Incidental Mutation 'R4323:Akr1b1'
| ID |
323909 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akr1b1
|
| Ensembl Gene |
ENSMUSG00000001642 |
| Gene Name |
aldo-keto reductase family 1 member B |
| Synonyms |
Aldr1, Ahr1, AR, Ahr-1, Akr1b3, ALR2, Aldor1 |
| MMRRC Submission |
041094-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.379)
|
| Stock # |
R4323 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
34280865-34294424 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34287862 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 166
(T166A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114391
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102980]
[ENSMUST00000154655]
|
| AlphaFold |
P45376 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102980
AA Change: T143A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000100045
Gene: ENSMUSG00000001642
AA Change: T143A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
13 |
294 |
4.1e-56 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126991
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136559
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138275
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142761
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154655
AA Change: T166A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000114391
Gene: ENSMUSG00000001642
AA Change: T166A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
15 |
176 |
9.2e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201392
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
95% (59/62) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member catalyzes the reduction of a number of aldehydes, including the aldehyde form of glucose, and is thereby implicated in the development of diabetic complications by catalyzing the reduction of glucose to sorbitol. Multiple pseudogenes have been identified for this gene. The nomenclature system used by the HUGO Gene Nomenclature Committee to define human aldo-keto reductase family members is known to differ from that used by the Mouse Genome Informatics database. [provided by RefSeq, Feb 2009]
PHENOTYPE: Homozygous mutation of this gene results in increased drinking, increased urination, and dilation of the renal tubules. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933430I17Rik |
A |
G |
4: 62,465,548 (GRCm39) |
Y414C |
probably damaging |
Het |
| Ankhd1 |
C |
T |
18: 36,711,686 (GRCm39) |
S94L |
probably damaging |
Het |
| B4galt3 |
G |
T |
1: 171,103,515 (GRCm39) |
M68I |
possibly damaging |
Het |
| Bpnt1 |
A |
C |
1: 185,088,786 (GRCm39) |
H312P |
probably benign |
Het |
| Ccdc178 |
T |
A |
18: 22,166,600 (GRCm39) |
K530* |
probably null |
Het |
| Ccdc191 |
A |
G |
16: 43,767,872 (GRCm39) |
E624G |
probably damaging |
Het |
| Clasp2 |
T |
C |
9: 113,719,027 (GRCm39) |
V724A |
possibly damaging |
Het |
| Copa |
G |
T |
1: 171,946,831 (GRCm39) |
C1022F |
probably damaging |
Het |
| Cwf19l2 |
T |
G |
9: 3,430,452 (GRCm39) |
F261L |
probably damaging |
Het |
| Esr1 |
G |
A |
10: 4,951,307 (GRCm39) |
V562M |
possibly damaging |
Het |
| Fap |
T |
C |
2: 62,333,716 (GRCm39) |
H643R |
probably damaging |
Het |
| Fbxo38 |
T |
A |
18: 62,648,232 (GRCm39) |
M769L |
probably benign |
Het |
| Fgfr1 |
A |
G |
8: 26,063,915 (GRCm39) |
N814S |
probably benign |
Het |
| Hipk3 |
C |
A |
2: 104,276,916 (GRCm39) |
V388L |
probably damaging |
Het |
| Hspa1l |
T |
A |
17: 35,196,832 (GRCm39) |
Y290* |
probably null |
Het |
| Itsn1 |
G |
A |
16: 91,615,440 (GRCm39) |
|
probably benign |
Het |
| Jam2 |
T |
C |
16: 84,619,744 (GRCm39) |
|
probably benign |
Het |
| Kprp |
G |
A |
3: 92,732,163 (GRCm39) |
R296W |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,746,603 (GRCm39) |
I14T |
probably benign |
Het |
| Mitf |
A |
G |
6: 97,968,910 (GRCm39) |
Y10C |
probably benign |
Het |
| Mpo |
T |
C |
11: 87,686,865 (GRCm39) |
S165P |
probably damaging |
Het |
| Neb |
T |
G |
2: 52,154,122 (GRCm39) |
M2330L |
possibly damaging |
Het |
| Nup214 |
T |
C |
2: 31,884,696 (GRCm39) |
S486P |
probably benign |
Het |
| Or2y1f |
G |
A |
11: 49,184,503 (GRCm39) |
M118I |
probably damaging |
Het |
| Parp6 |
G |
A |
9: 59,537,969 (GRCm39) |
V205I |
possibly damaging |
Het |
| Pate2 |
A |
T |
9: 35,581,767 (GRCm39) |
|
probably benign |
Het |
| Pdss1 |
T |
C |
2: 22,802,608 (GRCm39) |
|
probably benign |
Het |
| Pira13 |
A |
G |
7: 3,825,754 (GRCm39) |
S372P |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Septin1 |
G |
A |
7: 126,816,200 (GRCm39) |
P77S |
probably damaging |
Het |
| Slitrk3 |
A |
G |
3: 72,958,118 (GRCm39) |
L218P |
probably damaging |
Het |
| Sltm |
T |
C |
9: 70,487,529 (GRCm39) |
I521T |
probably benign |
Het |
| Smchd1 |
A |
G |
17: 71,735,270 (GRCm39) |
I618T |
probably benign |
Het |
| Sox6 |
A |
G |
7: 115,179,798 (GRCm39) |
|
probably null |
Het |
| Sp8 |
A |
G |
12: 118,812,171 (GRCm39) |
I9V |
probably benign |
Het |
| Usp9y |
T |
A |
Y: 1,434,407 (GRCm39) |
M352L |
possibly damaging |
Het |
| Vmn1r46 |
T |
C |
6: 89,953,349 (GRCm39) |
M66T |
probably benign |
Het |
| Vmn2r111 |
A |
T |
17: 22,792,159 (GRCm39) |
N32K |
probably benign |
Het |
| Vmn2r63 |
A |
G |
7: 42,576,406 (GRCm39) |
F469S |
probably benign |
Het |
| Vps13d |
T |
A |
4: 144,879,348 (GRCm39) |
T1486S |
probably benign |
Het |
| Wdr55 |
A |
G |
18: 36,896,153 (GRCm39) |
N281S |
probably benign |
Het |
| Zswim6 |
G |
A |
13: 108,025,938 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Akr1b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02806:Akr1b1
|
APN |
6 |
34,281,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0567:Akr1b1
|
UTSW |
6 |
34,281,280 (GRCm39) |
splice site |
probably null |
|
|
R0611:Akr1b1
|
UTSW |
6 |
34,286,577 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1564:Akr1b1
|
UTSW |
6 |
34,283,470 (GRCm39) |
splice site |
probably null |
|
|
R2445:Akr1b1
|
UTSW |
6 |
34,287,869 (GRCm39) |
missense |
probably benign |
0.26 |
|
R2507:Akr1b1
|
UTSW |
6 |
34,286,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4373:Akr1b1
|
UTSW |
6 |
34,281,202 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4606:Akr1b1
|
UTSW |
6 |
34,283,599 (GRCm39) |
unclassified |
probably benign |
|
|
R5513:Akr1b1
|
UTSW |
6 |
34,293,581 (GRCm39) |
intron |
probably benign |
|
|
R6031:Akr1b1
|
UTSW |
6 |
34,289,609 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6031:Akr1b1
|
UTSW |
6 |
34,289,609 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6560:Akr1b1
|
UTSW |
6 |
34,286,939 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6561:Akr1b1
|
UTSW |
6 |
34,286,939 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6632:Akr1b1
|
UTSW |
6 |
34,286,939 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6654:Akr1b1
|
UTSW |
6 |
34,286,939 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6655:Akr1b1
|
UTSW |
6 |
34,286,939 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6657:Akr1b1
|
UTSW |
6 |
34,286,939 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6658:Akr1b1
|
UTSW |
6 |
34,286,939 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6662:Akr1b1
|
UTSW |
6 |
34,286,939 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8209:Akr1b1
|
UTSW |
6 |
34,288,867 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8226:Akr1b1
|
UTSW |
6 |
34,288,867 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8921:Akr1b1
|
UTSW |
6 |
34,289,639 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9802:Akr1b1
|
UTSW |
6 |
34,283,508 (GRCm39) |
missense |
probably benign |
0.25 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACAGATGTGCCCTCCCATC -3'
(R):5'- CATCTTGGCTACCACATATGCC -3'
Sequencing Primer
(F):5'- GATGTGCCCTCCCATCCACAG -3'
(R):5'- GGCTACCACATATGCCTCTTC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation