Incidental Mutation 'R4463:Cyp3a57'
| ID |
330220 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp3a57
|
| Ensembl Gene |
ENSMUSG00000070419 |
| Gene Name |
cytochrome P450, family 3, subfamily a, polypeptide 57 |
| Synonyms |
EG622127 |
| MMRRC Submission |
041721-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R4463 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
145282089-145327736 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 145318084 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 355
(Y355F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078251
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079268]
[ENSMUST00000174696]
|
| AlphaFold |
D3YYZ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079268
AA Change: Y355F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078251
Gene: ENSMUSG00000070419
AA Change: Y355F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
38 |
493 |
6.5e-131 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174696
|
| SMART Domains |
Protein: ENSMUSP00000133600
Gene: ENSMUSG00000070419
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
38 |
147 |
1.8e-21 |
PFAM |
|
| Meta Mutation Damage Score |
0.2476 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (57/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
T |
C |
5: 8,769,981 (GRCm39) |
|
probably benign |
Het |
| Abcc8 |
T |
C |
7: 45,756,005 (GRCm39) |
|
probably null |
Het |
| Alox12e |
A |
G |
11: 70,209,082 (GRCm39) |
L388P |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,382,748 (GRCm39) |
S27T |
possibly damaging |
Het |
| Capn2 |
G |
A |
1: 182,307,329 (GRCm39) |
|
probably benign |
Het |
| Catspere1 |
G |
A |
1: 177,765,279 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc158 |
T |
C |
5: 92,782,159 (GRCm39) |
D820G |
probably null |
Het |
| Cdkn2d |
C |
G |
9: 21,202,185 (GRCm39) |
V21L |
probably benign |
Het |
| Chd9 |
T |
A |
8: 91,705,627 (GRCm39) |
D761E |
probably benign |
Het |
| Chst8 |
T |
C |
7: 34,374,645 (GRCm39) |
D398G |
probably damaging |
Het |
| Clns1a |
T |
C |
7: 97,370,156 (GRCm39) |
|
probably benign |
Het |
| Cyp4f37 |
A |
G |
17: 32,846,710 (GRCm39) |
|
probably null |
Het |
| Eif1ad11 |
A |
G |
12: 87,994,129 (GRCm39) |
D119G |
probably benign |
Het |
| Eipr1 |
G |
A |
12: 28,909,338 (GRCm39) |
A202T |
probably damaging |
Het |
| Fam83a |
T |
C |
15: 57,858,655 (GRCm39) |
S232P |
probably damaging |
Het |
| Fastkd2 |
C |
T |
1: 63,774,968 (GRCm39) |
|
probably benign |
Het |
| Fcgbpl1 |
A |
G |
7: 27,850,144 (GRCm39) |
M1197V |
probably benign |
Het |
| Fgfr4 |
G |
A |
13: 55,304,280 (GRCm39) |
V107I |
probably benign |
Het |
| Gatad1 |
G |
T |
5: 3,697,404 (GRCm39) |
S72R |
probably benign |
Het |
| Gli2 |
T |
C |
1: 118,763,738 (GRCm39) |
D1471G |
probably damaging |
Het |
| Gm1330 |
A |
T |
2: 148,845,064 (GRCm39) |
Y36* |
probably null |
Het |
| Gm29125 |
T |
C |
1: 80,360,903 (GRCm39) |
|
noncoding transcript |
Het |
| Idi1 |
G |
A |
13: 8,937,508 (GRCm39) |
|
probably benign |
Het |
| Itgbl1 |
C |
T |
14: 124,078,080 (GRCm39) |
T190I |
probably damaging |
Het |
| Kbtbd3 |
G |
A |
9: 4,331,257 (GRCm39) |
G544R |
probably damaging |
Het |
| Kifc3 |
T |
C |
8: 95,828,744 (GRCm39) |
T638A |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,068,695 (GRCm39) |
C798Y |
probably damaging |
Het |
| Larp6 |
C |
A |
9: 60,644,279 (GRCm39) |
H140N |
probably damaging |
Het |
| Mctp1 |
A |
T |
13: 76,860,206 (GRCm39) |
D108V |
probably damaging |
Het |
| Myzap |
G |
T |
9: 71,462,933 (GRCm39) |
D204E |
probably benign |
Het |
| Neb |
GCC |
GC |
2: 52,169,734 (GRCm39) |
|
probably null |
Het |
| Or13p8 |
T |
C |
4: 118,583,855 (GRCm39) |
V137A |
probably benign |
Het |
| Or1j20 |
T |
C |
2: 36,760,205 (GRCm39) |
I209T |
probably benign |
Het |
| Or4c102 |
T |
C |
2: 88,422,976 (GRCm39) |
V276A |
possibly damaging |
Het |
| Phka1 |
A |
G |
X: 101,588,990 (GRCm39) |
V818A |
probably benign |
Het |
| Plek |
T |
C |
11: 16,931,873 (GRCm39) |
Y326C |
possibly damaging |
Het |
| Pp2d1 |
A |
G |
17: 53,822,886 (GRCm39) |
I60T |
probably benign |
Het |
| Prmt3 |
T |
C |
7: 49,467,837 (GRCm39) |
Y348H |
probably damaging |
Het |
| Psg27 |
G |
T |
7: 18,291,010 (GRCm39) |
Q398K |
possibly damaging |
Het |
| Raver1 |
T |
C |
9: 21,003,123 (GRCm39) |
T51A |
probably benign |
Het |
| Ripk2 |
T |
C |
4: 16,151,968 (GRCm39) |
N197S |
possibly damaging |
Het |
| Sectm1a |
T |
A |
11: 120,960,477 (GRCm39) |
I113L |
probably benign |
Het |
| Slc2a4 |
G |
A |
11: 69,834,148 (GRCm39) |
|
probably benign |
Het |
| Snph |
A |
T |
2: 151,436,035 (GRCm39) |
S229T |
probably damaging |
Het |
| Stpg4 |
A |
G |
17: 87,697,101 (GRCm39) |
F183L |
probably benign |
Het |
| Tango6 |
A |
