Incidental Mutation 'R5894:Cyp2c29'
| ID |
457426 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2c29
|
| Ensembl Gene |
ENSMUSG00000003053 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 29 |
| Synonyms |
AHOHase, Ahh-1, Ah-2, P450-2C, Cyp2c, AHOH |
| MMRRC Submission |
043238-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R5894 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
39275541-39319157 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 39318833 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Proline
at position 438
(A438P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135863
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003137]
[ENSMUST00000176624]
[ENSMUST00000177087]
|
| AlphaFold |
Q64458 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003137
AA Change: A477P
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000003137
Gene: ENSMUSG00000003053
AA Change: A477P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
19 |
N/A |
INTRINSIC |
|
Pfam:p450
|
30 |
487 |
5.4e-165 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176624
AA Change: A438P
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135863
Gene: ENSMUSG00000003053
AA Change: A438P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
12 |
448 |
2.7e-156 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177087
|
| SMART Domains |
Protein: ENSMUSP00000135839
Gene: ENSMUSG00000003053
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
19 |
N/A |
INTRINSIC |
|
Pfam:p450
|
30 |
118 |
8.4e-22 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503B20Rik |
T |
A |
3: 146,356,680 (GRCm39) |
E76V |
probably benign |
Het |
| Adcy2 |
A |
T |
13: 68,773,971 (GRCm39) |
I1024N |
probably damaging |
Het |
| Agr2 |
A |
C |
12: 36,045,509 (GRCm39) |
|
probably benign |
Het |
| Alpk2 |
T |
A |
18: 65,414,143 (GRCm39) |
H1991L |
probably damaging |
Het |
| Amotl2 |
T |
A |
9: 102,602,371 (GRCm39) |
M448K |
possibly damaging |
Het |
| Ankhd1 |
T |
A |
18: 36,780,577 (GRCm39) |
F1876L |
probably damaging |
Het |
| Arl14 |
T |
C |
3: 69,130,009 (GRCm39) |
V52A |
probably benign |
Het |
| Atp6v1b2 |
T |
A |
8: 69,560,218 (GRCm39) |
|
probably null |
Het |
| Bmal2 |
A |
G |
6: 146,724,732 (GRCm39) |
T409A |
possibly damaging |
Het |
| Bpifb4 |
G |
A |
2: 153,782,852 (GRCm39) |
R19H |
possibly damaging |
Het |
| Cdh9 |
T |
A |
15: 16,832,186 (GRCm39) |
L358I |
possibly damaging |
Het |
| Ces2h |
T |
G |
8: 105,745,658 (GRCm39) |
I460M |
probably benign |
Het |
| Cog2 |
T |
C |
8: 125,272,006 (GRCm39) |
Y507H |
probably benign |
Het |
| Crlf3 |
T |
A |
11: 79,948,678 (GRCm39) |
R256W |
probably damaging |
Het |
| Csdc2 |
T |
A |
15: 81,832,881 (GRCm39) |
F96I |
probably damaging |
Het |
| Csk |
A |
C |
9: 57,535,958 (GRCm39) |
I264S |
probably damaging |
Het |
| Ddx43 |
G |
A |
9: 78,324,016 (GRCm39) |
G449D |
probably damaging |
Het |
| Fbxw18 |
G |
T |
9: 109,529,235 (GRCm39) |
A106E |
possibly damaging |
Het |
| Fchsd2 |
C |
T |
7: 100,840,959 (GRCm39) |
T156I |
probably benign |
Het |
| Frs2 |
T |
A |
10: 116,917,011 (GRCm39) |
|
probably benign |
Het |
| Gm57858 |
C |
T |
3: 36,074,124 (GRCm39) |
E342K |
possibly damaging |
Het |
| Grid2ip |
A |
T |
5: 143,374,666 (GRCm39) |
T922S |
probably damaging |
Het |
| Grm1 |
A |
G |
10: 10,955,999 (GRCm39) |
L95P |
probably damaging |
Het |
| Ift140 |
T |
C |
17: 25,252,893 (GRCm39) |
V348A |
possibly damaging |
Het |
| Insr |
A |
G |
8: 3,224,869 (GRCm39) |
S200P |
possibly damaging |
Het |
| Ints12 |
A |
T |
3: 132,804,319 (GRCm39) |
D102V |
probably damaging |
Het |
| Kank1 |
A |
G |
19: 25,401,564 (GRCm39) |
D1057G |
probably damaging |
Het |
| Kng1 |
T |
A |
16: 22,892,113 (GRCm39) |
D225E |
probably benign |
Het |
| Lama1 |
A |
T |
17: 68,086,042 (GRCm39) |
|
probably null |
Het |
| Lpin2 |
A |
G |
17: 71,553,929 (GRCm39) |
D882G |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 41,388,233 (GRCm39) |
F464Y |
probably benign |
Het |
| Musk |
G |
A |
4: 58,373,583 (GRCm39) |
C836Y |
probably damaging |
Het |
| Mx1 |
C |
T |
16: 97,255,406 (GRCm39) |
D216N |
probably damaging |
Het |
| Ndrg3 |
A |
T |
2: 156,770,698 (GRCm39) |
N350K |
probably benign |
Het |
| Oas3 |
G |
A |
5: 120,895,019 (GRCm39) |
P990L |
probably damaging |
Het |
| Or4c111 |
T |
A |
2: 88,844,399 (GRCm39) |
N3I |
probably damaging |
Het |
| Or4c12b |
T |
C |
2: 89,647,557 (GRCm39) |
S296P |
possibly damaging |
Het |
| Or6c2 |
A |
G |
10: 129,362,357 (GRCm39) |
D87G |
probably damaging |
Het |
| Otoa |
T |
C |
7: 120,721,092 (GRCm39) |
L369P |
probably damaging |
Het |
| Plcg2 |
A |
G |
8: 118,231,088 (GRCm39) |
T57A |
probably damaging |
Het |
| Prune2 |
A |
T |
19: 17,098,755 (GRCm39) |
T1420S |
possibly damaging |
Het |
| Ptpdc1 |
A |
G |
13: 48,743,798 (GRCm39) |
F201S |
probably damaging |
Het |
| Rnf214 |
A |
G |
9: 45,777,916 (GRCm39) |
V630A |
probably damaging |
Het |
| Rxrb |
T |
A |
17: 34,254,718 (GRCm39) |
I181N |
probably damaging |
Het |
| Scrib |
T |
C |
15: 75,939,581 (GRCm39) |
N69S |
probably damaging |
Het |
| Scyl2 |
A |
G |
10: 89,476,681 (GRCm39) |
S815P |
probably benign |
Het |
| Sgcd |
A |
G |
11: 47,246,028 (GRCm39) |
V58A |
probably damaging |
Het |
| Slc13a3 |
C |
T |
2: 165,266,543 (GRCm39) |
V374I |
probably benign |
Het |
| Slc22a4 |
A |
T |
11: 53,888,341 (GRCm39) |
I229N |
probably benign |
Het |
| Slc44a5 |
A |
G |
3: 153,962,210 (GRCm39) |
Y381C |
probably damaging |
Het |
| Sohlh1 |
A |
G |
2: 25,734,679 (GRCm39) |
S205P |
possibly damaging |
Het |
| Spata20 |
T |
C |
11: 94,374,444 (GRCm39) |
M308V |
probably damaging |
Het |
| Stag3 |
T |
G |
5: 138,297,100 (GRCm39) |
I550R |
probably damaging |
Het |
| Tac2 |
A |
G |
10: 127,561,971 (GRCm39) |
E25G |
possibly damaging |
Het |
| Tars2 |
T |
C |
3: 95,654,964 (GRCm39) |
|
probably null |
Het |
| Tefm |
G |
A |
11: 80,031,057 (GRCm39) |
R60C |
probably damaging |
Het |
| Trem3 |
T |
C |
17: 48,565,483 (GRCm39) |
V179A |
probably benign |
Het |
| Trim37 |
G |
T |
11: 87,092,266 (GRCm39) |
D692Y |
probably damaging |
Het |
| Trpc4ap |
T |
C |
2: 155,508,133 (GRCm39) |
T173A |
probably benign |
Het |
| Unc13c |
C |
T |
9: 73,600,486 (GRCm39) |
|
probably null |
Het |
| Usp18 |
A |
G |
6: 121,238,456 (GRCm39) |
K201R |
probably benign |
Het |
| Usp35 |
T |
A |
7: 96,962,284 (GRCm39) |
Y524F |
probably damaging |
Het |
| Usp53 |
A |
G |
3: 122,752,734 (GRCm39) |
F208L |
probably damaging |
Het |
| Vmn1r80 |
A |
T |
7: 11,927,654 (GRCm39) |
I255F |
probably damaging |
Het |
| Vstm2a |
A |
T |
11: 16,211,483 (GRCm39) |
I98F |
probably benign |
Het |
| Wdfy4 |
T |
A |
14: 32,855,317 (GRCm39) |
I766F |
possibly damaging |
Het |
| Wdr17 |
T |
A |
8: 55,149,335 (GRCm39) |
Y55F |
probably damaging |
Het |
| Xpot |
T |
C |
10: 121,449,551 (GRCm39) |
K172R |
probably damaging |
Het |
|
| Other mutations in Cyp2c29 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00420:Cyp2c29
|
APN |
19 |
39,310,143 (GRCm39) |
splice site |
probably benign |
|
|
IGL00482:Cyp2c29
|
APN |
19 |
39,313,467 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL00694:Cyp2c29
|
APN |
19 |
39,310,079 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL00836:Cyp2c29
|
APN |
19 |
39,313,434 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00858:Cyp2c29
|
APN |
19 |
39,296,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01350:Cyp2c29
|
APN |
19 |
39,318,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01455:Cyp2c29
|
APN |
19 |
39,317,561 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01718:Cyp2c29
|
APN |
19 |
39,318,704 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL01977:Cyp2c29
|
APN |
19 |
39,279,341 (GRCm39) |
splice site |
probably benign |
|
|
IGL01991:Cyp2c29
|
APN |
19 |
39,318,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02097:Cyp2c29
|
APN |
19 |
39,296,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02267:Cyp2c29
|
APN |
19 |
39,318,866 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02451:Cyp2c29
|
APN |
19 |
39,279,291 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02452:Cyp2c29
|
APN |
19 |
39,279,291 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02548:Cyp2c29
|
APN |
19 |
39,279,291 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02549:Cyp2c29
|
APN |
19 |
39,298,229 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02938:Cyp2c29
|
APN |
19 |
39,275,567 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03252:Cyp2c29
|
APN |
19 |
39,275,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03367:Cyp2c29
|
APN |
19 |
39,317,659 (GRCm39) |
missense |
probably damaging |
0.97 |
|
H8562:Cyp2c29
|
UTSW |
19 |
39,298,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03052:Cyp2c29
|
UTSW |
19 |
39,275,662 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0415:Cyp2c29
|
UTSW |
19 |
39,317,539 (GRCm39) |
splice site |
probably benign |
|
|
R0504:Cyp2c29
|
UTSW |
19 |
39,298,224 (GRCm39) |
missense |
probably benign |
0.29 |
|
R0690:Cyp2c29
|
UTSW |
19 |
39,298,170 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1531:Cyp2c29
|
UTSW |
19 |
39,313,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1730:Cyp2c29
|
UTSW |
19 |
39,313,389 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1981:Cyp2c29
|
UTSW |
19 |
39,296,216 (GRCm39) |
splice site |
probably null |
|
|
R2113:Cyp2c29
|
UTSW |
19 |
39,318,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2220:Cyp2c29
|
UTSW |
19 |
39,275,676 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3873:Cyp2c29
|
UTSW |
19 |
39,317,588 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4424:Cyp2c29
|
UTSW |
19 |
39,275,620 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4451:Cyp2c29
|
UTSW |
19 |
39,279,270 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4803:Cyp2c29
|
UTSW |
19 |
39,313,439 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5288:Cyp2c29
|
UTSW |
19 |
39,318,816 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5474:Cyp2c29
|
UTSW |
19 |
39,313,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5475:Cyp2c29
|
UTSW |
19 |
39,318,731 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5893:Cyp2c29
|
UTSW |
19 |
39,318,833 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6000:Cyp2c29
|
UTSW |
19 |
39,296,050 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6144:Cyp2c29
|
UTSW |
19 |
39,310,053 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6296:Cyp2c29
|
UTSW |
19 |
39,318,705 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6365:Cyp2c29
|
UTSW |
19 |
39,296,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6449:Cyp2c29
|
UTSW |
19 |
39,279,311 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6464:Cyp2c29
|
UTSW |
19 |
39,317,669 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6919:Cyp2c29
|
UTSW |
19 |
39,279,585 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6978:Cyp2c29
|
UTSW |
19 |
39,310,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7038:Cyp2c29
|
UTSW |
19 |
39,275,571 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7040:Cyp2c29
|
UTSW |
19 |
39,318,781 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7391:Cyp2c29
|
UTSW |
19 |
39,296,211 (GRCm39) |
missense |
probably null |
0.98 |
|
R8712:Cyp2c29
|
UTSW |
19 |
39,310,138 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R8863:Cyp2c29
|
UTSW |
19 |
39,261,810 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9468:Cyp2c29
|
UTSW |
19 |
39,296,166 (GRCm39) |
missense |
probably benign |
0.07 |
|
X0024:Cyp2c29
|
UTSW |
19 |
39,310,043 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Cyp2c29
|
UTSW |
19 |
39,313,441 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTGTGTCAGTTACAAGTACAATG -3'
(R):5'- CCAGAAACTGTATGTGTTTGCTG -3'
Sequencing Primer
(F):5'- TCAGTTACAAGTACAATGATTCACAC -3'
(R):5'- TGCTGGGTCTTGAGAGAAGAG -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation