Incidental Mutation 'R9413:Akr7a5'
ID |
731324 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Akr7a5
|
Ensembl Gene |
ENSMUSG00000028743 |
Gene Name |
aldo-keto reductase family 7, member A5 |
Synonyms |
Afar, 0610025K21Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.200)
|
Stock # |
R9413 (G1)
|
Quality Score |
51.0072 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
139038055-139045737 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to T
at 139038059 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134464
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053862]
[ENSMUST00000073787]
[ENSMUST00000105801]
[ENSMUST00000139840]
[ENSMUST00000141007]
[ENSMUST00000172747]
|
AlphaFold |
Q8CG76 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000053862
|
SMART Domains |
Protein: ENSMUSP00000059772 Gene: ENSMUSG00000028744
Domain | Start | End | E-Value | Type |
CTNS
|
51 |
83 |
8.63e-4 |
SMART |
transmembrane domain
|
132 |
149 |
N/A |
INTRINSIC |
CTNS
|
197 |
228 |
1.15e-8 |
SMART |
transmembrane domain
|
251 |
273 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000073787
|
SMART Domains |
Protein: ENSMUSP00000073459 Gene: ENSMUSG00000028743
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
21 |
N/A |
INTRINSIC |
low complexity region
|
25 |
47 |
N/A |
INTRINSIC |
Pfam:Aldo_ket_red
|
48 |
356 |
4.4e-54 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105801
|
SMART Domains |
Protein: ENSMUSP00000101427 Gene: ENSMUSG00000028744
Domain | Start | End | E-Value | Type |
CTNS
|
51 |
83 |
8.63e-4 |
SMART |
transmembrane domain
|
132 |
149 |
N/A |
INTRINSIC |
CTNS
|
197 |
228 |
1.15e-8 |
SMART |
transmembrane domain
|
251 |
273 |
N/A |
INTRINSIC |
low complexity region
|
333 |
344 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139840
|
SMART Domains |
Protein: ENSMUSP00000121362 Gene: ENSMUSG00000028744
Domain | Start | End | E-Value | Type |
CTNS
|
51 |
83 |
8.63e-4 |
SMART |
transmembrane domain
|
132 |
149 |
N/A |
INTRINSIC |
CTNS
|
197 |
228 |
1.15e-8 |
SMART |
transmembrane domain
|
251 |
273 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141007
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172747
|
SMART Domains |
Protein: ENSMUSP00000134464 Gene: ENSMUSG00000028744
Domain | Start | End | E-Value | Type |
CTNS
|
51 |
83 |
8.63e-4 |
SMART |
transmembrane domain
|
132 |
149 |
N/A |
INTRINSIC |
CTNS
|
197 |
228 |
1.15e-8 |
SMART |
transmembrane domain
|
251 |
273 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
97% (35/36) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the aldo/keto reductase (AKR) superfamily and AKR7 family, which are involved in the detoxification of aldehydes and ketones. The AKR7 family consists of 3 genes that are present in a cluster on the p arm of chromosome 1. This protein, thought to be localized in the golgi, catalyzes the NADPH-dependent reduction of succinic semialdehyde to the endogenous neuromodulator, gamma-hydroxybutyrate. It may also function as a detoxication enzyme in the reduction of aflatoxin B1 and 2-carboxybenzaldehyde. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
A |
T |
7: 120,126,422 (GRCm39) |
T1194S |
probably benign |
Het |
Ap3b2 |
G |
T |
7: 81,127,757 (GRCm39) |
P140T |
possibly damaging |
Het |
Ap3s1 |
T |
C |
18: 46,887,531 (GRCm39) |
|
probably null |
Het |
Arrdc2 |
C |
T |
