Incidental Mutation 'R1068:Cyp2c40'
ID |
86112 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2c40
|
Ensembl Gene |
ENSMUSG00000025004 |
Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 40 |
Synonyms |
|
MMRRC Submission |
039154-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.088)
|
Stock # |
R1068 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
39755517-39801258 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 39801025 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 77
(K77E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125217
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160476]
[ENSMUST00000162507]
[ENSMUST00000162630]
|
AlphaFold |
P56657 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160476
AA Change: K77E
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000125217 Gene: ENSMUSG00000025004 AA Change: K77E
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 |
possibly damaging
Transcript: ENSMUST00000162507
AA Change: K48E
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000124618 Gene: ENSMUSG00000025004 AA Change: K48E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:p450
|
30 |
120 |
3.1e-13 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162630
AA Change: K77E
PolyPhen 2
Score 0.604 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000123884 Gene: ENSMUSG00000025004 AA Change: K77E
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 |
|
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.6%
- 20x: 94.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930546C10Rik |
A |
T |
18: 69,083,139 (GRCm39) |
V25E |
unknown |
Het |
Acsm4 |
C |
A |
7: 119,307,933 (GRCm39) |
Q357K |
probably benign |
Het |
Adam11 |
T |
G |
11: 102,667,204 (GRCm39) |
L619R |
probably damaging |
Het |
Ccne2 |
A |
G |
4: 11,192,850 (GRCm39) |
N17S |
probably benign |
Het |
Cfap52 |
T |
C |
11: 67,829,830 (GRCm39) |
H313R |
probably benign |
Het |
Chsy3 |
A |
T |
18: 59,543,361 (GRCm39) |
H833L |
probably damaging |
Het |
Csnk1a1 |
G |
T |
18: 61,702,634 (GRCm39) |
|
probably null |
Het |
Dmtf1 |
T |
C |
5: 9,186,109 (GRCm39) |
E159G |
probably damaging |
Het |
Fat3 |
C |
T |
9: 15,881,330 (GRCm39) |
V3181I |
probably benign |
Het |
Gab1 |
T |
C |
8: 81,526,801 (GRCm39) |
D99G |
possibly damaging |
Het |
Garem1 |
T |
C |
18: 21,301,812 (GRCm39) |
E125G |
probably benign |
Het |
Kcnf1 |
A |
G |
12: 17,225,475 (GRCm39) |
Y249H |
probably damaging |
Het |
Kit |
C |
T |
5: 75,770,178 (GRCm39) |
H197Y |
probably benign |
Het |
Memo1 |
T |
A |
17: 74,532,550 (GRCm39) |
I153F |
probably damaging |
Het |
Myh7 |
T |
A |
14: 55,224,776 (GRCm39) |
N597I |
possibly damaging |
Het |
Nop2 |
A |
G |
6: 125,109,242 (GRCm39) |
K23E |
probably damaging |
Het |
Nxf1 |
T |
A |
19: 8,740,118 (GRCm39) |
V95E |
probably damaging |
Het |
Pamr1 |
T |
A |
2: 102,472,590 (GRCm39) |
C630S |
probably damaging |
Het |
Ptprh |
G |
T |
7: 4,552,462 (GRCm39) |
P934Q |
possibly damaging |
Het |
Ralgapa1 |
A |
G |
12: 55,837,095 (GRCm39) |
|
probably null |
Het |
Ralyl |
T |
A |
3: 13,841,949 (GRCm39) |
N28K |
probably damaging |
Het |
Rasgrp1 |
A |
G |
2: 117,113,057 (GRCm39) |
V785A |
probably benign |
Het |
Rpp30 |
T |
A |
19: 36,061,138 (GRCm39) |
M1K |
probably null |
Het |
Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
Snx19 |
G |
A |
9: 30,340,314 (GRCm39) |
R484Q |
probably damaging |
Het |
Speer4a1 |
A |
T |
5: 26,241,024 (GRCm39) |
L156Q |
probably null |
Het |
St18 |
A |
G |
1: 6,865,786 (GRCm39) |
D88G |
probably benign |
Het |
Syt7 |
T |
C |
19: 10,421,375 (GRCm39) |
Y520H |
probably benign |
Het |
Taf7l2 |
C |
T |
10: 115,949,359 (GRCm39) |
V56I |
probably damaging |
Het |
Tle4 |
C |
G |
19: 14,429,543 (GRCm39) |
W674C |
probably damaging |
Het |
Tnik |
T |
A |
3: 28,587,124 (GRCm39) |
Y132N |
probably damaging |
Het |
Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
Vps11 |
A |
T |
9: 44,264,316 (GRCm39) |
L719Q |
probably damaging |
Het |
Zc3h4 |
T |
G |
7: 16,163,161 (GRCm39) |
H520Q |
unknown |
Het |
Zdbf2 |
C |
T |
1: 63,342,589 (GRCm39) |
R323C |
possibly damaging |
Het |
Zfp616 |
T |
A |
11: 73,973,767 (GRCm39) |
*99K |
probably null |
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 |
R0441:Cyp2c40
|
UTSW |
19 |
39,795,607 (GRCm39) |
splice site |
probably benign |
|
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'- gctcagaggaccaacaacaCAAAATAATAGAA -3'
(R):5'- TCAGCCTTACTTGTCACAACTCAACAAA -3'
Sequencing Primer
(F):5'- GGGTCTTCAATCTGAAACTTAGAGC -3'
(R):5'- GTTGATTGCACAAAGATGCCC -3'
|
Posted On |
2013-11-18 |