Incidental Mutation 'R4112:Cyp3a25'
| ID |
368262 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp3a25
|
| Ensembl Gene |
ENSMUSG00000029630 |
| Gene Name |
cytochrome P450, family 3, subfamily a, polypeptide 25 |
| Synonyms |
|
| MMRRC Submission |
040989-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R4112 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
145914004-145946428 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 145939841 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 55
(D55E)
|
| 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: D55E
PolyPhen 2
Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000065585
Gene: ENSMUSG00000029630
AA Change: D55E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
38 |
493 |
9.4e-129 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138870
AA Change: D55E
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000116077
Gene: ENSMUSG00000029630
AA Change: D55E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
38 |
126 |
2e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145062
AA Change: D55E
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000123615
Gene: ENSMUSG00000029630
AA Change: D55E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
38 |
148 |
3.9e-21 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.3%
|
| Validation Efficiency |
97% (56/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Aamp |
A |
G |
1: 74,320,386 (GRCm39) |
|
probably benign |
Het |
| Abcb4 |
A |
G |
5: 8,986,783 (GRCm39) |
|
probably null |
Het |
| Adam6b |
T |
A |
12: 113,453,256 (GRCm39) |
F24L |
possibly damaging |
Het |
| Alms1 |
G |
A |
6: 85,597,870 (GRCm39) |
V1368I |
probably benign |
Het |
| Angpt2 |
T |
A |
8: 18,749,139 (GRCm39) |
Q326L |
probably damaging |
Het |
| Armc9 |
T |
A |
1: 86,116,661 (GRCm39) |
I327N |
possibly damaging |
Het |
| Bace2 |
A |
G |
16: 97,237,856 (GRCm39) |
T436A |
probably benign |
Het |
| Ccdc162 |
T |
A |
10: 41,532,324 (GRCm39) |
E450V |
possibly damaging |
Het |
| Ccdc7b |
G |
T |
8: 129,811,708 (GRCm39) |
|
probably benign |
Het |
| Cdh17 |
T |
C |
4: 11,814,628 (GRCm39) |
S728P |
probably damaging |
Het |
| Chia1 |
T |
C |
3: 106,035,844 (GRCm39) |
L168P |
probably damaging |
Het |
| Cnot1 |
A |
C |
8: 96,500,246 (GRCm39) |
L111V |
probably damaging |
Het |
| Col14a1 |
A |
T |
15: 55,226,955 (GRCm39) |
N235I |
unknown |
Het |
| Col2a1 |
A |
C |
15: 97,881,582 (GRCm39) |
L787R |
probably benign |
Het |
| Dennd6a |
A |
T |
14: 26,349,673 (GRCm39) |
|
probably benign |
Het |
| Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
| Etfbkmt |
T |
C |
6: 149,046,089 (GRCm39) |
|
probably benign |
Het |
| Etfrf1 |
T |
C |
6: 145,161,098 (GRCm39) |
Y23H |
probably damaging |
Het |
| Gemin4 |
T |
A |
11: 76,103,645 (GRCm39) |
E372V |
probably damaging |
Het |
| Glyr1 |
T |
C |
16: 4,836,350 (GRCm39) |
K500E |
possibly damaging |
Het |
| Gm10271 |
A |
T |
10: 116,803,943 (GRCm39) |
|
probably benign |
Het |
| Gm20775 |
A |
T |
Y: 10,641,878 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5578 |
A |
G |
6: 112,583,466 (GRCm39) |
|
noncoding transcript |
Het |
| Gxylt2 |
A |
G |
6: 100,760,167 (GRCm39) |
N234S |
probably damaging |
Het |
| Kcna6 |
G |
C |
6: 126,716,737 (GRCm39) |
R51G |
probably damaging |
Het |
| Klf17 |
A |
G |
4: 117,617,898 (GRCm39) |
V153A |
possibly damaging |
Het |
| L3mbtl2 |
T |
C |
15: 81,566,170 (GRCm39) |
V331A |
possibly damaging |
Het |
| Med1 |
A |
T |
11: 98,070,913 (GRCm39) |
V110E |
probably damaging |
Het |
| Nsmaf |
A |
C |
4: 6,417,188 (GRCm39) |
Y535* |
probably null |
Het |
| Pcdh10 |
G |
A |
3: 45,336,055 (GRCm39) |
V790M |
probably damaging |
Het |
| Phlpp1 |
A |
G |
1: 106,292,068 (GRCm39) |
T976A |
probably damaging |
Het |
| Prelid3a |
T |
C |
18: 67,605,967 (GRCm39) |
Y25H |
probably damaging |
Het |
| Ptprk |
T |
A |
10: 28,351,284 (GRCm39) |
|
probably null |
Het |
| Rbm5 |
A |
T |
9: 107,642,796 (GRCm39) |
D79E |
probably damaging |
Het |
| Rhox3f |
G |
T |
X: 36,763,672 (GRCm39) |
E140* |
probably null |
Het |
| Rnd3 |
T |
A |
2: 51,038,242 (GRCm39) |
T78S |
possibly damaging |
Het |
| Scart2 |
G |
T |
7: 139,878,281 (GRCm39) |
G1003* |
probably null |
Het |
| Sgca |
T |
C |
11: 94,863,396 (GRCm39) |
T27A |
possibly damaging |
Het |
| Slc10a2 |
C |
T |
8: 5,155,135 (GRCm39) |
D17N |
probably benign |
Het |
| Snap23 |
C |
T |
2: 120,414,856 (GRCm39) |
|
probably benign |
Het |
| Sptb |
T |
A |
12: 76,644,553 (GRCm39) |
T2098S |
probably damaging |
Het |
| Src |
T |
A |
2: 157,304,946 (GRCm39) |
L165H |
probably damaging |
Het |
| Srr |
G |
T |
11: 74,803,898 (GRCm39) |
Q20K |
probably benign |
Het |
| Stt3b |
A |
T |
9: 115,095,206 (GRCm39) |
F275Y |
probably damaging |
Het |
| Sucnr1 |
C |
G |
3: 59,994,215 (GRCm39) |
R248G |
probably damaging |
Het |
| Thsd7b |
A |
T |
1: 130,044,356 (GRCm39) |
D1112V |
probably benign |
Het |
| Tmem80 |
A |
G |
7: 140,913,692 (GRCm39) |
|
probably benign |
Het |
| Top2a |
C |
A |
11: 98,913,786 (GRCm39) |
K18N |
probably damaging |
Het |
| Ttc24 |
T |
A |
3: 87,981,946 (GRCm39) |
D40V |
probably damaging |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp3 |
T |
A |
11: 70,662,333 (GRCm39) |
S97R |
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 |
|
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'- TGTGAAAGAAATTGCAACTATAGGAA -3'
(R):5'- TACAATTTGGGTTTGATTCTTGCA -3'
Sequencing Primer
(F):5'- CAGGTAGTGATAGCACCTGC -3'
(R):5'- GCAGTTCCTGAGTCATGACTGAC -3'
|
| Posted On |
2016-01-15 |
Incidental Mutation