Incidental Mutation 'R8705:Cyp2c70'
| ID |
669253 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2c70
|
| Ensembl Gene |
ENSMUSG00000060613 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 70 |
| Synonyms |
|
| MMRRC Submission |
068559-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.157)
|
| Stock # |
R8705 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
40141805-40175730 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 40168948 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 113
(V113A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060584
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051846]
[ENSMUST00000165102]
[ENSMUST00000171604]
|
| AlphaFold |
Q91W64 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051846
AA Change: V113A
PolyPhen 2
Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000060584
Gene: ENSMUSG00000060613
AA Change: V113A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
30 |
486 |
2.1e-158 |
PFAM |
|
| 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 |
unknown
Transcript: ENSMUST00000171604
AA Change: S59P
|
| SMART Domains |
Protein: ENSMUSP00000129063
Gene: ENSMUSG00000060613
AA Change: S59P
| 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 |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c6 |
G |
T |
13: 4,484,447 (GRCm39) |
G20W |
probably damaging |
Het |
| Ces1c |
A |
G |
8: 93,857,518 (GRCm39) |
L21P |
probably benign |
Het |
| Col11a2 |
G |
T |
17: 34,268,769 (GRCm39) |
G394V |
unknown |
Het |
| Foxp1 |
C |
G |
6: 98,993,507 (GRCm39) |
Q132H |
unknown |
Het |
| Fras1 |
A |
T |
5: 96,839,260 (GRCm39) |
D1593V |
probably benign |
Het |
| Frzb |
G |
A |
2: 80,277,241 (GRCm39) |
|
probably benign |
Het |
| Gas6 |
T |
C |
8: 13,525,156 (GRCm39) |
D276G |
probably damaging |
Het |
| Gdf7 |
C |
T |
12: 8,348,167 (GRCm39) |
E377K |
probably damaging |
Het |
| Ggnbp2 |
A |
G |
11: 84,753,132 (GRCm39) |
F36L |
possibly damaging |
Het |
| Gm40460 |
A |
T |
7: 141,794,734 (GRCm39) |
C28S |
unknown |
Het |
| Hnrnpd |
A |
G |
5: 100,111,588 (GRCm39) |
|
probably benign |
Het |
| Hsd17b11 |
G |
A |
5: 104,140,703 (GRCm39) |
L265F |
probably benign |
Het |
| Hyal6 |
G |
A |
6: 24,734,673 (GRCm39) |
R202H |
probably benign |
Het |
| Igkv5-43 |
A |
G |
6: 69,800,592 (GRCm39) |
S32P |
probably benign |
Het |
| Kank1 |
A |
G |
19: 25,388,907 (GRCm39) |
Y860C |
probably damaging |
Het |
| Krt79 |
G |
A |
15: 101,846,441 (GRCm39) |
T169M |
probably damaging |
Het |
| Lama5 |
C |
T |
2: 179,820,354 (GRCm39) |
C3296Y |
probably damaging |
Het |
| Ly75 |
A |
T |
2: 60,148,729 (GRCm39) |
I1200K |
probably damaging |
Het |
| Myo1b |
A |
T |
1: 51,902,495 (GRCm39) |
Y78* |
probably null |
Het |
| Napb |
A |
G |
2: 148,542,396 (GRCm39) |
V188A |
probably benign |
Het |
| Neb |
T |
C |
2: 52,148,795 (GRCm39) |
Y2584C |
probably damaging |
Het |
| Or52e8 |
T |
C |
7: 104,624,446 (GRCm39) |
I253V |
possibly damaging |
Het |
| P4htm |
G |
A |
9: 108,457,240 (GRCm39) |
A381V |
probably damaging |
Het |
| Pcdha8 |
T |
A |
18: 37,126,906 (GRCm39) |
F463I |
probably damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Phip |
T |
C |
9: 82,775,612 (GRCm39) |
T1030A |
probably damaging |
Het |
| Phrf1 |
T |
A |
7: 140,838,651 (GRCm39) |
F615L |
unknown |
Het |
| Prrc2a |
A |
G |
17: 35,372,542 (GRCm39) |
S1700P |
possibly damaging |
Het |
| Qrich2 |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
11: 116,348,367 (GRCm39) |
|
probably benign |
Het |
| Rab9 |
C |
T |
X: 165,240,754 (GRCm39) |
D186N |
probably benign |
Het |
| Sf3b5 |
G |
T |
10: 12,884,554 (GRCm39) |
R63L |
probably damaging |
Het |
| Sh3rf1 |
T |
C |
8: 61,802,591 (GRCm39) |
L308P |
probably damaging |
Het |
| Slc7a2 |
A |
T |
8: 41,368,032 (GRCm39) |
T599S |
probably damaging |
Het |
| Sox5 |
T |
C |
6: 143,987,012 (GRCm39) |
N184S |
possibly damaging |
Het |
| Traf3 |
A |
G |
12: 111,208,938 (GRCm39) |
E119G |
possibly damaging |
Het |
| Trim24 |
T |
C |
6: 37,880,588 (GRCm39) |
|
probably benign |
Het |
| Ubxn11 |
A |
T |
4: 133,853,551 (GRCm39) |
I368F |
probably damaging |
Het |
| Vmn2r27 |
C |
T |
6: 124,207,188 (GRCm39) |
G151D |
probably damaging |
Het |
| Wfdc16 |
T |
A |
2: 164,480,395 (GRCm39) |
R33S |
possibly damaging |
Het |
| Zfp654 |
A |
G |
16: 64,605,433 (GRCm39) |
V382A |
possibly damaging |
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 |
|
R3425:Cyp2c70
|
UTSW |
19 |
40,172,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- TCTGACTCCATCTTTATAAAGCGC -3'
(R):5'- AGAGCCCTGGTGGTGAAATAC -3'
Sequencing Primer
(F):5'- GGATTTCCTCCTGAATTCG -3'
(R):5'- CCCTGGTGGTGAAATACTAGATTGC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation