Incidental Mutation 'IGL00482:Akr1b10'
| ID |
6369 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Akr1b10
|
| Ensembl Gene |
ENSMUSG00000061758 |
| Gene Name |
aldo-keto reductase family 1, member B10 |
| Synonyms |
2310005E10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
IGL00482
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
34361182-34373884 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 34365837 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138639
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038383]
[ENSMUST00000115051]
[ENSMUST00000139156]
|
| AlphaFold |
G5E895 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038383
|
| SMART Domains |
Protein: ENSMUSP00000039114
Gene: ENSMUSG00000061758
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
15 |
294 |
2.1e-61 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115051
|
| SMART Domains |
Protein: ENSMUSP00000110703
Gene: ENSMUSG00000061758
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
18 |
266 |
2e-53 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139156
|
| SMART Domains |
Protein: ENSMUSP00000138639
Gene: ENSMUSG00000061758
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
15 |
128 |
2.3e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144072
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144384
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182055
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
G |
5: 114,338,350 (GRCm39) |
T722A |
probably damaging |
Het |
| Amy1 |
G |
T |
3: 113,349,781 (GRCm39) |
T463K |
probably damaging |
Het |
| Arid4b |
T |
C |
13: 14,365,719 (GRCm39) |
|
probably benign |
Het |
| Arl2 |
A |
G |
19: 6,191,082 (GRCm39) |
L17P |
probably damaging |
Het |
| C2cd2 |
T |
C |
16: 97,671,420 (GRCm39) |
E493G |
probably damaging |
Het |
| Cdk19 |
A |
G |
10: 40,345,644 (GRCm39) |
E239G |
possibly damaging |
Het |
| Cit |
A |
G |
5: 116,076,814 (GRCm39) |
D719G |
probably damaging |
Het |
| Commd3 |
T |
C |
2: 18,678,739 (GRCm39) |
V58A |
possibly damaging |
Het |
| Cyp2c29 |
A |
C |
19: 39,313,467 (GRCm39) |
D360A |
probably damaging |
Het |
| Eps8 |
A |
G |
6: 137,482,477 (GRCm39) |
Y492H |
probably benign |
Het |
| Gk |
A |
G |
X: 84,804,207 (GRCm39) |
L78P |
possibly damaging |
Het |
| Gm5884 |
A |
T |
6: 128,623,166 (GRCm39) |
|
noncoding transcript |
Het |
| Lat2 |
A |
T |
5: 134,635,630 (GRCm39) |
|
probably null |
Het |
| Lrrc4c |
C |
A |
2: 97,460,730 (GRCm39) |
S452* |
probably null |
Het |
| Ntsr2 |
T |
C |
12: 16,709,849 (GRCm39) |
C377R |
probably damaging |
Het |
| Padi3 |
A |
C |
4: 140,530,935 (GRCm39) |
M29R |
possibly damaging |
Het |
| Pcdh9 |
A |
G |
14: 93,564,130 (GRCm39) |
S1067P |
probably damaging |
Het |
| Prrc2a |
T |
C |
17: 35,373,959 (GRCm39) |
D1462G |
probably damaging |
Het |
| Rassf4 |
A |
G |
6: 116,622,089 (GRCm39) |
F168L |
possibly damaging |
Het |
| Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
| Siglec1 |
C |
T |
2: 130,921,245 (GRCm39) |
R642Q |
probably benign |
Het |
| Snrnp200 |
T |
G |
2: 127,072,055 (GRCm39) |
V1214G |
possibly damaging |
Het |
| Sorcs3 |
G |
A |
19: 48,592,303 (GRCm39) |
G323S |
probably benign |
Het |
| Spidr |
A |
G |
16: 15,932,833 (GRCm39) |
V149A |
possibly damaging |
Het |
| Stat4 |
A |
T |
1: 52,113,856 (GRCm39) |
I189F |
probably benign |
Het |
| Tep1 |
T |
C |
14: 51,080,641 (GRCm39) |
Y1387C |
probably damaging |
Het |
| Tmprss9 |
G |
A |
10: 80,730,262 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Akr1b10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00840:Akr1b10
|
APN |
6 |
34,371,041 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL01906:Akr1b10
|
APN |
6 |
34,364,746 (GRCm39) |
missense |
probably benign |
|
|
R0552:Akr1b10
|
UTSW |
6 |
34,369,920 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0732:Akr1b10
|
UTSW |
6 |
34,367,044 (GRCm39) |
missense |
probably benign |
|
|
R1371:Akr1b10
|
UTSW |
6 |
34,369,394 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1895:Akr1b10
|
UTSW |
6 |
34,365,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3704:Akr1b10
|
UTSW |
6 |
34,371,690 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3704:Akr1b10
|
UTSW |
6 |
34,371,689 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3975:Akr1b10
|
UTSW |
6 |
34,369,431 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4020:Akr1b10
|
UTSW |
6 |
34,369,388 (GRCm39) |
missense |
probably benign |
0.42 |
|
R4573:Akr1b10
|
UTSW |
6 |
34,369,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5062:Akr1b10
|
UTSW |
6 |
34,369,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5540:Akr1b10
|
UTSW |
6 |
34,371,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6012:Akr1b10
|
UTSW |
6 |
34,364,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6021:Akr1b10
|
UTSW |
6 |
34,369,309 (GRCm39) |
splice site |
probably null |
|
|
R6256:Akr1b10
|
UTSW |
6 |
34,364,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7963:Akr1b10
|
UTSW |
6 |
34,364,643 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8696:Akr1b10
|
UTSW |
6 |
34,369,067 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9049:Akr1b10
|
UTSW |
6 |
34,373,561 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9417:Akr1b10
|
UTSW |
6 |
34,371,027 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation