Incidental Mutation 'R2398:Akr1c6'
| ID |
248613 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akr1c6
|
| Ensembl Gene |
ENSMUSG00000021210 |
| Gene Name |
aldo-keto reductase family 1, member C6 |
| Synonyms |
estradiol 17-beta-dehydrogenase (A-specific), Hsd17b5, 3alpha-HSD, Akr1c1 |
| MMRRC Submission |
040365-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R2398 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
4484354-4507529 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4499035 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 208
(S208P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021630
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021630]
[ENSMUST00000156277]
[ENSMUST00000220941]
[ENSMUST00000223118]
|
| AlphaFold |
P70694 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021630
AA Change: S208P
PolyPhen 2
Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000021630
Gene: ENSMUSG00000021210
AA Change: S208P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
18 |
301 |
2.2e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156277
AA Change: S155P
PolyPhen 2
Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000117624
Gene: ENSMUSG00000021210
AA Change: S155P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
1 |
173 |
3e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220941
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223118
AA Change: S30P
PolyPhen 2
Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
|
| Meta Mutation Damage Score |
0.2258 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.4%
|
| Validation Efficiency |
100% (39/39) |
| 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. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the bioreduction of chlordecone, a toxic organochlorine pesticide, to chlordecone alcohol in liver. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
All alleles(1) : Targeted, knock-out(1) |
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
T |
C |
2: 35,244,872 (GRCm39) |
D160G |
possibly damaging |
Het |
| Ap3b2 |
A |
G |
7: 81,126,943 (GRCm39) |
F269S |
probably damaging |
Het |
| Ap3d1 |
G |
A |
10: 80,555,006 (GRCm39) |
Q440* |
probably null |
Het |
| Cog2 |
T |
C |
8: 125,256,665 (GRCm39) |
I137T |
probably benign |
Het |
| Cse1l |
A |
G |
2: 166,770,917 (GRCm39) |
Y369C |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,806,029 (GRCm39) |
N3357D |
probably damaging |
Het |
| Fam83b |
T |
C |
9: 76,409,500 (GRCm39) |
T209A |
probably damaging |
Het |
| Gbp2 |
G |
A |
3: 142,339,123 (GRCm39) |
A392T |
probably benign |
Het |
| Grsf1 |
G |
A |
5: 88,821,695 (GRCm39) |
T123I |
probably damaging |
Het |
| Gzmc |
T |
A |
14: 56,470,228 (GRCm39) |
I90F |
possibly damaging |
Het |
| Hook2 |
T |
A |
8: 85,717,928 (GRCm39) |
N42K |
probably damaging |
Het |
| Hsp90aa1 |
T |
C |
12: 110,658,755 (GRCm39) |
M629V |
possibly damaging |
Het |
| Ifna14 |
T |
C |
4: 88,489,863 (GRCm39) |
D58G |
possibly damaging |
Het |
| Krtap4-8 |
T |
C |
11: 99,671,103 (GRCm39) |
|
probably benign |
Het |
| Mocs1 |
T |
C |
17: 49,759,862 (GRCm39) |
I381T |
probably damaging |
Het |
| Nbas |
A |
G |
12: 13,482,946 (GRCm39) |
T1408A |
probably damaging |
Het |
| Or6c219 |
A |
G |
10: 129,781,076 (GRCm39) |
F285S |
probably benign |
Het |
| Or8j3b |
T |
A |
2: 86,205,183 (GRCm39) |
D191V |
probably damaging |
Het |
| Orc1 |
C |
T |
4: 108,459,166 (GRCm39) |
T445I |
possibly damaging |
Het |
| Pdik1l |
T |
C |
4: 134,005,710 (GRCm39) |
K411E |
probably benign |
Het |
| Pias3 |
A |
G |
3: 96,611,129 (GRCm39) |
I443V |
probably benign |
Het |
| Psmd2 |
T |
C |
16: 20,478,222 (GRCm39) |
S536P |
possibly damaging |
Het |
| Rnf10 |
C |
T |
5: 115,385,332 (GRCm39) |
R554H |
probably benign |
Het |
| Smarcc2 |
C |
T |
10: 128,305,551 (GRCm39) |
T325I |
possibly damaging |
Het |
| Smchd1 |
C |
A |
17: 71,667,136 (GRCm39) |
C1752F |
probably damaging |
Het |
| Smchd1 |
G |
A |
17: 71,733,431 (GRCm39) |
|
probably benign |
Het |
| Svil |
A |
G |
18: 5,060,613 (GRCm39) |
|
probably null |
Het |
| Tex52 |
T |
C |
6: 128,356,540 (GRCm39) |
S78P |
probably damaging |
Het |
| Tmem63c |
T |
G |
12: 87,103,307 (GRCm39) |
V27G |
probably damaging |
Het |
| Ttc41 |
A |
G |
10: 86,549,250 (GRCm39) |
N148S |
possibly damaging |
Het |
| Vmn2r67 |
T |
C |
7: 84,785,921 (GRCm39) |
I695V |
probably damaging |
Het |
| Wipf2 |
T |
A |
11: 98,789,543 (GRCm39) |
|
probably null |
Het |
| Zc3h18 |
A |
G |
8: 123,140,605 (GRCm39) |
|
probably benign |
Het |
| Zfp804a |
T |
A |
2: 82,089,013 (GRCm39) |
N947K |
possibly damaging |
Het |
| Zfyve26 |
T |
C |
12: 79,329,573 (GRCm39) |
|
probably null |
Het |
| Zic2 |
G |
T |
14: 122,716,329 (GRCm39) |
E422* |
probably null |
Het |
| Zmym4 |
A |
T |
4: 126,816,929 (GRCm39) |
D4E |
probably damaging |
Het |
|
| Other mutations in Akr1c6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00163:Akr1c6
|
APN |
13 |
4,498,977 (GRCm39) |
splice site |
probably benign |
|
|
IGL01838:Akr1c6
|
APN |
13 |
4,499,035 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02318:Akr1c6
|
APN |
13 |
4,488,496 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02986:Akr1c6
|
APN |
13 |
4,486,414 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL03168:Akr1c6
|
APN |
13 |
4,486,280 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03190:Akr1c6
|
APN |
13 |
4,496,412 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL03258:Akr1c6
|
APN |
13 |
4,486,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0940:Akr1c6
|
UTSW |
13 |
4,486,372 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1442:Akr1c6
|
UTSW |
13 |
4,507,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1624:Akr1c6
|
UTSW |
13 |
4,496,363 (GRCm39) |
missense |
probably benign |
|
|
R1937:Akr1c6
|
UTSW |
13 |
4,496,383 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2392:Akr1c6
|
UTSW |
13 |
4,484,477 (GRCm39) |
splice site |
probably null |
|
|
R4655:Akr1c6
|
UTSW |
13 |
4,499,428 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4761:Akr1c6
|
UTSW |
13 |
4,497,010 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4913:Akr1c6
|
UTSW |
13 |
4,504,524 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4923:Akr1c6
|
UTSW |
13 |
4,504,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4953:Akr1c6
|
UTSW |
13 |
4,488,608 (GRCm39) |
splice site |
probably null |
|
|
R5255:Akr1c6
|
UTSW |
13 |
4,497,018 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5452:Akr1c6
|
UTSW |
13 |
4,504,544 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5660:Akr1c6
|
UTSW |
13 |
4,499,053 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6242:Akr1c6
|
UTSW |
13 |
4,486,361 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6323:Akr1c6
|
UTSW |
13 |
4,497,017 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6599:Akr1c6
|
UTSW |
13 |
4,499,318 (GRCm39) |
splice site |
probably null |
|
|
R6847:Akr1c6
|
UTSW |
13 |
4,488,497 (GRCm39) |
nonsense |
probably null |
|
|
R6989:Akr1c6
|
UTSW |
13 |
4,499,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7003:Akr1c6
|
UTSW |
13 |
4,504,514 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7251:Akr1c6
|
UTSW |
13 |
4,497,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7310:Akr1c6
|
UTSW |
13 |
4,486,354 (GRCm39) |
missense |
probably benign |
|
|
R8257:Akr1c6
|
UTSW |
13 |
4,488,525 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8539:Akr1c6
|
UTSW |
13 |
4,484,474 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8705:Akr1c6
|
UTSW |
13 |
4,484,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8791:Akr1c6
|
UTSW |
13 |
4,499,373 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8833:Akr1c6
|
UTSW |
13 |
4,496,377 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
X0062:Akr1c6
|
UTSW |
13 |
4,488,534 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCAGGCCTGAGAGTGATATAATC -3'
(R):5'- CGAGACTTCTAATGCATAGGAAGGTTG -3'
Sequencing Primer
(F):5'- GGCCTGAGAGTGATATAATCATTTC -3'
(R):5'- AAGGTTGATAAAGCCATTGTGG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation