Incidental Mutation 'R2392:Akr1c6'
| ID |
247827 |
| 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 |
040360-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R2392 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
4484354-4507529 bp(+) (GRCm39) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 4484477 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021630
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021630]
[ENSMUST00000021630]
[ENSMUST00000021630]
[ENSMUST00000021630]
[ENSMUST00000156277]
[ENSMUST00000220941]
|
| AlphaFold |
P70694 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021630
|
| SMART Domains |
Protein: ENSMUSP00000021630
Gene: ENSMUSG00000021210
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
18 |
301 |
2.2e-58 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000021630
|
| SMART Domains |
Protein: ENSMUSP00000021630
Gene: ENSMUSG00000021210
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
18 |
301 |
2.2e-58 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000021630
|
| SMART Domains |
Protein: ENSMUSP00000021630
Gene: ENSMUSG00000021210
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
18 |
301 |
2.2e-58 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000021630
|
| SMART Domains |
Protein: ENSMUSP00000021630
Gene: ENSMUSG00000021210
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
18 |
301 |
2.2e-58 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128695
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156277
|
| SMART Domains |
Protein: ENSMUSP00000117624
Gene: ENSMUSG00000021210
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
1 |
173 |
3e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220941
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
96% (53/55) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,297,264 (GRCm39) |
S2409T |
probably damaging |
Het |
| Acap2 |
A |
G |
16: 30,958,458 (GRCm39) |
F120S |
probably damaging |
Het |
| Bptf |
C |
A |
11: 106,963,573 (GRCm39) |
A1874S |
probably damaging |
Het |
| Ccnl1 |
A |
G |
3: 65,856,173 (GRCm39) |
V244A |
probably damaging |
Het |
| Cenpe |
T |
G |
3: 134,953,874 (GRCm39) |
L1628R |
probably damaging |
Het |
| Cfap54 |
A |
G |
10: 92,860,873 (GRCm39) |
|
probably null |
Het |
| Chchd7 |
T |
A |
4: 3,943,381 (GRCm39) |
|
probably null |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| Crybg2 |
G |
T |
4: 133,799,925 (GRCm39) |
V362L |
probably benign |
Het |
| Ddx11 |
T |
A |
17: 66,456,968 (GRCm39) |
V791E |
probably damaging |
Het |
| Disp1 |
G |
A |
1: 182,868,731 (GRCm39) |
P1230S |
probably benign |
Het |
| Elp5 |
T |
C |
11: 69,865,928 (GRCm39) |
H116R |
probably benign |
Het |
| Epb42 |
T |
C |
2: 120,860,468 (GRCm39) |
E177G |
possibly damaging |
Het |
| F13a1 |
T |
A |
13: 37,127,971 (GRCm39) |
I336F |
possibly damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fcsk |
A |
G |
8: 111,616,356 (GRCm39) |
M453T |
probably benign |
Het |
| Hacd2 |
A |
T |
16: 34,926,748 (GRCm39) |
E249V |
probably benign |
Het |
| Hnrnpf |
C |
A |
6: 117,901,829 (GRCm39) |
A371D |
possibly damaging |
Het |
| Jmjd1c |
A |
G |
10: 67,065,683 (GRCm39) |
T1703A |
probably damaging |
Het |
| Kcnj13 |
G |
A |
1: 87,314,622 (GRCm39) |
T200I |
possibly damaging |
Het |
| Kif1b |
G |
A |
4: 149,305,077 (GRCm39) |
T949M |
possibly damaging |
Het |
| Klhl35 |
G |
A |
7: 99,123,031 (GRCm39) |
A552T |
possibly damaging |
Het |
| Krt74 |
A |
G |
15: 101,665,236 (GRCm39) |
|
noncoding transcript |
Het |
| Krtap14 |
T |
A |
16: 88,622,597 (GRCm39) |
|
probably null |
Het |
| Lrrc45 |
A |
G |
11: 120,610,365 (GRCm39) |
N492S |
probably benign |
Het |
| Lrrcc1 |
T |
A |
3: 14,601,580 (GRCm39) |
N114K |
probably damaging |
Het |
| Mfsd2b |
T |
C |
12: 4,915,164 (GRCm39) |
D375G |
possibly damaging |
Het |
| Mgat4a |
A |
G |
1: 37,537,785 (GRCm39) |
L44P |
probably damaging |
Het |
| Mttp |
A |
C |
3: 137,800,782 (GRCm39) |
D774E |
probably damaging |
Het |
| Myo5a |
T |
C |
9: 75,116,521 (GRCm39) |
V1554A |
probably benign |
Het |
| Nes |
C |
T |
3: 87,883,250 (GRCm39) |
A503V |
probably benign |
Het |
| Nme8 |
A |
G |
13: 19,873,113 (GRCm39) |
|
probably null |
Het |
| Nr4a1 |
A |
G |
15: 101,172,075 (GRCm39) |
D583G |
possibly damaging |
Het |
| Or12d17 |
A |
G |
17: 37,777,310 (GRCm39) |
Y71C |
probably damaging |
Het |
| Or5k14 |
A |
G |
16: 58,692,797 (GRCm39) |
S239P |
probably damaging |
Het |
| Pnpla8 |
T |
A |
12: 44,358,287 (GRCm39) |
L746I |
probably damaging |
Het |
| Ppp1r7 |
A |
T |
1: 93,282,063 (GRCm39) |
I205F |
probably benign |
Het |
| Psd4 |
C |
A |
2: 24,284,679 (GRCm39) |
P181Q |
probably damaging |
Het |
| Ripor2 |
G |
A |
13: 24,890,206 (GRCm39) |
V694I |
probably benign |
Het |
| Scn10a |
A |
G |
9: 119,456,268 (GRCm39) |
S1185P |
possibly damaging |
Het |
| Sec23b |
T |
A |
2: 144,427,507 (GRCm39) |
|
probably null |
Het |
| Slfn2 |
A |
G |
11: 82,956,154 (GRCm39) |
N12S |
possibly damaging |
Het |
| Slfn4 |
A |
G |
11: 83,076,248 (GRCm39) |
K38R |
possibly damaging |
Het |
| Smarca2 |
G |
T |
19: 26,618,050 (GRCm39) |
|
probably null |
Het |
| Taar4 |
A |
G |
10: 23,837,172 (GRCm39) |
T261A |
possibly damaging |
Het |
| Tbl2 |
A |
G |
5: 135,185,368 (GRCm39) |
D159G |
probably benign |
Het |
| Tmem120a |
T |
C |
5: 135,770,892 (GRCm39) |
E55G |
probably damaging |
Het |
| Ttc21b |
A |
G |
2: 66,037,794 (GRCm39) |
|
probably null |
Het |
| Vill |
A |
T |
9: 118,896,628 (GRCm39) |
|
probably benign |
Het |
| Vmn2r28 |
A |
T |
7: 5,487,130 (GRCm39) |
M511K |
probably damaging |
Het |
| Vmn2r81 |
A |
T |
10: 79,110,516 (GRCm39) |
D543V |
probably damaging |
Het |
| Wdr95 |
A |
G |
5: 149,504,135 (GRCm39) |
T314A |
probably benign |
Het |
| Zbtb8b |
A |
G |
4: 129,326,982 (GRCm39) |
I61T |
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 |
|
R2398:Akr1c6
|
UTSW |
13 |
4,499,035 (GRCm39) |
missense |
probably benign |
0.44 |
|
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'- CTGCATTGGTTACTCATTACAAGGAC -3'
(R):5'- AATCTGGAACTAGGCTCTTGG -3'
Sequencing Primer
(F):5'- GGTTACTCATTACAAGGACATCTAGG -3'
(R):5'- GAACTAGGCTCTTGGATAAGTCCC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation