Incidental Mutation 'R5067:Akr7a5'
ID |
458167 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Akr7a5
|
Ensembl Gene |
ENSMUSG00000028743 |
Gene Name |
aldo-keto reductase family 7, member A5 |
Synonyms |
Afar, 0610025K21Rik |
MMRRC Submission |
042657-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.200)
|
Stock # |
R5067 (G1)
|
Quality Score |
50 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
139038055-139045737 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 139038333 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 90
(S90P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000073459
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053862]
[ENSMUST00000073787]
[ENSMUST00000105801]
[ENSMUST00000139840]
[ENSMUST00000141007]
[ENSMUST00000172747]
|
AlphaFold |
Q8CG76 |
PDB Structure |
MOUSE SUCCINIC SEMIALDEHYDE REDUCTASE, AKR7A5 [X-RAY DIFFRACTION]
|
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 damaging
Transcript: ENSMUST00000073787
AA Change: S90P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000073459 Gene: ENSMUSG00000028743 AA Change: S90P
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 |
|
Meta Mutation Damage Score |
0.6324 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.3%
|
Validation Efficiency |
100% (54/54) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak2 |
T |
C |
12: 112,748,936 (GRCm39) |
N304D |
probably benign |
Het |
Aplnr |
T |
A |
2: 84,967,128 (GRCm39) |
V51E |
probably damaging |
Het |
Arhgap21 |
A |
T |
2: 20,884,848 (GRCm39) |
H776Q |
probably damaging |
Het |
Asxl3 |
C |
G |
18: 22,658,356 (GRCm39) |
A2122G |
possibly damaging |
Het |
Bsn |
T |
A |
9: 107,989,152 (GRCm39) |
Y2200F |
probably damaging |
Het |
Btbd10 |
A |
T |
7: 112,925,043 (GRCm39) |
D268E |
probably damaging |
Het |
Cacna1h |
T |
C |
17: 25,616,782 (GRCm39) |
N113D |
probably damaging |
Het |
Cfap54 |
T |
C |
10: 92,902,628 (GRCm39) |
N175D |
probably benign |
Het |
Cfap61 |
A |
G |
2: 145,943,956 (GRCm39) |
D134G |
probably damaging |
Het |
Clybl |
A |
T |
14: 122,616,701 (GRCm39) |
I239L |
possibly damaging |
Het |
Defb11 |
A |
T |
8: 22,396,352 (GRCm39) |
F15Y |
probably damaging |
Het |
Dlc1 |
A |
G |
8: 37,051,647 (GRCm39) |
S695P |
probably benign |
Het |
Fbxl5 |
T |
C |
5: 43,916,114 (GRCm39) |
K432E |
probably benign |
Het |
Fryl |
T |
C |
5: 73,215,098 (GRCm39) |
E2226G |
probably benign |
Het |
Gm10337 |
T |
A |
15: 102,412,306 (GRCm39) |
|
probably null |
Het |
Gm5828 |
A |
G |
1: 16,839,516 (GRCm39) |
|
noncoding transcript |
Het |
Gm8674 |
A |
T |
13: 50,053,870 (GRCm39) |
|
noncoding transcript |
Het |
Ighv6-5 |
T |
C |
12: 114,380,191 (GRCm39) |
|
probably null |
Het |
Insyn2a |
A |
T |
7: 134,520,284 (GRCm39) |
V82E |
probably benign |
Het |
Ints14 |
C |
A |
9: 64,871,694 (GRCm39) |
L11M |
probably damaging |
Het |
Kcp |
G |
A |
6: 29,492,107 (GRCm39) |
P153L |
probably benign |
Het |
Lrrk2 |
A |
C |
15: 91,649,993 (GRCm39) |
N1710T |
probably benign |
Het |
Marchf10 |
T |
A |
11: 105,280,933 (GRCm39) |
T451S |
possibly damaging |
Het |
Mcf2l |
T |
G |
8: 12,965,959 (GRCm39) |
|
probably benign |
Het |
Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
Neurod2 |
T |
A |
11: 98,218,063 (GRCm39) |
H367L |
possibly damaging |
Het |
Nfatc4 |
A |
T |
14: 56,069,875 (GRCm39) |
Q681L |
probably damaging |
Het |
Nkx3-2 |
T |
C |
5: 41,919,220 (GRCm39) |
N256S |
probably damaging |
Het |
Ntng1 |
G |
A |
3: 110,042,661 (GRCm39) |
T55M |
possibly damaging |
Het |
Snd1 |
C |
A |
6: 28,888,239 (GRCm39) |
N891K |
probably damaging |
Het |
Syt7 |
T |
C |
19: 10,420,222 (GRCm39) |
V382A |
possibly damaging |
Het |
Trim72 |
T |
C |
7: 127,609,139 (GRCm39) |
S314P |
possibly damaging |
Het |
Ttc41 |
T |
C |
10: 86,580,408 (GRCm39) |
S785P |
probably damaging |
Het |
Ube2z |
C |
T |
11: 95,953,835 (GRCm39) |
V128I |
probably benign |
Het |
Vps26c |
T |
A |
16: 94,327,263 (GRCm39) |
|
probably benign |
Het |
Wdr43 |
T |
C |
17: 71,933,849 (GRCm39) |
Y149H |
probably benign |
Het |
Wnk4 |
T |
A |
11: 101,153,682 (GRCm39) |
V248E |
probably damaging |
Het |
Zcchc2 |
A |
T |
1: 105,958,694 (GRCm39) |
N1055I |
probably damaging |
Het |
Zdhhc23 |
T |
C |
16: 43,794,134 (GRCm39) |
Y180C |
probably benign |
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 |
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 |
R9413:Akr7a5
|
UTSW |
4 |
139,038,059 (GRCm39) |
unclassified |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGTCAGCTTCAGGATCCGAG -3'
(R):5'- TTCAGTTCACTAGTTCAGGACTC -3'
Sequencing Primer
(F):5'- TGAAGCTTCGAGTGCGCAG -3'
(R):5'- ACTAGTTCAGGACTCCAGTTGC -3'
|
Posted On |
2017-02-20 |