Incidental Mutation 'R5410:Cyp2c68'
| ID |
426534 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2c68
|
| Ensembl Gene |
ENSMUSG00000074882 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 68 |
| Synonyms |
9030012A22Rik |
| MMRRC Submission |
042979-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5410 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
39677278-39729498 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 39687728 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 423
(D423G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097071
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099472]
|
| AlphaFold |
K7N6C2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099472
AA Change: D423G
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000097071
Gene: ENSMUSG00000074882
AA Change: D423G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:p450
|
30 |
487 |
2.1e-150 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam24 |
A |
G |
8: 41,134,103 (GRCm39) |
M524V |
probably benign |
Het |
| Adamts20 |
T |
A |
15: 94,179,838 (GRCm39) |
N1788I |
possibly damaging |
Het |
| Arfgef3 |
T |
G |
10: 18,486,985 (GRCm39) |
I1350L |
probably damaging |
Het |
| Arhgap17 |
A |
G |
7: 122,896,716 (GRCm39) |
|
probably null |
Het |
| Ascl5 |
A |
T |
1: 135,978,926 (GRCm39) |
I129F |
probably damaging |
Het |
| AU040320 |
A |
T |
4: 126,717,509 (GRCm39) |
H362L |
possibly damaging |
Het |
| Bpifb9a |
A |
T |
2: 154,112,155 (GRCm39) |
N564Y |
probably benign |
Het |
| Cdon |
G |
T |
9: 35,381,331 (GRCm39) |
D574Y |
probably damaging |
Het |
| Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
| Ces1e |
T |
A |
8: 93,937,070 (GRCm39) |
I334F |
possibly damaging |
Het |
| Clip2 |
G |
A |
5: 134,551,645 (GRCm39) |
T159M |
possibly damaging |
Het |
| Cntn3 |
T |
A |
6: 102,255,314 (GRCm39) |
T195S |
probably benign |
Het |
| Csmd2 |
C |
A |
4: 128,442,612 (GRCm39) |
H3221Q |
probably benign |
Het |
| Dennd3 |
C |
T |
15: 73,419,297 (GRCm39) |
T696M |
probably benign |
Het |
| Ep300 |
T |
C |
15: 81,533,055 (GRCm39) |
M1704T |
unknown |
Het |
| Exoc2 |
A |
G |
13: 31,048,839 (GRCm39) |
F738S |
probably damaging |
Het |
| Fis1 |
A |
G |
5: 136,994,420 (GRCm39) |
E36G |
probably damaging |
Het |
| Galnt1 |
A |
G |
18: 24,400,604 (GRCm39) |
I237V |
probably benign |
Het |
| Gspt1 |
A |
T |
16: 11,048,374 (GRCm39) |
I416N |
probably benign |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hykk |
G |
A |
9: 54,853,350 (GRCm39) |
C224Y |
probably damaging |
Het |
| Ifi211 |
T |
C |
1: 173,733,829 (GRCm39) |
T111A |
probably benign |
Het |
| Il17rd |
T |
C |
14: 26,817,868 (GRCm39) |
Y186H |
probably damaging |
Het |
| Klhl29 |
G |
T |
12: 5,141,366 (GRCm39) |
N539K |
probably benign |
Het |
| Lmbr1l |
T |
C |
15: 98,807,143 (GRCm39) |
T213A |
probably damaging |
Het |
| Madd |
C |
T |
2: 90,984,859 (GRCm39) |
R1318Q |
probably damaging |
Het |
| Mecom |
C |
A |
3: 30,051,870 (GRCm39) |
A182S |
probably benign |
Het |
| Or13c25 |
C |
A |
4: 52,910,991 (GRCm39) |
A268S |
probably benign |
Het |
| Or1e1 |
C |
T |
11: 73,244,632 (GRCm39) |
P18S |
probably benign |
Het |
| Or4f56 |
C |
T |
2: 111,703,637 (GRCm39) |
A188T |
probably damaging |
Het |
| Or52z1 |
A |
T |
7: 103,436,581 (GRCm39) |
V301E |
probably damaging |
Het |
| Otud4 |
T |
A |
8: 80,399,626 (GRCm39) |
M780K |
probably benign |
Het |
| Pdia5 |
A |
G |
16: 35,273,906 (GRCm39) |
V130A |
probably damaging |
Het |
| Phldb2 |
T |
A |
16: 45,645,975 (GRCm39) |
H202L |
possibly damaging |
Het |
| Ppig |
G |
A |
2: 69,566,241 (GRCm39) |
G136E |
probably null |
Het |
| Prr14l |
C |
A |
5: 32,985,121 (GRCm39) |
R1458L |
probably damaging |
Het |
| Ptpn3 |
T |
C |
4: 57,205,019 (GRCm39) |
Y714C |
probably damaging |
Het |
| Ptprr |
T |
C |
10: 116,024,235 (GRCm39) |
V182A |
possibly damaging |
Het |
| Rai14 |
A |
G |
15: 10,575,024 (GRCm39) |
Y645H |
probably damaging |
Het |
| Rasgrp3 |
T |
C |
17: 75,804,042 (GRCm39) |
I115T |
probably benign |
Het |
| Rc3h1 |
G |
T |
1: 160,792,533 (GRCm39) |
R990L |
possibly damaging |
Het |
| Rdh5 |
T |
A |
10: 128,754,160 (GRCm39) |
Q21L |
probably benign |
Het |
| Rfx8 |
A |
G |
1: 39,749,316 (GRCm39) |
|
probably null |
Het |
| Scap |
A |
G |
9: 110,203,250 (GRCm39) |
|
probably null |
Het |
| Shank1 |
T |
A |
7: 44,001,246 (GRCm39) |
S988R |
unknown |
Het |
| Slc16a14 |
T |
A |
1: 84,885,145 (GRCm39) |
I465F |
probably damaging |
Het |
| Slc41a2 |
A |
G |
10: 83,117,232 (GRCm39) |
|
probably null |
Het |
| Tab2 |
T |
C |
10: 7,795,585 (GRCm39) |
H225R |
possibly damaging |
Het |
| Tbx19 |
T |
A |
1: 164,987,941 (GRCm39) |
N64I |
probably damaging |
Het |
| Tmprss11f |
A |
T |
5: 86,677,965 (GRCm39) |
I268K |
probably damaging |
Het |
| Tox2 |
A |
G |
2: 163,162,293 (GRCm39) |
M388V |
probably benign |
Het |
| Trbv17 |
T |
C |
6: 41,140,472 (GRCm39) |
L109P |
probably damaging |
Het |
| Trim72 |
A |
G |
7: 127,609,095 (GRCm39) |
H299R |
probably damaging |
Het |
| Ulbp3 |
G |
A |
10: 3,076,473 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn1r63 |
C |
T |
7: 5,806,189 (GRCm39) |
V148I |
possibly damaging |
Het |
| Zfp938 |
A |
C |
10: 82,061,092 (GRCm39) |
H509Q |
possibly damaging |
Het |
| Zfyve16 |
A |
G |
13: 92,657,739 (GRCm39) |
V724A |
probably benign |
Het |
| Zscan10 |
T |
C |
17: 23,829,395 (GRCm39) |
F569L |
probably damaging |
Het |
|
| Other mutations in Cyp2c68 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00514:Cyp2c68
|
APN |
19 |
39,700,939 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00826:Cyp2c68
|
APN |
19 |
39,727,949 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01363:Cyp2c68
|
APN |
19 |
39,691,871 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01892:Cyp2c68
|
APN |
19 |
39,722,788 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02088:Cyp2c68
|
APN |
19 |
39,691,965 (GRCm39) |
splice site |
probably benign |
|
|
IGL02422:Cyp2c68
|
APN |
19 |
39,722,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03047:Cyp2c68
|
UTSW |
19 |
39,722,904 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0523:Cyp2c68
|
UTSW |
19 |
39,727,873 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0729:Cyp2c68
|
UTSW |
19 |
39,727,994 (GRCm39) |
splice site |
probably benign |
|
|
R0975:Cyp2c68
|
UTSW |
19 |
39,691,802 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1117:Cyp2c68
|
UTSW |
19 |
39,700,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1355:Cyp2c68
|
UTSW |
19 |
39,729,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1370:Cyp2c68
|
UTSW |
19 |
39,729,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1436:Cyp2c68
|
UTSW |
19 |
39,729,484 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R1564:Cyp2c68
|
UTSW |
19 |
39,724,024 (GRCm39) |
nonsense |
probably null |
|
|
R1730:Cyp2c68
|
UTSW |
19 |
39,687,719 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1865:Cyp2c68
|
UTSW |
19 |
39,722,733 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1905:Cyp2c68
|
UTSW |
19 |
39,724,026 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1951:Cyp2c68
|
UTSW |
19 |
39,700,972 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1952:Cyp2c68
|
UTSW |
19 |
39,700,972 (GRCm39) |
missense |
probably benign |
0.22 |
|
R2224:Cyp2c68
|
UTSW |
19 |
39,724,026 (GRCm39) |
missense |
probably benign |
0.34 |
|
R2230:Cyp2c68
|
UTSW |
19 |
39,687,804 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2231:Cyp2c68
|
UTSW |
19 |
39,687,804 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2866:Cyp2c68
|
UTSW |
19 |
39,677,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3104:Cyp2c68
|
UTSW |
19 |
39,722,757 (GRCm39) |
missense |
probably benign |
|
|
R4409:Cyp2c68
|
UTSW |
19 |
39,727,896 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4575:Cyp2c68
|
UTSW |
19 |
39,722,805 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4620:Cyp2c68
|
UTSW |
19 |
39,701,006 (GRCm39) |
splice site |
probably null |
|
|
R4684:Cyp2c68
|
UTSW |
19 |
39,687,779 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5023:Cyp2c68
|
UTSW |
19 |
39,700,951 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5513:Cyp2c68
|
UTSW |
19 |
39,691,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5568:Cyp2c68
|
UTSW |
19 |
39,677,526 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5706:Cyp2c68
|
UTSW |
19 |
39,722,762 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5890:Cyp2c68
|
UTSW |
19 |
39,700,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5897:Cyp2c68
|
UTSW |
19 |
39,700,975 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6007:Cyp2c68
|
UTSW |
19 |
39,722,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6132:Cyp2c68
|
UTSW |
19 |
39,691,858 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6187:Cyp2c68
|
UTSW |
19 |
39,729,452 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6229:Cyp2c68
|
UTSW |
19 |
39,727,622 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6341:Cyp2c68
|
UTSW |
19 |
39,700,933 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R7209:Cyp2c68
|
UTSW |
19 |
39,677,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7330:Cyp2c68
|
UTSW |
19 |
39,677,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7374:Cyp2c68
|
UTSW |
19 |
39,727,648 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7402:Cyp2c68
|
UTSW |
19 |
39,729,318 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7483:Cyp2c68
|
UTSW |
19 |
39,677,581 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9103:Cyp2c68
|
UTSW |
19 |
39,727,625 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9204:Cyp2c68
|
UTSW |
19 |
39,727,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9452:Cyp2c68
|
UTSW |
19 |
39,687,833 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
Z1088:Cyp2c68
|
UTSW |
19 |
39,727,907 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCATGAACACAGTGAATCC -3'
(R):5'- GTGAACAATGTTTAGCATCCTGAG -3'
Sequencing Primer
(F):5'- TCTGGCAAGAAAATGTGTCATC -3'
(R):5'- GCATCCTGAGACATTTATACATTGC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation