Incidental Mutation 'R1226:Cyp4a12b'
| ID |
152223 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp4a12b
|
| Ensembl Gene |
ENSMUSG00000078597 |
| Gene Name |
cytochrome P450, family 4, subfamily a, polypeptide 12B |
| Synonyms |
|
| MMRRC Submission |
039295-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R1226 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
115268821-115296231 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 115290164 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 239
(I239N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092487
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094887]
|
| AlphaFold |
A2A974 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094887
AA Change: I239N
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000092487
Gene: ENSMUSG00000078597
AA Change: I239N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
39 |
N/A |
INTRINSIC |
|
Pfam:p450
|
51 |
503 |
1.9e-132 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.4%
- 10x: 96.3%
- 20x: 92.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Abcd2 |
G |
T |
15: 91,075,246 (GRCm39) |
A189E |
probably benign |
Het |
| Ahcy |
T |
C |
2: 154,906,817 (GRCm39) |
T159A |
probably benign |
Het |
| Arfgef2 |
T |
C |
2: 166,669,560 (GRCm39) |
V84A |
probably damaging |
Het |
| Brwd1 |
G |
A |
16: 95,832,748 (GRCm39) |
T1036M |
probably benign |
Het |
| Ccdc187 |
G |
T |
2: 26,166,133 (GRCm39) |
S765R |
probably damaging |
Het |
| Cfap210 |
A |
G |
2: 69,617,553 (GRCm39) |
M76T |
possibly damaging |
Het |
| Chd1l |
G |
A |
3: 97,469,941 (GRCm39) |
R862* |
probably null |
Het |
| Crmp1 |
A |
G |
5: 37,430,778 (GRCm39) |
D71G |
probably damaging |
Het |
| Ctif |
CTGTGTCCGGTGT |
CTGT |
18: 75,654,650 (GRCm39) |
|
probably benign |
Het |
| Ctsb |
A |
C |
14: 63,379,189 (GRCm39) |
Y267S |
probably damaging |
Het |
| Dna2 |
T |
C |
10: 62,796,203 (GRCm39) |
V544A |
possibly damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,346,106 (GRCm39) |
F2364Y |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,811,355 (GRCm39) |
E2558V |
probably damaging |
Het |
| Gm10061 |
A |
C |
16: 88,948,169 (GRCm39) |
Y48S |
unknown |
Het |
| Herc1 |
T |
A |
9: 66,323,545 (GRCm39) |
M1353K |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lin7a |
T |
C |
10: 107,107,780 (GRCm39) |
V20A |
probably benign |
Het |
| Lsr |
T |
A |
7: 30,671,308 (GRCm39) |
I142F |
probably damaging |
Het |
| Mei1 |
C |
T |
15: 81,964,285 (GRCm39) |
T275I |
possibly damaging |
Het |
| Mon2 |
A |
G |
10: 122,838,724 (GRCm39) |
V1593A |
probably benign |
Het |
| Mrpl32 |
A |
G |
13: 14,786,096 (GRCm39) |
I74T |
probably benign |
Het |
| Nek11 |
C |
T |
9: 105,270,091 (GRCm39) |
V44I |
probably damaging |
Het |
| Noa1 |
A |
G |
5: 77,455,402 (GRCm39) |
V438A |
possibly damaging |
Het |
| Or5an1c |
A |
C |
19: 12,218,950 (GRCm39) |
I25R |
probably benign |
Het |
| Or7g16 |
C |
T |
9: 18,727,266 (GRCm39) |
C108Y |
probably benign |
Het |
| Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
| Pcdhb17 |
T |
C |
18: 37,620,313 (GRCm39) |
L701P |
probably damaging |
Het |
| Pde11a |
G |
A |
2: 75,988,698 (GRCm39) |
S481L |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,491,861 (GRCm39) |
I602T |
possibly damaging |
Het |
| Ptprh |
T |
A |
7: 4,606,091 (GRCm39) |
R3* |
probably null |
Het |
| Reln |
A |
G |
5: 22,115,864 (GRCm39) |
L3048P |
probably damaging |
Het |
| Slc6a11 |
T |
A |
6: 114,171,624 (GRCm39) |
I265N |
possibly damaging |
Het |
| Sorbs2 |
T |
C |
8: 46,248,656 (GRCm39) |
S636P |
probably damaging |
Het |
| Supt5 |
T |
C |
7: 28,028,172 (GRCm39) |
I44V |
probably benign |
Het |
| Tdrd6 |
T |
A |
17: 43,937,523 (GRCm39) |
E1175V |
possibly damaging |
Het |
| Tnxb |
A |
C |
17: 34,907,903 (GRCm39) |
T1316P |
probably damaging |
Het |
| Ufc1 |
A |
C |
1: 171,116,810 (GRCm39) |
D119E |
probably benign |
Het |
| Vmn1r220 |
A |
G |
13: 23,368,294 (GRCm39) |
F134S |
probably damaging |
Het |
| Zfp106 |
A |
G |
2: 120,354,560 (GRCm39) |
S1404P |
probably damaging |
Het |
| Zfp866 |
A |
G |
8: 70,218,940 (GRCm39) |
F227L |
probably damaging |
Het |
| Zfyve28 |
A |
T |
5: 34,374,408 (GRCm39) |
H535Q |
probably benign |
Het |
|
| Other mutations in Cyp4a12b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00850:Cyp4a12b
|
APN |
4 |
115,295,246 (GRCm39) |
splice site |
probably null |
|
|
IGL01571:Cyp4a12b
|
APN |
4 |
115,295,354 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02230:Cyp4a12b
|
APN |
4 |
115,291,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02720:Cyp4a12b
|
APN |
4 |
115,292,368 (GRCm39) |
splice site |
probably benign |
|
|
IGL03118:Cyp4a12b
|
APN |
4 |
115,290,173 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL03389:Cyp4a12b
|
APN |
4 |
115,291,005 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0360:Cyp4a12b
|
UTSW |
4 |
115,290,117 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0364:Cyp4a12b
|
UTSW |
4 |
115,290,117 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0844:Cyp4a12b
|
UTSW |
4 |
115,289,721 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1232:Cyp4a12b
|
UTSW |
4 |
115,289,760 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1372:Cyp4a12b
|
UTSW |
4 |
115,290,146 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1559:Cyp4a12b
|
UTSW |
4 |
115,291,181 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1782:Cyp4a12b
|
UTSW |
4 |
115,291,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1817:Cyp4a12b
|
UTSW |
4 |
115,271,259 (GRCm39) |
splice site |
probably benign |
|
|
R1941:Cyp4a12b
|
UTSW |
4 |
115,295,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1978:Cyp4a12b
|
UTSW |
4 |
115,295,342 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2063:Cyp4a12b
|
UTSW |
4 |
115,290,700 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2109:Cyp4a12b
|
UTSW |
4 |
115,290,110 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2911:Cyp4a12b
|
UTSW |
4 |
115,290,723 (GRCm39) |
nonsense |
probably null |
|
|
R3791:Cyp4a12b
|
UTSW |
4 |
115,292,167 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3815:Cyp4a12b
|
UTSW |
4 |
115,289,667 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3816:Cyp4a12b
|
UTSW |
4 |
115,289,667 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3817:Cyp4a12b
|
UTSW |
4 |
115,289,667 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3818:Cyp4a12b
|
UTSW |
4 |
115,289,667 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4586:Cyp4a12b
|
UTSW |
4 |
115,289,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5004:Cyp4a12b
|
UTSW |
4 |
115,295,310 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5105:Cyp4a12b
|
UTSW |
4 |
115,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5354:Cyp4a12b
|
UTSW |
4 |
115,290,661 (GRCm39) |
splice site |
probably null |
|
|
R5655:Cyp4a12b
|
UTSW |
4 |
115,290,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5814:Cyp4a12b
|
UTSW |
4 |
115,289,694 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5952:Cyp4a12b
|
UTSW |
4 |
115,271,714 (GRCm39) |
nonsense |
probably null |
|
|
R6004:Cyp4a12b
|
UTSW |
4 |
115,290,664 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6059:Cyp4a12b
|
UTSW |
4 |
115,295,301 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6261:Cyp4a12b
|
UTSW |
4 |
115,271,740 (GRCm39) |
nonsense |
probably null |
|
|
R7484:Cyp4a12b
|
UTSW |
4 |
115,289,760 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7734:Cyp4a12b
|
UTSW |
4 |
115,268,937 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8545:Cyp4a12b
|
UTSW |
4 |
115,290,227 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9031:Cyp4a12b
|
UTSW |
4 |
115,290,865 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9497:Cyp4a12b
|
UTSW |
4 |
115,271,768 (GRCm39) |
missense |
probably benign |
0.36 |
|
RF045:Cyp4a12b
|
UTSW |
4 |
115,289,690 (GRCm39) |
missense |
probably benign |
0.23 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAAGCCTGAATGGGAAGCCATC -3'
(R):5'- AGAGGACCAAAGGACTTGGCTCTG -3'
Sequencing Primer
(F):5'- TGGGAAGCCATCTTCTAAAGAC -3'
(R):5'- TGGCTCTGCCTCAGAATTATG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation