Incidental Mutation 'R3423:Cyp4a12a'
| ID |
267108 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp4a12a
|
| Ensembl Gene |
ENSMUSG00000066071 |
| Gene Name |
cytochrome P450, family 4, subfamily a, polypeptide 12a |
| Synonyms |
Cyp4a12 |
| MMRRC Submission |
040641-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R3423 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
115156243-115190012 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 115184471 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Threonine
at position 282
(K282T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081370
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084343]
|
| AlphaFold |
Q91WL5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084343
AA Change: K282T
PolyPhen 2
Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000081370
Gene: ENSMUSG00000066071
AA Change: K282T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
39 |
N/A |
INTRINSIC |
|
Pfam:p450
|
51 |
503 |
1e-131 |
PFAM |
|
| Meta Mutation Damage Score |
0.1408 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (38/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap8 |
A |
G |
17: 32,535,429 (GRCm39) |
F195S |
possibly damaging |
Het |
| Aldh3a1 |
G |
A |
11: 61,106,362 (GRCm39) |
A246T |
probably damaging |
Het |
| Caskin1 |
T |
A |
17: 24,718,539 (GRCm39) |
N331K |
probably damaging |
Het |
| Ceacam5 |
G |
A |
7: 17,491,562 (GRCm39) |
S644N |
possibly damaging |
Het |
| Csmd3 |
A |
T |
15: 47,710,648 (GRCm39) |
D1646E |
probably damaging |
Het |
| Dtnb |
C |
T |
12: 3,641,962 (GRCm39) |
R42* |
probably null |
Het |
| Dyrk3 |
A |
G |
1: 131,057,219 (GRCm39) |
I318T |
probably damaging |
Het |
| Fhip2b |
G |
A |
14: 70,824,025 (GRCm39) |
T535M |
probably damaging |
Het |
| Gm11110 |
T |
C |
17: 57,410,435 (GRCm39) |
|
probably benign |
Het |
| Gm8674 |
T |
A |
13: 50,055,792 (GRCm39) |
|
noncoding transcript |
Het |
| Igfn1 |
A |
G |
1: 135,926,379 (GRCm39) |
S24P |
probably benign |
Het |
| Inpp4b |
A |
G |
8: 82,678,890 (GRCm39) |
M307V |
possibly damaging |
Het |
| Ism2 |
T |
C |
12: 87,333,871 (GRCm39) |
N58S |
probably benign |
Het |
| Kmt2a |
A |
C |
9: 44,731,394 (GRCm39) |
|
probably benign |
Het |
| Limk1 |
A |
G |
5: 134,701,523 (GRCm39) |
|
probably null |
Het |
| Lrrc14 |
T |
A |
15: 76,597,318 (GRCm39) |
|
probably null |
Het |
| Mapt |
C |
T |
11: 104,189,548 (GRCm39) |
R189* |
probably null |
Het |
| Meltf |
C |
T |
16: 31,715,343 (GRCm39) |
R679* |
probably null |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Mug2 |
T |
C |
6: 122,024,465 (GRCm39) |
|
probably benign |
Het |
| Myo15a |
G |
A |
11: 60,401,126 (GRCm39) |
|
probably null |
Het |
| Nup98 |
T |
C |
7: 101,834,084 (GRCm39) |
T293A |
probably benign |
Het |
| Nwd2 |
A |
T |
5: 63,957,504 (GRCm39) |
Y278F |
probably damaging |
Het |
| Or12d12 |
T |
A |
17: 37,610,761 (GRCm39) |
D184V |
probably benign |
Het |
| Phactr4 |
A |
C |
4: 132,097,058 (GRCm39) |
D496E |
probably benign |
Het |
| Pramel6 |
T |
A |
2: 87,341,140 (GRCm39) |
|
probably null |
Het |
| Ptprq |
C |
T |
10: 107,418,337 (GRCm39) |
A1680T |
probably damaging |
Het |
| Retnlb |
T |
A |
16: 48,639,008 (GRCm39) |
C70S |
probably damaging |
Het |
| Ros1 |
C |
A |
10: 52,004,512 (GRCm39) |
|
probably null |
Het |
| Sez6l |
T |
C |
5: 112,574,615 (GRCm39) |
D875G |
probably damaging |
Het |
| Slc18b1 |
T |
G |
10: 23,698,874 (GRCm39) |
M348R |
probably damaging |
Het |
| Slc36a3 |
G |
T |
11: 55,033,607 (GRCm39) |
T137K |
probably benign |
Het |
| Sos2 |
T |
C |
12: 69,650,327 (GRCm39) |
N865D |
probably damaging |
Het |
| Sp9 |
G |
A |
2: 73,104,315 (GRCm39) |
A290T |
probably benign |
Het |
| Spg11 |
C |
T |
2: 121,901,534 (GRCm39) |
V1469I |
probably benign |
Het |
| Unc13c |
G |
T |
9: 73,837,935 (GRCm39) |
A972D |
possibly damaging |
Het |
| Vwa3a |
T |
C |
7: 120,398,334 (GRCm39) |
L945P |
probably damaging |
Het |
|
| Other mutations in Cyp4a12a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00931:Cyp4a12a
|
APN |
4 |
115,159,153 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL00948:Cyp4a12a
|
APN |
4 |
115,159,159 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03143:Cyp4a12a
|
APN |
4 |
115,159,200 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0099:Cyp4a12a
|
UTSW |
4 |
115,183,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0371:Cyp4a12a
|
UTSW |
4 |
115,183,880 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1893:Cyp4a12a
|
UTSW |
4 |
115,183,864 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2018:Cyp4a12a
|
UTSW |
4 |
115,184,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4445:Cyp4a12a
|
UTSW |
4 |
115,183,980 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4586:Cyp4a12a
|
UTSW |
4 |
115,184,509 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4765:Cyp4a12a
|
UTSW |
4 |
115,183,388 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4823:Cyp4a12a
|
UTSW |
4 |
115,184,610 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5131:Cyp4a12a
|
UTSW |
4 |
115,185,017 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5841:Cyp4a12a
|
UTSW |
4 |
115,183,899 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6017:Cyp4a12a
|
UTSW |
4 |
115,183,476 (GRCm39) |
nonsense |
probably null |
|
|
R6039:Cyp4a12a
|
UTSW |
4 |
115,184,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6039:Cyp4a12a
|
UTSW |
4 |
115,184,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6170:Cyp4a12a
|
UTSW |
4 |
115,184,643 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R6883:Cyp4a12a
|
UTSW |
4 |
115,159,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7308:Cyp4a12a
|
UTSW |
4 |
115,184,955 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7327:Cyp4a12a
|
UTSW |
4 |
115,184,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7452:Cyp4a12a
|
UTSW |
4 |
115,184,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7595:Cyp4a12a
|
UTSW |
4 |
115,189,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7638:Cyp4a12a
|
UTSW |
4 |
115,184,670 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8040:Cyp4a12a
|
UTSW |
4 |
115,183,412 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8303:Cyp4a12a
|
UTSW |
4 |
115,186,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8491:Cyp4a12a
|
UTSW |
4 |
115,158,650 (GRCm39) |
splice site |
probably null |
|
|
R8954:Cyp4a12a
|
UTSW |
4 |
115,185,935 (GRCm39) |
nonsense |
probably null |
|
|
R9031:Cyp4a12a
|
UTSW |
4 |
115,189,199 (GRCm39) |
makesense |
probably null |
|
|
R9356:Cyp4a12a
|
UTSW |
4 |
115,185,915 (GRCm39) |
missense |
probably benign |
|
|
R9674:Cyp4a12a
|
UTSW |
4 |
115,186,156 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0024:Cyp4a12a
|
UTSW |
4 |
115,185,009 (GRCm39) |
missense |
probably benign |
0.39 |
|
Z1176:Cyp4a12a
|
UTSW |
4 |
115,186,200 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTTGACTATATACATCCTGGC -3'
(R):5'- ACTAGCTGTGGTGTCATGGC -3'
Sequencing Primer
(F):5'- ATACATCCTGGCTTCTAGTAGGAG -3'
(R):5'- TTCAGCACGAAGGTCCTTATCAG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation