Incidental Mutation 'R8295:Akr1c12'
| ID |
638897 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akr1c12
|
| Ensembl Gene |
ENSMUSG00000021211 |
| Gene Name |
aldo-keto reductase family 1, member C12 |
| Synonyms |
|
| MMRRC Submission |
067714-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8295 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
4318171-4329398 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 4322355 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 229
(D229A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021632
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021632]
|
| AlphaFold |
Q9JLI0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021632
AA Change: D229A
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000021632
Gene: ENSMUSG00000021211
AA Change: D229A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
18 |
301 |
1.1e-63 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
G |
7: 119,974,188 (GRCm39) |
I915S |
probably benign |
Het |
| Abcf2 |
CAT |
CATAAT |
5: 24,781,589 (GRCm39) |
|
probably benign |
Het |
| Ahdc1 |
T |
A |
4: 132,788,762 (GRCm39) |
M1K |
probably null |
Het |
| Ankfn1 |
C |
T |
11: 89,302,923 (GRCm39) |
V32M |
probably benign |
Het |
| C7 |
A |
T |
15: 5,018,327 (GRCm39) |
C839S |
probably damaging |
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Ccdc110 |
A |
G |
8: 46,396,416 (GRCm39) |
D769G |
probably damaging |
Het |
| Clk2 |
G |
T |
3: 89,080,766 (GRCm39) |
D251Y |
probably damaging |
Het |
| Dlx1 |
C |
A |
2: 71,362,726 (GRCm39) |
P211Q |
probably benign |
Het |
| Dock8 |
G |
A |
19: 25,100,600 (GRCm39) |
A703T |
probably benign |
Het |
| Eif2d |
T |
A |
1: 131,085,988 (GRCm39) |
L161Q |
probably benign |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Fndc3a |
T |
C |
14: 72,789,959 (GRCm39) |
I1079V |
probably benign |
Het |
| Gm21886 |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
18: 80,133,040 (GRCm39) |
|
probably benign |
Het |
| Gtf3c1 |
A |
G |
7: 125,262,234 (GRCm39) |
V1104A |
probably benign |
Het |
| H2-Ab1 |
A |
T |
17: 34,483,816 (GRCm39) |
Y59F |
probably damaging |
Het |
| Ints2 |
T |
C |
11: 86,115,914 (GRCm39) |
T772A |
probably damaging |
Het |
| Kcnh4 |
A |
G |
11: 100,640,523 (GRCm39) |
V501A |
probably benign |
Het |
| Ltbp1 |
A |
T |
17: 75,486,184 (GRCm39) |
T70S |
probably benign |
Het |
| Obox2 |
A |
G |
7: 15,131,247 (GRCm39) |
T118A |
probably benign |
Het |
| Or52ab4 |
C |
T |
7: 102,987,474 (GRCm39) |
T71I |
probably benign |
Het |
| Or8k17 |
T |
C |
2: 86,066,916 (GRCm39) |
M88V |
probably benign |
Het |
| Pih1d2 |
C |
T |
9: 50,532,379 (GRCm39) |
H146Y |
probably damaging |
Het |
| Pou2af1 |
C |
T |
9: 51,144,305 (GRCm39) |
S73F |
possibly damaging |
Het |
| Rnase2a |
T |
A |
14: 51,493,096 (GRCm39) |
I90L |
probably benign |
Het |
| S100a16 |
T |
A |
3: 90,449,336 (GRCm39) |
C4S |
probably benign |
Het |
| Sprr1a |
T |
C |
3: 92,391,849 (GRCm39) |
K51E |
possibly damaging |
Het |
| Tmem168 |
A |
T |
6: 13,602,850 (GRCm39) |
M172K |
probably damaging |
Het |
| Tnrc6b |
T |
C |
15: 80,797,565 (GRCm39) |
S1371P |
probably damaging |
Het |
| Trav21-dv12 |
T |
A |
14: 54,113,510 (GRCm39) |
L13* |
probably null |
Het |
| Vmn1r234 |
T |
A |
17: 21,449,101 (GRCm39) |
V5D |
probably benign |
Het |
| Vmn2r18 |
A |
G |
5: 151,508,621 (GRCm39) |
C168R |
probably damaging |
Het |
| Vmn2r90 |
C |
T |
17: 17,948,358 (GRCm39) |
P535S |
probably benign |
Het |
| Zfp595 |
A |
G |
13: 67,464,764 (GRCm39) |
C503R |
possibly damaging |
Het |
|
| Other mutations in Akr1c12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01479:Akr1c12
|
APN |
13 |
4,322,934 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01603:Akr1c12
|
APN |
13 |
4,322,926 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01935:Akr1c12
|
APN |
13 |
4,322,244 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02066:Akr1c12
|
APN |
13 |
4,326,236 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02224:Akr1c12
|
APN |
13 |
4,329,289 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02277:Akr1c12
|
APN |
13 |
4,322,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02425:Akr1c12
|
APN |
13 |
4,323,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02884:Akr1c12
|
APN |
13 |
4,322,211 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL02959:Akr1c12
|
APN |
13 |
4,329,331 (GRCm39) |
missense |
probably benign |
|
|
IGL03075:Akr1c12
|
APN |
13 |
4,322,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1216:Akr1c12
|
UTSW |
13 |
4,326,322 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1302:Akr1c12
|
UTSW |
13 |
4,322,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1520:Akr1c12
|
UTSW |
13 |
4,326,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2213:Akr1c12
|
UTSW |
13 |
4,326,247 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3944:Akr1c12
|
UTSW |
13 |
4,329,339 (GRCm39) |
missense |
probably benign |
|
|
R4671:Akr1c12
|
UTSW |
13 |
4,323,816 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6237:Akr1c12
|
UTSW |
13 |
4,325,767 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6266:Akr1c12
|
UTSW |
13 |
4,320,206 (GRCm39) |
missense |
probably benign |
|
|
R6467:Akr1c12
|
UTSW |
13 |
4,325,772 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6826:Akr1c12
|
UTSW |
13 |
4,325,733 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6865:Akr1c12
|
UTSW |
13 |
4,320,212 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6874:Akr1c12
|
UTSW |
13 |
4,322,959 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7574:Akr1c12
|
UTSW |
13 |
4,329,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8030:Akr1c12
|
UTSW |
13 |
4,322,244 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8242:Akr1c12
|
UTSW |
13 |
4,322,269 (GRCm39) |
nonsense |
probably null |
|
|
R8530:Akr1c12
|
UTSW |
13 |
4,320,160 (GRCm39) |
missense |
probably benign |
|
|
R8749:Akr1c12
|
UTSW |
13 |
4,320,155 (GRCm39) |
splice site |
probably benign |
|
|
R9420:Akr1c12
|
UTSW |
13 |
4,325,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Akr1c12
|
UTSW |
13 |
4,322,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGCTCATCACCTGCAAATTCTC -3'
(R):5'- CTTTAGAAGAACCTGGTGAAGCAG -3'
Sequencing Primer
(F):5'- ATCACCTGCAAATTCTCTCTCATC -3'
(R):5'- TCTTACACAGGGATCCTAGAGGCTC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation