Incidental Mutation 'R7983:Cyp4a29'
ID |
651307 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp4a29
|
Ensembl Gene |
ENSMUSG00000083138 |
Gene Name |
cytochrome P450, family 4, subfamily a, polypeptide 29 |
Synonyms |
Cyp4a29-ps |
MMRRC Submission |
046024-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R7983 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
115099281-115111754 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 115108099 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 307
(D307V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139717
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118278]
|
AlphaFold |
A0A087WPC3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000118278
AA Change: D307V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139717 Gene: ENSMUSG00000083138 AA Change: D307V
Domain | Start | End | E-Value | Type |
transmembrane domain
|
9 |
31 |
N/A |
INTRINSIC |
Pfam:p450
|
51 |
504 |
1.1e-127 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
95% (39/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Casd1 |
G |
T |
6: 4,624,472 (GRCm39) |
E422* |
probably null |
Het |
Ccdc7a |
T |
C |
8: 129,607,559 (GRCm39) |
T1007A |
possibly damaging |
Het |
Cdr1 |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
X: 60,228,130 (GRCm39) |
|
probably benign |
Het |
Cds2 |
T |
G |
2: 132,105,430 (GRCm39) |
|
probably null |
Het |
Cfap100 |
G |
A |
6: 90,392,687 (GRCm39) |
T141I |
|
Het |
Chd7 |
T |
A |
4: 8,752,628 (GRCm39) |
M375K |
unknown |
Het |
Chd7 |
T |
A |
4: 8,844,609 (GRCm39) |
S1573T |
possibly damaging |
Het |
Cplane1 |
T |
A |
15: 8,251,299 (GRCm39) |
V1857E |
probably benign |
Het |
Crybb2 |
T |
C |
5: 113,209,946 (GRCm39) |
E139G |
probably benign |
Het |
Csn2 |
T |
C |
5: 87,842,356 (GRCm39) |
T224A |
probably benign |
Het |
Csnk2b |
T |
C |
17: 35,335,304 (GRCm39) |
H231R |
possibly damaging |
Het |
Cthrc1 |
A |
G |
15: 38,940,550 (GRCm39) |
D51G |
probably benign |
Het |
Cyp2a5 |
A |
T |
7: 26,539,866 (GRCm39) |
T305S |
probably benign |
Het |
Dhrs7b |
T |
C |
11: 60,743,287 (GRCm39) |
V188A |
possibly damaging |
Het |
Dna2 |
A |
G |
10: 62,791,173 (GRCm39) |
D224G |
probably benign |
Het |
Dnah7b |
T |
A |
1: 46,282,584 (GRCm39) |
L2906M |
probably damaging |
Het |
Eif4g3 |
A |
T |
4: 137,878,904 (GRCm39) |
E545D |
probably benign |
Het |
Foxq1 |
T |
C |
13: 31,743,972 (GRCm39) |
F358S |
possibly damaging |
Het |
Galnt16 |
C |
T |
12: 80,648,598 (GRCm39) |
H557Y |
probably benign |
Het |
Kcnb2 |
T |
C |
1: 15,383,004 (GRCm39) |
M110T |
probably damaging |
Het |
Ldlrad4 |
G |
T |
18: 68,368,740 (GRCm39) |
A66S |
possibly damaging |
Het |
Nalcn |
T |
C |
14: 123,830,409 (GRCm39) |
I144V |
probably benign |
Het |
Napsa |
T |
A |
7: 44,234,751 (GRCm39) |
N295K |
possibly damaging |
Het |
Nup50l |
C |
A |
6: 96,142,888 (GRCm39) |
G52V |
probably damaging |
Het |
Or2ag20 |
T |
C |
7: 106,464,958 (GRCm39) |
V257A |
probably benign |
Het |
Or5k1b |
G |
A |
16: 58,581,377 (GRCm39) |
S54F |
probably benign |
Het |
Plch1 |
T |
C |
3: 63,615,164 (GRCm39) |
D778G |
probably damaging |
Het |
Pnlip |
G |
A |
19: 58,668,491 (GRCm39) |
V361I |
probably benign |
Het |
Pou4f2 |
G |
T |
8: 79,161,568 (GRCm39) |
A345E |
probably benign |
Het |
Prr11 |
C |
T |
11: 86,982,637 (GRCm39) |
D365N |
possibly damaging |
Het |
Ptprq |
G |
T |
10: 107,444,272 (GRCm39) |
S1444* |
probably null |
Het |
R3hdm4 |
A |
T |
10: 79,748,557 (GRCm39) |
V129E |
probably damaging |
Het |
Retnlg |
T |
C |
16: 48,693,261 (GRCm39) |
S13P |
probably damaging |
Het |
Rgmb |
T |
C |
17: 16,041,189 (GRCm39) |
T133A |
possibly damaging |
Het |
Rin3 |
A |
C |
12: 102,335,418 (GRCm39) |
H443P |
probably benign |
Het |
Rnf152 |
T |
C |
1: 105,212,089 (GRCm39) |
D156G |
probably benign |
Het |
Sfmbt1 |
A |
G |
14: 30,519,673 (GRCm39) |
|
probably null |
Het |
Slc25a46 |
G |
A |
18: 31,716,483 (GRCm39) |
R340C |
probably damaging |
Het |
Sp4 |
A |
T |
12: 118,264,967 (GRCm39) |
M1K |
probably null |
Het |
Ss18l2 |
T |
C |
9: 121,541,675 (GRCm39) |
I64T |
probably damaging |
Het |
Sult2a4 |
G |
A |
7: 13,649,152 (GRCm39) |
S219F |
probably damaging |
Het |
Tnip3 |
A |
C |
6: 65,515,630 (GRCm39) |
D25A |
probably damaging |
Het |
Trac |
A |
G |
14: 54,458,214 (GRCm39) |
T79A |
|
Het |
Vmn2r36 |
A |
G |
7: 7,905,415 (GRCm39) |
L16P |
probably damaging |
Het |
Zswim2 |
A |
G |
2: 83,753,911 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Cyp4a29 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02687:Cyp4a29
|
APN |
4 |
115,108,397 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03224:Cyp4a29
|
APN |
4 |
115,104,247 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03271:Cyp4a29
|
APN |
4 |
115,111,705 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03387:Cyp4a29
|
APN |
4 |
115,108,368 (GRCm39) |
missense |
possibly damaging |
0.70 |
R0304:Cyp4a29
|
UTSW |
4 |
115,110,129 (GRCm39) |
splice site |
probably benign |
|
R2656:Cyp4a29
|
UTSW |
4 |
115,106,921 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4012:Cyp4a29
|
UTSW |
4 |
115,105,707 (GRCm39) |
missense |
probably benign |
|
R4834:Cyp4a29
|
UTSW |
4 |
115,106,867 (GRCm39) |
missense |
probably benign |
0.00 |
R4856:Cyp4a29
|
UTSW |
4 |
115,110,078 (GRCm39) |
missense |
probably benign |
|
R4886:Cyp4a29
|
UTSW |
4 |
115,110,078 (GRCm39) |
missense |
probably benign |
|
R4939:Cyp4a29
|
UTSW |
4 |
115,104,873 (GRCm39) |
critical splice donor site |
probably null |
|
R4967:Cyp4a29
|
UTSW |
4 |
115,104,196 (GRCm39) |
missense |
probably benign |
0.00 |
R5071:Cyp4a29
|
UTSW |
4 |
115,104,860 (GRCm39) |
missense |
probably benign |
0.00 |
R5072:Cyp4a29
|
UTSW |
4 |
115,104,860 (GRCm39) |
missense |
probably benign |
0.00 |
R5073:Cyp4a29
|
UTSW |
4 |
115,104,860 (GRCm39) |
missense |
probably benign |
0.00 |
R5620:Cyp4a29
|
UTSW |
4 |
115,108,088 (GRCm39) |
missense |
probably benign |
0.12 |
R5818:Cyp4a29
|
UTSW |
4 |
115,104,229 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6219:Cyp4a29
|
UTSW |
4 |
115,106,927 (GRCm39) |
missense |
probably damaging |
0.99 |
R6318:Cyp4a29
|
UTSW |
4 |
115,107,396 (GRCm39) |
missense |
probably benign |
0.00 |
R6386:Cyp4a29
|
UTSW |
4 |
115,104,272 (GRCm39) |
critical splice donor site |
probably null |
|
R6456:Cyp4a29
|
UTSW |
4 |
115,108,381 (GRCm39) |
missense |
probably benign |
0.30 |
R7393:Cyp4a29
|
UTSW |
4 |
115,099,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R7443:Cyp4a29
|
UTSW |
4 |
115,105,756 (GRCm39) |
missense |
probably damaging |
1.00 |
R7719:Cyp4a29
|
UTSW |
4 |
115,108,137 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7831:Cyp4a29
|
UTSW |
4 |
115,107,367 (GRCm39) |
missense |
probably benign |
0.00 |
R8304:Cyp4a29
|
UTSW |
4 |
115,111,653 (GRCm39) |
missense |
probably damaging |
1.00 |
R8674:Cyp4a29
|
UTSW |
4 |
115,106,882 (GRCm39) |
missense |
probably benign |
0.08 |
R9109:Cyp4a29
|
UTSW |
4 |
115,108,395 (GRCm39) |
missense |
probably damaging |
1.00 |
R9298:Cyp4a29
|
UTSW |
4 |
115,108,395 (GRCm39) |
missense |
probably damaging |
1.00 |
R9486:Cyp4a29
|
UTSW |
4 |
115,106,916 (GRCm39) |
missense |
probably damaging |
1.00 |
R9601:Cyp4a29
|
UTSW |
4 |
115,105,772 (GRCm39) |
missense |
probably damaging |
0.98 |
R9667:Cyp4a29
|
UTSW |
4 |
115,111,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R9790:Cyp4a29
|
UTSW |
4 |
115,108,380 (GRCm39) |
missense |
probably damaging |
1.00 |
R9791:Cyp4a29
|
UTSW |
4 |
115,108,380 (GRCm39) |
missense |
probably damaging |
1.00 |
U24488:Cyp4a29
|
UTSW |
4 |
115,108,204 (GRCm39) |
missense |
possibly damaging |
0.95 |
Z1088:Cyp4a29
|
UTSW |
4 |
115,105,693 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGCTCAGCTACAGGACAAC -3'
(R):5'- AGACTCCCTATTACAAGACAGTG -3'
Sequencing Primer
(F):5'- GGCTCAGCTACAGGACAACAAATC -3'
(R):5'- GGATGTGTAGCCAAAGCA -3'
|
Posted On |
2020-09-15 |