8: 71,288,892 (GRCm39) |
R381H |
probably damaging |
Het |
Atg13 |
T |
C |
2: 91,511,970 (GRCm39) |
D286G |
probably benign |
Het |
C1qtnf4 |
T |
C |
2: 90,720,648 (GRCm39) |
F307S |
probably damaging |
Het |
Cdk5rap1 |
A |
T |
2: 154,207,880 (GRCm39) |
|
probably null |
Het |
Chsy3 |
C |
T |
18: 59,309,170 (GRCm39) |
A141V |
possibly damaging |
Het |
Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
D5Ertd579e |
A |
G |
5: 36,772,278 (GRCm39) |
S706P |
probably damaging |
Het |
Ell2 |
A |
G |
13: 75,917,705 (GRCm39) |
D545G |
|
Het |
Ephb6 |
T |
C |
6: 41,591,509 (GRCm39) |
L222P |
|
Het |
Flnc |
G |
A |
6: 29,441,484 (GRCm39) |
R422Q |
probably benign |
Het |
Gm6619 |
A |
T |
6: 131,468,370 (GRCm39) |
D167V |
unknown |
Het |
Gucy2c |
T |
C |
6: 136,700,771 (GRCm39) |
D581G |
possibly damaging |
Het |
Hectd1 |
G |
A |
12: 51,792,880 (GRCm39) |
R2471* |
probably null |
Het |
Kif1a |
A |
T |
1: 92,949,019 (GRCm39) |
M1501K |
probably benign |
Het |
Mycbpap |
A |
G |
11: 94,392,321 (GRCm39) |
V390A |
probably damaging |
Het |
Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
Pex3 |
A |
G |
10: 13,410,454 (GRCm39) |
Y236H |
probably damaging |
Het |
Pglyrp3 |
G |
T |
3: 91,930,106 (GRCm39) |
A91S |
probably damaging |
Het |
Ppp1ca |
T |
C |
19: 4,244,897 (GRCm39) |
S292P |
probably damaging |
Het |
Prkci |
T |
C |
3: 31,097,915 (GRCm39) |
V455A |
probably damaging |
Het |
Prrx1 |
A |
G |
1: 163,140,182 (GRCm39) |
V8A |
probably benign |
Het |
Psd4 |
C |
T |
2: 24,287,472 (GRCm39) |
T468I |
probably benign |
Het |
Rnf213 |
A |
G |
11: 119,357,059 (GRCm39) |
E4203G |
|
Het |
Snrnp27 |
T |
C |
6: 86,653,255 (GRCm39) |
D121G |
possibly damaging |
Het |
Spag6 |
A |
T |
2: 18,739,029 (GRCm39) |
M320L |
probably benign |
Het |
Spata16 |
T |
A |
3: 26,978,486 (GRCm39) |
M484K |
possibly damaging |
Het |
Trim69 |
G |
A |
2: 122,009,083 (GRCm39) |
W381* |
probably null |
Het |
Tubgcp3 |
A |
C |
8: 12,674,885 (GRCm39) |
I745S |
probably damaging |
Het |
Ubxn2b |
A |
G |
4: 6,204,607 (GRCm39) |
D156G |
probably damaging |
Het |
Vmn2r103 |
A |
G |
17: 20,032,158 (GRCm39) |
N644S |
possibly damaging |
Het |
|
Other mutations in Akr7a5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02156:Akr7a5
|
APN |
4 |
139,041,580 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02469:Akr7a5
|
APN |
4 |
139,041,492 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03155:Akr7a5
|
APN |
4 |
139,041,837 (GRCm39) |
nonsense |
probably null |
|
R1403:Akr7a5
|
UTSW |
4 |
139,045,434 (GRCm39) |
missense |
probably damaging |
0.99 |
R1403:Akr7a5
|
UTSW |
4 |
139,045,434 (GRCm39) |
missense |
probably damaging |
0.99 |
R4288:Akr7a5
|
UTSW |
4 |
139,041,415 (GRCm39) |
missense |
probably benign |
0.02 |
R4585:Akr7a5
|
UTSW |
4 |
139,038,238 (GRCm39) |
missense |
probably benign |
0.09 |
R5067:Akr7a5
|
UTSW |
4 |
139,038,333 (GRCm39) |
missense |
probably damaging |
1.00 |
R5293:Akr7a5
|
UTSW |
4 |
139,041,517 (GRCm39) |
missense |
probably benign |
0.01 |
R6296:Akr7a5
|
UTSW |
4 |
139,045,532 (GRCm39) |
missense |
probably benign |
0.25 |
R9279:Akr7a5
|
UTSW |
4 |
139,044,079 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
Predicted Primers |
PCR Primer
(F):5'- AAAAGACTTAGCTGGGCGCG -3'
(R):5'- AGTACATGAAGGCCGTGTCC -3'
Sequencing Primer
(F):5'- CGTCTGGAGTCCCGACC -3'
(R):5'- GCTAGCACTCGCATCCATG -3'
|
Posted On |
2022-10-24 |