Incidental Mutation 'R6859:Cyp4f40'
| ID |
537822 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp4f40
|
| Ensembl Gene |
ENSMUSG00000090700 |
| Gene Name |
cytochrome P450, family 4, subfamily f, polypeptide 40 |
| Synonyms |
EG631304 |
| MMRRC Submission |
044961-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R6859 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
32877874-32895888 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32894923 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 454
(S454P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129536
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165061]
|
| AlphaFold |
G3UW81 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165061
AA Change: S454P
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000129536
Gene: ENSMUSG00000090700
AA Change: S454P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:p450
|
52 |
515 |
2.2e-130 |
PFAM |
|
| Meta Mutation Damage Score |
0.2936 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (42/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, CYP4F11, 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 gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F2, is approximately 16 kb away. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
C |
16: 4,669,799 (GRCm39) |
V788A |
possibly damaging |
Het |
| Abca15 |
A |
T |
7: 120,002,217 (GRCm39) |
K1577* |
probably null |
Het |
| Arhgap12 |
T |
C |
18: 6,111,803 (GRCm39) |
E187G |
probably damaging |
Het |
| Arhgef10 |
T |
A |
8: 15,025,005 (GRCm39) |
Y398N |
probably damaging |
Het |
| Baz2b |
C |
T |
2: 59,731,874 (GRCm39) |
V2055I |
probably benign |
Het |
| Btnl4 |
T |
C |
17: 34,688,353 (GRCm39) |
D475G |
probably damaging |
Het |
| C1qtnf12 |
T |
A |
4: 156,050,070 (GRCm39) |
F190Y |
probably damaging |
Het |
| Cacul1 |
A |
G |
19: 60,522,683 (GRCm39) |
S284P |
probably damaging |
Het |
| Ccdc166 |
C |
A |
15: 75,853,820 (GRCm39) |
V87L |
possibly damaging |
Het |
| Ceacam13 |
C |
T |
7: 17,747,032 (GRCm39) |
P162S |
probably damaging |
Het |
| Cep250 |
T |
A |
2: 155,834,446 (GRCm39) |
S2124T |
probably benign |
Het |
| Chd5 |
T |
C |
4: 152,462,664 (GRCm39) |
S1372P |
probably damaging |
Het |
| Chil3 |
C |
A |
3: 106,067,730 (GRCm39) |
R145L |
probably benign |
Het |
| Defa3 |
T |
A |
8: 21,778,213 (GRCm39) |
C66S |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Glmp |
C |
A |
3: 88,235,349 (GRCm39) |
N260K |
probably benign |
Het |
| Gsap |
T |
A |
5: 21,486,016 (GRCm39) |
L653Q |
probably damaging |
Het |
| Il18rap |
T |
A |
1: 40,564,255 (GRCm39) |
Y124* |
probably null |
Het |
| Lao1 |
A |
C |
4: 118,820,948 (GRCm39) |
K58T |
probably damaging |
Het |
| Lepr |
T |
A |
4: 101,622,487 (GRCm39) |
|
probably null |
Het |
| Mrgpra3 |
G |
C |
7: 47,239,781 (GRCm39) |
I48M |
probably benign |
Het |
| Nck2 |
T |
G |
1: 43,593,511 (GRCm39) |
N239K |
probably benign |
Het |
| Optc |
A |
T |
1: 133,825,554 (GRCm39) |
V324E |
possibly damaging |
Het |
| Or12k7 |
A |
T |
2: 36,958,794 (GRCm39) |
Y159F |
probably damaging |
Het |
| Or4p8 |
A |
G |
2: 88,727,278 (GRCm39) |
I221T |
probably benign |
Het |
| Or51b6 |
G |
A |
7: 103,555,908 (GRCm39) |
W84* |
probably null |
Het |
| Otog |
T |
C |
7: 45,923,205 (GRCm39) |
S1027P |
probably damaging |
Het |
| Plbd2 |
A |
G |
5: 120,641,407 (GRCm39) |
F84L |
probably benign |
Het |
| Plxnb1 |
T |
C |
9: 108,935,838 (GRCm39) |
L110P |
probably damaging |
Het |
| Prnp |
T |
C |
2: 131,778,708 (GRCm39) |
V120A |
possibly damaging |
Het |
| Ptprh |
C |
A |
7: 4,552,370 (GRCm39) |
E965* |
probably null |
Het |
| Reln |
T |
C |
5: 22,239,568 (GRCm39) |
T900A |
probably damaging |
Het |
| Stt3a |
A |
G |
9: 36,646,682 (GRCm39) |
Y644H |
probably damaging |
Het |
| Sulf2 |
A |
G |
2: 165,929,039 (GRCm39) |
Y311H |
probably damaging |
Het |
| Tbc1d32 |
A |
T |
10: 56,056,626 (GRCm39) |
I438N |
probably damaging |
Het |
| Tbcd |
T |
C |
11: 121,387,937 (GRCm39) |
V356A |
possibly damaging |
Het |
| Tecta |
T |
C |
9: 42,303,425 (GRCm39) |
N69S |
probably damaging |
Het |
| Topaz1 |
T |
C |
9: 122,631,023 (GRCm39) |
V1618A |
probably benign |
Het |
| Usp48 |
C |
T |
4: 137,352,587 (GRCm39) |
T627I |
possibly damaging |
Het |
| Vcl |
T |
C |
14: 21,037,143 (GRCm39) |
V247A |
probably damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,693,277 (GRCm39) |
L441P |
probably damaging |
Het |
| Zfp869 |
C |
T |
8: 70,159,175 (GRCm39) |
G466D |
probably damaging |
Het |
|
| Other mutations in Cyp4f40 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01299:Cyp4f40
|
APN |
17 |
32,886,948 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01563:Cyp4f40
|
APN |
17 |
32,892,930 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01801:Cyp4f40
|
APN |
17 |
32,895,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01960:Cyp4f40
|
APN |
17 |
32,878,535 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02387:Cyp4f40
|
APN |
17 |
32,886,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02631:Cyp4f40
|
APN |
17 |
32,894,609 (GRCm39) |
splice site |
probably benign |
|
|
IGL02967:Cyp4f40
|
APN |
17 |
32,893,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0030:Cyp4f40
|
UTSW |
17 |
32,894,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0103:Cyp4f40
|
UTSW |
17 |
32,895,283 (GRCm39) |
nonsense |
probably null |
|
|
R0103:Cyp4f40
|
UTSW |
17 |
32,895,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0180:Cyp4f40
|
UTSW |
17 |
32,878,641 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1413:Cyp4f40
|
UTSW |
17 |
32,892,913 (GRCm39) |
missense |
probably benign |
0.35 |
|
R2882:Cyp4f40
|
UTSW |
17 |
32,887,047 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3903:Cyp4f40
|
UTSW |
17 |
32,878,598 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4378:Cyp4f40
|
UTSW |
17 |
32,887,003 (GRCm39) |
missense |
probably null |
0.44 |
|
R4465:Cyp4f40
|
UTSW |
17 |
32,890,186 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4808:Cyp4f40
|
UTSW |
17 |
32,893,249 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5377:Cyp4f40
|
UTSW |
17 |
32,894,590 (GRCm39) |
missense |
probably null |
0.61 |
|
R5395:Cyp4f40
|
UTSW |
17 |
32,888,827 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5523:Cyp4f40
|
UTSW |
17 |
32,888,796 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5889:Cyp4f40
|
UTSW |
17 |
32,894,731 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6624:Cyp4f40
|
UTSW |
17 |
32,890,154 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6692:Cyp4f40
|
UTSW |
17 |
32,894,716 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7792:Cyp4f40
|
UTSW |
17 |
32,890,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8324:Cyp4f40
|
UTSW |
17 |
32,878,502 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8711:Cyp4f40
|
UTSW |
17 |
32,894,962 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R8755:Cyp4f40
|
UTSW |
17 |
32,886,957 (GRCm39) |
nonsense |
probably null |
|
|
R8913:Cyp4f40
|
UTSW |
17 |
32,886,810 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9013:Cyp4f40
|
UTSW |
17 |
32,890,173 (GRCm39) |
missense |
probably benign |
|
|
R9548:Cyp4f40
|
UTSW |
17 |
32,890,158 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1088:Cyp4f40
|
UTSW |
17 |
32,892,976 (GRCm39) |
splice site |
probably null |
|
|
Z1177:Cyp4f40
|
UTSW |
17 |
32,895,423 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Cyp4f40
|
UTSW |
17 |
32,890,133 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACAACCCAACTGTGTGGC -3'
(R):5'- TCGAGTTTAGGCCACAATACAAC -3'
Sequencing Primer
(F):5'- AACTGTGTGGCGGGACC -3'
(R):5'- GAGCCCCACAGCTATTGC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation