Incidental Mutation 'R3730:Cyp3a25'
| ID |
270925 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp3a25
|
| Ensembl Gene |
ENSMUSG00000029630 |
| Gene Name |
cytochrome P450, family 3, subfamily a, polypeptide 25 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R3730 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
145914004-145946428 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 145939891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 39
(P39S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065585
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068317]
[ENSMUST00000138870]
[ENSMUST00000145062]
|
| AlphaFold |
O09158 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068317
AA Change: P39S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065585
Gene: ENSMUSG00000029630
AA Change: P39S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
38 |
493 |
9.4e-129 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000138870
AA Change: P39S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000116077
Gene: ENSMUSG00000029630
AA Change: P39S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
38 |
126 |
2e-13 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000145062
AA Change: P39S
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000123615
Gene: ENSMUSG00000029630
AA Change: P39S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
38 |
148 |
3.9e-21 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 90.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
A |
G |
1: 11,615,450 (GRCm39) |
N141S |
probably damaging |
Het |
| Acbd6 |
T |
A |
1: 155,434,471 (GRCm39) |
S30T |
probably benign |
Het |
| Acot12 |
T |
A |
13: 91,908,145 (GRCm39) |
F109Y |
possibly damaging |
Het |
| Adamts19 |
G |
A |
18: 59,033,982 (GRCm39) |
R319Q |
probably damaging |
Het |
| Akap1 |
T |
C |
11: 88,736,008 (GRCm39) |
E218G |
possibly damaging |
Het |
| Atg4b |
T |
A |
1: 93,695,997 (GRCm39) |
D45E |
probably damaging |
Het |
| Atoh1 |
A |
G |
6: 64,706,557 (GRCm39) |
E84G |
probably benign |
Het |
| Cemip2 |
A |
G |
19: 21,803,481 (GRCm39) |
Y838C |
probably damaging |
Het |
| Cfap251 |
A |
T |
5: 123,464,631 (GRCm39) |
I1280L |
possibly damaging |
Het |
| Cfap54 |
A |
T |
10: 92,847,335 (GRCm39) |
Y951* |
probably null |
Het |
| Col4a4 |
T |
A |
1: 82,433,472 (GRCm39) |
|
probably null |
Het |
| Crlf1 |
A |
G |
8: 70,952,092 (GRCm39) |
T95A |
probably benign |
Het |
| Dhx9 |
C |
A |
1: 153,353,866 (GRCm39) |
A186S |
probably benign |
Het |
| Dusp16 |
A |
G |
6: 134,695,824 (GRCm39) |
S336P |
probably benign |
Het |
| Fcgbp |
T |
C |
7: 27,784,882 (GRCm39) |
V314A |
possibly damaging |
Het |
| Focad |
T |
C |
4: 88,327,162 (GRCm39) |
I157T |
possibly damaging |
Het |
| Frem3 |
A |
T |
8: 81,342,545 (GRCm39) |
T1613S |
probably damaging |
Het |
| Fshr |
C |
T |
17: 89,309,143 (GRCm39) |
V222I |
probably benign |
Het |
| Galnt13 |
A |
G |
2: 54,823,519 (GRCm39) |
N365S |
possibly damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Ice1 |
A |
T |
13: 70,751,359 (GRCm39) |
S1576T |
probably damaging |
Het |
| Ighv1-19 |
C |
A |
12: 114,672,497 (GRCm39) |
C40F |
probably damaging |
Het |
| Itga8 |
T |
C |
2: 12,198,321 (GRCm39) |
T555A |
possibly damaging |
Het |
| Kctd5 |
T |
C |
17: 24,278,212 (GRCm39) |
D146G |
probably benign |
Het |
| Ktn1 |
A |
G |
14: 47,938,606 (GRCm39) |
E766G |
probably damaging |
Het |
| Ldlr |
C |
G |
9: 21,643,097 (GRCm39) |
A41G |
probably benign |
Het |
| Lrp2 |
G |
A |
2: 69,294,923 (GRCm39) |
P3465L |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,365,251 (GRCm39) |
|
probably null |
Het |
| Mapk11 |
G |
A |
15: 89,029,318 (GRCm39) |
A248V |
probably benign |
Het |
| Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Npr2 |
T |
C |
4: 43,640,999 (GRCm39) |
S402P |
possibly damaging |
Het |
| Olfm2 |
T |
C |
9: 20,584,063 (GRCm39) |
N76D |
probably damaging |
Het |
| Or7g33 |
T |
A |
9: 19,448,447 (GRCm39) |
I260F |
probably benign |
Het |
| Or8k3 |
A |
G |
2: 86,059,195 (GRCm39) |
I40T |
probably benign |
Het |
| Pias4 |
A |
T |
10: 80,999,888 (GRCm39) |
F55Y |
probably damaging |
Het |
| Rgs12 |
G |
A |
5: 35,189,595 (GRCm39) |
E658K |
probably damaging |
Het |
| Ripor3 |
C |
G |
2: 167,834,739 (GRCm39) |
E251Q |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
| Slc35e4 |
A |
G |
11: 3,862,577 (GRCm39) |
V204A |
possibly damaging |
Het |
| Syt4 |
T |
C |
18: 31,577,189 (GRCm39) |
H55R |
probably damaging |
Het |
| Trim46 |
T |
A |
3: 89,142,256 (GRCm39) |
T721S |
probably benign |
Het |
| Usf3 |
G |
T |
16: 44,038,938 (GRCm39) |
L1139F |
probably benign |
Het |
| Xrn2 |
A |
T |
2: 146,866,729 (GRCm39) |
M100L |
probably benign |
Het |
| Zbtb33 |
C |
A |
X: 37,281,822 (GRCm39) |
N243K |
probably benign |
Het |
| Zfp960 |
T |
A |
17: 17,308,633 (GRCm39) |
L449H |
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 |
|
|
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 |
|
|
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'- TTGTGAAAGAAATTGCAACTATAGGA -3'
(R):5'- TTTTATGGGAAGGACATTGGAGA -3'
Sequencing Primer
(F):5'- AAGCAGGTGGATCTCTGAATTCC -3'
(R):5'- TTGGAGAGGAGAGTAATTGGGATTG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation