Incidental Mutation 'R7189:Cyp3a25'
| ID |
559489 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp3a25
|
| Ensembl Gene |
ENSMUSG00000029630 |
| Gene Name |
cytochrome P450, family 3, subfamily a, polypeptide 25 |
| Synonyms |
|
| MMRRC Submission |
045238-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R7189 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
145914004-145946428 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 145939870 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 46
(L46I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065585
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068317]
[ENSMUST00000138870]
[ENSMUST00000145062]
|
| AlphaFold |
O09158 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068317
AA Change: L46I
PolyPhen 2
Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000065585
Gene: ENSMUSG00000029630
AA Change: L46I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
38 |
493 |
9.4e-129 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138870
AA Change: L46I
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000116077
Gene: ENSMUSG00000029630
AA Change: L46I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
38 |
126 |
2e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145062
AA Change: L46I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000123615
Gene: ENSMUSG00000029630
AA Change: L46I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
38 |
148 |
3.9e-21 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
95% (57/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
G |
T |
2: 103,397,861 (GRCm39) |
A264S |
probably benign |
Het |
| Atosa |
T |
C |
9: 74,911,633 (GRCm39) |
C42R |
probably damaging |
Het |
| Atr |
G |
T |
9: 95,744,844 (GRCm39) |
E54* |
probably null |
Het |
| Bmp4 |
A |
G |
14: 46,621,456 (GRCm39) |
S363P |
probably damaging |
Het |
| Cfap54 |
C |
A |
10: 92,773,590 (GRCm39) |
A2077S |
unknown |
Het |
| Chrna7 |
T |
C |
7: 62,755,775 (GRCm39) |
D257G |
probably damaging |
Het |
| Chrnd |
C |
T |
1: 87,118,780 (GRCm39) |
R46W |
probably damaging |
Het |
| Cntn2 |
A |
G |
1: 132,444,824 (GRCm39) |
I851T |
probably damaging |
Het |
| Col3a1 |
T |
A |
1: 45,372,817 (GRCm39) |
I534K |
unknown |
Het |
| Dnah7b |
G |
C |
1: 46,281,302 (GRCm39) |
G2788R |
probably damaging |
Het |
| Dnpep |
T |
C |
1: 75,290,074 (GRCm39) |
E301G |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,986,690 (GRCm39) |
S30P |
probably benign |
Het |
| Elk4 |
A |
G |
1: 131,947,127 (GRCm39) |
I373V |
probably damaging |
Het |
| Fam161b |
T |
C |
12: 84,395,420 (GRCm39) |
S508G |
probably damaging |
Het |
| Fgf10 |
A |
G |
13: 118,925,659 (GRCm39) |
E146G |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,823,581 (GRCm39) |
D6438G |
possibly damaging |
Het |
| Garin2 |
C |
T |
12: 78,758,982 (GRCm39) |
P101S |
probably benign |
Het |
| Gask1b |
T |
A |
3: 79,794,114 (GRCm39) |
L194* |
probably null |
Het |
| Gm49355 |
T |
A |
14: 12,296,672 (GRCm38) |
C10* |
probably null |
Het |
| Hfm1 |
A |
G |
5: 107,049,569 (GRCm39) |
|
probably null |
Het |
| Hivep3 |
T |
C |
4: 119,989,416 (GRCm39) |
S1956P |
probably damaging |
Het |
| Hrh2 |
A |
G |
13: 54,375,270 (GRCm39) |
S369G |
unknown |
Het |
| Hspg2 |
T |
C |
4: 137,260,872 (GRCm39) |
|
probably null |
Het |
| Hsph1 |
T |
C |
5: 149,553,925 (GRCm39) |
Y181C |
probably damaging |
Het |
| Kcnh8 |
A |
G |
17: 53,201,145 (GRCm39) |
|
probably null |
Het |
| Kctd1 |
C |
T |
18: 15,195,700 (GRCm39) |
E308K |
possibly damaging |
Het |
| Kdm8 |
A |
T |
7: 125,060,103 (GRCm39) |
Y335F |
probably damaging |
Het |
| Kif2b |
C |
G |
11: 91,467,963 (GRCm39) |
G107R |
probably benign |
Het |
| Lama4 |
G |
A |
10: 38,841,729 (GRCm39) |
|
probably benign |
Het |
| Lepr |
T |
C |
4: 101,671,961 (GRCm39) |
V995A |
probably benign |
Het |
| Mfsd4a |
A |
T |
1: 131,980,131 (GRCm39) |
V375E |
probably damaging |
Het |
| Mgl2 |
G |
T |
11: 70,027,869 (GRCm39) |
W359L |
probably damaging |
Het |
| Muc5b |
C |
A |
7: 141,414,798 (GRCm39) |
Y2581* |
probably null |
Het |
| Nol10 |
G |
T |
12: 17,423,562 (GRCm39) |
|
probably null |
Het |
| Or4k47 |
T |
A |
2: 111,451,538 (GRCm39) |
M294L |
probably benign |
Het |
| Or52n3 |
A |
T |
7: 104,530,348 (GRCm39) |
K145* |
probably null |
Het |
| Otud3 |
C |
T |
4: 138,636,865 (GRCm39) |
V99M |
probably damaging |
Het |
| Parvb |
T |
C |
15: 84,187,672 (GRCm39) |
|
probably null |
Het |
| Pclo |
C |
A |
5: 14,571,932 (GRCm39) |
P439Q |
possibly damaging |
Het |
| Peg10 |
CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC |
CATC |
6: 4,756,431 (GRCm39) |
|
probably benign |
Het |
| Pkn1 |
A |
T |
8: 84,419,302 (GRCm39) |
H100Q |
possibly damaging |
Het |
| Plce1 |
A |
T |
19: 38,748,581 (GRCm39) |
I1771F |
probably damaging |
Het |
| Plxna2 |
G |
T |
1: 194,483,366 (GRCm39) |
R1559L |
possibly damaging |
Het |
| Ppp2r3d |
T |
A |
9: 101,003,621 (GRCm39) |
I416L |
possibly damaging |
Het |
| Pramel42 |
T |
A |
5: 94,685,610 (GRCm39) |
Y423* |
probably null |
Het |
| Robo1 |
C |
A |
16: 72,757,039 (GRCm39) |
C333* |
probably null |
Het |
| Ryr2 |
A |
T |
13: 11,898,009 (GRCm39) |
Y129N |
probably damaging |
Het |
| Schip1 |
A |
T |
3: 68,525,032 (GRCm39) |
K359M |
probably damaging |
Het |
| Schip1 |
G |
T |
3: 68,525,033 (GRCm39) |
K359N |
probably damaging |
Het |
| Sh2d2a |
T |
A |
3: 87,755,668 (GRCm39) |
S65T |
possibly damaging |
Het |
| Ssrp1 |
G |
A |
2: 84,875,906 (GRCm39) |
M588I |
probably benign |
Het |
| Stim2 |
T |
A |
5: 54,273,470 (GRCm39) |
C567S |
probably benign |
Het |
| Syne1 |
C |
A |
10: 5,374,295 (GRCm39) |
A171S |
probably benign |
Het |
| Tigd3 |
A |
G |
19: 5,943,050 (GRCm39) |
S27P |
probably benign |
Het |
| Vipr1 |
C |
A |
9: 121,493,620 (GRCm39) |
Q224K |
probably damaging |
Het |
| Vmn1r75 |
T |
A |
7: 11,614,475 (GRCm39) |
M69K |
possibly damaging |
Het |
| Vmn2r72 |
T |
G |
7: 85,404,125 (GRCm39) |
D22A |
probably benign |
Het |
| Zbtb24 |
G |
A |
10: 41,340,472 (GRCm39) |
V523I |
probably benign |
Het |
| Zbtb43 |
A |
G |
2: 33,352,307 (GRCm39) |
F20S |
probably benign |
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 |
|
|
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 |
|
|
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'- TTTTATGGGAAGGACATTGGAGAGG -3'
Sequencing Primer
(F):5'- GATAGCACCTGCATTTAATCCCGG -3'
(R):5'- TTGGAGAGGAGAGTAATTGGGATTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation