Incidental Mutation 'R3425:Cyp2c70'
| ID |
271747 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2c70
|
| Ensembl Gene |
ENSMUSG00000060613 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 70 |
| Synonyms |
|
| MMRRC Submission |
040643-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
R3425 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
40141805-40175730 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 40172468 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 58
(A58E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060584
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051846]
[ENSMUST00000165102]
[ENSMUST00000171604]
|
| AlphaFold |
Q91W64 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051846
AA Change: A58E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000060584
Gene: ENSMUSG00000060613
AA Change: A58E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
30 |
486 |
2.1e-158 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164351
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165102
|
| SMART Domains |
Protein: ENSMUSP00000128691
Gene: ENSMUSG00000060613
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4GQS|D
|
25 |
54 |
4e-12 |
PDB |
|
SCOP:d1cpt__
|
26 |
54 |
7e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171604
|
| SMART Domains |
Protein: ENSMUSP00000129063
Gene: ENSMUSG00000060613
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4GQS|D
|
25 |
50 |
4e-10 |
PDB |
|
SCOP:d1cpt__
|
26 |
54 |
2e-7 |
SMART |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
97% (30/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap5m1 |
A |
G |
14: 49,311,140 (GRCm39) |
E70G |
probably damaging |
Het |
| Atp8b3 |
T |
C |
10: 80,372,181 (GRCm39) |
E16G |
probably benign |
Het |
| Csmd3 |
A |
T |
15: 47,710,648 (GRCm39) |
D1646E |
probably damaging |
Het |
| Ddx11 |
T |
C |
17: 66,446,434 (GRCm39) |
I415T |
possibly damaging |
Het |
| Gm8674 |
T |
A |
13: 50,055,792 (GRCm39) |
|
noncoding transcript |
Het |
| H2-T22 |
A |
C |
17: 36,352,472 (GRCm39) |
L151R |
probably damaging |
Het |
| Hmgcs1 |
C |
A |
13: 120,166,668 (GRCm39) |
P420Q |
probably damaging |
Het |
| Il16 |
T |
C |
7: 83,293,248 (GRCm39) |
E575G |
probably damaging |
Het |
| Ism2 |
T |
C |
12: 87,333,871 (GRCm39) |
N58S |
probably benign |
Het |
| Kat7 |
T |
C |
11: 95,193,991 (GRCm39) |
E103G |
probably damaging |
Het |
| Klf15 |
T |
C |
6: 90,443,802 (GRCm39) |
S126P |
probably benign |
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 |
| Myo1d |
T |
C |
11: 80,492,464 (GRCm39) |
T764A |
probably benign |
Het |
| Mypn |
T |
C |
10: 62,954,196 (GRCm39) |
|
probably benign |
Het |
| Or5b101 |
G |
C |
19: 13,005,411 (GRCm39) |
A94G |
probably benign |
Het |
| Or8h8 |
C |
T |
2: 86,752,950 (GRCm39) |
E309K |
probably benign |
Het |
| Ptpn4 |
T |
C |
1: 119,635,560 (GRCm39) |
D381G |
probably benign |
Het |
| Ros1 |
C |
A |
10: 52,004,512 (GRCm39) |
|
probably null |
Het |
| Scel |
T |
G |
14: 103,845,542 (GRCm39) |
V559G |
possibly damaging |
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 |
| Slco4c1 |
A |
T |
1: 96,768,976 (GRCm39) |
S295R |
probably benign |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Tmprss15 |
A |
T |
16: 78,800,321 (GRCm39) |
N587K |
possibly damaging |
Het |
| Upp1 |
T |
C |
11: 9,075,700 (GRCm39) |
|
probably null |
Het |
| Zp1 |
G |
A |
19: 10,895,956 (GRCm39) |
R227W |
probably benign |
Het |
|
| Other mutations in Cyp2c70 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00309:Cyp2c70
|
APN |
19 |
40,145,270 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00335:Cyp2c70
|
APN |
19 |
40,156,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01966:Cyp2c70
|
APN |
19 |
40,142,016 (GRCm39) |
utr 3 prime |
probably benign |
|
|
PIT4468001:Cyp2c70
|
UTSW |
19 |
40,153,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0012:Cyp2c70
|
UTSW |
19 |
40,175,687 (GRCm39) |
missense |
probably null |
1.00 |
|
R0044:Cyp2c70
|
UTSW |
19 |
40,153,815 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0309:Cyp2c70
|
UTSW |
19 |
40,149,115 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1572:Cyp2c70
|
UTSW |
19 |
40,172,426 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1650:Cyp2c70
|
UTSW |
19 |
40,153,921 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1671:Cyp2c70
|
UTSW |
19 |
40,142,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2016:Cyp2c70
|
UTSW |
19 |
40,152,856 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2163:Cyp2c70
|
UTSW |
19 |
40,149,163 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4299:Cyp2c70
|
UTSW |
19 |
40,172,372 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5037:Cyp2c70
|
UTSW |
19 |
40,172,441 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5103:Cyp2c70
|
UTSW |
19 |
40,149,076 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6060:Cyp2c70
|
UTSW |
19 |
40,153,857 (GRCm39) |
nonsense |
probably null |
|
|
R6440:Cyp2c70
|
UTSW |
19 |
40,145,250 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6853:Cyp2c70
|
UTSW |
19 |
40,172,364 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6936:Cyp2c70
|
UTSW |
19 |
40,156,007 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7098:Cyp2c70
|
UTSW |
19 |
40,168,931 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8380:Cyp2c70
|
UTSW |
19 |
40,175,669 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8419:Cyp2c70
|
UTSW |
19 |
40,149,024 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R8555:Cyp2c70
|
UTSW |
19 |
40,172,345 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8678:Cyp2c70
|
UTSW |
19 |
40,156,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8705:Cyp2c70
|
UTSW |
19 |
40,168,948 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8968:Cyp2c70
|
UTSW |
19 |
40,142,059 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9225:Cyp2c70
|
UTSW |
19 |
40,168,912 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9468:Cyp2c70
|
UTSW |
19 |
40,168,889 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9655:Cyp2c70
|
UTSW |
19 |
40,149,121 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGGAGACGTACCTAAGCC -3'
(R):5'- CAGTGAATGGGTGAATATTAAAATGTC -3'
Sequencing Primer
(F):5'- AGACGTACCTAAGCCTTGGCTG -3'
(R):5'- GATATCAGGCTCCTGTCAGCAAG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation