Incidental Mutation 'R0441:Cyp2c40'
ID |
39196 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2c40
|
Ensembl Gene |
ENSMUSG00000025004 |
Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 40 |
Synonyms |
|
MMRRC Submission |
038642-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.088)
|
Stock # |
R0441 (G1)
|
Quality Score |
119 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
39755517-39801258 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 39795607 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123884
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160476]
[ENSMUST00000162507]
[ENSMUST00000162630]
|
AlphaFold |
P56657 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000160476
|
SMART Domains |
Protein: ENSMUSP00000125217 Gene: ENSMUSG00000025004
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
transmembrane domain
|
32 |
49 |
N/A |
INTRINSIC |
Pfam:p450
|
59 |
516 |
9.8e-153 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162434
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162507
|
SMART Domains |
Protein: ENSMUSP00000124618 Gene: ENSMUSG00000025004
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:p450
|
30 |
120 |
3.1e-13 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162630
|
SMART Domains |
Protein: ENSMUSP00000123884 Gene: ENSMUSG00000025004
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
transmembrane domain
|
32 |
49 |
N/A |
INTRINSIC |
Pfam:p450
|
59 |
193 |
6.6e-33 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163090
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.6%
|
Validation Efficiency |
100% (71/71) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921539E11Rik |
T |
C |
4: 103,092,689 (GRCm39) |
|
probably benign |
Het |
Adgrv1 |
G |
A |
13: 81,545,345 (GRCm39) |
R5647* |
probably null |
Het |
Agbl2 |
C |
T |
2: 90,627,827 (GRCm39) |
R211* |
probably null |
Het |
Akap9 |
A |
G |
5: 4,011,714 (GRCm39) |
K806E |
probably benign |
Het |
Ampd1 |
C |
G |
3: 102,995,794 (GRCm39) |
L235V |
probably benign |
Het |
Atcay |
T |
C |
10: 81,060,294 (GRCm39) |
D14G |
possibly damaging |
Het |
Atp8b4 |
C |
T |
2: 126,220,626 (GRCm39) |
|
probably benign |
Het |
Bmp8b |
T |
C |
4: 123,018,308 (GRCm39) |
V393A |
probably damaging |
Het |
Brca2 |
T |
A |
5: 150,465,322 (GRCm39) |
D1695E |
probably damaging |
Het |
Cdh15 |
A |
G |
8: 123,587,705 (GRCm39) |
I210V |
probably damaging |
Het |
Cep250 |
T |
C |
2: 155,813,924 (GRCm39) |
L564P |
possibly damaging |
Het |
Cmpk1 |
T |
C |
4: 114,822,220 (GRCm39) |
T110A |
probably benign |
Het |
Cpsf3 |
T |
G |
12: 21,350,085 (GRCm39) |
I268S |
probably damaging |
Het |
Csmd2 |
C |
T |
4: 128,414,023 (GRCm39) |
A2621V |
probably benign |
Het |
D430041D05Rik |
T |
A |
2: 103,998,292 (GRCm39) |
Y1837F |
probably damaging |
Het |
Degs2 |
A |
G |
12: 108,668,469 (GRCm39) |
F10S |
probably damaging |
Het |
Dytn |
T |
A |
1: 63,717,933 (GRCm39) |
|
probably benign |
Het |
Elfn2 |
G |
C |
15: 78,557,795 (GRCm39) |
P251A |
probably benign |
Het |
Epg5 |
T |
C |
18: 78,066,486 (GRCm39) |
|
probably benign |
Het |
Evc2 |
A |
G |
5: 37,574,811 (GRCm39) |
D1022G |
probably damaging |
Het |
Fat3 |
A |
G |
9: 15,856,304 (GRCm39) |
|
probably benign |
Het |
Fbn1 |
A |
T |
2: 125,151,675 (GRCm39) |
|
probably null |
Het |
Gm15217 |
T |
C |
14: 46,620,676 (GRCm39) |
|
probably null |
Het |
Gm17611 |
A |
T |
13: 50,130,435 (GRCm39) |
|
noncoding transcript |
Het |
Gpld1 |
G |
A |
13: 25,146,303 (GRCm39) |
W182* |
probably null |
Het |
Gsc |
T |
C |
12: 104,439,353 (GRCm39) |
I8V |
probably damaging |
Het |
Hck |
A |
G |
2: 152,976,052 (GRCm39) |
K197R |
probably benign |
Het |
Kat6b |
T |
C |
14: 21,720,301 (GRCm39) |
L1551P |
probably damaging |
Het |
Lrch1 |
C |
T |
14: 75,184,985 (GRCm39) |
G39D |
possibly damaging |
Het |
Macf1 |
T |
C |
4: 123,259,148 (GRCm39) |
|
probably null |
Het |
Mroh9 |
A |
T |
1: 162,888,331 (GRCm39) |
V248E |
probably damaging |
Het |
Mrps15 |
C |
A |
4: 125,945,210 (GRCm39) |
|
probably benign |
Het |
Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
Ndufa5 |
T |
C |
6: 24,522,750 (GRCm39) |
T31A |
probably benign |
Het |
Nfyb |
A |
G |
10: 82,586,594 (GRCm39) |
V190A |
possibly damaging |
Het |
Nos2 |
A |
G |
11: 78,819,409 (GRCm39) |
I40M |
probably benign |
Het |
Or2f2 |
T |
C |
6: 42,767,108 (GRCm39) |
I45T |
probably damaging |
Het |
Or5ar1 |
A |
T |
2: 85,671,859 (GRCm39) |
I92N |
probably damaging |
Het |
Or8k37 |
A |
T |
2: 86,469,674 (GRCm39) |
I126K |
probably damaging |
Het |
Otog |
T |
C |
7: 45,955,301 (GRCm39) |
S564P |
probably damaging |
Het |
Pak5 |
C |
T |
2: 135,958,549 (GRCm39) |
A180T |
probably benign |
Het |
Pappa2 |
T |
C |
1: 158,590,628 (GRCm39) |
|
probably benign |
Het |
Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
Plxnc1 |
T |
A |
10: 94,632,344 (GRCm39) |
N1431I |
probably damaging |
Het |
Prph |
A |
T |
15: 98,955,319 (GRCm39) |
I429L |
probably damaging |
Het |
Prrc2a |
A |
G |
17: 35,368,664 (GRCm39) |
|
probably benign |
Het |
Pwwp3a |
A |
T |
10: 80,064,859 (GRCm39) |
N30Y |
probably damaging |
Het |
Rad54b |
A |
T |
4: 11,563,394 (GRCm39) |
T18S |
probably benign |
Het |
Ranbp2 |
A |
G |
10: 58,321,590 (GRCm39) |
E2629G |
probably benign |
Het |
Rec114 |
G |
A |
9: 58,565,053 (GRCm39) |
T201I |
probably benign |
Het |
Rspo1 |
G |
A |
4: 124,885,190 (GRCm39) |
R22Q |
probably benign |
Het |
Sec23b |
A |
G |
2: 144,423,917 (GRCm39) |
E522G |
probably damaging |
Het |
Sgsm3 |
G |
A |
15: 80,893,971 (GRCm39) |
R502H |
possibly damaging |
Het |
Sh3pxd2b |
C |
A |
11: 32,373,023 (GRCm39) |
A730D |
possibly damaging |
Het |
Spag4 |
A |
G |
2: 155,909,899 (GRCm39) |
D187G |
probably damaging |
Het |
Srgap2 |
G |
A |
1: 131,264,175 (GRCm39) |
T465I |
probably damaging |
Het |
St3gal6 |
G |
T |
16: 58,293,818 (GRCm39) |
A237E |
probably damaging |
Het |
St3gal6 |
C |
A |
16: 58,293,816 (GRCm39) |
A238S |
probably damaging |
Het |
Tecpr1 |
C |
A |
5: 144,132,759 (GRCm39) |
R1159L |
probably benign |
Het |
Tmem63b |
A |
T |
17: 45,977,241 (GRCm39) |
|
probably null |
Het |
Tmtc1 |
T |
A |
6: 148,317,256 (GRCm39) |
D78V |
probably damaging |
Het |
Tpp2 |
A |
G |
1: 44,029,722 (GRCm39) |
N68D |
possibly damaging |
Het |
Ttn |
C |
A |
2: 76,770,269 (GRCm39) |
A2641S |
probably benign |
Het |
Uimc1 |
T |
C |
13: 55,241,032 (GRCm39) |
K19E |
probably damaging |
Het |
Utrn |
T |
A |
10: 12,564,038 (GRCm39) |
E1274V |
probably null |
Het |
Vmn2r102 |
A |
T |
17: 19,914,630 (GRCm39) |
I732F |
probably damaging |
Het |
Wrn |
A |
T |
8: 33,758,778 (GRCm39) |
M792K |
probably benign |
Het |
Zfp451 |
A |
G |
1: 33,816,126 (GRCm39) |
I608T |
probably damaging |
Het |
|
Other mutations in Cyp2c40 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01384:Cyp2c40
|
APN |
19 |
39,801,027 (GRCm39) |
missense |
probably benign |
0.17 |
IGL01660:Cyp2c40
|
APN |
19 |
39,775,254 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01897:Cyp2c40
|
APN |
19 |
39,792,217 (GRCm39) |
nonsense |
probably null |
|
IGL01926:Cyp2c40
|
APN |
19 |
39,791,099 (GRCm39) |
missense |
probably benign |
0.25 |
IGL02078:Cyp2c40
|
APN |
19 |
39,755,926 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02259:Cyp2c40
|
APN |
19 |
39,792,246 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02716:Cyp2c40
|
APN |
19 |
39,795,980 (GRCm39) |
missense |
possibly damaging |
0.49 |
cypriot
|
UTSW |
19 |
39,755,899 (GRCm39) |
missense |
probably damaging |
0.98 |
R0269:Cyp2c40
|
UTSW |
19 |
39,762,340 (GRCm39) |
missense |
probably damaging |
1.00 |
R0308:Cyp2c40
|
UTSW |
19 |
39,766,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R0309:Cyp2c40
|
UTSW |
19 |
39,766,495 (GRCm39) |
missense |
possibly damaging |
0.51 |
R1068:Cyp2c40
|
UTSW |
19 |
39,801,025 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1123:Cyp2c40
|
UTSW |
19 |
39,801,121 (GRCm39) |
missense |
probably benign |
0.00 |
R1443:Cyp2c40
|
UTSW |
19 |
39,766,415 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1506:Cyp2c40
|
UTSW |
19 |
39,766,443 (GRCm39) |
missense |
probably damaging |
0.96 |
R1567:Cyp2c40
|
UTSW |
19 |
39,792,215 (GRCm39) |
missense |
probably null |
0.99 |
R1731:Cyp2c40
|
UTSW |
19 |
39,801,133 (GRCm39) |
missense |
probably damaging |
1.00 |
R1774:Cyp2c40
|
UTSW |
19 |
39,775,250 (GRCm39) |
missense |
probably damaging |
1.00 |
R1861:Cyp2c40
|
UTSW |
19 |
39,775,319 (GRCm39) |
missense |
probably benign |
0.11 |
R1977:Cyp2c40
|
UTSW |
19 |
39,766,485 (GRCm39) |
missense |
probably damaging |
1.00 |
R2022:Cyp2c40
|
UTSW |
19 |
39,801,224 (GRCm39) |
unclassified |
probably benign |
|
R2063:Cyp2c40
|
UTSW |
19 |
39,775,224 (GRCm39) |
missense |
probably benign |
0.01 |
R2359:Cyp2c40
|
UTSW |
19 |
39,766,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R2413:Cyp2c40
|
UTSW |
19 |
39,792,331 (GRCm39) |
nonsense |
probably null |
|
R3685:Cyp2c40
|
UTSW |
19 |
39,775,223 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4080:Cyp2c40
|
UTSW |
19 |
39,790,973 (GRCm39) |
missense |
probably benign |
0.01 |
R4614:Cyp2c40
|
UTSW |
19 |
39,792,300 (GRCm39) |
missense |
probably damaging |
1.00 |
R4661:Cyp2c40
|
UTSW |
19 |
39,775,290 (GRCm39) |
missense |
probably benign |
0.00 |
R4716:Cyp2c40
|
UTSW |
19 |
39,791,105 (GRCm39) |
splice site |
probably null |
|
R4799:Cyp2c40
|
UTSW |
19 |
39,762,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R5133:Cyp2c40
|
UTSW |
19 |
39,795,663 (GRCm39) |
missense |
probably benign |
0.02 |
R5191:Cyp2c40
|
UTSW |
19 |
39,791,035 (GRCm39) |
missense |
probably damaging |
0.96 |
R5310:Cyp2c40
|
UTSW |
19 |
39,766,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R5455:Cyp2c40
|
UTSW |
19 |
39,792,236 (GRCm39) |
missense |
possibly damaging |
0.75 |
R5619:Cyp2c40
|
UTSW |
19 |
39,792,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R5989:Cyp2c40
|
UTSW |
19 |
39,796,024 (GRCm39) |
missense |
probably benign |
0.45 |
R6175:Cyp2c40
|
UTSW |
19 |
39,801,004 (GRCm39) |
missense |
probably benign |
0.00 |
R6622:Cyp2c40
|
UTSW |
19 |
39,790,990 (GRCm39) |
missense |
probably damaging |
1.00 |
R6987:Cyp2c40
|
UTSW |
19 |
39,801,211 (GRCm39) |
unclassified |
probably benign |
|
R7057:Cyp2c40
|
UTSW |
19 |
39,796,063 (GRCm39) |
missense |
probably damaging |
1.00 |
R7485:Cyp2c40
|
UTSW |
19 |
39,796,050 (GRCm39) |
nonsense |
probably null |
|
R7560:Cyp2c40
|
UTSW |
19 |
39,795,658 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7648:Cyp2c40
|
UTSW |
19 |
39,792,289 (GRCm39) |
makesense |
probably null |
|
R7718:Cyp2c40
|
UTSW |
19 |
39,755,782 (GRCm39) |
missense |
probably benign |
0.00 |
R7763:Cyp2c40
|
UTSW |
19 |
39,795,612 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7893:Cyp2c40
|
UTSW |
19 |
39,775,292 (GRCm39) |
missense |
probably damaging |
0.99 |
R8094:Cyp2c40
|
UTSW |
19 |
39,791,015 (GRCm39) |
missense |
probably benign |
0.00 |
R8094:Cyp2c40
|
UTSW |
19 |
39,791,009 (GRCm39) |
missense |
probably benign |
0.17 |
R8264:Cyp2c40
|
UTSW |
19 |
39,795,971 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8287:Cyp2c40
|
UTSW |
19 |
39,755,899 (GRCm39) |
missense |
probably damaging |
0.98 |
R8302:Cyp2c40
|
UTSW |
19 |
39,796,066 (GRCm39) |
missense |
probably damaging |
1.00 |
R8848:Cyp2c40
|
UTSW |
19 |
39,801,244 (GRCm39) |
missense |
unknown |
|
R8915:Cyp2c40
|
UTSW |
19 |
39,795,991 (GRCm39) |
missense |
probably benign |
0.31 |
R8963:Cyp2c40
|
UTSW |
19 |
39,755,926 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9132:Cyp2c40
|
UTSW |
19 |
39,762,317 (GRCm39) |
missense |
probably damaging |
1.00 |
R9159:Cyp2c40
|
UTSW |
19 |
39,762,317 (GRCm39) |
missense |
probably damaging |
1.00 |
R9168:Cyp2c40
|
UTSW |
19 |
39,755,819 (GRCm39) |
missense |
probably benign |
|
R9486:Cyp2c40
|
UTSW |
19 |
39,796,050 (GRCm39) |
nonsense |
probably null |
|
R9486:Cyp2c40
|
UTSW |
19 |
39,755,808 (GRCm39) |
missense |
probably benign |
0.00 |
R9489:Cyp2c40
|
UTSW |
19 |
39,766,443 (GRCm39) |
missense |
probably damaging |
1.00 |
R9605:Cyp2c40
|
UTSW |
19 |
39,766,443 (GRCm39) |
missense |
probably damaging |
1.00 |
R9772:Cyp2c40
|
UTSW |
19 |
39,792,348 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGAGGTGCTATCCATTGCCAGAGAG -3'
(R):5'- AGTTTCCAGAGCAAGCTGAAAGGTG -3'
Sequencing Primer
(F):5'- gaaagaaagaaagaaagaaagaaggg -3'
(R):5'- GGGCTCTATAAATCTGCCACCTG -3'
|
Posted On |
2013-05-23 |