Incidental Mutation 'R3080:Cyp3a25'
| ID |
265375 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp3a25
|
| Ensembl Gene |
ENSMUSG00000029630 |
| Gene Name |
cytochrome P450, family 3, subfamily a, polypeptide 25 |
| Synonyms |
|
| MMRRC Submission |
040570-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R3080 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
145914004-145946428 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 145935341 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 92
(I92F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116077
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068317]
[ENSMUST00000138870]
[ENSMUST00000145062]
|
| AlphaFold |
O09158 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068317
AA Change: I92F
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000065585
Gene: ENSMUSG00000029630
AA Change: I92F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
38 |
493 |
9.4e-129 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138870
AA Change: I92F
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000116077
Gene: ENSMUSG00000029630
AA Change: I92F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
38 |
126 |
2e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145062
AA Change: I92F
PolyPhen 2
Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000123615
Gene: ENSMUSG00000029630
AA Change: I92F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
38 |
148 |
3.9e-21 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amer3 |
T |
G |
1: 34,627,503 (GRCm39) |
L581V |
probably benign |
Het |
| Anks4b |
A |
T |
7: 119,781,146 (GRCm39) |
D59V |
probably damaging |
Het |
| Cdc42bpb |
A |
G |
12: 111,262,252 (GRCm39) |
I75T |
probably damaging |
Het |
| Ces1c |
A |
C |
8: 93,846,975 (GRCm39) |
L93R |
probably damaging |
Het |
| Ciao2b |
G |
C |
8: 105,368,259 (GRCm39) |
R22G |
possibly damaging |
Het |
| Clca4a |
T |
A |
3: 144,669,551 (GRCm39) |
K333N |
probably damaging |
Het |
| Copa |
G |
T |
1: 171,940,716 (GRCm39) |
D710Y |
probably damaging |
Het |
| Dcx |
T |
A |
X: 142,706,266 (GRCm39) |
D175V |
probably damaging |
Het |
| Fam76b |
G |
A |
9: 13,744,458 (GRCm39) |
G185D |
probably benign |
Het |
| Fastkd5 |
T |
C |
2: 130,457,373 (GRCm39) |
M406V |
possibly damaging |
Het |
| Fbn2 |
G |
A |
18: 58,282,122 (GRCm39) |
S298L |
probably damaging |
Het |
| Gak |
T |
C |
5: 108,761,468 (GRCm39) |
K188E |
possibly damaging |
Het |
| Gemin2 |
G |
A |
12: 59,071,877 (GRCm39) |
C230Y |
probably damaging |
Het |
| Gm5150 |
A |
C |
3: 16,045,085 (GRCm39) |
S47A |
possibly damaging |
Het |
| H3c2 |
A |
G |
13: 23,936,481 (GRCm39) |
H40R |
possibly damaging |
Het |
| Herc3 |
A |
T |
6: 58,833,631 (GRCm39) |
|
probably null |
Het |
| Ighv5-6 |
T |
A |
12: 113,589,237 (GRCm39) |
D81V |
probably damaging |
Het |
| Igkv13-54-1 |
A |
G |
6: 69,594,454 (GRCm39) |
|
probably null |
Het |
| Itgad |
T |
C |
7: 127,784,959 (GRCm39) |
I288T |
possibly damaging |
Het |
| Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
| Ltbp3 |
GTA |
GTATA |
19: 5,806,916 (GRCm39) |
|
probably null |
Het |
| Map4k2 |
G |
A |
19: 6,403,218 (GRCm39) |
E774K |
probably damaging |
Het |
| Mbtps1 |
A |
G |
8: 120,257,944 (GRCm39) |
V431A |
probably benign |
Het |
| Mbtps1 |
T |
C |
8: 120,265,602 (GRCm39) |
D315G |
probably damaging |
Het |
| Nebl |
A |
G |
2: 17,381,462 (GRCm39) |
V738A |
possibly damaging |
Het |
| Npr3 |
G |
C |
15: 11,905,235 (GRCm39) |
T164R |
probably benign |
Het |
| Or14j4 |
T |
C |
17: 37,921,169 (GRCm39) |
T158A |
probably benign |
Het |
| Or6d14 |
T |
G |
6: 116,534,178 (GRCm39) |
V264G |
probably damaging |
Het |
| Pcdhb3 |
T |
G |
18: 37,434,535 (GRCm39) |
L167R |
probably damaging |
Het |
| Pcdhb8 |
A |
T |
18: 37,489,219 (GRCm39) |
E299V |
probably damaging |
Het |
| Shcbp1l |
A |
G |
1: 153,311,783 (GRCm39) |
E312G |
possibly damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc1a2 |
T |
G |
2: 102,578,901 (GRCm39) |
L272R |
probably damaging |
Het |
| Slc35a5 |
A |
T |
16: 44,964,758 (GRCm39) |
S152T |
probably benign |
Het |
| Tas2r136 |
C |
A |
6: 132,754,972 (GRCm39) |
V52L |
probably damaging |
Het |
| Tbr1 |
C |
T |
2: 61,637,635 (GRCm39) |
Q65* |
probably null |
Het |
| Tro |
G |
A |
X: 149,438,198 (GRCm39) |
T153I |
probably benign |
Het |
| Vmn1r222 |
A |
G |
13: 23,416,631 (GRCm39) |
M194T |
possibly damaging |
Het |
| Vmn2r1 |
A |
G |
3: 63,997,205 (GRCm39) |
D287G |
probably damaging |
Het |
| Vmn2r91 |
T |
G |
17: 18,355,973 (GRCm39) |
|
probably null |
Het |
| Zfp35 |
T |
A |
18: 24,136,367 (GRCm39) |
I237N |
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 |
|
R0725:Cyp3a25
|
UTSW |
5 |
145,931,746 (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 |
|
|
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'- AATGGTGGTGGCTCTTTACC -3'
(R):5'- GGTGCTTTATACAACTGAGGATATG -3'
Sequencing Primer
(F):5'- GCCCGCTGATCTTGATGTAGAAC -3'
(R):5'- CAACTGAGGATATGTACTGTGCATC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation