Incidental Mutation 'R4289:Cyp3a57'
| ID |
322328 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp3a57
|
| Ensembl Gene |
ENSMUSG00000070419 |
| Gene Name |
cytochrome P450, family 3, subfamily a, polypeptide 57 |
| Synonyms |
EG622127 |
| MMRRC Submission |
041654-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R4289 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
145282089-145327736 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 145286207 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 48
(G48S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133600
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079268]
[ENSMUST00000174696]
|
| AlphaFold |
D3YYZ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079268
AA Change: G48S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078251
Gene: ENSMUSG00000070419
AA Change: G48S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
38 |
493 |
6.5e-131 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174696
AA Change: G48S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133600
Gene: ENSMUSG00000070419
AA Change: G48S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
38 |
147 |
1.8e-21 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6a |
C |
T |
3: 32,766,263 (GRCm39) |
T39M |
possibly damaging |
Het |
| Arhgdib |
T |
C |
6: 136,901,156 (GRCm39) |
N191S |
probably benign |
Het |
| Arhgef39 |
A |
G |
4: 43,497,353 (GRCm39) |
|
probably benign |
Het |
| Baz1a |
G |
A |
12: 54,947,233 (GRCm39) |
R1139C |
probably damaging |
Het |
| Cdhr5 |
A |
T |
7: 140,852,752 (GRCm39) |
I78N |
probably damaging |
Het |
| Cfap97 |
T |
A |
8: 46,645,698 (GRCm39) |
N525K |
probably benign |
Het |
| Cntn2 |
T |
A |
1: 132,455,481 (GRCm39) |
Y252F |
probably benign |
Het |
| Cyp4v3 |
A |
C |
8: 45,781,260 (GRCm39) |
F73V |
possibly damaging |
Het |
| Ear10 |
T |
C |
14: 44,160,404 (GRCm39) |
D141G |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,168,411 (GRCm39) |
I2309V |
probably damaging |
Het |
| Fcrl5 |
A |
G |
3: 87,349,531 (GRCm39) |
D102G |
probably benign |
Het |
| Fdxacb1 |
A |
T |
9: 50,683,879 (GRCm39) |
Q614L |
probably damaging |
Het |
| Gm10267 |
T |
C |
18: 44,290,331 (GRCm39) |
T59A |
probably damaging |
Het |
| Gm5581 |
C |
T |
6: 131,144,519 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5592 |
G |
T |
7: 40,808,336 (GRCm39) |
|
probably benign |
Het |
| Gtf2a1l |
A |
G |
17: 89,001,884 (GRCm39) |
T200A |
probably damaging |
Het |
| Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
| Ift122 |
T |
C |
6: 115,900,852 (GRCm39) |
C1057R |
probably damaging |
Het |
| Kirrel3 |
A |
T |
9: 34,934,769 (GRCm39) |
N73I |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,490,798 (GRCm39) |
I433M |
probably benign |
Het |
| Mks1 |
T |
C |
11: 87,747,530 (GRCm39) |
|
probably benign |
Het |
| Mmp14 |
A |
T |
14: 54,673,665 (GRCm39) |
K110* |
probably null |
Het |
| Mms19 |
A |
G |
19: 41,933,992 (GRCm39) |
L938P |
probably damaging |
Het |
| Mrpl36 |
A |
T |
13: 73,479,777 (GRCm39) |
|
probably null |
Het |
| Mypn |
T |
C |
10: 62,966,961 (GRCm39) |
E905G |
probably damaging |
Het |
| Ncam1 |
G |
T |
9: 49,468,472 (GRCm39) |
T329N |
probably damaging |
Het |
| Nfkbie |
T |
C |
17: 45,869,516 (GRCm39) |
L157P |
probably damaging |
Het |
| Or14c45 |
T |
A |
7: 86,176,262 (GRCm39) |
I99N |
probably damaging |
Het |
| Or4f47 |
T |
A |
2: 111,972,319 (GRCm39) |
S10T |
probably benign |
Het |
| Pappa |
C |
T |
4: 65,074,100 (GRCm39) |
A218V |
probably benign |
Het |
| Plekhg5 |
T |
C |
4: 152,196,884 (GRCm39) |
Y737H |
probably benign |
Het |
| Plod2 |
G |
A |
9: 92,485,041 (GRCm39) |
R514Q |
possibly damaging |
Het |
| Plxnb1 |
C |
T |
9: 108,943,420 (GRCm39) |
R1888W |
probably damaging |
Het |
| Prss45 |
A |
G |
9: 110,669,997 (GRCm39) |
T269A |
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,681,151 (GRCm39) |
T784A |
probably damaging |
Het |
| Pycr3 |
T |
C |
15: 75,790,655 (GRCm39) |
N68S |
probably benign |
Het |
| Rbis |
T |
C |
3: 14,674,714 (GRCm39) |
M1V |
probably null |
Het |
| Rdh14 |
A |
T |
12: 10,444,949 (GRCm39) |
N267Y |
probably benign |
Het |
| Rph3a |
G |
A |
5: 121,111,368 (GRCm39) |
R71C |
probably damaging |
Het |
| Sall2 |
C |
A |
14: 52,551,260 (GRCm39) |
R643L |
probably damaging |
Het |
| Spata13 |
T |
A |
14: 60,928,523 (GRCm39) |
V27E |
probably damaging |
Het |
| Tbc1d1 |
T |
A |
5: 64,417,771 (GRCm39) |
S312T |
probably damaging |
Het |
| Tcp11l2 |
T |
C |
10: 84,440,937 (GRCm39) |
|
probably null |
Het |
| Trdn |
C |
T |
10: 33,340,578 (GRCm39) |
S604L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,640,742 (GRCm39) |
T13669A |
probably benign |
Het |
| Tyw3 |
A |
T |
3: 154,302,645 (GRCm39) |
F30I |
probably damaging |
Het |
| Vmn1r227 |
G |
T |
17: 20,956,092 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r74 |
C |
T |
7: 85,606,562 (GRCm39) |
M261I |
probably benign |
Het |
| Zfp217 |
C |
T |
2: 169,956,707 (GRCm39) |
G764S |
probably benign |
Het |
| Zfp267 |
A |
G |
3: 36,213,747 (GRCm39) |
N27S |
possibly damaging |
Het |
| Zfp748 |
T |
A |
13: 67,689,202 (GRCm39) |
H686L |
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 |
|
|
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 |
|
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'- GAAGTACAGCAGCTTCCACTATC -3'
(R):5'- TTGCCACTATAAGAAATGAAAGAGC -3'
Sequencing Primer
(F):5'- CTATCCCATCATTTTGACATTGTAGG -3'
(R):5'- AATTCTAGCACTCTGGAGGC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation