Incidental Mutation 'R6495:Cyp39a1'
| ID |
520481 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp39a1
|
| Ensembl Gene |
ENSMUSG00000023963 |
| Gene Name |
cytochrome P450, family 39, subfamily a, polypeptide 1 |
| Synonyms |
oxysterol 7-alpha-hydroxylase |
| MMRRC Submission |
044627-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R6495 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
43978316-44062322 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44002585 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 267
(Y267H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130073
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170988]
|
| AlphaFold |
Q9JKJ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170988
AA Change: Y267H
PolyPhen 2
Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000130073
Gene: ENSMUSG00000023963
AA Change: Y267H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
32 |
464 |
1.9e-52 |
PFAM |
|
| Meta Mutation Damage Score |
0.2689 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
100% (50/50) |
| 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. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein is involved in the conversion of cholesterol to bile acids. Its substrates include the oxysterols 25-hydroxycholesterol, 27-hydroxycholesterol and 24-hydroxycholesterol. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak2 |
T |
A |
12: 112,740,148 (GRCm39) |
E502V |
probably damaging |
Het |
| Apbb1ip |
T |
A |
2: 22,743,132 (GRCm39) |
Y321* |
probably null |
Het |
| Apob |
A |
G |
12: 8,040,394 (GRCm39) |
K577R |
probably null |
Het |
| Arfgef3 |
A |
G |
10: 18,486,950 (GRCm39) |
|
probably null |
Het |
| Asap3 |
T |
A |
4: 135,955,790 (GRCm39) |
|
probably null |
Het |
| Atp13a5 |
C |
T |
16: 29,140,440 (GRCm39) |
|
probably null |
Het |
| Bcan |
C |
A |
3: 87,903,904 (GRCm39) |
A194S |
possibly damaging |
Het |
| Cacybp |
T |
C |
1: 160,036,093 (GRCm39) |
T32A |
probably benign |
Het |
| Cd82 |
A |
G |
2: 93,260,357 (GRCm39) |
V90A |
probably benign |
Het |
| Chd5 |
C |
T |
4: 152,451,829 (GRCm39) |
R714C |
probably damaging |
Het |
| Cpb2 |
T |
C |
14: 75,512,519 (GRCm39) |
Y311H |
probably damaging |
Het |
| Dnajc6 |
C |
T |
4: 101,492,262 (GRCm39) |
Q766* |
probably null |
Het |
| Dusp3 |
T |
C |
11: 101,872,653 (GRCm39) |
I48V |
probably benign |
Het |
| Eif3c |
A |
T |
7: 126,146,672 (GRCm39) |
F809I |
probably damaging |
Het |
| Exosc10 |
C |
T |
4: 148,647,329 (GRCm39) |
P213S |
probably benign |
Het |
| Galns |
C |
T |
8: 123,327,349 (GRCm39) |
G141D |
probably damaging |
Het |
| Gm3233 |
A |
T |
10: 77,594,886 (GRCm39) |
|
probably benign |
Het |
| Hadha |
A |
T |
5: 30,325,048 (GRCm39) |
L714H |
probably benign |
Het |
| Map3k20 |
T |
C |
2: 72,198,763 (GRCm39) |
M123T |
probably damaging |
Het |
| Nt5dc1 |
A |
G |
10: 34,200,365 (GRCm39) |
L217P |
probably damaging |
Het |
| Nubp2 |
A |
T |
17: 25,104,577 (GRCm39) |
D54E |
probably damaging |
Het |
| Onecut1 |
C |
T |
9: 74,770,497 (GRCm39) |
R307C |
probably damaging |
Het |
| Or5b116 |
T |
A |
19: 13,422,989 (GRCm39) |
D204E |
probably benign |
Het |
| Pcdhb17 |
A |
G |
18: 37,618,720 (GRCm39) |
Y170C |
probably damaging |
Het |
| Pkd2 |
T |
A |
5: 104,637,159 (GRCm39) |
C591S |
probably damaging |
Het |
| Pramel15 |
T |
C |
4: 144,103,409 (GRCm39) |
N239S |
probably benign |
Het |
| Pwp2 |
A |
T |
10: 78,012,961 (GRCm39) |
V549E |
probably damaging |
Het |
| Rapsn |
A |
T |
2: 90,866,973 (GRCm39) |
S92C |
probably damaging |
Het |
| Rbm19 |
A |
G |
5: 120,257,745 (GRCm39) |
S90G |
probably damaging |
Het |
| Rfc1 |
G |
A |
5: 65,431,158 (GRCm39) |
|
probably null |
Het |
| Rims2 |
T |
A |
15: 39,381,208 (GRCm39) |
F1046L |
probably benign |
Het |
| S100a16 |
C |
T |
3: 90,449,735 (GRCm39) |
R73C |
probably benign |
Het |
| Shroom3 |
T |
C |
5: 93,089,928 (GRCm39) |
Y893H |
possibly damaging |
Het |
| Stt3b |
T |
A |
9: 115,096,388 (GRCm39) |
Y253F |
possibly damaging |
Het |
| Taar8b |
A |
G |
10: 23,967,160 (GRCm39) |
*345Q |
probably null |
Het |
| Tas2r119 |
G |
A |
15: 32,177,676 (GRCm39) |
V81I |
probably benign |
Het |
| Tas2r129 |
A |
G |
6: 132,928,128 (GRCm39) |
I22V |
probably benign |
Het |
| Tbc1d19 |
T |
G |
5: 54,046,555 (GRCm39) |
|
probably null |
Het |
| Tnip3 |
A |
T |
6: 65,582,846 (GRCm39) |
I218F |
probably benign |
Het |
| Tnks |
A |
T |
8: 35,307,120 (GRCm39) |
|
probably null |
Het |
| Ttc29 |
T |
C |
8: 79,008,963 (GRCm39) |
Y278H |
possibly damaging |
Het |
| Tut7 |
T |
C |
13: 59,947,753 (GRCm39) |
E454G |
possibly damaging |
Het |
| Uba7 |
T |
A |
9: 107,854,213 (GRCm39) |
C214* |
probably null |
Het |
| Vmn2r115 |
A |
T |
17: 23,578,572 (GRCm39) |
I682F |
probably benign |
Het |
| Vmn2r75 |
A |
T |
7: 85,813,287 (GRCm39) |
M505K |
probably benign |
Het |
| Wdr19 |
A |
T |
5: 65,415,466 (GRCm39) |
T1313S |
probably benign |
Het |
| Zbtb22 |
A |
G |
17: 34,136,224 (GRCm39) |
D123G |
probably damaging |
Het |
| Zdhhc7 |
A |
G |
8: 120,813,395 (GRCm39) |
I138T |
probably benign |
Het |
| Zfp706 |
T |
C |
15: 37,004,045 (GRCm39) |
K7R |
unknown |
Het |
| Zkscan3 |
G |
A |
13: 21,572,075 (GRCm39) |
P519L |
probably damaging |
Het |
|
| Other mutations in Cyp39a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00972:Cyp39a1
|
APN |
17 |
44,012,434 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01070:Cyp39a1
|
APN |
17 |
43,993,913 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01606:Cyp39a1
|
APN |
17 |
44,057,509 (GRCm39) |
splice site |
probably benign |
|
|
IGL01769:Cyp39a1
|
APN |
17 |
44,060,806 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL01916:Cyp39a1
|
APN |
17 |
44,041,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02374:Cyp39a1
|
APN |
17 |
44,060,872 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02402:Cyp39a1
|
APN |
17 |
44,002,613 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03097:Cyp39a1
|
UTSW |
17 |
43,993,941 (GRCm39) |
nonsense |
probably null |
|
|
R0230:Cyp39a1
|
UTSW |
17 |
44,042,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1244:Cyp39a1
|
UTSW |
17 |
44,060,836 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1572:Cyp39a1
|
UTSW |
17 |
43,991,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1656:Cyp39a1
|
UTSW |
17 |
43,978,510 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4036:Cyp39a1
|
UTSW |
17 |
43,987,831 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4308:Cyp39a1
|
UTSW |
17 |
44,041,855 (GRCm39) |
splice site |
probably null |
|
|
R5081:Cyp39a1
|
UTSW |
17 |
44,057,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5197:Cyp39a1
|
UTSW |
17 |
44,057,429 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5405:Cyp39a1
|
UTSW |
17 |
43,987,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5566:Cyp39a1
|
UTSW |
17 |
43,996,099 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5578:Cyp39a1
|
UTSW |
17 |
43,991,031 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6045:Cyp39a1
|
UTSW |
17 |
44,042,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7191:Cyp39a1
|
UTSW |
17 |
44,041,910 (GRCm39) |
nonsense |
probably null |
|
|
R7431:Cyp39a1
|
UTSW |
17 |
43,993,906 (GRCm39) |
missense |
probably benign |
|
|
R7522:Cyp39a1
|
UTSW |
17 |
43,978,370 (GRCm39) |
start gained |
probably benign |
|
|
R7620:Cyp39a1
|
UTSW |
17 |
44,036,544 (GRCm39) |
splice site |
probably null |
|
|
R8022:Cyp39a1
|
UTSW |
17 |
44,057,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8143:Cyp39a1
|
UTSW |
17 |
44,036,517 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8483:Cyp39a1
|
UTSW |
17 |
43,993,898 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8549:Cyp39a1
|
UTSW |
17 |
44,041,886 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8964:Cyp39a1
|
UTSW |
17 |
44,002,558 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9730:Cyp39a1
|
UTSW |
17 |
43,991,029 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Cyp39a1
|
UTSW |
17 |
44,041,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Cyp39a1
|
UTSW |
17 |
44,036,468 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAGACACAGTATCTCTCGG -3'
(R):5'- CCAAAGTGTGTGAAGAATTGAAGTCC -3'
Sequencing Primer
(F):5'- TATCCCTAACACTGGGTAGAGGCTG -3'
(R):5'- TGTGTGAAGAATTGAAGTCCAAGAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation