Incidental Mutation 'R6927:Cyp3a13'
ID |
541150 |
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 |
045044-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6927 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
137891194-137919881 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 137893546 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 439
(P439S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031741
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031741]
|
AlphaFold |
Q64464 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031741
AA Change: P439S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031741 Gene: ENSMUSG00000029727 AA Change: P439S
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.0%
- 20x: 96.1%
|
Validation Efficiency |
98% (57/58) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
A |
T |
17: 46,635,317 (GRCm39) |
W229R |
probably damaging |
Het |
Adck2 |
T |
C |
6: 39,560,998 (GRCm39) |
|
probably null |
Het |
Ahi1 |
A |
T |
10: 20,930,968 (GRCm39) |
N936I |
probably damaging |
Het |
Ass1 |
T |
C |
2: 31,404,813 (GRCm39) |
S365P |
probably damaging |
Het |
Atp9b |
T |
C |
18: 80,935,072 (GRCm39) |
K208E |
possibly damaging |
Het |
Bag6 |
G |
A |
17: 35,364,898 (GRCm39) |
|
probably null |
Het |
Bptf |
A |
T |
11: 106,945,421 (GRCm39) |
V2491E |
probably damaging |
Het |
Cd300ld2 |
T |
A |
11: 114,904,619 (GRCm39) |
R83W |
probably damaging |
Het |
Chrnd |
T |
C |
1: 87,126,434 (GRCm39) |
F396L |
probably damaging |
Het |
Dnhd1 |
C |
A |
7: 105,364,770 (GRCm39) |
H4279N |
probably damaging |
Het |
Fam118a |
T |
C |
15: 84,929,038 (GRCm39) |
|
probably null |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Fasn |
T |
A |
11: 120,699,115 (GRCm39) |
D2386V |
probably benign |
Het |
Fat1 |
G |
A |
8: 45,477,532 (GRCm39) |
V2170I |
probably benign |
Het |
Fdps |
T |
C |
3: 89,000,958 (GRCm39) |
R374G |
probably benign |
Het |
Fhl5 |
T |
C |
4: 25,213,681 (GRCm39) |
D85G |
probably benign |
Het |
Flvcr1 |
T |
C |
1: 190,757,861 (GRCm39) |
M144V |
possibly damaging |
Het |
Gask1b |
T |
C |
3: 79,848,769 (GRCm39) |
I505T |
probably damaging |
Het |
Gpr31b |
A |
G |
17: 13,270,765 (GRCm39) |
S135P |
probably damaging |
Het |
Hey2 |
A |
T |
10: 30,710,413 (GRCm39) |
D113E |
probably benign |
Het |
Hoxc5 |
T |
A |
15: 102,923,807 (GRCm39) |
I201N |
probably damaging |
Het |
Ighv1-50 |
A |
T |
12: 115,083,794 (GRCm39) |
W3R |
probably damaging |
Het |
Impa1 |
A |
G |
3: 10,380,348 (GRCm39) |
I208T |
probably benign |
Het |
Iqcj |
T |
C |
3: 67,954,624 (GRCm39) |
L43P |
possibly damaging |
Het |
Itga10 |
T |
C |
3: 96,564,030 (GRCm39) |
F895L |
probably damaging |
Het |
Kdm4b |
T |
C |
17: 56,706,435 (GRCm39) |
C850R |
probably damaging |
Het |
Krt25 |
A |
T |
11: 99,208,205 (GRCm39) |
I341N |
probably damaging |
Het |
L3mbtl3 |
T |
A |
10: 26,168,567 (GRCm39) |
R621* |
probably null |
Het |
Lipm |
T |
C |
19: 34,078,563 (GRCm39) |
|
probably benign |
Het |
Macrod2 |
A |
T |
2: 142,098,441 (GRCm39) |
D286V |
probably damaging |
Het |
Mad2l2 |
T |
A |
4: 148,225,411 (GRCm39) |
V27E |
possibly damaging |
Het |
Map4k4 |
T |
A |
1: 40,050,842 (GRCm39) |
H768Q |
probably benign |
Het |
Mgat4d |
A |
G |
8: 84,081,496 (GRCm39) |
N83S |
probably benign |
Het |
Nucb1 |
C |
T |
7: 45,148,282 (GRCm39) |
R141H |
possibly damaging |
Het |
Or2t46 |
A |
G |
11: 58,472,491 (GRCm39) |
K274E |
possibly damaging |
Het |
Pcdhga2 |
A |
C |
18: 37,803,719 (GRCm39) |
D521A |
probably damaging |
Het |
Pcnx1 |
T |
C |
12: 81,964,586 (GRCm39) |
V251A |
probably benign |
Het |
Pdf |
A |
T |
8: 107,774,833 (GRCm39) |
M133K |
probably damaging |
Het |
Piezo2 |
A |
G |
18: 63,166,057 (GRCm39) |
F2058S |
probably damaging |
Het |
Plekhb2 |
T |
A |
1: 34,915,982 (GRCm39) |
|
probably null |
Het |
Ppp2r3d |
G |
C |
9: 101,052,547 (GRCm39) |
H221D |
probably damaging |
Het |
Prl2c5 |
A |
T |
13: 13,357,503 (GRCm39) |
|
probably null |
Het |
Puf60 |
T |
A |
15: 75,947,663 (GRCm39) |
M49L |
probably benign |
Het |
Rdh16f1 |
T |
C |
10: 127,624,561 (GRCm39) |
V133A |
probably benign |
Het |
Robo2 |
T |
A |
16: 73,778,946 (GRCm39) |
D389V |
probably damaging |
Het |
Slc22a23 |
G |
T |
13: 34,528,362 (GRCm39) |
A140D |
probably benign |
Het |
Slc25a42 |
A |
G |
8: 70,641,573 (GRCm39) |
L136P |
probably damaging |
Het |
Slc36a3 |
T |
A |
11: 55,020,519 (GRCm39) |
M284L |
probably damaging |
Het |
Tas2r115 |
T |
A |
6: 132,714,895 (GRCm39) |
I19F |
probably damaging |
Het |
Tmc2 |
A |
G |
2: 130,103,300 (GRCm39) |
H812R |
probably benign |
Het |
Vmn2r26 |
A |
G |
6: 124,016,057 (GRCm39) |
S174G |
possibly damaging |
Het |
Vstm4 |
T |
A |
14: 32,585,959 (GRCm39) |
|
probably null |
Het |
Vwc2 |
C |
A |
11: 11,104,250 (GRCm39) |
P261T |
probably damaging |
Het |
Zfhx3 |
C |
G |
8: 109,683,453 (GRCm39) |
H3631D |
unknown |
Het |
Zfp335 |
A |
G |
2: 164,735,640 (GRCm39) |
C1105R |
probably damaging |
Het |
Zfp488 |
A |
G |
14: 33,692,755 (GRCm39) |
L136P |
probably benign |
Het |
Zzef1 |
G |
A |
11: 72,803,983 (GRCm39) |
R2575H |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTTTTCCTGCAAACCAATACC -3'
(R):5'- AATGGCTGAGCGACAAGTTG -3'
Sequencing Primer
(F):5'- TACCCCAGTTTAAAAAGCAAAACTC -3'
(R):5'- TTTCACAACCAGTCCAGGAGTAGTAG -3'
|
Posted On |
2018-11-28 |