Incidental Mutation 'R9468:Cyp2c29'
| ID |
715315 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.116)
|
| Stock # |
R9468 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
39275541-39319157 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 39296166 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 199
(D199V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003137
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003137]
[ENSMUST00000176624]
[ENSMUST00000177087]
|
| AlphaFold |
Q64458 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003137
AA Change: D199V
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000003137
Gene: ENSMUSG00000003053
AA Change: D199V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
19 |
N/A |
INTRINSIC |
|
Pfam:p450
|
30 |
487 |
5.4e-165 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176624
AA Change: D160V
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000135863
Gene: ENSMUSG00000003053
AA Change: D160V
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930558K02Rik |
T |
A |
1: 161,784,736 (GRCm39) |
N68Y |
probably damaging |
Het |
| Acsf3 |
A |
T |
8: 123,539,769 (GRCm39) |
I466F |
probably damaging |
Het |
| Akr1b7 |
T |
C |
6: 34,392,316 (GRCm39) |
I43T |
probably benign |
Het |
| Alyref |
T |
A |
11: 120,486,790 (GRCm39) |
D157V |
probably damaging |
Het |
| Anapc2 |
T |
C |
2: 25,163,132 (GRCm39) |
L123P |
possibly damaging |
Het |
| Catsperg2 |
A |
T |
7: 29,409,432 (GRCm39) |
|
probably null |
Het |
| Ccz1 |
G |
T |
5: 143,929,438 (GRCm39) |
T330K |
probably benign |
Het |
| Chordc1 |
T |
A |
9: 18,213,425 (GRCm39) |
F92Y |
probably benign |
Het |
| Cyp2c70 |
A |
G |
19: 40,168,889 (GRCm39) |
S133P |
probably damaging |
Het |
| Dync1li2 |
G |
A |
8: 105,147,258 (GRCm39) |
P479S |
probably benign |
Het |
| Fcmr |
G |
T |
1: 130,801,951 (GRCm39) |
K68N |
possibly damaging |
Het |
| Frmpd2 |
T |
A |
14: 33,266,432 (GRCm39) |
D949E |
possibly damaging |
Het |
| Fscn2 |
A |
G |
11: 120,253,283 (GRCm39) |
E250G |
probably damaging |
Het |
| Grk2 |
A |
T |
19: 4,344,952 (GRCm39) |
I39N |
probably damaging |
Het |
| Hmmr |
T |
A |
11: 40,614,314 (GRCm39) |
R125* |
probably null |
Het |
| Jarid2 |
T |
A |
13: 45,073,306 (GRCm39) |
C1195S |
probably damaging |
Het |
| Kcnq4 |
A |
T |
4: 120,568,494 (GRCm39) |
D407E |
probably benign |
Het |
| Kif24 |
A |
T |
4: 41,404,794 (GRCm39) |
I402N |
probably damaging |
Het |
| Kmt2b |
A |
G |
7: 30,284,513 (GRCm39) |
V793A |
probably damaging |
Het |
| Kntc1 |
T |
C |
5: 123,954,776 (GRCm39) |
Y2065H |
probably damaging |
Het |
| Krt5 |
C |
A |
15: 101,615,980 (GRCm39) |
S545I |
unknown |
Het |
| Larp1b |
A |
T |
3: 40,930,990 (GRCm39) |
I290L |
probably benign |
Het |
| Lnx2 |
C |
T |
5: 146,979,289 (GRCm39) |
|
probably benign |
Het |
| Lonrf2 |
A |
G |
1: 38,839,839 (GRCm39) |
S419P |
probably damaging |
Het |
| Lrrc19 |
A |
T |
4: 94,526,521 (GRCm39) |
D345E |
probably benign |
Het |
| Micu3 |
T |
A |
8: 40,807,422 (GRCm39) |
L251* |
probably null |
Het |
| Mucl1 |
G |
T |
15: 103,784,035 (GRCm39) |
T57N |
possibly damaging |
Het |
| Myh8 |
C |
T |
11: 67,197,730 (GRCm39) |
R1866W |
probably damaging |
Het |
| Ndc80 |
G |
A |
17: 71,806,306 (GRCm39) |
Q583* |
probably null |
Het |
| Nrap |
G |
A |
19: 56,330,632 (GRCm39) |
T1143I |
possibly damaging |
Het |
| Nrde2 |
A |
G |
12: 100,106,268 (GRCm39) |
V523A |
probably benign |
Het |
| Or12e9 |
T |
A |
2: 87,202,116 (GRCm39) |
V80E |
probably damaging |
Het |
| Or2at4 |
A |
T |
7: 99,385,180 (GRCm39) |
I277F |
possibly damaging |
Het |
| Or4c11 |
C |
T |
2: 88,695,795 (GRCm39) |
P282L |
possibly damaging |
Het |
| Or5p70 |
C |
T |
7: 107,994,849 (GRCm39) |
P174L |
possibly damaging |
Het |
| Pcdhb16 |
T |
A |
18: 37,611,482 (GRCm39) |
S147R |
probably damaging |
Het |
| Phf21b |
T |
C |
15: 84,689,299 (GRCm39) |
T76A |
probably damaging |
Het |
| Pknox2 |
A |
G |
9: 36,822,495 (GRCm39) |
V218A |
probably benign |
Het |
| Plekhg3 |
C |
T |
12: 76,607,009 (GRCm39) |
T23I |
probably damaging |
Het |
| Ptprb |
A |
G |
10: 116,113,274 (GRCm39) |
T85A |
probably benign |
Het |
| Ptprc |
A |
G |
1: 138,044,754 (GRCm39) |
L36P |
probably benign |
Het |
| Rasgrf1 |
A |
G |
9: 89,880,756 (GRCm39) |
Q834R |
probably benign |
Het |
| Rnft1 |
G |
A |
11: 86,381,242 (GRCm39) |
V211I |
probably benign |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,127 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
G |
A |
7: 28,772,510 (GRCm39) |
L2468F |
probably damaging |
Het |
| Scaf4 |
C |
T |
16: 90,026,287 (GRCm39) |
A1177T |
unknown |
Het |
| Sec14l3 |
A |
G |
11: 4,025,200 (GRCm39) |
Y270C |
probably damaging |
Het |
| Serpind1 |
A |
T |
16: 17,154,179 (GRCm39) |
K2I |
possibly damaging |
Het |
| Slc6a20b |
A |
G |
9: 123,439,416 (GRCm39) |
S138P |
probably damaging |
Het |
| Son |
T |
A |
16: 91,454,439 (GRCm39) |
M1062K |
possibly damaging |
Het |
| Sorl1 |
T |
C |
9: 42,035,384 (GRCm39) |
E9G |
probably benign |
Het |
| Spmip9 |
T |
C |
6: 70,890,627 (GRCm39) |
Q55R |
probably benign |
Het |
| Stx16 |
T |
C |
2: 173,933,327 (GRCm39) |
L102P |
probably damaging |
Het |
| Syt12 |
A |
T |
19: 4,497,744 (GRCm39) |
S413T |
probably damaging |
Het |
| Tie1 |
A |
G |
4: 118,333,376 (GRCm39) |
L830P |
probably damaging |
Het |
| Tmem156 |
C |
T |
5: 65,237,531 (GRCm39) |
R43K |
probably damaging |
Het |
| Tnfrsf19 |
A |
G |
14: 61,261,623 (GRCm39) |
S59P |
possibly damaging |
Het |
| Tpk1 |
T |
C |
6: 43,536,901 (GRCm39) |
D54G |
probably benign |
Het |
| Trim39 |
G |
T |
17: 36,571,492 (GRCm39) |
T422K |
probably benign |
Het |
| Ttn |
T |
G |
2: 76,536,112 (GRCm39) |
E35082A |
|
Het |
| Vac14 |
T |
A |
8: 111,397,738 (GRCm39) |
D484E |
probably benign |
Het |
| Vmn1r158 |
G |
T |
7: 22,489,888 (GRCm39) |
T107N |
probably damaging |
Het |
| Vmn1r51 |
T |
A |
6: 90,106,930 (GRCm39) |
I282N |
probably damaging |
Het |
| Vps26a |
A |
T |
10: 62,300,516 (GRCm39) |
Y217N |
probably damaging |
Het |
| Zfp942 |
G |
A |
17: 22,148,422 (GRCm39) |
T69I |
probably benign |
Het |
| Zmym4 |
A |
G |
4: 126,800,993 (GRCm39) |
S536P |
probably benign |
Het |
| Znrf3 |
A |
G |
11: 5,288,696 (GRCm39) |
V24A |
probably damaging |
Het |
| Zranb3 |
A |
G |
1: 127,891,496 (GRCm39) |
|
probably null |
Het |
| Zzef1 |
T |
C |
11: 72,814,009 (GRCm39) |
|
probably null |
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 |
|
R5894: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 |
|
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'- CACCTCAAGTTTAAGATCGAAGTG -3'
(R):5'- GAGGACTCCCTTCCAGATATTC -3'
Sequencing Primer
(F):5'- CTTAGCTGTTAGGAAAATTGTAGGC -3'
(R):5'- CTTTCCATAATATACTGTCCAGAACC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation