Incidental Mutation 'RF021:Cyp2a12'
| ID |
603879 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2a12
|
| Ensembl Gene |
ENSMUSG00000060407 |
| Gene Name |
cytochrome P450, family 2, subfamily a, polypeptide 12 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
RF021 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
26728515-26736243 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26734785 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 402
(F402S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074990
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075552]
|
| AlphaFold |
P56593 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075552
AA Change: F402S
PolyPhen 2
Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000074990
Gene: ENSMUSG00000060407
AA Change: F402S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
Pfam:p450
|
33 |
489 |
7.3e-153 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.3%
|
| Validation Efficiency |
91% (50/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A030005L19Rik |
GTGGTGGCTG |
GTGGTGGCTGTGGTGGCTG |
1: 82,891,290 (GRCm39) |
|
probably benign |
Het |
| AI837181 |
CGG |
CGGTGG |
19: 5,475,262 (GRCm39) |
|
probably benign |
Het |
| Ankrd44 |
T |
C |
1: 54,817,471 (GRCm39) |
H79R |
probably damaging |
Het |
| Atg9a |
T |
A |
1: 75,159,273 (GRCm39) |
E826V |
probably damaging |
Het |
| Atrnl1 |
T |
C |
19: 57,630,905 (GRCm39) |
V224A |
probably benign |
Het |
| Bltp1 |
TTATTATTATTAT |
TTATTATTATTATTAATATTATTATTAT |
3: 37,104,897 (GRCm39) |
|
probably benign |
Het |
| Cpn2 |
G |
A |
16: 30,078,156 (GRCm39) |
A515V |
probably benign |
Het |
| Defb22 |
TGCGGCA |
TGCGGCAGAGCTGGGCGTTGCGGCA |
2: 152,327,752 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
G |
T |
5: 124,854,971 (GRCm39) |
V2016F |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,542,290 (GRCm39) |
|
probably null |
Het |
| Efhd2 |
GCC |
GCCGCCCCC |
4: 141,602,084 (GRCm39) |
|
probably benign |
Het |
| Fam131a |
A |
C |
16: 20,513,690 (GRCm39) |
|
probably benign |
Het |
| Gm7247 |
AGACCAGACC |
A |
14: 51,601,781 (GRCm39) |
|
probably benign |
Het |
| Gna13 |
T |
C |
11: 109,283,218 (GRCm39) |
V186A |
probably benign |
Het |
| Grk3 |
T |
A |
5: 113,089,554 (GRCm39) |
I333L |
probably benign |
Het |
| Gstp1 |
A |
T |
19: 4,085,507 (GRCm39) |
V200E |
probably benign |
Het |
| Gtf2h1 |
T |
G |
7: 46,453,289 (GRCm39) |
V74G |
possibly damaging |
Het |
| Kcnh8 |
G |
A |
17: 53,285,267 (GRCm39) |
R1079H |
probably benign |
Het |
| Kiz |
A |
G |
2: 146,712,750 (GRCm39) |
D138G |
possibly damaging |
Het |
| Kmt2b |
TTCTCCT |
TTCTCCTTCTCCT |
7: 30,285,782 (GRCm39) |
|
probably benign |
Het |
| Lats1 |
A |
G |
10: 7,586,372 (GRCm39) |
T912A |
probably damaging |
Het |
| Lce1m |
GCTGCCACC |
GCTGCCACCACTTCTGCCACC |
3: 92,925,576 (GRCm39) |
|
probably benign |
Het |
| Lce1m |
TGCC |
TGCCGCCGCTGCCGCC |
3: 92,925,602 (GRCm39) |
|
probably benign |
Het |
| Lrrc2 |
TTGATTCGGTTCACC |
T |
9: 110,810,744 (GRCm39) |
|
probably null |
Het |
| Med12l |
T |
C |
3: 58,980,711 (GRCm39) |
F359S |
probably benign |
Het |
| Mmut |
A |
G |
17: 41,262,649 (GRCm39) |
I444V |
probably benign |
Het |
| Ncoa2 |
CTTAAAA |
C |
1: 13,219,333 (GRCm39) |
|
probably benign |
Het |
| Ngp |
A |
G |
9: 110,250,824 (GRCm39) |
T114A |
possibly damaging |
Het |
| Nlrc5 |
A |
T |
8: 95,203,516 (GRCm39) |
T539S |
probably benign |
Het |
| Nxf1 |
A |
G |
19: 8,749,673 (GRCm39) |
D190G |
probably damaging |
Het |
| Or6c2b |
A |
T |
10: 128,948,211 (GRCm39) |
F28I |
probably damaging |
Het |
| Or8g2 |
A |
T |
9: 39,821,341 (GRCm39) |
M81L |
probably benign |
Het |
| Pramel16 |
C |
G |
4: 143,675,478 (GRCm39) |
Q449H |
probably damaging |
Het |
| Prdm15 |
G |
A |
16: 97,609,956 (GRCm39) |
H563Y |
probably damaging |
Het |
| Rbm12 |
CAGG |
CAGGGATTGCGGGACCTGGTATTGCGGGACCAGG |
2: 155,938,026 (GRCm39) |
|
probably benign |
Het |
| Sema3g |
C |
T |
14: 30,949,798 (GRCm39) |
H660Y |
probably damaging |
Het |
| Slco1a8 |
A |
T |
6: 141,954,440 (GRCm39) |
V31E |
probably damaging |
Het |
| Smarca2 |
AGCAGCAGCAGCAGCAGCAGCA |
AGCAGCAGCAGCAGCAGCAGCAGCAGCA |
19: 26,608,397 (GRCm39) |
|
probably benign |
Het |
| Stpg2 |
A |
T |
3: 138,918,011 (GRCm39) |
|
probably null |
Het |
| Taar7f |
C |
T |
10: 23,926,321 (GRCm39) |
T305M |
possibly damaging |
Het |
| Tbcb |
C |
T |
7: 29,923,771 (GRCm39) |
V208M |
probably damaging |
Het |
| Tenm2 |
T |
A |
11: 35,915,030 (GRCm39) |
Q2169L |
possibly damaging |
Het |
| Tln1 |
A |
G |
4: 43,555,890 (GRCm39) |
V108A |
probably damaging |
Het |
| Tmc8 |
T |
C |
11: 117,674,060 (GRCm39) |
M42T |
probably benign |
Het |
| Trdc |
T |
C |
14: 54,381,660 (GRCm39) |
V115A |
|
Het |
| Ttbk2 |
A |
G |
2: 120,579,115 (GRCm39) |
V669A |
probably benign |
Het |
| Tusc1 |
GCC |
GCCACCACC |
4: 93,223,553 (GRCm39) |
|
probably benign |
Het |
| Utp25 |
A |
G |
1: 192,802,974 (GRCm39) |
F248L |
probably benign |
Het |
| Vps16 |
A |
G |
2: 130,280,129 (GRCm39) |
H118R |
probably benign |
Het |
| Wdpcp |
T |
A |
11: 21,661,587 (GRCm39) |
C286* |
probably null |
Het |
| Zbed4 |
C |
A |
15: 88,665,439 (GRCm39) |
Y502* |
probably null |
Het |
| Zdbf2 |
T |
A |
1: 63,341,811 (GRCm39) |
N63K |
possibly damaging |
Het |
|
| Other mutations in Cyp2a12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02191:Cyp2a12
|
APN |
7 |
26,736,036 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02306:Cyp2a12
|
APN |
7 |
26,732,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02667:Cyp2a12
|
APN |
7 |
26,730,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02943:Cyp2a12
|
APN |
7 |
26,731,967 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03025:Cyp2a12
|
APN |
7 |
26,730,631 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03230:Cyp2a12
|
APN |
7 |
26,729,017 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
PIT4243001:Cyp2a12
|
UTSW |
7 |
26,734,198 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4618001:Cyp2a12
|
UTSW |
7 |
26,734,198 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0655:Cyp2a12
|
UTSW |
7 |
26,736,046 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0659:Cyp2a12
|
UTSW |
7 |
26,733,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0743:Cyp2a12
|
UTSW |
7 |
26,731,967 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0884:Cyp2a12
|
UTSW |
7 |
26,731,967 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2118:Cyp2a12
|
UTSW |
7 |
26,736,071 (GRCm39) |
makesense |
probably null |
|
|
R2119:Cyp2a12
|
UTSW |
7 |
26,736,071 (GRCm39) |
makesense |
probably null |
|
|
R2120:Cyp2a12
|
UTSW |
7 |
26,736,071 (GRCm39) |
makesense |
probably null |
|
|
R2121:Cyp2a12
|
UTSW |
7 |
26,736,071 (GRCm39) |
makesense |
probably null |
|
|
R2122:Cyp2a12
|
UTSW |
7 |
26,736,071 (GRCm39) |
makesense |
probably null |
|
|
R2124:Cyp2a12
|
UTSW |
7 |
26,736,071 (GRCm39) |
makesense |
probably null |
|
|
R2144:Cyp2a12
|
UTSW |
7 |
26,734,194 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2153:Cyp2a12
|
UTSW |
7 |
26,732,042 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2171:Cyp2a12
|
UTSW |
7 |
26,729,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2182:Cyp2a12
|
UTSW |
7 |
26,730,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2297:Cyp2a12
|
UTSW |
7 |
26,734,057 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4392:Cyp2a12
|
UTSW |
7 |
26,728,700 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4900:Cyp2a12
|
UTSW |
7 |
26,730,640 (GRCm39) |
nonsense |
probably null |
|
|
R4960:Cyp2a12
|
UTSW |
7 |
26,733,575 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5111:Cyp2a12
|
UTSW |
7 |
26,736,046 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5143:Cyp2a12
|
UTSW |
7 |
26,736,036 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5223:Cyp2a12
|
UTSW |
7 |
26,735,888 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5268:Cyp2a12
|
UTSW |
7 |
26,730,643 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5493:Cyp2a12
|
UTSW |
7 |
26,728,550 (GRCm39) |
missense |
unknown |
|
|
R5524:Cyp2a12
|
UTSW |
7 |
26,730,656 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5806:Cyp2a12
|
UTSW |
7 |
26,728,504 (GRCm39) |
splice site |
probably null |
|
|
R6320:Cyp2a12
|
UTSW |
7 |
26,730,577 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6823:Cyp2a12
|
UTSW |
7 |
26,733,581 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7958:Cyp2a12
|
UTSW |
7 |
26,728,677 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8093:Cyp2a12
|
UTSW |
7 |
26,736,054 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8191:Cyp2a12
|
UTSW |
7 |
26,730,529 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8259:Cyp2a12
|
UTSW |
7 |
26,732,083 (GRCm39) |
nonsense |
probably null |
|
|
R9083:Cyp2a12
|
UTSW |
7 |
26,735,944 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9084:Cyp2a12
|
UTSW |
7 |
26,735,944 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9085:Cyp2a12
|
UTSW |
7 |
26,735,944 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9086:Cyp2a12
|
UTSW |
7 |
26,735,944 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Cyp2a12
|
UTSW |
7 |
26,734,845 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATCTCCTACTCCTGGTGGC -3'
(R):5'- GTTAGGTTGCATCACAAAGAGG -3'
Sequencing Primer
(F):5'- ATACTCCCTAATATCCCTTACTCAGG -3'
(R):5'- TTGCATCACAAAGAGGGGAGC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation