Incidental Mutation 'IGL03075:Akr1c12'
| ID |
417642 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Akr1c12
|
| Ensembl Gene |
ENSMUSG00000021211 |
| Gene Name |
aldo-keto reductase family 1, member C12 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03075
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
4318171-4329398 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 4322254 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 263
(R263C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021632
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021632]
|
| AlphaFold |
Q9JLI0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021632
AA Change: R263C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000021632
Gene: ENSMUSG00000021211
AA Change: R263C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
18 |
301 |
1.1e-63 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Axdnd1 |
A |
T |
1: 156,223,012 (GRCm39) |
S217T |
probably damaging |
Het |
| Crtc3 |
G |
A |
7: 80,254,151 (GRCm39) |
|
probably benign |
Het |
| Ctnna2 |
A |
T |
6: 76,931,713 (GRCm39) |
M642K |
probably benign |
Het |
| Ddx56 |
A |
T |
11: 6,211,632 (GRCm39) |
H491Q |
probably benign |
Het |
| Dvl1 |
A |
G |
4: 155,939,040 (GRCm39) |
E208G |
probably damaging |
Het |
| Fam135a |
A |
G |
1: 24,069,987 (GRCm39) |
|
probably benign |
Het |
| Gabpa |
T |
A |
16: 84,649,495 (GRCm39) |
V234D |
possibly damaging |
Het |
| Gjb4 |
A |
G |
4: 127,245,386 (GRCm39) |
V185A |
possibly damaging |
Het |
| Hlcs |
C |
T |
16: 93,939,706 (GRCm39) |
A149T |
probably damaging |
Het |
| Il1f10 |
T |
A |
2: 24,183,188 (GRCm39) |
I44N |
possibly damaging |
Het |
| Itih4 |
A |
G |
14: 30,614,240 (GRCm39) |
I397V |
probably benign |
Het |
| Kat6b |
C |
T |
14: 21,711,638 (GRCm39) |
R820* |
probably null |
Het |
| Mmp17 |
T |
C |
5: 129,672,138 (GRCm39) |
L137P |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,071,662 (GRCm39) |
N493S |
probably benign |
Het |
| Myo9b |
A |
T |
8: 71,807,171 (GRCm39) |
Q1589L |
probably damaging |
Het |
| Or1e29 |
A |
T |
11: 73,667,298 (GRCm39) |
L285Q |
probably damaging |
Het |
| Or5ac20 |
T |
A |
16: 59,104,291 (GRCm39) |
T190S |
possibly damaging |
Het |
| Osbpl8 |
A |
G |
10: 111,127,417 (GRCm39) |
I834V |
probably benign |
Het |
| P2ry12 |
A |
T |
3: 59,125,579 (GRCm39) |
V32D |
probably damaging |
Het |
| Polg |
A |
G |
7: 79,101,660 (GRCm39) |
V1052A |
probably damaging |
Het |
| Prss38 |
A |
C |
11: 59,263,881 (GRCm39) |
V277G |
probably damaging |
Het |
| Rell2 |
G |
T |
18: 38,090,734 (GRCm39) |
R137L |
probably damaging |
Het |
| Ro60 |
A |
C |
1: 143,646,509 (GRCm39) |
S79A |
probably benign |
Het |
| Scara3 |
C |
T |
14: 66,168,603 (GRCm39) |
R338H |
probably damaging |
Het |
| Skint4 |
T |
C |
4: 111,944,239 (GRCm39) |
L17P |
probably damaging |
Het |
| Slco1a6 |
C |
T |
6: 142,048,875 (GRCm39) |
|
probably benign |
Het |
| Smyd2 |
T |
A |
1: 189,621,029 (GRCm39) |
I230F |
probably damaging |
Het |
| Sv2b |
G |
T |
7: 74,786,068 (GRCm39) |
H451N |
probably benign |
Het |
| Tbpl2 |
A |
T |
2: 23,961,997 (GRCm39) |
|
probably benign |
Het |
| Tmprss9 |
A |
G |
10: 80,719,863 (GRCm39) |
D144G |
possibly damaging |
Het |
| Vwa8 |
T |
C |
14: 79,171,196 (GRCm39) |
Y247H |
probably damaging |
Het |
| Zc3h15 |
T |
C |
2: 83,492,535 (GRCm39) |
Y337H |
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 |
|
|
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 |
|
|
R8295:Akr1c12
|
UTSW |
13 |
4,322,355 (GRCm39) |
missense |
probably benign |
0.02 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation