Incidental Mutation 'IGL02102:Cyp3a13'
| ID |
279776 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cyp3a13
|
| Ensembl Gene |
ENSMUSG00000029727 |
| Gene Name |
cytochrome P450, family 3, subfamily a, polypeptide 13 |
| Synonyms |
steroid inducible, IIIAm2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02102
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
137891194-137919881 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 137909865 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 153
(T153P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031741]
|
| AlphaFold |
Q64464 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031741
AA Change: T153P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000031741
Gene: ENSMUSG00000029727
AA Change: T153P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
24 |
N/A |
INTRINSIC |
|
Pfam:p450
|
38 |
493 |
1.3e-130 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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 cytochrome P450 superfamily of enzymes, which participate in drug metabolism and the synthesis of cholesterol, steroids and other lipids. This enzyme hydroxylates testosterone and dehydroepiandrosterone 3-sulphate, which is involved in the formation of estriol during pregnancy. This gene is part of a cluster of related genes on chromosome 7q21.1. Naturally-occurring readthrough transcription occurs between this gene and the downstream CYP3A51P pseudogene and is represented by GeneID:100861540. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for a knock-out allele show no apparent alterations in hematology, plasma clinical chemistry or pathology. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(6) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(3) |
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
T |
C |
6: 92,754,420 (GRCm39) |
T1338A |
probably benign |
Het |
| Adcy3 |
G |
A |
12: 4,184,699 (GRCm39) |
C125Y |
probably damaging |
Het |
| Aoc1 |
A |
T |
6: 48,882,896 (GRCm39) |
K257N |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,039,407 (GRCm39) |
V497A |
possibly damaging |
Het |
| Atp8b5 |
T |
A |
4: 43,364,167 (GRCm39) |
V684D |
probably benign |
Het |
| AW551984 |
A |
G |
9: 39,500,987 (GRCm39) |
W763R |
probably damaging |
Het |
| Blm |
G |
A |
7: 80,119,504 (GRCm39) |
T1026M |
probably damaging |
Het |
| Cd160 |
A |
G |
3: 96,712,886 (GRCm39) |
I126T |
possibly damaging |
Het |
| Cdk14 |
T |
C |
5: 5,430,083 (GRCm39) |
K15E |
probably benign |
Het |
| Cnot6l |
T |
C |
5: 96,239,518 (GRCm39) |
K261R |
probably damaging |
Het |
| Ddx24 |
A |
G |
12: 103,374,743 (GRCm39) |
|
probably benign |
Het |
| Dido1 |
G |
A |
2: 180,304,040 (GRCm39) |
T1288I |
possibly damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,106,208 (GRCm39) |
V322A |
possibly damaging |
Het |
| Dnajc25 |
T |
A |
4: 59,017,693 (GRCm39) |
Y117* |
probably null |
Het |
| Dsg1a |
A |
G |
18: 20,465,089 (GRCm39) |
N427D |
probably benign |
Het |
| Gabrq |
T |
G |
X: 71,871,151 (GRCm39) |
|
probably null |
Het |
| Glce |
A |
G |
9: 61,977,883 (GRCm39) |
|
probably benign |
Het |
| Gm10477 |
T |
C |
X: 55,570,761 (GRCm39) |
L45P |
probably damaging |
Het |
| Htt |
T |
A |
5: 35,048,825 (GRCm39) |
|
probably benign |
Het |
| Ift140 |
A |
G |
17: 25,252,104 (GRCm39) |
E317G |
probably benign |
Het |
| Jak1 |
A |
G |
4: 101,016,283 (GRCm39) |
M827T |
probably benign |
Het |
| Kalrn |
A |
G |
16: 34,040,592 (GRCm39) |
V932A |
probably damaging |
Het |
| Mdm2 |
A |
C |
10: 117,528,622 (GRCm39) |
S227R |
possibly damaging |
Het |
| Or14a259 |
T |
C |
7: 86,013,074 (GRCm39) |
Y157C |
probably benign |
Het |
| Or4c111 |
A |
G |
2: 88,843,470 (GRCm39) |
|
probably benign |
Het |
| Or5ak25 |
A |
G |
2: 85,268,611 (GRCm39) |
V297A |
probably damaging |
Het |
| Or5g27 |
G |
A |
2: 85,410,017 (GRCm39) |
V145I |
probably damaging |
Het |
| Or5w22 |
T |
C |
2: 87,362,805 (GRCm39) |
F143L |
probably benign |
Het |
| Pdilt |
T |
G |
7: 119,086,173 (GRCm39) |
E514A |
probably benign |
Het |
| Pepd |
A |
G |
7: 34,645,028 (GRCm39) |
D153G |
probably damaging |
Het |
| Ptgis |
A |
T |
2: 167,067,367 (GRCm39) |
V70E |
probably damaging |
Het |
| Rnf112 |
T |
C |
11: 61,342,841 (GRCm39) |
K262E |
probably benign |
Het |
| Setd5 |
G |
T |
6: 113,127,946 (GRCm39) |
G1300* |
probably null |
Het |
| Snx15 |
A |
G |
19: 6,172,104 (GRCm39) |
L113P |
