Incidental Mutation 'R7057:Cyp2c40'
| ID |
548021 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2c40
|
| Ensembl Gene |
ENSMUSG00000025004 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 40 |
| Synonyms |
|
| MMRRC Submission |
045154-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
R7057 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
39755517-39801258 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 39796063 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 60
(V60A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124618
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160476]
[ENSMUST00000162507]
[ENSMUST00000162630]
|
| AlphaFold |
P56657 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160476
AA Change: V105A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000125217
Gene: ENSMUSG00000025004
AA Change: V105A
| 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 |
probably damaging
Transcript: ENSMUST00000162507
AA Change: V60A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124618
Gene: ENSMUSG00000025004
AA Change: V60A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:p450
|
30 |
120 |
3.1e-13 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162630
AA Change: V105A
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000123884
Gene: ENSMUSG00000025004
AA Change: V105A
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009J06Rik |
T |
A |
6: 40,945,181 (GRCm39) |
V220D |
probably benign |
Het |
| Ankrd1 |
T |
C |
19: 36,095,633 (GRCm39) |
E113G |
possibly damaging |
Het |
| Aqp12 |
T |
C |
1: 92,939,718 (GRCm39) |
L249P |
probably damaging |
Het |
| Atg4a-ps |
A |
G |
3: 103,553,296 (GRCm39) |
F15S |
possibly damaging |
Het |
| Bub1 |
T |
A |
2: 127,671,447 (GRCm39) |
M46L |
probably benign |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| C2cd4d |
A |
G |
3: 94,270,800 (GRCm39) |
H22R |
probably benign |
Het |
| Ccdc157 |
A |
G |
11: 4,094,586 (GRCm39) |
V480A |
probably benign |
Het |
| Cdc42ep3 |
G |
A |
17: 79,642,952 (GRCm39) |
|
probably benign |
Het |
| Cela1 |
T |
A |
15: 100,580,774 (GRCm39) |
T161S |
possibly damaging |
Het |
| Chtf18 |
G |
T |
17: 25,940,100 (GRCm39) |
A697E |
possibly damaging |
Het |
| Cr2 |
T |
C |
1: 194,833,918 (GRCm39) |
D957G |
possibly damaging |
Het |
| Dazl |
CCATGATGGCGGC |
CC |
17: 50,600,434 (GRCm39) |
|
probably null |
Het |
| Dock2 |
A |
T |
11: 34,177,684 (GRCm39) |
L1824Q |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,586,044 (GRCm39) |
Y546C |
probably benign |
Het |
| Focad |
G |
A |
4: 88,192,342 (GRCm39) |
C557Y |
unknown |
Het |
| Ftmt |
T |
A |
18: 52,465,180 (GRCm39) |
N165K |
probably benign |
Het |
| Gen1 |
A |
C |
12: 11,292,419 (GRCm39) |
S457A |
probably benign |
Het |
| Gja1 |
T |
G |
10: 56,264,129 (GRCm39) |
S163A |
probably benign |
Het |
| Gm8267 |
T |
C |
14: 44,959,481 (GRCm39) |
I194M |
probably damaging |
Het |
| Golga3 |
T |
A |
5: 110,336,529 (GRCm39) |
S389R |
probably damaging |
Het |
| Gpc5 |
C |
A |
14: 115,370,654 (GRCm39) |
Q87K |
possibly damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,312,661 (GRCm39) |
A3420T |
probably damaging |
Het |
| Htt |
A |
G |
5: 34,979,067 (GRCm39) |
S817G |
probably null |
Het |
| Hus1b |
C |
T |
13: 31,131,533 (GRCm39) |
C42Y |
possibly damaging |
Het |
| Iars2 |
A |
G |
1: 185,021,564 (GRCm39) |
F913L |
probably benign |
Het |
| Kcna4 |
A |
G |
2: 107,125,665 (GRCm39) |
E133G |
probably damaging |
Het |
| Klhl36 |
T |
C |
8: 120,603,536 (GRCm39) |
L597P |
probably benign |
Het |
| Ltv1 |
T |
C |
10: 13,056,646 (GRCm39) |
E299G |
possibly damaging |
Het |
| Mmp12 |
A |
G |
9: 7,357,840 (GRCm39) |
Y348C |
probably damaging |
Het |
| Mmp12 |
G |
A |
9: 7,369,173 (GRCm39) |
V270I |
probably benign |
Het |
| Mmp2 |
A |
G |
8: 93,558,333 (GRCm39) |
D134G |
probably damaging |
Het |
| Mrpl15 |
A |
T |
1: 4,846,865 (GRCm39) |
M237K |
probably benign |
Het |
| Ms4a6b |
G |
T |
19: 11,504,253 (GRCm39) |
V177F |
possibly damaging |
Het |
| Muc16 |
A |
G |
9: 18,557,375 (GRCm39) |
S2973P |
unknown |
Het |
| Or1e30 |
A |
C |
11: 73,677,974 (GRCm39) |
D70A |
possibly damaging |
Het |
| Or4c114 |
A |
C |
2: 88,904,808 (GRCm39) |
I209S |
possibly damaging |
Het |
| Or5b120 |
G |
T |
19: 13,480,243 (GRCm39) |
D179Y |
probably damaging |
Het |
| Or5b12b |
A |
T |
19: 12,862,006 (GRCm39) |
I254F |
probably damaging |
Het |
| Or8b48 |
A |
T |
9: 38,493,050 (GRCm39) |
H159L |
probably damaging |
Het |
| Pikfyve |
T |
A |
1: 65,286,364 (GRCm39) |
I1201K |
probably benign |
Het |
| Plekhn1 |
T |
G |
4: 156,318,374 (GRCm39) |
M83L |
probably damaging |
Het |
| Pnlip |
G |
T |
19: 58,664,695 (GRCm39) |
D212Y |
probably damaging |
Het |
| Pomt2 |
T |
C |
12: 87,174,152 (GRCm39) |
N417S |
probably damaging |
Het |
| Pxylp1 |
T |
A |
9: 96,707,103 (GRCm39) |
M360L |
probably benign |
Het |
| Rbak |
G |
A |
5: 143,159,682 (GRCm39) |
T457I |
possibly damaging |
Het |
| Runx2 |
A |
T |
17: 45,125,424 (GRCm39) |
W31R |
probably null |
Het |
| Sec16a |
T |
A |
2: 26,315,277 (GRCm39) |
I1795F |
probably damaging |
Het |
| Sik2 |
A |
T |
9: 50,909,861 (GRCm39) |
I64N |
probably damaging |
Het |
| Slc26a8 |
T |
C |
17: 28,857,371 (GRCm39) |
E924G |
possibly damaging |
Het |
| Slc30a2 |
G |
A |
4: 134,074,726 (GRCm39) |
R161Q |
probably damaging |
Het |
| Slc45a4 |
C |
A |
15: 73,459,487 (GRCm39) |
D174Y |
probably damaging |
Het |
| Slc6a6 |
A |
C |
6: 91,718,248 (GRCm39) |
E354A |
probably damaging |
Het |
| Slc8a1 |
A |
T |
17: 81,956,524 (GRCm39) |
S171R |
probably damaging |
Het |
| Srgap1 |
T |
C |
10: 121,640,858 (GRCm39) |
I669M |
probably benign |
Het |
| Stk39 |
C |
A |
2: 68,240,471 (GRCm39) |
A87S |
possibly damaging |
Het |
| Tasor |
A |
T |
14: 27,183,608 (GRCm39) |
N689I |
probably damaging |
Het |
| Tbx18 |
C |
A |
9: 87,587,317 (GRCm39) |
S600I |
possibly damaging |
Het |
| Tesc |
A |
C |
5: 118,193,025 (GRCm39) |
K114Q |
probably damaging |
Het |
| Tll1 |
T |
C |
8: 64,554,915 (GRCm39) |
D256G |
probably damaging |
Het |
| Tmem35b |
T |
A |
4: 127,021,679 (GRCm39) |
I45K |
probably benign |
Het |
| Tnks |
T |
C |
8: 35,307,168 (GRCm39) |
D1127G |
probably damaging |
Het |
| Trpm8 |
A |
T |
1: 88,289,802 (GRCm39) |
D920V |
probably null |
Het |
| U2af1 |
A |
T |
17: 31,867,831 (GRCm39) |
D79E |
probably benign |
Het |
| Zfp704 |
T |
C |
3: 9,535,977 (GRCm39) |
D331G |
probably damaging |
Het |
| Znrf3 |
G |
T |
11: 5,232,442 (GRCm39) |
P261Q |
probably benign |
Het |
| Zscan4b |
A |
T |
7: 10,635,636 (GRCm39) |
C202* |
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 |
|
|
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 |
|
|
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'- AGCTTGCTCTGGAAACTGTC -3'
(R):5'- TCTGGCATACTGTAAGCCATG -3'
Sequencing Primer
(F):5'- GGAAACTGTCCAGTATACACATAAG -3'
(R):5'- CTGGCATACTGTAAGCCATGAATAC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation