Incidental Mutation 'R6826:Cyp11a1'
| ID |
534171 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp11a1
|
| Ensembl Gene |
ENSMUSG00000032323 |
| Gene Name |
cytochrome P450, family 11, subfamily a, polypeptide 1 |
| Synonyms |
Cyp11a, D9Ertd411e, Scc, P450scc, cholesterol side chain cleavage, cscc |
| MMRRC Submission |
045019-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6826 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
57913694-57934306 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57932370 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 228
(T228A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140777
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034874]
[ENSMUST00000042205]
[ENSMUST00000098682]
[ENSMUST00000119665]
[ENSMUST00000188116]
[ENSMUST00000188539]
[ENSMUST00000215944]
|
| AlphaFold |
Q9QZ82 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034874
AA Change: T330A
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000034874
Gene: ENSMUSG00000032323
AA Change: T330A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
41 |
N/A |
INTRINSIC |
|
Pfam:p450
|
49 |
507 |
1.8e-120 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042205
|
| SMART Domains |
Protein: ENSMUSP00000040899
Gene: ENSMUSG00000037716
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
36 |
140 |
5.79e-3 |
SMART |
|
coiled coil region
|
413 |
451 |
N/A |
INTRINSIC |
|
coiled coil region
|
472 |
560 |
N/A |
INTRINSIC |
|
coiled coil region
|
630 |
668 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098682
|
| SMART Domains |
Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
281 |
385 |
5.79e-3 |
SMART |
|
coiled coil region
|
598 |
636 |
N/A |
INTRINSIC |
|
coiled coil region
|
657 |
745 |
N/A |
INTRINSIC |
|
coiled coil region
|
884 |
922 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119665
|
| SMART Domains |
Protein: ENSMUSP00000112613
Gene: ENSMUSG00000037716
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
36 |
140 |
5.79e-3 |
SMART |
|
coiled coil region
|
413 |
559 |
N/A |
INTRINSIC |
|
coiled coil region
|
629 |
667 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188116
|
| SMART Domains |
Protein: ENSMUSP00000140545
Gene: ENSMUSG00000032323
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
32 |
115 |
3.5e-12 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188539
AA Change: T228A
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140777
Gene: ENSMUSG00000032323
AA Change: T228A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
23 |
279 |
2.6e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215944
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and catalyzes the conversion of cholesterol to pregnenolone, the first and rate-limiting step in the synthesis of the steroid hormones. Two transcript variants encoding different isoforms have been found for this gene. The cellular location of the smaller isoform is unclear since it lacks the mitochondrial-targeting transit peptide. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are exhibit a steroid deficiency and die within days of birth showing signs of dehydration. Males are feminized with female external genitalia and underdeveloped gonads. Mice homozgyous for another knock-out allele exhibit abnormal adrenal development and neonatal lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,107,431 (GRCm39) |
N728S |
probably benign |
Het |
| Acaca |
T |
C |
11: 84,086,362 (GRCm39) |
S63P |
probably damaging |
Het |
| Akr1c12 |
A |
G |
13: 4,325,733 (GRCm39) |
V120A |
probably benign |
Het |
| Ap4b1 |
G |
A |
3: 103,720,224 (GRCm39) |
|
probably null |
Het |
| Apol7e |
T |
A |
15: 77,602,491 (GRCm39) |
V363D |
probably damaging |
Het |
| Bmpr1b |
A |
T |
3: 141,563,167 (GRCm39) |
L259Q |
probably damaging |
Het |
| Cdhr17 |
A |
G |
5: 17,013,292 (GRCm39) |
I219V |
unknown |
Het |
| Clca3a2 |
T |
C |
3: 144,523,815 (GRCm39) |
T57A |
possibly damaging |
Het |
| Copb1 |
T |
C |
7: 113,825,954 (GRCm39) |
T677A |
probably benign |
Het |
| Crhr2 |
T |
C |
6: 55,094,725 (GRCm39) |
|
probably benign |
Het |
| Dnah1 |
T |
C |
14: 31,008,247 (GRCm39) |
I2084V |
probably benign |
Het |
| Dnajc17 |
T |
C |
2: 119,011,408 (GRCm39) |
K174R |
probably damaging |
Het |
| Dnm2 |
T |
A |
9: 21,415,767 (GRCm39) |
Y646* |
probably null |
Het |
| Dock9 |
G |
A |
14: 121,860,330 (GRCm39) |
P866L |
probably damaging |
Het |
| Elmo3 |
A |
T |
8: 106,033,378 (GRCm39) |
I115F |
probably damaging |
Het |
| Elmod1 |
T |
C |
9: 53,826,883 (GRCm39) |
T268A |
probably benign |
Het |
| F10 |
T |
C |
8: 13,096,165 (GRCm39) |
|
probably null |
Het |
| Fmo4 |
C |
T |
1: 162,631,338 (GRCm39) |
V210M |
probably damaging |
Het |
| Foxred2 |
G |
T |
15: 77,831,285 (GRCm39) |
H509Q |
probably benign |
Het |
| Hyal6 |
A |
G |
6: 24,734,371 (GRCm39) |
I101M |
probably damaging |
Het |
| Igkv5-48 |
T |
C |
6: 69,703,584 (GRCm39) |
Y107C |
probably damaging |
Het |
| Jag1 |
A |
G |
2: 136,958,095 (GRCm39) |
|
probably null |
Het |
| Leng8 |
T |
A |
7: 4,148,319 (GRCm39) |
V697E |
probably damaging |
Het |
| Mdga1 |
T |
C |
17: 30,189,000 (GRCm39) |
N21S |
unknown |
Het |
| Midn |
T |
A |
10: 79,989,961 (GRCm39) |
C126* |
probably null |
Het |
| Mlh3 |
A |
T |
12: 85,292,598 (GRCm39) |
V1303E |
probably benign |
Het |
| Myh4 |
T |
C |
11: 67,137,357 (GRCm39) |
L526P |
probably damaging |
Het |
| Or10ag55-ps1 |
G |
A |
2: 87,114,672 (GRCm39) |
E13K |
probably benign |
Het |
| Or5b3 |
T |
A |
19: 13,388,452 (GRCm39) |
V173E |
probably benign |
Het |
| Pde6b |
C |
T |
5: 108,578,458 (GRCm39) |
R799* |
probably null |
Het |
| Pde9a |
A |
G |
17: 31,685,414 (GRCm39) |
D382G |
probably benign |
Het |
| Pdrg1 |
A |
C |
2: 152,852,176 (GRCm39) |
|
probably null |
Het |
| Peg10 |
C |
CATCAGGATG |
6: 4,756,353 (GRCm39) |
|
probably benign |
Het |
| Ppp1r3a |
C |
A |
6: 14,718,980 (GRCm39) |
E645* |
probably null |
Het |
| Prrc2b |
A |
G |
2: 32,112,300 (GRCm39) |
|
probably null |
Het |
| Ptprb |
T |
A |
10: 116,153,277 (GRCm39) |
M578K |
probably benign |
Het |
| Rasgrp3 |
G |
T |
17: 75,810,241 (GRCm39) |
V314F |
probably damaging |
Het |
| Rps9 |
C |
A |
7: 3,708,775 (GRCm39) |
D84E |
probably benign |
Het |
| Sdf2l1 |
C |
G |
16: 16,950,158 (GRCm39) |
R6P |
probably benign |
Het |
| Serpina1e |
A |
G |
12: 103,915,397 (GRCm39) |
F270L |
probably benign |
Het |
| Slc24a5 |
G |
A |
2: 124,910,778 (GRCm39) |
V70I |
probably benign |
Het |
| Slfn14 |
C |
A |
11: 83,172,644 (GRCm39) |
|
probably null |
Het |
| Smcr8 |
G |
T |
11: 60,669,688 (GRCm39) |
D279Y |
possibly damaging |
Het |
| Snx16 |
A |
T |
3: 10,503,148 (GRCm39) |
V33D |
probably damaging |
Het |
| Tesc |
A |
G |
5: 118,194,483 (GRCm39) |
T131A |
probably damaging |
Het |
| Tnfaip8l3 |
G |
T |
9: 53,934,783 (GRCm39) |
T64K |
possibly damaging |
Het |
| Vmn2r1 |
T |
A |
3: 64,012,567 (GRCm39) |
Y809* |
probably null |
Het |
| Vmn2r25 |
A |
G |
6: 123,800,071 (GRCm39) |
V757A |
probably damaging |
Het |
| Vmn2r3 |
A |
T |
3: 64,182,327 (GRCm39) |
Y457* |
probably null |
Het |
| Wee1 |
T |
C |
7: 109,723,870 (GRCm39) |
|
probably null |
Het |
| Wfdc3 |
C |
T |
2: 164,576,178 (GRCm39) |
G38R |
possibly damaging |
Het |
| Zfp541 |
A |
G |
7: 15,812,907 (GRCm39) |
E520G |
probably damaging |
Het |
| Zfp579 |
G |
T |
7: 4,997,425 (GRCm39) |
A162D |
probably benign |
Het |
| Zfp811 |
A |
G |
17: 33,016,762 (GRCm39) |
F425S |
probably damaging |
Het |
|
| Other mutations in Cyp11a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00675:Cyp11a1
|
APN |
9 |
57,926,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01122:Cyp11a1
|
APN |
9 |
57,923,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01993:Cyp11a1
|
APN |
9 |
57,928,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4431001:Cyp11a1
|
UTSW |
9 |
57,923,555 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0347:Cyp11a1
|
UTSW |
9 |
57,923,543 (GRCm39) |
unclassified |
probably benign |
|
|
R1446:Cyp11a1
|
UTSW |
9 |
57,922,560 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1774:Cyp11a1
|
UTSW |
9 |
57,925,643 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1918:Cyp11a1
|
UTSW |
9 |
57,934,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2935:Cyp11a1
|
UTSW |
9 |
57,923,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3724:Cyp11a1
|
UTSW |
9 |
57,926,605 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4866:Cyp11a1
|
UTSW |
9 |
57,933,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5301:Cyp11a1
|
UTSW |
9 |
57,926,544 (GRCm39) |
intron |
probably benign |
|
|
R5718:Cyp11a1
|
UTSW |
9 |
57,925,508 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5787:Cyp11a1
|
UTSW |
9 |
57,922,550 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5988:Cyp11a1
|
UTSW |
9 |
57,928,117 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6044:Cyp11a1
|
UTSW |
9 |
57,933,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6286:Cyp11a1
|
UTSW |
9 |
57,924,701 (GRCm39) |
intron |
probably benign |
|
|
R6306:Cyp11a1
|
UTSW |
9 |
57,932,383 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6325:Cyp11a1
|
UTSW |
9 |
57,932,851 (GRCm39) |
missense |
probably benign |
|
|
R6931:Cyp11a1
|
UTSW |
9 |
57,932,403 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6960:Cyp11a1
|
UTSW |
9 |
57,925,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7900:Cyp11a1
|
UTSW |
9 |
57,923,667 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8947:Cyp11a1
|
UTSW |
9 |
57,924,738 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8986:Cyp11a1
|
UTSW |
9 |
57,925,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9347:Cyp11a1
|
UTSW |
9 |
57,928,141 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9592:Cyp11a1
|
UTSW |
9 |
57,925,605 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTCGGAATATCCCTTCCTAGG -3'
(R):5'- TGGACTTGCCTCAGTGTCTC -3'
Sequencing Primer
(F):5'- CATACTCAACATATATGGTGCCGGG -3'
(R):5'- CAGTGTCTCCTTGATGCTGGC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation