Incidental Mutation 'R5619:Cyp2c40'
| ID |
439753 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2c40
|
| Ensembl Gene |
ENSMUSG00000025004 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 40 |
| Synonyms |
|
| MMRRC Submission |
043278-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R5619 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
39755517-39801258 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 39792228 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 239
(S239P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125217
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160476]
[ENSMUST00000162507]
[ENSMUST00000162630]
|
| AlphaFold |
P56657 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160476
AA Change: S239P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000125217
Gene: ENSMUSG00000025004
AA Change: S239P
| 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
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
99% (80/81) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| Adgre1 |
T |
G |
17: 57,727,437 (GRCm39) |
L456V |
probably benign |
Het |
| Adgrv1 |
C |
T |
13: 81,620,619 (GRCm39) |
G3943R |
probably damaging |
Het |
| Akap9 |
A |
G |
5: 4,004,760 (GRCm39) |
|
probably benign |
Het |
| Atp1a2 |
T |
A |
1: 172,106,948 (GRCm39) |
I791F |
probably damaging |
Het |
| BC004004 |
C |
G |
17: 29,501,703 (GRCm39) |
P81A |
probably damaging |
Het |
| Brca2 |
C |
A |
5: 150,480,579 (GRCm39) |
T2755K |
probably damaging |
Het |
| Cacna1c |
T |
C |
6: 118,719,322 (GRCm39) |
D215G |
probably damaging |
Het |
| Ccdc142 |
C |
T |
6: 83,080,603 (GRCm39) |
S445F |
probably benign |
Het |
| Comt |
T |
C |
16: 18,230,469 (GRCm39) |
E80G |
probably damaging |
Het |
| Coq7 |
T |
C |
7: 118,126,709 (GRCm39) |
|
probably benign |
Het |
| Coro7 |
C |
A |
16: 4,494,799 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
T |
C |
15: 28,302,581 (GRCm39) |
S1613P |
probably damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,118,885 (GRCm39) |
I2193M |
probably benign |
Het |
| Eipr1 |
A |
G |
12: 28,917,078 (GRCm39) |
Y382C |
probably damaging |
Het |
| Fastkd2 |
T |
A |
1: 63,778,469 (GRCm39) |
H447Q |
probably benign |
Het |
| Galk2 |
A |
T |
2: 125,817,317 (GRCm39) |
R369* |
probably null |
Het |
| Gli2 |
G |
A |
1: 118,764,485 (GRCm39) |
A1222V |
probably benign |
Het |
| Golim4 |
T |
A |
3: 75,813,802 (GRCm39) |
K141* |
probably null |
Het |
| Gtpbp3 |
G |
T |
8: 71,943,692 (GRCm39) |
|
probably benign |
Het |
| Gzmd |
C |
T |
14: 56,367,224 (GRCm39) |
A223T |
probably benign |
Het |
| Igf2r |
T |
C |
17: 12,958,221 (GRCm39) |
R151G |
probably damaging |
Het |
| Itga8 |
T |
A |
2: 12,270,139 (GRCm39) |
R116W |
probably damaging |
Het |
| Klhdc1 |
T |
G |
12: 69,304,919 (GRCm39) |
|
probably null |
Het |
| Klhl25 |
T |
C |
7: 75,516,602 (GRCm39) |
Y198H |
probably benign |
Het |
| Klhl29 |
A |
T |
12: 5,190,587 (GRCm39) |
M136K |
probably benign |
Het |
| Lipf |
A |
T |
19: 33,944,292 (GRCm39) |
Y167F |
possibly damaging |
Het |
| Lpar1 |
T |
C |
4: 58,487,155 (GRCm39) |
K39E |
possibly damaging |
Het |
| Mbtd1 |
T |
A |
11: 93,820,705 (GRCm39) |
|
probably null |
Het |
| Myo1a |
T |
A |
10: 127,554,413 (GRCm39) |
N794K |
probably benign |
Het |
| Nmrk1 |
T |
C |
19: 18,622,452 (GRCm39) |
L177P |
possibly damaging |
Het |
| Noxa1 |
C |
T |
2: 24,975,988 (GRCm39) |
E401K |
probably damaging |
Het |
| Or10g9b |
T |
A |
9: 39,918,039 (GRCm39) |
M69L |
probably benign |
Het |
| Or4f53 |
A |
T |
2: 111,087,856 (GRCm39) |
Y132F |
probably damaging |
Het |
| Ostm1 |
T |
A |
10: 42,555,325 (GRCm39) |
C116S |
probably damaging |
Het |
| Pcdhga7 |
T |
C |
18: 37,848,800 (GRCm39) |
I269T |
probably benign |
Het |
| Pfkfb3 |
T |
C |
2: 11,489,470 (GRCm39) |
K276R |
probably benign |
Het |
| Pfkp |
A |
T |
13: 6,648,765 (GRCm39) |
|
probably benign |
Het |
| Pitpnm1 |
A |
G |
19: 4,153,270 (GRCm39) |
D142G |
probably damaging |
Het |
| Pkp3 |
T |
C |
7: 140,668,419 (GRCm39) |
L556P |
probably damaging |
Het |
| Plb1 |
C |
A |
5: 32,490,841 (GRCm39) |
T1046N |
probably damaging |
Het |
| Plxnb2 |
T |
C |
15: 89,047,012 (GRCm39) |
S770G |
possibly damaging |
Het |
| Polk |
A |
T |
13: 96,620,064 (GRCm39) |
I733N |
probably damaging |
Het |
| Potegl |
T |
C |
2: 23,147,017 (GRCm39) |
|
probably null |
Het |
| Prkg2 |
C |
A |
5: 99,136,156 (GRCm39) |
C301F |
probably damaging |
Het |
| Rabgap1l |
T |
C |
1: 160,066,142 (GRCm39) |
T189A |
probably benign |
Het |
| Raph1 |
T |
C |
1: 60,529,414 (GRCm39) |
|
probably benign |
Het |
| Rbm22 |
T |
A |
18: 60,693,899 (GRCm39) |
M1K |
probably null |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rnf186 |
T |
A |
4: 138,694,715 (GRCm39) |
I85N |
probably benign |
Het |
| Ryr2 |
C |
A |
13: 11,723,088 (GRCm39) |
R2517L |
probably damaging |
Het |
| Sec63 |
T |
A |
10: 42,665,378 (GRCm39) |
Y103N |
probably damaging |
Het |
| Serpinb3a |
G |
A |
1: 106,974,838 (GRCm39) |
P232S |
probably damaging |
Het |
| Slco6d1 |
C |
A |
1: 98,423,947 (GRCm39) |
T533K |
probably damaging |
Het |
| Smarcad1 |
T |
A |
6: 65,088,865 (GRCm39) |
D1000E |
probably benign |
Het |
| Spata46 |
A |
T |
1: 170,136,490 (GRCm39) |
I14F |
probably damaging |
Het |
| Speer4b |
T |
C |
5: 27,703,815 (GRCm39) |
H106R |
possibly damaging |
Het |
| Spint4 |
T |
C |
2: 164,542,761 (GRCm39) |
L118P |
probably benign |
Het |
| Sptbn5 |
A |
G |
2: 119,880,613 (GRCm39) |
|
noncoding transcript |
Het |
| Tgfbr3 |
A |
T |
5: 107,288,380 (GRCm39) |
I427N |
probably benign |
Het |
| Thbs2 |
C |
A |
17: 14,901,506 (GRCm39) |
C491F |
probably damaging |
Het |
| Tmem232 |
T |
A |
17: 65,793,506 (GRCm39) |
E64D |
probably benign |
Het |
| Tnpo3 |
A |
T |
6: 29,565,197 (GRCm39) |
C585* |
probably null |
Het |
| Ttc13 |
A |
T |
8: 125,406,683 (GRCm39) |
|
probably benign |
Het |
| Tuba8 |
C |
T |
6: 121,202,854 (GRCm39) |
A389V |
probably damaging |
Het |
| Uqcc4 |
G |
A |
17: 25,403,963 (GRCm39) |
S101N |
probably damaging |
Het |
| Usp25 |
A |
G |
16: 76,830,833 (GRCm39) |
I30V |
probably benign |
Het |
| Vmn2r31 |
T |
A |
7: 7,387,529 (GRCm39) |
K681* |
probably null |
Het |
| Vmn2r88 |
A |
G |
14: 51,651,367 (GRCm39) |
E235G |
probably damaging |
Het |
| Vps29 |
T |
A |
5: 122,492,511 (GRCm39) |
|
probably benign |
Het |
| Wdr1 |
A |
C |
5: 38,686,879 (GRCm39) |
V568G |
possibly damaging |
Het |
| Zfp64 |
T |
G |
2: 168,741,734 (GRCm39) |
Q398P |
probably damaging |
Het |
| Zfp64 |
G |
T |
2: 168,741,735 (GRCm39) |
Q398K |
probably damaging |
Het |
| Zfp839 |
T |
C |
12: 110,830,470 (GRCm39) |
Y398H |
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 |
|
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 |
|
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'- CTACAACTGTTTTGGCATTTGC -3'
(R):5'- GTACCTTATCATGTTAACAAGGGC -3'
Sequencing Primer
(F):5'- GCCCCTTAGTTTTAATGCTTGTATAG -3'
(R):5'- CATGTTAACAAGGGCAAATGTATGTG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation