Incidental Mutation 'R6978:Cyp3a13'
| ID |
542560 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp3a13
|
| Ensembl Gene |
ENSMUSG00000029727 |
| Gene Name |
cytochrome P450, family 3, subfamily a, polypeptide 13 |
| Synonyms |
steroid inducible, IIIAm2 |
| MMRRC Submission |
045086-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6978 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
137891194-137919881 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 137903801 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 286
(S286T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031741]
|
| AlphaFold |
Q64464 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031741
AA Change: S286T
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000031741
Gene: ENSMUSG00000029727
AA Change: S286T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
24 |
N/A |
INTRINSIC |
|
Pfam:p450
|
38 |
493 |
1.3e-130 |
PFAM |
|
| Meta Mutation Damage Score |
0.0833 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
| Validation Efficiency |
96% (51/53) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprh |
C |
T |
16: 38,266,171 (GRCm39) |
G324S |
probably damaging |
Het |
| Amfr |
T |
C |
8: 94,727,015 (GRCm39) |
E140G |
probably damaging |
Het |
| Anapc1 |
G |
T |
2: 128,511,820 (GRCm39) |
Q458K |
probably benign |
Het |
| Ap1g1 |
T |
C |
8: 110,554,968 (GRCm39) |
|
probably null |
Het |
| Arhgap45 |
G |
T |
10: 79,857,682 (GRCm39) |
V211F |
probably benign |
Het |
| Baz2b |
T |
C |
2: 59,738,059 (GRCm39) |
E1750G |
possibly damaging |
Het |
| Cmpk2 |
A |
T |
12: 26,527,018 (GRCm39) |
T336S |
probably damaging |
Het |
| Col6a3 |
C |
T |
1: 90,735,192 (GRCm39) |
|
probably null |
Het |
| Cyp2c29 |
T |
C |
19: 39,310,107 (GRCm39) |
L272P |
probably damaging |
Het |
| Cyp4f18 |
T |
G |
8: 72,756,340 (GRCm39) |
S79R |
probably benign |
Het |
| Dio1 |
T |
C |
4: 107,164,030 (GRCm39) |
T96A |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,701,526 (GRCm39) |
I210V |
probably null |
Het |
| Epha4 |
A |
G |
1: 77,354,220 (GRCm39) |
Y841H |
probably damaging |
Het |
| Gm12695 |
T |
C |
4: 96,657,959 (GRCm39) |
D70G |
possibly damaging |
Het |
| Gtf3c1 |
G |
T |
7: 125,244,706 (GRCm39) |
T1680K |
possibly damaging |
Het |
| Hnrnpul2 |
T |
C |
19: 8,801,640 (GRCm39) |
V314A |
probably damaging |
Het |
| Irx3 |
G |
T |
8: 92,527,356 (GRCm39) |
P116Q |
probably damaging |
Het |
| Lrp4 |
C |
T |
2: 91,322,343 (GRCm39) |
R1060C |
probably damaging |
Het |
| Mark3 |
G |
A |
12: 111,593,582 (GRCm39) |
V205I |
probably benign |
Het |
| Mchr1 |
T |
C |
15: 81,121,997 (GRCm39) |
L249P |
possibly damaging |
Het |
| Med26 |
T |
C |
8: 73,250,427 (GRCm39) |
N224S |
possibly damaging |
Het |
| Megf9 |
C |
T |
4: 70,351,766 (GRCm39) |
V452I |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,303,691 (GRCm39) |
R726G |
probably benign |
Het |
| Mst1r |
T |
A |
9: 107,789,793 (GRCm39) |
L583Q |
probably benign |
Het |
| Mybpc1 |
A |
G |
10: 88,358,886 (GRCm39) |
C1102R |
probably damaging |
Het |
| Nr6a1 |
T |
C |
2: 38,762,631 (GRCm39) |
T55A |
probably benign |
Het |
| Nup210l |
G |
A |
3: 90,061,873 (GRCm39) |
R684Q |
possibly damaging |
Het |
| Or13a24 |
A |
C |
7: 140,154,200 (GRCm39) |
I45L |
probably damaging |
Het |
| Or4f7 |
T |
A |
2: 111,644,155 (GRCm39) |
L305F |
probably benign |
Het |
| Or6x1 |
C |
T |
9: 40,099,085 (GRCm39) |
R225W |
probably damaging |
Het |
| Pgbd1 |
A |
G |
13: 21,607,432 (GRCm39) |
L254P |
probably damaging |
Het |
| Pou6f2 |
A |
G |
13: 18,347,063 (GRCm39) |
F10L |
probably damaging |
Het |
| Ppfia3 |
T |
A |
7: 44,996,272 (GRCm39) |
T726S |
probably benign |
Het |
| Rab21 |
T |
A |
10: 115,134,766 (GRCm39) |
M118L |
possibly damaging |
Het |
| Rbm6 |
T |
C |
9: 107,729,774 (GRCm39) |
|
probably null |
Het |
| Rmc1 |
T |
C |
18: 12,318,804 (GRCm39) |
Y430H |
probably benign |
Het |
| Rpp38 |
A |
G |
2: 3,330,758 (GRCm39) |
L48P |
probably damaging |
Het |
| Sart3 |
A |
T |
5: 113,883,807 (GRCm39) |
I735N |
probably damaging |
Het |
| Slc44a1 |
T |
A |
4: 53,544,671 (GRCm39) |
Y461N |
probably damaging |
Het |
| Smok2b |
A |
T |
17: 13,455,295 (GRCm39) |
*485L |
probably null |
Het |
| Speer4a2 |
C |
A |
5: 26,291,454 (GRCm39) |
E117D |
probably damaging |
Het |
| Spink8 |
T |
C |
9: 109,649,725 (GRCm39) |
V69A |
probably benign |
Het |
| Spred2 |
G |
A |
11: 19,948,254 (GRCm39) |
R83Q |
possibly damaging |
Het |
| Tmc1 |
T |
C |
19: 20,781,999 (GRCm39) |
N573S |
probably damaging |
Het |
| Tmem275 |
C |
T |
4: 115,755,560 (GRCm39) |
Q120* |
probably null |
Het |
| Tox4 |
G |
T |
14: 52,524,694 (GRCm39) |
|
probably null |
Het |
| Unc13c |
T |
C |
9: 73,839,259 (GRCm39) |
S531G |
probably benign |
Het |
| Vmn2r56 |
C |
T |
7: 12,449,333 (GRCm39) |
V302I |
probably benign |
Het |
| Ypel1 |
C |
T |
16: 16,902,438 (GRCm39) |
A110V |
probably benign |
Het |
| Zfp395 |
G |
A |
14: 65,623,882 (GRCm39) |
R117H |
probably benign |
Het |
| Zic5 |
T |
C |
14: 122,696,960 (GRCm39) |
T552A |
unknown |
Het |
| Zic5 |
CGACGAGTAG |
C |
14: 122,696,967 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAATGTTCTTCTGGCTGC -3'
(R):5'- GAAAGTGGTCTGTTCTCCAAGG -3'
Sequencing Primer
(F):5'- TGGCTGCTGTATATACTGTCTAC -3'
(R):5'- GGTCTGTTCTCCAAGGTGTATATATG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation