Incidental Mutation 'R4375:Cyp4b1'
| ID |
325064 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp4b1
|
| Ensembl Gene |
ENSMUSG00000028713 |
| Gene Name |
cytochrome P450, family 4, subfamily b, polypeptide 1 |
| Synonyms |
|
| MMRRC Submission |
041119-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4375 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
115481922-115504920 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 115493510 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 191
(T191A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099768
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102707]
|
| AlphaFold |
Q64462 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102707
AA Change: T191A
PolyPhen 2
Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000099768
Gene: ENSMUSG00000028713
AA Change: T191A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:p450
|
46 |
501 |
1.3e-130 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000135569
AA Change: T67A
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143237
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000145841
AA Change: T101A
|
| SMART Domains |
Protein: ENSMUSP00000118323
Gene: ENSMUSG00000028713
AA Change: T101A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
1 |
375 |
3.5e-101 |
PFAM |
|
| Meta Mutation Damage Score |
0.2226 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (37/37) |
| 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 endoplasmic reticulum. In rodents, the homologous protein has been shown to metabolize certain carcinogens; however, the specific function of the human protein has not been determined. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit resistance to 4-ipomeanol activation and toxicity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adhfe1 |
A |
T |
1: 9,631,853 (GRCm39) |
|
probably benign |
Het |
| Cd209c |
T |
C |
8: 4,004,635 (GRCm39) |
|
noncoding transcript |
Het |
| Cntnap1 |
A |
G |
11: 101,073,079 (GRCm39) |
D561G |
probably damaging |
Het |
| Csf1 |
T |
A |
3: 107,664,055 (GRCm39) |
T38S |
probably damaging |
Het |
| Dapk1 |
A |
T |
13: 60,909,403 (GRCm39) |
M1339L |
probably benign |
Het |
| Dpm3 |
T |
C |
3: 89,174,215 (GRCm39) |
Y59H |
probably damaging |
Het |
| Eif2ak4 |
A |
G |
2: 118,258,405 (GRCm39) |
Y585C |
probably damaging |
Het |
| Ercc1 |
G |
A |
7: 19,081,057 (GRCm39) |
|
probably benign |
Het |
| Fam184b |
T |
C |
5: 45,699,685 (GRCm39) |
D577G |
probably benign |
Het |
| Gon4l |
C |
A |
3: 88,814,694 (GRCm39) |
P1888T |
probably benign |
Het |
| Hsf2bp |
C |
T |
17: 32,206,322 (GRCm39) |
D270N |
probably null |
Het |
| Lactbl1 |
T |
C |
4: 136,364,902 (GRCm39) |
V418A |
possibly damaging |
Het |
| Lifr |
A |
T |
15: 7,196,379 (GRCm39) |
M188L |
probably benign |
Het |
| Ltbp1 |
G |
T |
17: 75,619,992 (GRCm39) |
G760V |
probably damaging |
Het |
| Marchf11 |
A |
G |
15: 26,309,532 (GRCm39) |
E62G |
probably damaging |
Het |
| Nlrp12 |
A |
G |
7: 3,289,576 (GRCm39) |
L312P |
possibly damaging |
Het |
| Or1l4 |
T |
A |
2: 37,091,574 (GRCm39) |
M107K |
probably benign |
Het |
| Or52ae7 |
T |
C |
7: 103,119,278 (GRCm39) |
S11P |
probably damaging |
Het |
| Or8c20 |
T |
C |
9: 38,260,465 (GRCm39) |
F23L |
probably benign |
Het |
| Pcdh17 |
T |
C |
14: 84,685,711 (GRCm39) |
V726A |
possibly damaging |
Het |
| Pdia4 |
G |
A |
6: 47,775,326 (GRCm39) |
R495W |
probably damaging |
Het |
| Phf20l1 |
T |
C |
15: 66,487,071 (GRCm39) |
S369P |
probably benign |
Het |
| Polq |
G |
T |
16: 36,833,543 (GRCm39) |
V79F |
probably damaging |
Het |
| Prcc |
A |
G |
3: 87,774,714 (GRCm39) |
Y363H |
probably damaging |
Het |
| Proser3 |
A |
G |
7: 30,240,096 (GRCm39) |
V336A |
possibly damaging |
Het |
| Rbbp8 |
C |
T |
18: 11,858,467 (GRCm39) |
T646M |
probably benign |
Het |
| Rgs1 |
T |
C |
1: 144,123,644 (GRCm39) |
T94A |
probably benign |
Het |
| Rpl11 |
G |
A |
4: 135,778,454 (GRCm39) |
|
probably benign |
Het |
| Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
| Snx9 |
G |
A |
17: 5,958,901 (GRCm39) |
W292* |
probably null |
Het |
| St14 |
T |
C |
9: 31,001,754 (GRCm39) |
I784V |
probably benign |
Het |
| Steep1 |
C |
A |
X: 36,087,812 (GRCm39) |
C206F |
probably benign |
Het |
| Strc |
A |
G |
2: 121,211,304 (GRCm39) |
S14P |
unknown |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Ubap1 |
G |
A |
4: 41,371,850 (GRCm39) |
|
probably null |
Het |
| Zfr |
T |
C |
15: 12,118,426 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Cyp4b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01677:Cyp4b1
|
APN |
4 |
115,493,479 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02484:Cyp4b1
|
APN |
4 |
115,504,754 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03111:Cyp4b1
|
APN |
4 |
115,493,066 (GRCm39) |
splice site |
probably benign |
|
|
IGL03340:Cyp4b1
|
APN |
4 |
115,499,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0026:Cyp4b1
|
UTSW |
4 |
115,504,718 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0026:Cyp4b1
|
UTSW |
4 |
115,504,718 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0143:Cyp4b1
|
UTSW |
4 |
115,493,071 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0532:Cyp4b1
|
UTSW |
4 |
115,484,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0725:Cyp4b1
|
UTSW |
4 |
115,484,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0970:Cyp4b1
|
UTSW |
4 |
115,492,833 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1084:Cyp4b1
|
UTSW |
4 |
115,497,509 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1570:Cyp4b1
|
UTSW |
4 |
115,493,160 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1626:Cyp4b1
|
UTSW |
4 |
115,498,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1966:Cyp4b1
|
UTSW |
4 |
115,483,076 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2279:Cyp4b1
|
UTSW |
4 |
115,497,557 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2396:Cyp4b1
|
UTSW |
4 |
115,498,843 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2679:Cyp4b1
|
UTSW |
4 |
115,485,894 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2885:Cyp4b1
|
UTSW |
4 |
115,492,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3176:Cyp4b1
|
UTSW |
4 |
115,483,047 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R3276:Cyp4b1
|
UTSW |
4 |
115,483,047 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7221:Cyp4b1
|
UTSW |
4 |
115,493,175 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7584:Cyp4b1
|
UTSW |
4 |
115,485,884 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7699:Cyp4b1
|
UTSW |
4 |
115,499,162 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8867:Cyp4b1
|
UTSW |
4 |
115,493,169 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9076:Cyp4b1
|
UTSW |
4 |
115,482,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9440:Cyp4b1
|
UTSW |
4 |
115,493,581 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0058:Cyp4b1
|
UTSW |
4 |
115,485,975 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAAAGTGTCTCCCACCATGAGTAG -3'
(R):5'- GGAGTCTGCTACACATCTGG -3'
Sequencing Primer
(F):5'- CCATGAGTAGGCTCTGGACATATC -3'
(R):5'- GTCTGCTACACATCTGGGAATAAG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation