Incidental Mutation 'IGL01879:Cyp3a13'
| ID |
178993 |
| 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 # |
IGL01879
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
137891194-137919881 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 137917265 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 54
(Q54R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031741]
|
| AlphaFold |
Q64464 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031741
AA Change: Q54R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000031741
Gene: ENSMUSG00000029727
AA Change: Q54R
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cgn |
G |
A |
3: 94,681,674 (GRCm39) |
R474* |
probably null |
Het |
| Chmp4b |
T |
C |
2: 154,534,601 (GRCm39) |
|
probably benign |
Het |
| Chst15 |
A |
G |
7: 131,871,994 (GRCm39) |
Y96H |
possibly damaging |
Het |
| Clstn3 |
A |
G |
6: 124,415,769 (GRCm39) |
S638P |
probably damaging |
Het |
| Colq |
C |
T |
14: 31,265,952 (GRCm39) |
G187E |
probably damaging |
Het |
| Cyp2b23 |
A |
G |
7: 26,372,279 (GRCm39) |
Y389H |
probably benign |
Het |
| Dscc1 |
T |
C |
15: 54,950,212 (GRCm39) |
I178V |
probably benign |
Het |
| Fbxo4 |
G |
A |
15: 4,005,436 (GRCm39) |
T148M |
probably damaging |
Het |
| Gm10717 |
A |
T |
9: 3,026,287 (GRCm39) |
Y195F |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gpr162 |
A |
G |
6: 124,838,204 (GRCm39) |
S149P |
probably damaging |
Het |
| Grid1 |
T |
A |
14: 35,172,327 (GRCm39) |
I611N |
possibly damaging |
Het |
| Mgat5 |
T |
C |
1: 127,325,287 (GRCm39) |
F385L |
probably damaging |
Het |
| Npepps |
T |
C |
11: 97,149,166 (GRCm39) |
T17A |
possibly damaging |
Het |
| Or4c125 |
T |
C |
2: 89,170,366 (GRCm39) |
I93M |
probably benign |
Het |
| Or4n4b |
A |
G |
14: 50,535,969 (GRCm39) |
S266P |
probably benign |
Het |
| Or5p60 |
A |
T |
7: 107,724,371 (GRCm39) |
I33N |
possibly damaging |
Het |
| Or7g29 |
A |
T |
9: 19,286,703 (GRCm39) |
L158* |
probably null |
Het |
| Parg |
T |
C |
14: 31,993,579 (GRCm39) |
|
probably benign |
Het |
| Rad51ap2 |
A |
G |
12: 11,508,139 (GRCm39) |
D687G |
probably benign |
Het |
| Sh3bp1 |
T |
G |
15: 78,792,192 (GRCm39) |
S450A |
probably damaging |
Het |
| Skap2 |
T |
C |
6: 51,973,014 (GRCm39) |
D90G |
possibly damaging |
Het |
| Smc5 |
C |
T |
19: 23,205,548 (GRCm39) |
R796H |
probably damaging |
Het |
| Tdrd12 |
A |
C |
7: 35,221,348 (GRCm39) |
I146S |
probably damaging |
Het |
| Tinf2 |
T |
C |
14: 55,918,363 (GRCm39) |
|
probably benign |
Het |
| Trio |
G |
A |
15: 27,741,119 (GRCm39) |
T2702I |
probably benign |
Het |
| Vmn1r88 |
T |
A |
7: 12,912,229 (GRCm39) |
M195K |
probably benign |
Het |
| Vmn2r110 |
T |
C |
17: 20,794,122 (GRCm39) |
H849R |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r4 |
C |
T |
3: 64,298,431 (GRCm39) |
G566R |
probably damaging |
Het |
| Wdpcp |
A |
G |
11: 21,661,630 (GRCm39) |
T301A |
probably 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 |
|
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 |
|
|
IGL02102:Cyp3a13
|
APN |
5 |
137,909,865 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2014-05-07 |
Incidental Mutation