possibly damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,087,427 (GRCm39) |
D1004G |
probably damaging |
Het |
| Ston2 |
A |
C |
12: 91,606,498 (GRCm39) |
*896G |
probably null |
Het |
| Suco |
A |
G |
1: 161,655,274 (GRCm39) |
S1073P |
probably damaging |
Het |
| Susd1 |
A |
C |
4: 59,369,636 (GRCm39) |
D344E |
possibly damaging |
Het |
| Trnt1 |
G |
T |
6: 106,755,073 (GRCm39) |
|
probably null |
Het |
| Ttll12 |
A |
G |
15: 83,466,264 (GRCm39) |
F399S |
probably damaging |
Het |
| Vmn1r124 |
C |
T |
7: 20,994,467 (GRCm39) |
V26I |
probably benign |
Het |
| Vmn1r52 |
T |
A |
6: 90,156,189 (GRCm39) |
N164K |
possibly damaging |
Het |
| Vmn1r56 |
A |
T |
7: 5,199,335 (GRCm39) |
M94K |
possibly damaging |
Het |
| Vmn1r80 |
T |
C |
7: 11,927,618 (GRCm39) |
F243L |
probably damaging |
Het |
| Zdhhc8 |
G |
A |
16: 18,043,063 (GRCm39) |
S379F |
possibly damaging |
Het |
|
| Other mutations in Cyp3a13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00501:Cyp3a13
|
APN |
5 |
137,910,195 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01879:Cyp3a13
|
APN |
5 |
137,917,265 (GRCm39) |
missense |
probably benign |
|
|
IGL01886:Cyp3a13
|
APN |
5 |
137,897,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02048:Cyp3a13
|
APN |
5 |
137,917,257 (GRCm39) |
splice site |
probably benign |
|
|
IGL02285:Cyp3a13
|
APN |
5 |
137,908,229 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL03213:Cyp3a13
|
APN |
5 |
137,892,529 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL03238:Cyp3a13
|
APN |
5 |
137,897,151 (GRCm39) |
missense |
probably damaging |
0.99 |
|
G4846:Cyp3a13
|
UTSW |
5 |
137,897,085 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL02988:Cyp3a13
|
UTSW |
5 |
137,897,272 (GRCm39) |
nonsense |
probably null |
|
|
PIT4486001:Cyp3a13
|
UTSW |
5 |
137,908,228 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0319:Cyp3a13
|
UTSW |
5 |
137,897,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1024:Cyp3a13
|
UTSW |
5 |
137,892,626 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1189:Cyp3a13
|
UTSW |
5 |
137,909,892 (GRCm39) |
splice site |
probably null |
|
|
R1464:Cyp3a13
|
UTSW |
5 |
137,903,827 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1464:Cyp3a13
|
UTSW |
5 |
137,903,827 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1501:Cyp3a13
|
UTSW |
5 |
137,909,892 (GRCm39) |
splice site |
probably null |
|
|
R1838:Cyp3a13
|
UTSW |
5 |
137,909,894 (GRCm39) |
splice site |
probably null |
|
|
R1956:Cyp3a13
|
UTSW |
5 |
137,908,204 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1981:Cyp3a13
|
UTSW |
5 |
137,910,118 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2048:Cyp3a13
|
UTSW |
5 |
137,908,237 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2140:Cyp3a13
|
UTSW |
5 |
137,919,716 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4844:Cyp3a13
|
UTSW |
5 |
137,915,813 (GRCm39) |
missense |
probably benign |
|
|
R5001:Cyp3a13
|
UTSW |
5 |
137,897,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5062:Cyp3a13
|
UTSW |
5 |
137,897,161 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5420:Cyp3a13
|
UTSW |
5 |
137,897,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5855:Cyp3a13
|
UTSW |
5 |
137,917,318 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6089:Cyp3a13
|
UTSW |
5 |
137,908,215 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6927:Cyp3a13
|
UTSW |
5 |
137,893,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6978:Cyp3a13
|
UTSW |
5 |
137,903,801 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7283:Cyp3a13
|
UTSW |
5 |
137,903,818 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7571:Cyp3a13
|
UTSW |
5 |
137,897,125 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7781:Cyp3a13
|
UTSW |
5 |
137,897,136 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8281:Cyp3a13
|
UTSW |
5 |
137,892,559 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8987:Cyp3a13
|
UTSW |
5 |
137,909,849 (GRCm39) |
missense |
probably benign |
|
|
R9154:Cyp3a13
|
UTSW |
5 |
137,919,758 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9765:Cyp3a13
|
UTSW |
5 |
137,909,883 (GRCm39) |
missense |
probably damaging |
0.98 |
|
RF007:Cyp3a13
|
UTSW |
5 |
137,892,525 (GRCm39) |
makesense |
probably null |
|
|
RF020:Cyp3a13
|
UTSW |
5 |
137,892,525 (GRCm39) |
makesense |
probably null |
|
|
X0024:Cyp3a13
|
UTSW |
5 |
137,898,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation