Incidental Mutation 'IGL01886:Cyp3a13'
ID |
179148 |
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 # |
IGL01886
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
137891194-137919881 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 137897082 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 411
(P411S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031741
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031741]
|
AlphaFold |
Q64464 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031741
AA Change: P411S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031741 Gene: ENSMUSG00000029727 AA Change: P411S
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
24 |
N/A |
INTRINSIC |
Pfam:p450
|
38 |
493 |
1.3e-130 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000121449
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akt1 |
C |
T |
12: 112,625,592 (GRCm39) |
V136M |
probably benign |
Het |
Ankrd34c |
A |
T |
9: 89,612,318 (GRCm39) |
L8M |
possibly damaging |
Het |
Anks6 |
C |
A |
4: 47,044,850 (GRCm39) |
W352L |
probably damaging |
Het |
Arhgap12 |
A |
T |
18: 6,027,613 (GRCm39) |
N768K |
probably damaging |
Het |
Clec7a |
A |
T |
6: 129,440,140 (GRCm39) |
|
probably benign |
Het |
Elavl2 |
A |
G |
4: 91,152,330 (GRCm39) |
V129A |
probably damaging |
Het |
Ercc6 |
T |
A |
14: 32,291,537 (GRCm39) |
S994T |
possibly damaging |
Het |
Esco1 |
T |
A |
18: 10,595,262 (GRCm39) |
K8I |
probably damaging |
Het |
Esr1 |
T |
A |
10: 4,806,861 (GRCm39) |
I259K |
probably damaging |
Het |
Filip1l |
A |
G |
16: 57,391,613 (GRCm39) |
I734V |
possibly damaging |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
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 |
Grin3a |
T |
A |
4: 49,702,814 (GRCm39) |
I891F |
probably damaging |
Het |
Kat7 |
T |
C |
11: 95,196,959 (GRCm39) |
T27A |
probably benign |
Het |
Kdm1a |
A |
G |
4: 136,288,327 (GRCm39) |
|
probably null |
Het |
Kifc5b |
T |
C |
17: 27,151,091 (GRCm39) |
V663A |
probably damaging |
Het |
Lama1 |
T |
G |
17: 68,114,792 (GRCm39) |
S2314A |
probably benign |
Het |
Lrrc69 |
C |
T |
4: 14,703,984 (GRCm39) |
V279I |
probably benign |
Het |
Mast3 |
A |
T |
8: 71,234,783 (GRCm39) |
L774Q |
possibly damaging |
Het |
Med27 |
C |
A |
2: 29,303,494 (GRCm39) |
P9Q |
probably damaging |
Het |
Myo5a |
C |
A |
9: 75,076,372 (GRCm39) |
|
probably benign |
Het |
Myoz1 |
T |
C |
14: 20,705,377 (GRCm39) |
K14E |
probably damaging |
Het |
Neb |
T |
C |
2: 52,073,857 (GRCm39) |
|
probably benign |
Het |
Nlrp1a |
T |
C |
11: 71,014,327 (GRCm39) |
T308A |
probably benign |
Het |
Or1l4b |
A |
G |
2: 37,036,521 (GRCm39) |
Y99C |
probably damaging |
Het |
Or8d2b |
G |
T |
9: 38,788,844 (GRCm39) |
C124F |
probably damaging |
Het |
Orc1 |
T |
A |
4: 108,461,154 (GRCm39) |
|
probably null |
Het |
Pnkp |
G |
A |
7: 44,511,631 (GRCm39) |
A76T |
probably damaging |
Het |
Polr3h |
T |
C |
15: 81,801,591 (GRCm39) |
E95G |
probably damaging |
Het |
Prpf40b |
T |
A |
15: 99,202,328 (GRCm39) |
M62K |
unknown |
Het |
Prpf8 |
C |
A |
11: 75,386,570 (GRCm39) |
Q1075K |
probably benign |
Het |
Ptprg |
A |
G |
14: 12,179,280 (GRCm38) |
K766E |
probably benign |
Het |
Rabgap1l |
A |
T |
1: 160,169,612 (GRCm39) |
N778K |
probably damaging |
Het |
Riok3 |
T |
A |
18: 12,272,442 (GRCm39) |
N204K |
probably damaging |
Het |
Shank3 |
A |
G |
15: 89,415,866 (GRCm39) |
K650E |
probably damaging |
Het |
Sim1 |
T |
A |
10: 50,860,411 (GRCm39) |
S758T |
probably damaging |
Het |
Slu7 |
T |
G |
11: 43,330,087 (GRCm39) |
N171K |
probably damaging |
Het |
Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
Sult6b2 |
A |
G |
6: 142,735,852 (GRCm39) |
|
probably null |
Het |
Taf6l |
C |
T |
19: 8,755,450 (GRCm39) |
|
probably null |
Het |
Ubtfl1 |
G |
A |
9: 18,321,017 (GRCm39) |
V182M |
possibly damaging |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |