Incidental Mutation 'R0725:Cyp3a25'
| ID |
218375 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp3a25
|
| Ensembl Gene |
ENSMUSG00000029630 |
| Gene Name |
cytochrome P450, family 3, subfamily a, polypeptide 25 |
| Synonyms |
|
| MMRRC Submission |
038907-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R0725 (G1)
|
| Quality Score |
48 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
145914004-145946428 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 145931746 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 121
(S121P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123615
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068317]
[ENSMUST00000138870]
[ENSMUST00000145062]
|
| AlphaFold |
O09158 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068317
AA Change: S121P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000065585
Gene: ENSMUSG00000029630
AA Change: S121P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
38 |
493 |
9.4e-129 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138870
|
| SMART Domains |
Protein: ENSMUSP00000116077
Gene: ENSMUSG00000029630
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
38 |
126 |
2e-13 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000145062
AA Change: S121P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000123615
Gene: ENSMUSG00000029630
AA Change: S121P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
38 |
148 |
3.9e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153808
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 93.7%
|
| Validation Efficiency |
100% (70/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asph |
C |
T |
4: 9,542,275 (GRCm39) |
D305N |
probably damaging |
Het |
| Atp13a3 |
T |
C |
16: 30,170,205 (GRCm39) |
K327R |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 136,026,264 (GRCm39) |
|
probably benign |
Het |
| Ccnk |
T |
C |
12: 108,161,834 (GRCm39) |
|
probably benign |
Het |
| Cep55 |
T |
C |
19: 38,048,622 (GRCm39) |
S93P |
possibly damaging |
Het |
| Cfap300 |
A |
T |
9: 8,027,144 (GRCm39) |
D131E |
probably damaging |
Het |
| Cfh |
A |
G |
1: 140,085,081 (GRCm39) |
|
probably benign |
Het |
| Clptm1l |
A |
G |
13: 73,754,462 (GRCm39) |
T129A |
probably benign |
Het |
| Cntnap5a |
A |
G |
1: 116,220,206 (GRCm39) |
E672G |
probably benign |
Het |
| Cpped1 |
C |
A |
16: 11,646,314 (GRCm39) |
W170L |
probably damaging |
Het |
| Crygb |
T |
C |
1: 65,121,100 (GRCm39) |
I76V |
probably benign |
Het |
| Cyp4b1 |
T |
C |
4: 115,484,024 (GRCm39) |
D395G |
probably damaging |
Het |
| Dll4 |
T |
C |
2: 119,163,170 (GRCm39) |
V597A |
probably damaging |
Het |
| Dock7 |
T |
C |
4: 98,833,528 (GRCm39) |
D1891G |
probably damaging |
Het |
| Dsel |
T |
C |
1: 111,787,682 (GRCm39) |
D951G |
possibly damaging |
Het |
| Dync2h1 |
C |
A |
9: 7,015,497 (GRCm39) |
V3603F |
possibly damaging |
Het |
| Fam167b |
C |
A |
4: 129,472,078 (GRCm39) |
A31S |
probably damaging |
Het |
| Fgfrl1 |
T |
A |
5: 108,852,539 (GRCm39) |
I25N |
probably damaging |
Het |
| Gzf1 |
C |
T |
2: 148,526,569 (GRCm39) |
R347* |
probably null |
Het |
| Heatr5b |
T |
A |
17: 79,103,825 (GRCm39) |
I1117F |
probably benign |
Het |
| Kntc1 |
T |
C |
5: 123,907,767 (GRCm39) |
V456A |
possibly damaging |
Het |
| Macc1 |
C |
A |
12: 119,411,251 (GRCm39) |
S673* |
probably null |
Het |
| Mpp4 |
T |
C |
1: 59,160,581 (GRCm39) |
E574G |
probably damaging |
Het |
| Muc20 |
C |
T |
16: 32,613,858 (GRCm39) |
M506I |
probably benign |
Het |
| Ncbp1 |
A |
G |
4: 46,152,056 (GRCm39) |
T218A |
probably benign |
Het |
| Nfxl1 |
A |
T |
5: 72,716,473 (GRCm39) |
V46E |
probably benign |
Het |
| Nfyc |
G |
T |
4: 120,625,931 (GRCm39) |
|
probably benign |
Het |
| Niban1 |
A |
G |
1: 151,581,766 (GRCm39) |
E454G |
probably benign |
Het |
| Or51f5 |
T |
A |
7: 102,423,739 (GRCm39) |
S3T |
probably benign |
Het |
| Or8g55 |
A |
T |
9: 39,784,643 (GRCm39) |
Q24L |
probably damaging |
Het |
| Osbpl8 |
T |
C |
10: 111,122,101 (GRCm39) |
F681S |
possibly damaging |
Het |
| Pcm1 |
G |
C |
8: 41,740,848 (GRCm39) |
E1031D |
probably damaging |
Het |
| Pdcd11 |
A |
G |
19: 47,115,730 (GRCm39) |
E1486G |
probably benign |
Het |
| Pex12 |
G |
T |
11: 83,188,860 (GRCm39) |
A45E |
probably damaging |
Het |
| Pheta1 |
T |
A |
5: 121,991,314 (GRCm39) |
H225Q |
probably benign |
Het |
| Pigm |
A |
G |
1: 172,204,384 (GRCm39) |
D40G |
probably damaging |
Het |
| Pkp1 |
G |
T |
1: 135,808,478 (GRCm39) |
N496K |
probably benign |
Het |
| Psmc4 |
T |
C |
7: 27,748,287 (GRCm39) |
I54V |
probably benign |
Het |
| Rbm33 |
T |
C |
5: 28,599,481 (GRCm39) |
V951A |
unknown |
Het |
| Selenbp2 |
G |
T |
3: 94,604,809 (GRCm39) |
|
probably benign |
Het |
| Slc3a1 |
G |
A |
17: 85,368,263 (GRCm39) |
W510* |
probably null |
Het |
| Stx12 |
A |
C |
4: 132,584,701 (GRCm39) |
|
probably benign |
Het |
| Tas2r125 |
G |
T |
6: 132,887,085 (GRCm39) |
D158Y |
probably benign |
Het |
| Tchp |
C |
A |
5: 114,857,682 (GRCm39) |
Q392K |
probably benign |
Het |
| Tmed11 |
T |
A |
5: 108,926,855 (GRCm39) |
D139V |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,578,654 (GRCm39) |
V24080M |
probably damaging |
Het |
| Ush2a |
G |
A |
1: 188,683,722 (GRCm39) |
G4967D |
probably damaging |
Het |
| Vezf1 |
T |
C |
11: 87,964,156 (GRCm39) |
S103P |
probably benign |
Het |
| Xpnpep3 |
T |
C |
15: 81,315,043 (GRCm39) |
S248P |
probably damaging |
Het |
| Yipf2 |
G |
C |
9: 21,503,519 (GRCm39) |
|
probably null |
Het |
| Zfp110 |
A |
T |
7: 12,570,290 (GRCm39) |
Q39L |
possibly damaging |
Het |
| Zfp287 |
A |
T |
11: 62,605,039 (GRCm39) |
C623S |
probably damaging |
Het |
|
| Other mutations in Cyp3a25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00091:Cyp3a25
|
APN |
5 |
145,938,273 (GRCm39) |
nonsense |
probably null |
|
|
IGL00430:Cyp3a25
|
APN |
5 |
145,930,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00803:Cyp3a25
|
APN |
5 |
145,938,253 (GRCm39) |
splice site |
probably benign |
|
|
IGL00928:Cyp3a25
|
APN |
5 |
145,923,764 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01557:Cyp3a25
|
APN |
5 |
145,921,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01997:Cyp3a25
|
APN |
5 |
145,931,766 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02140:Cyp3a25
|
APN |
5 |
145,946,273 (GRCm39) |
splice site |
probably benign |
|
|
IGL02267:Cyp3a25
|
APN |
5 |
145,935,362 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02272:Cyp3a25
|
APN |
5 |
145,930,075 (GRCm39) |
intron |
probably benign |
|
|
IGL02327:Cyp3a25
|
APN |
5 |
145,923,731 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02411:Cyp3a25
|
APN |
5 |
145,938,257 (GRCm39) |
critical splice donor site |
probably benign |
|
|
IGL02504:Cyp3a25
|
APN |
5 |
145,930,141 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02653:Cyp3a25
|
APN |
5 |
145,939,920 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0378:Cyp3a25
|
UTSW |
5 |
145,923,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0403:Cyp3a25
|
UTSW |
5 |
145,935,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0685:Cyp3a25
|
UTSW |
5 |
145,935,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0798:Cyp3a25
|
UTSW |
5 |
145,928,343 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1061:Cyp3a25
|
UTSW |
5 |
145,923,643 (GRCm39) |
missense |
probably benign |
|
|
R1519:Cyp3a25
|
UTSW |
5 |
145,938,257 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1628:Cyp3a25
|
UTSW |
5 |
145,938,273 (GRCm39) |
nonsense |
probably null |
|
|
R1822:Cyp3a25
|
UTSW |
5 |
145,921,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1824:Cyp3a25
|
UTSW |
5 |
145,921,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1864:Cyp3a25
|
UTSW |
5 |
145,931,739 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2062:Cyp3a25
|
UTSW |
5 |
145,923,779 (GRCm39) |
splice site |
probably benign |
|
|
R2401:Cyp3a25
|
UTSW |
5 |
145,923,778 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2516:Cyp3a25
|
UTSW |
5 |
145,939,837 (GRCm39) |
splice site |
probably null |
|
|
R3080:Cyp3a25
|
UTSW |
5 |
145,935,341 (GRCm39) |
missense |
probably benign |
0.33 |
|
R3236:Cyp3a25
|
UTSW |
5 |
145,939,938 (GRCm39) |
splice site |
probably benign |
|
|
R3694:Cyp3a25
|
UTSW |
5 |
145,926,786 (GRCm39) |
splice site |
probably null |
|
|
R3730:Cyp3a25
|
UTSW |
5 |
145,939,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4112:Cyp3a25
|
UTSW |
5 |
145,939,841 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4258:Cyp3a25
|
UTSW |
5 |
145,928,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4651:Cyp3a25
|
UTSW |
5 |
145,931,701 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4788:Cyp3a25
|
UTSW |
5 |
145,921,892 (GRCm39) |
nonsense |
probably null |
|
|
R4899:Cyp3a25
|
UTSW |
5 |
145,914,481 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4926:Cyp3a25
|
UTSW |
5 |
145,928,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4952:Cyp3a25
|
UTSW |
5 |
145,928,334 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5270:Cyp3a25
|
UTSW |
5 |
145,918,312 (GRCm39) |
missense |
probably benign |
0.36 |
|
R5595:Cyp3a25
|
UTSW |
5 |
145,931,673 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5659:Cyp3a25
|
UTSW |
5 |
145,928,356 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5787:Cyp3a25
|
UTSW |
5 |
145,935,313 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6307:Cyp3a25
|
UTSW |
5 |
145,931,766 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6380:Cyp3a25
|
UTSW |
5 |
145,935,357 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7055:Cyp3a25
|
UTSW |
5 |
145,929,801 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7140:Cyp3a25
|
UTSW |
5 |
145,939,855 (GRCm39) |
missense |
probably benign |
|
|
R7189:Cyp3a25
|
UTSW |
5 |
145,939,870 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7201:Cyp3a25
|
UTSW |
5 |
145,939,868 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7201:Cyp3a25
|
UTSW |
5 |
145,928,257 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7332:Cyp3a25
|
UTSW |
5 |
145,929,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7404:Cyp3a25
|
UTSW |
5 |
145,923,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7548:Cyp3a25
|
UTSW |
5 |
145,923,735 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7607:Cyp3a25
|
UTSW |
5 |
145,921,791 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8022:Cyp3a25
|
UTSW |
5 |
145,914,478 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8266:Cyp3a25
|
UTSW |
5 |
145,929,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8894:Cyp3a25
|
UTSW |
5 |
145,931,670 (GRCm39) |
splice site |
probably benign |
|
|
R9249:Cyp3a25
|
UTSW |
5 |
145,928,356 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9588:Cyp3a25
|
UTSW |
5 |
145,921,699 (GRCm39) |
missense |
probably benign |
|
|
R9691:Cyp3a25
|
UTSW |
5 |
145,931,732 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9694:Cyp3a25
|
UTSW |
5 |
145,923,685 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGATCAACCCTTGGAAAGGGACTC -3'
(R):5'- TCTGCAAATGCTTGAAAGACACTGC -3'
Sequencing Primer
(F):5'- GACTCTGGGTTTGTTTTCCAC -3'
(R):5'- CTGTGCCAGATGGATAGATATCACC -3'
|
| Posted On |
2014-08-01 |
Incidental Mutation