm39) |
H180L |
probably benign |
Het |
| Cyp2j9 |
T |
C |
4: 96,467,802 (GRCm39) |
|
probably null |
Het |
| Dgkq |
A |
G |
5: 108,802,481 (GRCm39) |
S406P |
probably damaging |
Het |
| Dhx8 |
G |
A |
11: 101,654,754 (GRCm39) |
C1014Y |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,527,977 (GRCm39) |
Y3824C |
probably damaging |
Het |
| Donson |
A |
T |
16: 91,483,133 (GRCm39) |
H69Q |
probably damaging |
Het |
| Dppa3 |
A |
G |
6: 122,606,939 (GRCm39) |
E143G |
probably damaging |
Het |
| Drg1 |
A |
G |
11: 3,212,545 (GRCm39) |
F96L |
probably damaging |
Het |
| Dvl1 |
A |
C |
4: 155,940,052 (GRCm39) |
T395P |
probably damaging |
Het |
| Eftud2 |
A |
T |
11: 102,730,079 (GRCm39) |
V897D |
probably damaging |
Het |
| Enpp6 |
A |
G |
8: 47,535,478 (GRCm39) |
N341S |
possibly damaging |
Het |
| F11 |
A |
G |
8: 45,706,086 (GRCm39) |
F100L |
probably benign |
Het |
| Fas |
T |
C |
19: 34,296,727 (GRCm39) |
Y189H |
probably damaging |
Het |
| Galnt14 |
G |
T |
17: 73,852,076 (GRCm39) |
S114R |
probably damaging |
Het |
| Gfpt2 |
A |
G |
11: 49,720,602 (GRCm39) |
I528V |
probably benign |
Het |
| Glt6d1 |
A |
G |
2: 25,684,280 (GRCm39) |
V242A |
possibly damaging |
Het |
| Grm1 |
A |
T |
10: 10,594,953 (GRCm39) |
|
probably benign |
Het |
| Gskip |
G |
A |
12: 105,665,224 (GRCm39) |
A88T |
probably damaging |
Het |
| Gtpbp1 |
A |
G |
15: 79,597,648 (GRCm39) |
I348V |
probably benign |
Het |
| Hnrnpul1 |
C |
A |
7: 25,440,308 (GRCm39) |
R316L |
possibly damaging |
Het |
| Il34 |
T |
C |
8: 111,474,915 (GRCm39) |
E121G |
probably damaging |
Het |
| Lrr1 |
T |
C |
12: 69,215,685 (GRCm39) |
L19P |
probably damaging |
Het |
| Mat2b |
A |
G |
11: 40,573,496 (GRCm39) |
|
probably benign |
Het |
| Mettl21e |
T |
C |
1: 44,245,542 (GRCm39) |
K235E |
probably damaging |
Het |
| Mir124-2hg |
T |
A |
3: 17,839,693 (GRCm39) |
E126V |
possibly damaging |
Het |
| Myh15 |
A |
G |
16: 48,952,414 (GRCm39) |
K828R |
probably benign |
Het |
| Myom3 |
A |
G |
4: 135,492,237 (GRCm39) |
D127G |
possibly damaging |
Het |
| Nek5 |
C |
A |
8: 22,569,093 (GRCm39) |
|
probably benign |
Het |
| Nudt7 |
A |
T |
8: 114,878,392 (GRCm39) |
|
probably null |
Het |
| Or10ag56 |
A |
T |
2: 87,139,693 (GRCm39) |
T187S |
probably benign |
Het |
| Or10d4c |
T |
G |
9: 39,558,767 (GRCm39) |
C248W |
probably damaging |
Het |
| Or1j4 |
T |
C |
2: 36,740,202 (GRCm39) |
L48P |
probably damaging |
Het |
| Or4a67 |
G |
A |
2: 88,597,658 (GRCm39) |
Q334* |
probably null |
Het |
| Or8k23 |
C |
T |
2: 86,186,619 (GRCm39) |
V36I |
probably benign |
Het |
| Phyhd1 |
A |
G |
2: 30,171,040 (GRCm39) |
H241R |
probably damaging |
Het |
| Pmch |
T |
C |
10: 87,927,262 (GRCm39) |
|
probably benign |
Het |
| Ror1 |
A |
G |
4: 100,298,717 (GRCm39) |
S697G |
probably damaging |
Het |
| Rslcan18 |
A |
G |
13: 67,260,322 (GRCm39) |
V25A |
probably benign |
Het |
| Sema6b |
T |
C |
17: 56,433,630 (GRCm39) |
H426R |
probably damaging |
Het |
| Serpina3g |
T |
C |
12: 104,204,598 (GRCm39) |
F9S |
probably damaging |
Het |
| Serpinb12 |
T |
A |
1: 106,874,432 (GRCm39) |
H52Q |
probably benign |
Het |
| Sh3gl1 |
T |
C |
17: 56,324,873 (GRCm39) |
K294R |
probably benign |
Het |
| Sidt1 |
G |
T |
16: 44,079,809 (GRCm39) |
T615K |
possibly damaging |
Het |
| Slc16a4 |
A |
C |
3: 107,205,255 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
T |
A |
1: 93,199,696 (GRCm39) |
|
probably null |
Het |
| Sp2 |
A |
T |
11: 96,846,924 (GRCm39) |
|
probably benign |
Het |
| Steap1 |
T |
A |
5: 5,792,903 (GRCm39) |
I3F |
possibly damaging |
Het |
| Stxbp5l |
A |
T |
16: 36,950,159 (GRCm39) |
|
probably null |
Het |
| Tbc1d9 |
G |
T |
8: 83,995,614 (GRCm39) |
V968F |
probably benign |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Triobp |
T |
C |
15: 78,858,098 (GRCm39) |
L1233P |
possibly damaging |
Het |
| Trp53bp1 |
C |
A |
2: 121,082,349 (GRCm39) |
A317S |
probably null |
Het |
| Trpc4ap |
A |
G |
2: 155,482,398 (GRCm39) |
F531L |
possibly damaging |
Het |
| Ugt1a10 |
C |
T |
1: 88,145,971 (GRCm39) |
P473L |
probably damaging |
Het |
| Vmn1r86 |
T |
C |
7: 12,836,088 (GRCm39) |
K213E |
probably benign |
Het |
| Vps8 |
G |
A |
16: 21,358,859 (GRCm39) |
|
probably null |
Het |
| Wnk1 |
A |
T |
6: 119,903,525 (GRCm39) |
S2563T |
probably damaging |
Het |
| Yrdc |
C |
G |
4: 124,745,559 (GRCm39) |
R3G |
probably damaging |
Het |
| Zfp287 |
A |
T |
11: 62,606,070 (GRCm39) |
V279E |
probably benign |
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 |
|
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 |
|
R0835:Abca16
|
UTSW |
7 |
120,065,007 (GRCm39) |
missense |
probably benign |
0.42 |
|
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 [reviewed in (1)]. Abca16 has been cloned rat and mouse; no human orthologue has been described (2). The ABCA16 has two nucleotide-binding folds and two transmembrane domains (2). Abca16 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 |
2013-06-12 |
| Science Writer |
Anne Murray |
Incidental Mutation