T |
8: 107,415,706 (GRCm39) |
T176S |
probably benign |
Het |
| Vmn1r196 |
A |
G |
13: 22,477,853 (GRCm39) |
Q164R |
probably benign |
Het |
| Vstm4 |
T |
A |
14: 32,639,833 (GRCm39) |
L236Q |
probably damaging |
Het |
| Xylb |
A |
G |
9: 119,215,433 (GRCm39) |
D462G |
probably benign |
Het |
| Zc2hc1c |
A |
G |
12: 85,337,071 (GRCm39) |
R243G |
probably damaging |
Het |
|
| Other mutations in Cyp3a57 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00334:Cyp3a57
|
APN |
5 |
145,307,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00656:Cyp3a57
|
APN |
5 |
145,309,359 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL01368:Cyp3a57
|
APN |
5 |
145,305,878 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01602:Cyp3a57
|
APN |
5 |
145,323,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01605:Cyp3a57
|
APN |
5 |
145,323,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01924:Cyp3a57
|
APN |
5 |
145,309,439 (GRCm39) |
missense |
probably benign |
|
|
IGL02191:Cyp3a57
|
APN |
5 |
145,302,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02213:Cyp3a57
|
APN |
5 |
145,318,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02217:Cyp3a57
|
APN |
5 |
145,305,953 (GRCm39) |
splice site |
probably null |
|
|
R0141:Cyp3a57
|
UTSW |
5 |
145,298,912 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0720:Cyp3a57
|
UTSW |
5 |
145,327,213 (GRCm39) |
splice site |
probably benign |
|
|
R0765:Cyp3a57
|
UTSW |
5 |
145,327,220 (GRCm39) |
splice site |
probably benign |
|
|
R0976:Cyp3a57
|
UTSW |
5 |
145,327,278 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1494:Cyp3a57
|
UTSW |
5 |
145,318,077 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1624:Cyp3a57
|
UTSW |
5 |
145,327,225 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1732:Cyp3a57
|
UTSW |
5 |
145,302,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1791:Cyp3a57
|
UTSW |
5 |
145,307,820 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1839:Cyp3a57
|
UTSW |
5 |
145,318,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1858:Cyp3a57
|
UTSW |
5 |
145,318,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2095:Cyp3a57
|
UTSW |
5 |
145,305,944 (GRCm39) |
nonsense |
probably null |
|
|
R2305:Cyp3a57
|
UTSW |
5 |
145,318,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3954:Cyp3a57
|
UTSW |
5 |
145,286,135 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4289:Cyp3a57
|
UTSW |
5 |
145,286,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4579:Cyp3a57
|
UTSW |
5 |
145,311,074 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4598:Cyp3a57
|
UTSW |
5 |
145,327,227 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4678:Cyp3a57
|
UTSW |
5 |
145,307,538 (GRCm39) |
splice site |
probably null |
|
|
R4853:Cyp3a57
|
UTSW |
5 |
145,302,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4954:Cyp3a57
|
UTSW |
5 |
145,307,765 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4977:Cyp3a57
|
UTSW |
5 |
145,286,236 (GRCm39) |
splice site |
probably null |
|
|
R5162:Cyp3a57
|
UTSW |
5 |
145,305,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5226:Cyp3a57
|
UTSW |
5 |
145,302,507 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5470:Cyp3a57
|
UTSW |
5 |
145,309,429 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5568:Cyp3a57
|
UTSW |
5 |
145,307,456 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5652:Cyp3a57
|
UTSW |
5 |
145,286,135 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5872:Cyp3a57
|
UTSW |
5 |
145,307,867 (GRCm39) |
nonsense |
probably null |
|
|
R6855:Cyp3a57
|
UTSW |
5 |
145,309,376 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6861:Cyp3a57
|
UTSW |
5 |
145,307,773 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6893:Cyp3a57
|
UTSW |
5 |
145,323,784 (GRCm39) |
nonsense |
probably null |
|
|
R7081:Cyp3a57
|
UTSW |
5 |
145,318,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7305:Cyp3a57
|
UTSW |
5 |
145,307,795 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8987:Cyp3a57
|
UTSW |
5 |
145,311,040 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8987:Cyp3a57
|
UTSW |
5 |
145,311,039 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9317:Cyp3a57
|
UTSW |
5 |
145,309,421 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9368:Cyp3a57
|
UTSW |
5 |
145,318,159 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9505:Cyp3a57
|
UTSW |
5 |
145,286,139 (GRCm39) |
missense |
probably benign |
0.40 |
|
Z1177:Cyp3a57
|
UTSW |
5 |
145,302,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATTATGGTACTGAGCAGGGG -3'
(R):5'- AGAAGTCTTCAGGCTCTGGC -3'
Sequencing Primer
(F):5'- AGCTCTAATAGTTATACCTCACATCC -3'
(R):5'- TCTGGCCAGTACTCGGG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation