Incidental Mutation 'R6000:Cyp2c29'
ID |
480815 |
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 |
044179-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.116)
|
Stock # |
R6000 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
39275541-39319157 bp(+) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
A to G
at 39296050 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135863
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003137]
[ENSMUST00000176624]
[ENSMUST00000177087]
|
AlphaFold |
Q64458 |
Predicted Effect |
probably null
Transcript: ENSMUST00000003137
|
SMART Domains |
Protein: ENSMUSP00000003137 Gene: ENSMUSG00000003053
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 null
Transcript: ENSMUST00000176624
|
SMART Domains |
Protein: ENSMUSP00000135863 Gene: ENSMUSG00000003053
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 |
0.9361 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.7%
|
Validation Efficiency |
100% (64/64) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310034C09Rik |
T |
C |
16: 88,556,427 (GRCm39) |
C214R |
possibly damaging |
Het |
Ahnak |
A |
T |
19: 8,990,475 (GRCm39) |
K3920* |
probably null |
Het |
Alox12b |
A |
G |
11: 69,060,394 (GRCm39) |
D650G |
probably damaging |
Het |
Amt |
A |
T |
9: 108,178,684 (GRCm39) |
Y400F |
probably benign |
Het |
Ankrd11 |
A |
G |
8: 123,617,934 (GRCm39) |
S1973P |
possibly damaging |
Het |
Aoc1 |
A |
T |
6: 48,884,573 (GRCm39) |
T539S |
probably benign |
Het |
Arhgap44 |
CTGCT |
CTGCTTGCT |
11: 64,922,910 (GRCm39) |
|
probably null |
Het |
Ccdc15 |
C |
T |
9: 37,227,060 (GRCm39) |
G292S |
probably benign |
Het |
Ccdc162 |
C |
T |
10: 41,437,159 (GRCm39) |
C287Y |
possibly damaging |
Het |
Ccn6 |
T |
C |
10: 39,034,296 (GRCm39) |
Y102C |
probably damaging |
Het |
Cdk15 |
G |
A |
1: 59,328,818 (GRCm39) |
G244D |
probably damaging |
Het |
Cep290 |
T |
A |
10: 100,377,649 (GRCm39) |
Y1560N |
probably damaging |
Het |
Cfap251 |
A |
G |
5: 123,392,435 (GRCm39) |
|
probably benign |
Het |
Cic |
A |
C |
7: 24,971,423 (GRCm39) |
I385L |
probably benign |
Het |
Cobl |
A |
T |
11: 12,319,684 (GRCm39) |
F231L |
probably benign |
Het |
Cpeb1 |
T |
C |
7: 81,011,428 (GRCm39) |
D171G |
possibly damaging |
Het |
Csnk1g2 |
T |
A |
10: 80,474,778 (GRCm39) |
V305E |
probably damaging |
Het |
Dner |
A |
T |
1: 84,361,650 (GRCm39) |
M653K |
possibly damaging |
Het |
Dst |
T |
A |
1: 34,251,304 (GRCm39) |
M4311K |
possibly damaging |
Het |
Ep400 |
A |
G |
5: 110,831,067 (GRCm39) |
S2200P |
unknown |
Het |
Ephb2 |
A |
T |
4: 136,411,341 (GRCm39) |
S440T |
possibly damaging |
Het |
Ercc1 |
A |
T |
7: 19,081,086 (GRCm39) |
|
probably benign |
Het |
Folh1 |
T |
A |
7: 86,375,142 (GRCm39) |
N615Y |
probably benign |
Het |
Gm7298 |
T |
C |
6: 121,742,038 (GRCm39) |
Y487H |
possibly damaging |
Het |
Gucy1b2 |
A |
T |
14: 62,656,499 (GRCm39) |
I286N |
probably benign |
Het |
Hr |
A |
G |
14: 70,805,273 (GRCm39) |
D1005G |
probably damaging |
Het |
Ifrd1 |
C |
A |
12: 40,266,243 (GRCm39) |
V117F |
possibly damaging |
Het |
Ift140 |
A |
T |
17: 25,255,934 (GRCm39) |
T210S |
probably benign |
Het |
Igll1 |
C |
A |
16: 16,681,805 (GRCm39) |
|
probably benign |
Het |
Ino80 |
G |
T |
2: 119,204,989 (GRCm39) |
S1512R |
probably benign |
Het |
Intu |
A |
T |
3: 40,608,578 (GRCm39) |
K197* |
probably null |
Het |
Kdm6b |
A |
G |
11: 69,294,424 (GRCm39) |
L1216P |
unknown |
Het |
Klrb1c |
T |
G |
6: 128,761,120 (GRCm39) |
D169A |
probably damaging |
Het |
Lamp3 |
T |
A |
16: 19,519,698 (GRCm39) |
T162S |
possibly damaging |
Het |
Mapk10 |
G |
A |
5: 103,114,342 (GRCm39) |
P319S |
probably damaging |
Het |
Mapk10 |
G |
A |
5: 103,114,341 (GRCm39) |
P319L |
probably damaging |
Het |
Mical3 |
T |
C |
6: 120,998,281 (GRCm39) |
T702A |
probably benign |
Het |
Mstn |
C |
T |
1: 53,100,828 (GRCm39) |
|
probably benign |
Het |
Nckap1l |
T |
C |
15: 103,387,242 (GRCm39) |
S706P |
probably benign |
Het |
Nckap5l |
G |
A |
15: 99,324,766 (GRCm39) |
T579I |
probably damaging |
Het |
Or13p3 |
A |
T |
4: 118,567,441 (GRCm39) |
N279I |
probably damaging |
Het |
Or4a27 |
C |
A |
2: 88,559,575 (GRCm39) |
A123S |
probably damaging |
Het |
Or8s16 |
G |
A |
15: 98,211,317 (GRCm39) |
T38I |
probably benign |
Het |
Pcdh18 |
A |
C |
3: 49,708,913 (GRCm39) |
S801A |
probably damaging |
Het |
Pde11a |
A |
T |
2: 75,848,204 (GRCm39) |
D874E |
probably damaging |
Het |
Pfdn6 |
G |
T |
17: 34,158,589 (GRCm39) |
P62T |
probably damaging |
Het |
Pkd1l1 |
A |
G |
11: 8,900,427 (GRCm39) |
I38T |
probably benign |
Het |
Prkdc |
A |
T |
16: 15,647,561 (GRCm39) |
I3662F |
possibly damaging |
Het |
Psg26 |
A |
T |
7: 18,216,617 (GRCm39) |
L74* |
probably null |
Het |
Rassf6 |
A |
G |
5: 90,751,736 (GRCm39) |
V341A |
probably damaging |
Het |
Rsad2 |
C |
A |
12: 26,497,150 (GRCm39) |
|
probably null |
Het |
Rwdd3 |
A |
G |
3: 120,950,162 (GRCm39) |
Y95H |
probably damaging |
Het |
Scfd1 |
A |
G |
12: 51,492,457 (GRCm39) |
I589V |
possibly damaging |
Het |
Sgsm1 |
A |
T |
5: 113,434,704 (GRCm39) |
I131N |
probably damaging |
Het |
Tecpr1 |
A |
G |
5: 144,148,239 (GRCm39) |
S389P |
probably benign |
Het |
Tle3 |
T |
A |
9: 61,281,296 (GRCm39) |
I29N |
probably damaging |
Het |
Tmem63c |
C |
A |
12: 87,103,971 (GRCm39) |
N73K |
probably damaging |
Het |
Tpm2 |
T |
A |
4: 43,518,301 (GRCm39) |
|
probably null |
Het |
Trak2 |
A |
T |
1: 58,950,971 (GRCm39) |
D405E |
possibly damaging |
Het |
Ttn |
C |
A |
2: 76,575,516 (GRCm39) |
A23380S |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,715,495 (GRCm39) |
|
probably benign |
Het |
Tub |
T |
C |
7: 108,628,857 (GRCm39) |
S391P |
probably damaging |
Het |
Ush2a |
G |
T |
1: 187,999,223 (GRCm39) |
E178* |
probably null |
Het |
Vamp9 |
G |
T |
5: 100,089,226 (GRCm39) |
A164S |
probably benign |
Het |
Ylpm1 |
C |
A |
12: 85,044,030 (GRCm39) |
T256K |
unknown |
Het |
Zfp1007 |
A |
G |
5: 109,824,730 (GRCm39) |
V240A |
probably benign |
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 |
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'- CACCTCAAGTTTAAGATCGAAGTG -3'
(R):5'- CCAGAACCAAGGTGTCTTGTCAC -3'
Sequencing Primer
(F):5'- CTGTTAGGAAAATTGTAGGCAA -3'
(R):5'- GGAAAAATTTCTTGACTTCACCTGC -3'
|
Posted On |
2017-06-26 |