Incidental Mutation 'R9293:Cyp3a44'
ID |
704389 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp3a44
|
Ensembl Gene |
ENSMUSG00000054417 |
Gene Name |
cytochrome P450, family 3, subfamily a, polypeptide 44 |
Synonyms |
|
MMRRC Submission |
068991-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
R9293 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
145710793-145742684 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 145711187 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 495
(V495L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000069932
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067479]
|
AlphaFold |
Q9EQW4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000067479
AA Change: V495L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000069932 Gene: ENSMUSG00000054417 AA Change: V495L
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
Pfam:p450
|
38 |
494 |
2.4e-133 |
PFAM |
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
Validation Efficiency |
95% (54/57) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
T |
C |
3: 137,771,839 (GRCm39) |
S343P |
possibly damaging |
Het |
4930563M21Rik |
T |
A |
9: 55,916,568 (GRCm39) |
E36D |
unknown |
Het |
Abcc8 |
T |
G |
7: 45,756,092 (GRCm39) |
K1450T |
probably benign |
Het |
Aox1 |
A |
T |
1: 58,361,953 (GRCm39) |
N720Y |
possibly damaging |
Het |
BC034090 |
T |
C |
1: 155,101,518 (GRCm39) |
T249A |
probably benign |
Het |
Brf2 |
A |
T |
8: 27,614,021 (GRCm39) |
S388R |
probably damaging |
Het |
Ccdc180 |
A |
T |
4: 45,944,461 (GRCm39) |
Q1437L |
probably damaging |
Het |
Cdc42ep1 |
A |
C |
15: 78,734,025 (GRCm39) |
D375A |
probably benign |
Het |
Cep85l |
T |
C |
10: 53,174,282 (GRCm39) |
Y487C |
probably damaging |
Het |
Cfap299 |
C |
T |
5: 98,646,162 (GRCm39) |
A86V |
probably benign |
Het |
Chd3 |
C |
T |
11: 69,244,027 (GRCm39) |
R1346H |
possibly damaging |
Het |
Cltc |
T |
A |
11: 86,603,446 (GRCm39) |
R793S |
possibly damaging |
Het |
Crat |
A |
G |
2: 30,298,214 (GRCm39) |
F162L |
probably benign |
Het |
Dchs2 |
C |
T |
3: 83,189,361 (GRCm39) |
T1575I |
possibly damaging |
Het |
Ddx60 |
A |
G |
8: 62,462,994 (GRCm39) |
T1292A |
possibly damaging |
Het |
Dnah12 |
C |
T |
14: 26,495,016 (GRCm39) |
A109V |
probably benign |
Het |
Foxo3 |
C |
T |
10: 42,073,021 (GRCm39) |
V499M |
probably damaging |
Het |
Fry |
T |
C |
5: 150,419,297 (GRCm39) |
S546P |
|
Het |
Hfe |
T |
C |
13: 23,890,792 (GRCm39) |
K204E |
probably benign |
Het |
Hibch |
T |
A |
1: 52,952,986 (GRCm39) |
Y329N |
probably damaging |
Het |
Irf9 |
T |
G |
14: 55,846,247 (GRCm39) |
I426S |
probably damaging |
Het |
Kif26a |
C |
A |
12: 112,112,835 (GRCm39) |
P13T |
probably damaging |
Het |
Lhx5 |
A |
C |
5: 120,570,451 (GRCm39) |
K36Q |
probably benign |
Het |
Mdn1 |
T |
C |
4: 32,707,579 (GRCm39) |
S1623P |
probably damaging |
Het |
Mre11a |
T |
C |
9: 14,710,884 (GRCm39) |
F193L |
probably damaging |
Het |
Mybl2 |
G |
A |
2: 162,910,135 (GRCm39) |
G187E |
probably damaging |
Het |
Myh1 |
A |
T |
11: 67,099,929 (GRCm39) |
Q613L |
probably benign |
Het |
Myo5a |
T |
A |
9: 75,087,312 (GRCm39) |
M1056K |
probably benign |
Het |
Or1e16 |
T |
C |
11: 73,285,955 (GRCm39) |
K298E |
probably damaging |
Het |
Or4a27 |
G |
A |
2: 88,559,799 (GRCm39) |
T48I |
probably benign |
Het |
Or51ag1 |
C |
T |
7: 103,155,727 (GRCm39) |
R142H |
probably benign |
Het |
Or8b3b |
T |
C |
9: 38,584,414 (GRCm39) |
I109V |
probably damaging |
Het |
Pcdhga12 |
G |
A |
18: 37,900,940 (GRCm39) |
V591M |
probably damaging |
Het |
Phyhipl |
A |
G |
10: 70,401,116 (GRCm39) |
S161P |
probably damaging |
Het |
Pmfbp1 |
A |
G |
8: 110,263,205 (GRCm39) |
T775A |
probably benign |
Het |
Pou3f3 |
T |
C |
1: 42,736,682 (GRCm39) |
V126A |
unknown |
Het |
Reg4 |
A |
C |
3: 98,143,631 (GRCm39) |
K142Q |
possibly damaging |
Het |
Rimoc1 |
T |
C |
15: 4,021,336 (GRCm39) |
D73G |
probably damaging |
Het |
Sec22c |
G |
T |
9: 121,517,314 (GRCm39) |
A199E |
probably damaging |
Het |
Sema3d |
C |
T |
5: 12,603,181 (GRCm39) |
P395S |
probably damaging |
Het |
Sh2b2 |
C |
T |
5: 136,260,893 (GRCm39) |
E108K |
possibly damaging |
Het |
Slfn3 |
A |
G |
11: 83,105,616 (GRCm39) |
K538E |
possibly damaging |
Het |
Spatc1l |
A |
T |
10: 76,405,200 (GRCm39) |
D194V |
probably damaging |
Het |
Stoml3 |
T |
C |
3: 53,408,185 (GRCm39) |
V77A |
possibly damaging |
Het |
Taco1 |
A |
G |
11: 105,963,930 (GRCm39) |
I230V |
probably benign |
Het |
Tfcp2 |
T |
C |
15: 100,411,934 (GRCm39) |
T346A |
probably benign |
Het |
Tmem8b |
C |
T |
4: 43,686,188 (GRCm39) |
T273M |
probably damaging |
Het |
Trav6-1 |
A |
G |
14: 52,876,299 (GRCm39) |
N73S |
probably benign |
Het |
Trav6d-5 |
A |
G |
14: 53,033,060 (GRCm39) |
D103G |
probably damaging |
Het |
Ttll5 |
T |
A |
12: 85,937,806 (GRCm39) |
L379Q |
probably damaging |
Het |
Ube3c |
T |
A |
5: 29,803,846 (GRCm39) |
|
probably benign |
Het |
Ubr3 |
A |
C |
2: 69,727,769 (GRCm39) |
D44A |
probably benign |
Het |
Upp2 |
G |
T |
2: 58,457,443 (GRCm39) |
R5L |
unknown |
Het |
Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
Vmn2r17 |
C |
T |
5: 109,600,712 (GRCm39) |
T670I |
probably damaging |
Het |
Zfp433 |
A |
T |
10: 81,556,122 (GRCm39) |
H208L |
probably damaging |
Het |
Zfp616 |
A |
T |
11: 73,974,744 (GRCm39) |
I429F |
possibly damaging |
Het |
|
Other mutations in Cyp3a44 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00813:Cyp3a44
|
APN |
5 |
145,711,157 (GRCm39) |
makesense |
probably null |
|
IGL00972:Cyp3a44
|
APN |
5 |
145,716,534 (GRCm39) |
missense |
possibly damaging |
0.84 |
IGL01062:Cyp3a44
|
APN |
5 |
145,731,149 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL01072:Cyp3a44
|
APN |
5 |
145,728,438 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01515:Cyp3a44
|
APN |
5 |
145,736,228 (GRCm39) |
nonsense |
probably null |
|
IGL01738:Cyp3a44
|
APN |
5 |
145,731,745 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01869:Cyp3a44
|
APN |
5 |
145,727,496 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02269:Cyp3a44
|
APN |
5 |
145,742,547 (GRCm39) |
missense |
probably benign |
0.23 |
IGL02284:Cyp3a44
|
APN |
5 |
145,725,179 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02479:Cyp3a44
|
APN |
5 |
145,727,477 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02480:Cyp3a44
|
APN |
5 |
145,731,715 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02506:Cyp3a44
|
APN |
5 |
145,736,198 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02957:Cyp3a44
|
APN |
5 |
145,716,472 (GRCm39) |
nonsense |
probably null |
|
IGL02978:Cyp3a44
|
APN |
5 |
145,725,208 (GRCm39) |
missense |
probably damaging |
0.98 |
R0427:Cyp3a44
|
UTSW |
5 |
145,716,412 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1240:Cyp3a44
|
UTSW |
5 |
145,711,250 (GRCm39) |
missense |
probably benign |
0.02 |
R1247:Cyp3a44
|
UTSW |
5 |
145,728,477 (GRCm39) |
missense |
probably damaging |
1.00 |
R1657:Cyp3a44
|
UTSW |
5 |
145,716,553 (GRCm39) |
missense |
probably damaging |
0.99 |
R2096:Cyp3a44
|
UTSW |
5 |
145,725,215 (GRCm39) |
missense |
probably damaging |
1.00 |
R2156:Cyp3a44
|
UTSW |
5 |
145,740,480 (GRCm39) |
nonsense |
probably null |
|
R2412:Cyp3a44
|
UTSW |
5 |
145,716,389 (GRCm39) |
nonsense |
probably null |
|
R4817:Cyp3a44
|
UTSW |
5 |
145,740,565 (GRCm39) |
missense |
possibly damaging |
0.64 |
R4884:Cyp3a44
|
UTSW |
5 |
145,714,792 (GRCm39) |
missense |
probably damaging |
1.00 |
R5266:Cyp3a44
|
UTSW |
5 |
145,731,207 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5301:Cyp3a44
|
UTSW |
5 |
145,725,326 (GRCm39) |
missense |
probably damaging |
0.99 |
R5463:Cyp3a44
|
UTSW |
5 |
145,740,554 (GRCm39) |
missense |
probably benign |
0.00 |
R5625:Cyp3a44
|
UTSW |
5 |
145,716,376 (GRCm39) |
missense |
possibly damaging |
0.74 |
R5635:Cyp3a44
|
UTSW |
5 |
145,738,124 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5924:Cyp3a44
|
UTSW |
5 |
145,731,137 (GRCm39) |
missense |
possibly damaging |
0.54 |
R5964:Cyp3a44
|
UTSW |
5 |
145,725,277 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5988:Cyp3a44
|
UTSW |
5 |
145,731,728 (GRCm39) |
missense |
probably damaging |
1.00 |
R6011:Cyp3a44
|
UTSW |
5 |
145,738,084 (GRCm39) |
critical splice donor site |
probably null |
|
R6032:Cyp3a44
|
UTSW |
5 |
145,714,756 (GRCm39) |
missense |
probably damaging |
1.00 |
R6032:Cyp3a44
|
UTSW |
5 |
145,714,756 (GRCm39) |
missense |
probably damaging |
1.00 |
R6413:Cyp3a44
|
UTSW |
5 |
145,731,254 (GRCm39) |
missense |
probably damaging |
1.00 |
R6579:Cyp3a44
|
UTSW |
5 |
145,727,516 (GRCm39) |
missense |
probably damaging |
0.99 |
R6587:Cyp3a44
|
UTSW |
5 |
145,742,569 (GRCm39) |
missense |
probably benign |
0.23 |
R6709:Cyp3a44
|
UTSW |
5 |
145,714,902 (GRCm39) |
splice site |
probably null |
|
R6727:Cyp3a44
|
UTSW |
5 |
145,731,781 (GRCm39) |
nonsense |
probably null |
|
R6825:Cyp3a44
|
UTSW |
5 |
145,716,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R7142:Cyp3a44
|
UTSW |
5 |
145,714,771 (GRCm39) |
missense |
probably benign |
0.24 |
R7352:Cyp3a44
|
UTSW |
5 |
145,740,498 (GRCm39) |
missense |
probably benign |
0.01 |
R7921:Cyp3a44
|
UTSW |
5 |
145,728,498 (GRCm39) |
missense |
probably damaging |
1.00 |
R7962:Cyp3a44
|
UTSW |
5 |
145,738,135 (GRCm39) |
missense |
probably benign |
|
R8099:Cyp3a44
|
UTSW |
5 |
145,725,212 (GRCm39) |
missense |
probably benign |
0.12 |
R8240:Cyp3a44
|
UTSW |
5 |
145,725,257 (GRCm39) |
missense |
probably damaging |
0.99 |
R8836:Cyp3a44
|
UTSW |
5 |
145,731,728 (GRCm39) |
missense |
probably damaging |
1.00 |
R8923:Cyp3a44
|
UTSW |
5 |
145,736,171 (GRCm39) |
missense |
probably damaging |
1.00 |
R8934:Cyp3a44
|
UTSW |
5 |
145,731,786 (GRCm39) |
missense |
possibly damaging |
0.70 |
R9019:Cyp3a44
|
UTSW |
5 |
145,727,519 (GRCm39) |
missense |
probably damaging |
1.00 |
R9287:Cyp3a44
|
UTSW |
5 |
145,725,202 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9425:Cyp3a44
|
UTSW |
5 |
145,740,548 (GRCm39) |
nonsense |
probably null |
|
Z1176:Cyp3a44
|
UTSW |
5 |
145,728,474 (GRCm39) |
missense |
probably benign |
0.03 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTGCACAGACACTGAGAAAG -3'
(R):5'- TGGCAGGGAAAACATATGACTTTG -3'
Sequencing Primer
(F):5'- TGAGAAAGCTCAGTGGATGTACTG -3'
(R):5'- GGAAAACATATGACTTTGAATTCAGC -3'
|
Posted On |
2022-03-25 |