Incidental Mutation 'R5226:Cyp3a57'
| ID |
402610 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp3a57
|
| Ensembl Gene |
ENSMUSG00000070419 |
| Gene Name |
cytochrome P450, family 3, subfamily a, polypeptide 57 |
| Synonyms |
EG622127 |
| MMRRC Submission |
042799-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R5226 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
145282089-145327736 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 145302507 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 101
(V101A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078251
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079268]
[ENSMUST00000174696]
|
| AlphaFold |
D3YYZ0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079268
AA Change: V101A
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000078251
Gene: ENSMUSG00000070419
AA Change: V101A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
38 |
493 |
6.5e-131 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174696
AA Change: V101A
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000133600
Gene: ENSMUSG00000070419
AA Change: V101A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
38 |
147 |
1.8e-21 |
PFAM |
|
| Meta Mutation Damage Score |
0.2436 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (66/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
C |
9: 124,056,706 (GRCm39) |
K98E |
possibly damaging |
Het |
| 4933414I15Rik |
A |
T |
11: 50,833,416 (GRCm39) |
M62K |
unknown |
Het |
| Akr1d1 |
T |
A |
6: 37,512,949 (GRCm39) |
|
probably null |
Het |
| Ankrd63 |
T |
C |
2: 118,533,736 (GRCm39) |
|
probably benign |
Het |
| Atad5 |
T |
C |
11: 79,985,888 (GRCm39) |
V325A |
probably damaging |
Het |
| Atp13a5 |
G |
T |
16: 29,067,031 (GRCm39) |
N1025K |
probably damaging |
Het |
| Atrnl1 |
G |
T |
19: 57,638,767 (GRCm39) |
V302L |
probably benign |
Het |
| Bend7 |
C |
A |
2: 4,757,789 (GRCm39) |
S277* |
probably null |
Het |
| Btnl7-ps |
A |
T |
17: 34,752,261 (GRCm39) |
|
noncoding transcript |
Het |
| Cbx4 |
T |
C |
11: 118,972,754 (GRCm39) |
Y207C |
probably damaging |
Het |
| Ctla2b |
C |
T |
13: 61,044,146 (GRCm39) |
W63* |
probably null |
Het |
| Cux1 |
T |
C |
5: 136,399,027 (GRCm39) |
T170A |
probably benign |
Het |
| Dao |
A |
T |
5: 114,159,094 (GRCm39) |
T267S |
probably benign |
Het |
| Dsp |
A |
G |
13: 38,370,746 (GRCm39) |
D883G |
probably damaging |
Het |
| Dynlt4 |
A |
G |
4: 116,985,290 (GRCm39) |
T38A |
possibly damaging |
Het |
| Eif4g3 |
C |
A |
4: 137,824,105 (GRCm39) |
P36T |
possibly damaging |
Het |
| Elf3 |
G |
A |
1: 135,184,977 (GRCm39) |
L70F |
probably benign |
Het |
| Epb41l4a |
C |
T |
18: 33,943,366 (GRCm39) |
D510N |
probably damaging |
Het |
| Gcn1 |
T |
C |
5: 115,726,126 (GRCm39) |
S594P |
probably benign |
Het |
| Gm10722 |
T |
C |
9: 3,000,937 (GRCm39) |
C6R |
probably benign |
Het |
| Gpr132 |
T |
C |
12: 112,815,768 (GRCm39) |
T353A |
probably benign |
Het |
| Kntc1 |
A |
G |
5: 123,932,235 (GRCm39) |
D1343G |
probably benign |
Het |
| L3mbtl4 |
T |
A |
17: 69,071,717 (GRCm39) |
|
probably null |
Het |
| Lrit2 |
A |
G |
14: 36,794,310 (GRCm39) |
E458G |
probably damaging |
Het |
| Man1c1 |
A |
T |
4: 134,305,680 (GRCm39) |
I348N |
probably damaging |
Het |
| Map4k2 |
A |
G |
19: 6,396,534 (GRCm39) |
|
probably benign |
Het |
| Nt5c2 |
A |
C |
19: 46,887,068 (GRCm39) |
Y203D |
probably damaging |
Het |
| Oxgr1 |
A |
G |
14: 120,259,665 (GRCm39) |
S181P |
probably damaging |
Het |
| Parn |
A |
G |
16: 13,443,416 (GRCm39) |
C400R |
probably benign |
Het |
| Pcdhgb7 |
T |
C |
18: 37,885,577 (GRCm39) |
V249A |
probably benign |
Het |
| Pdzrn3 |
C |
T |
6: 101,130,272 (GRCm39) |
D515N |
probably damaging |
Het |
| Plcg2 |
A |
T |
8: 118,304,613 (GRCm39) |
I273F |
possibly damaging |
Het |
| Plin1 |
A |
G |
7: 79,372,447 (GRCm39) |
V64A |
probably damaging |
Het |
| Ppfia4 |
C |
A |
1: 134,232,024 (GRCm39) |
|
probably null |
Het |
| Prkg2 |
A |
C |
5: 99,124,321 (GRCm39) |
D376E |
possibly damaging |
Het |
| Ptgir |
T |
A |
7: 16,642,645 (GRCm39) |
I82N |
probably damaging |
Het |
| Pum2 |
C |
T |
12: 8,763,458 (GRCm39) |
P205L |
possibly damaging |
Het |
| Rab26 |
T |
A |
17: 24,753,107 (GRCm39) |
|
probably benign |
Het |
| Recql4 |
T |
C |
15: 76,594,329 (GRCm39) |
E63G |
probably benign |
Het |
| Rora |
T |
A |
9: 69,271,423 (GRCm39) |
|
probably benign |
Het |
| Rp1 |
A |
C |
1: 4,418,256 (GRCm39) |
M952R |
probably benign |
Het |
| Rpap3 |
T |
A |
15: 97,601,104 (GRCm39) |
R44S |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slc12a2 |
C |
A |
18: 58,012,092 (GRCm39) |
P72T |
probably damaging |
Het |
| Slc1a3 |
C |
T |
15: 8,671,709 (GRCm39) |
V416M |
probably damaging |
Het |
| Slfn4 |
A |
T |
11: 83,078,375 (GRCm39) |
M388L |
possibly damaging |
Het |
| Snrnp48 |
G |
A |
13: 38,389,093 (GRCm39) |
A49T |
probably benign |
Het |
| Tlx2 |
C |
T |
6: 83,045,911 (GRCm39) |
G228D |
possibly damaging |
Het |
| Tmem132a |
A |
G |
19: 10,844,508 (GRCm39) |
V30A |
possibly damaging |
Het |
| Tnfrsf23 |
C |
A |
7: 143,239,522 (GRCm39) |
L24F |
possibly damaging |
Het |
| Ubr2 |
A |
T |
17: 47,294,196 (GRCm39) |
N312K |
probably benign |
Het |
| Vmn1r115 |
C |
T |
7: 20,578,169 (GRCm39) |
V248I |
probably damaging |
Het |
| Vmn2r80 |
A |
G |
10: 79,029,874 (GRCm39) |
T567A |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,852,835 (GRCm39) |
T2372A |
probably benign |
Het |
| Wnt10b |
G |
T |
15: 98,674,495 (GRCm39) |
H81N |
probably damaging |
Het |
| Zfp948 |
A |
G |
17: 21,808,505 (GRCm39) |
T566A |
probably benign |
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 |
|
R4463:Cyp3a57
|
UTSW |
5 |
145,318,084 (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 |
|
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'- ACAACTGAGGATATGTACTGTGCTTC -3'
(R):5'- GAATGGCGGTGGCTCTTTAC -3'
Sequencing Primer
(F):5'- CTTCAGGGCTTGAGATTGAAATTTTG -3'
(R):5'- GCTGATCTTGATGTAGAACCCTCAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation