Incidental Mutation 'R4277:Akr1b7'
| ID |
322738 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akr1b7
|
| Ensembl Gene |
ENSMUSG00000052131 |
| Gene Name |
aldo-keto reductase family 1, member B7 |
| Synonyms |
MVDP, Avdp |
| MMRRC Submission |
041078-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R4277 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
34389297-34400072 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 34397955 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007449]
|
| AlphaFold |
P21300 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007449
|
| SMART Domains |
Protein: ENSMUSP00000007449
Gene: ENSMUSG00000052131
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
15 |
294 |
2.1e-60 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150561
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155560
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (33/33) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit disrupted progesterone levels during estrous. Mice homozygous for a different knock-out allele exhibit increased basal adiposity and susceptibility to diet-induced obesity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Cdh20 |
T |
A |
1: 109,993,418 (GRCm39) |
I291K |
probably benign |
Het |
| Cdhr3 |
T |
G |
12: 33,110,232 (GRCm39) |
S351R |
probably null |
Het |
| Dnah10 |
T |
C |
5: 124,809,394 (GRCm39) |
S221P |
probably benign |
Het |
| Dstyk |
G |
A |
1: 132,383,151 (GRCm39) |
|
probably null |
Het |
| Ern1 |
T |
C |
11: 106,298,007 (GRCm39) |
I705V |
probably benign |
Het |
| Folh1 |
A |
G |
7: 86,412,123 (GRCm39) |
|
probably null |
Het |
| Hemk1 |
A |
G |
9: 107,205,728 (GRCm39) |
Y260H |
possibly damaging |
Het |
| Jmjd8 |
A |
G |
17: 26,048,787 (GRCm39) |
|
probably benign |
Het |
| Ldhc |
G |
A |
7: 46,515,890 (GRCm39) |
A62T |
probably benign |
Het |
| Ndufs1 |
C |
T |
1: 63,209,256 (GRCm39) |
V36I |
possibly damaging |
Het |
| Nsun4 |
C |
T |
4: 115,891,479 (GRCm39) |
G300D |
probably damaging |
Het |
| Nsun5 |
A |
G |
5: 135,398,914 (GRCm39) |
Y26C |
probably damaging |
Het |
| Ntn4 |
T |
C |
10: 93,577,072 (GRCm39) |
I580T |
possibly damaging |
Het |
| Or7d10 |
A |
G |
9: 19,831,685 (GRCm39) |
Y60C |
possibly damaging |
Het |
| Rasal2 |
A |
T |
1: 156,984,696 (GRCm39) |
I992N |
possibly damaging |
Het |
| Rasgrp4 |
T |
A |
7: 28,852,019 (GRCm39) |
|
probably benign |
Het |
| Rbp3 |
G |
A |
14: 33,680,607 (GRCm39) |
V1070I |
probably benign |
Het |
| Sp140l1 |
C |
T |
1: 85,066,521 (GRCm39) |
|
probably benign |
Het |
| Spp2 |
T |
C |
1: 88,338,873 (GRCm39) |
F79L |
probably damaging |
Het |
| Tmem260 |
C |
T |
14: 48,715,093 (GRCm39) |
T249M |
probably damaging |
Het |
| Trpv3 |
A |
G |
11: 73,187,264 (GRCm39) |
T699A |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Vegfa |
A |
G |
17: 46,342,392 (GRCm39) |
V142A |
probably benign |
Het |
| Vnn1 |
A |
T |
10: 23,774,410 (GRCm39) |
D151V |
possibly damaging |
Het |
|
| Other mutations in Akr1b7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01402:Akr1b7
|
APN |
6 |
34,398,052 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL02006:Akr1b7
|
APN |
6 |
34,392,385 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02238:Akr1b7
|
APN |
6 |
34,392,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0393:Akr1b7
|
UTSW |
6 |
34,392,335 (GRCm39) |
nonsense |
probably null |
|
|
R1809:Akr1b7
|
UTSW |
6 |
34,396,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2114:Akr1b7
|
UTSW |
6 |
34,395,929 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2115:Akr1b7
|
UTSW |
6 |
34,395,929 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2117:Akr1b7
|
UTSW |
6 |
34,395,929 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5396:Akr1b7
|
UTSW |
6 |
34,389,411 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5504:Akr1b7
|
UTSW |
6 |
34,396,453 (GRCm39) |
splice site |
probably null |
|
|
R6181:Akr1b7
|
UTSW |
6 |
34,392,313 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6657:Akr1b7
|
UTSW |
6 |
34,393,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6815:Akr1b7
|
UTSW |
6 |
34,389,269 (GRCm39) |
splice site |
probably null |
|
|
R7211:Akr1b7
|
UTSW |
6 |
34,398,049 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7246:Akr1b7
|
UTSW |
6 |
34,392,404 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7417:Akr1b7
|
UTSW |
6 |
34,394,300 (GRCm39) |
splice site |
probably null |
|
|
R7572:Akr1b7
|
UTSW |
6 |
34,396,343 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7608:Akr1b7
|
UTSW |
6 |
34,397,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9068:Akr1b7
|
UTSW |
6 |
34,395,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9468:Akr1b7
|
UTSW |
6 |
34,392,316 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGATCATAGGTGGAATGCTGTGC -3'
(R):5'- AGGGAGAGGCCTAATCAACC -3'
Sequencing Primer
(F):5'- ACTGCCTTGTAGACATGGAC -3'
(R):5'- GGAGAGGCCTAATCAACCTCCTAC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation