Incidental Mutation 'R5266:Cyp3a44'
ID |
401693 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp3a44
|
Ensembl Gene |
ENSMUSG00000054417 |
Gene Name |
cytochrome P450, family 3, subfamily a, polypeptide 44 |
Synonyms |
|
MMRRC Submission |
042858-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.110)
|
Stock # |
R5266 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
145710793-145742684 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 145731207 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 198
(N198D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000069932
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067479]
|
AlphaFold |
Q9EQW4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067479
AA Change: N198D
PolyPhen 2
Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000069932 Gene: ENSMUSG00000054417 AA Change: N198D
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 |
0.0833 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
Validation Efficiency |
97% (56/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930503L19Rik |
T |
C |
18: 70,591,455 (GRCm39) |
N457S |
probably damaging |
Het |
Asic4 |
G |
A |
1: 75,427,567 (GRCm39) |
G31E |
probably benign |
Het |
Atp2a3 |
A |
G |
11: 72,866,223 (GRCm39) |
D281G |
probably damaging |
Het |
Azin1 |
T |
C |
15: 38,491,795 (GRCm39) |
D387G |
probably benign |
Het |
Bdp1 |
T |
C |
13: 100,204,043 (GRCm39) |
M660V |
probably benign |
Het |
Catsperg2 |
G |
A |
7: 29,416,491 (GRCm39) |
T307M |
probably damaging |
Het |
Cfap54 |
T |
G |
10: 92,651,764 (GRCm39) |
K3095N |
probably benign |
Het |
Chl1 |
A |
G |
6: 103,677,504 (GRCm39) |
N706S |
probably damaging |
Het |
Crym |
A |
G |
7: 119,798,517 (GRCm39) |
V113A |
probably benign |
Het |
Cux1 |
A |
G |
5: 136,341,548 (GRCm39) |
S607P |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Elac1 |
A |
G |
18: 73,875,740 (GRCm39) |
V97A |
probably benign |
Het |
Erbb3 |
G |
A |
10: 128,405,505 (GRCm39) |
T1251M |
probably damaging |
Het |
Gask1b |
T |
A |
3: 79,843,910 (GRCm39) |
N12K |
probably damaging |
Het |
Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
Hydin |
A |
G |
8: 111,061,416 (GRCm39) |
H316R |
possibly damaging |
Het |
Ikzf3 |
A |
T |
11: 98,381,406 (GRCm39) |
M58K |
probably benign |
Het |
Lyst |
T |
C |
13: 13,835,555 (GRCm39) |
Y1746H |
probably damaging |
Het |
Map3k11 |
T |
A |
19: 5,750,622 (GRCm39) |
N613K |
probably benign |
Het |
Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
Mrm1 |
A |
T |
11: 84,710,086 (GRCm39) |
L38Q |
possibly damaging |
Het |
Myo7b |
A |
G |
18: 32,131,787 (GRCm39) |
F470L |
probably damaging |
Het |
Ndst2 |
G |
A |
14: 20,774,555 (GRCm39) |
R834W |
probably damaging |
Het |
Opa1 |
T |
A |
16: 29,436,948 (GRCm39) |
I637N |
probably benign |
Het |
Or52h9 |
A |
T |
7: 104,203,026 (GRCm39) |
Q300L |
probably benign |
Het |
Or5d43 |
T |
C |
2: 88,104,565 (GRCm39) |
Y276C |
possibly damaging |
Het |
Padi4 |
A |
G |
4: 140,473,442 (GRCm39) |
V665A |
possibly damaging |
Het |
Pcdh1 |
A |
G |
18: 38,325,252 (GRCm39) |
Y897H |
probably damaging |
Het |
Pkp3 |
A |
G |
7: 140,663,190 (GRCm39) |
D345G |
probably damaging |
Het |
Pla2g4a |
T |
C |
1: 149,740,918 (GRCm39) |
M366V |
possibly damaging |
Het |
Pnkp |
C |
T |
7: 44,511,827 (GRCm39) |
S113L |
probably damaging |
Het |
Pon3 |
T |
C |
6: 5,240,860 (GRCm39) |
D34G |
possibly damaging |
Het |
Ppargc1b |
A |
T |
18: 61,448,876 (GRCm39) |
S133T |
probably damaging |
Het |
Ppp4r3b |
T |
C |
11: 29,123,309 (GRCm39) |
S2P |
possibly damaging |
Het |
Rbm20 |
A |
G |
19: 53,801,818 (GRCm39) |
T109A |
probably damaging |
Het |
Rexo5 |
C |
A |
7: 119,443,660 (GRCm39) |
H690Q |
probably benign |
Het |
Scube2 |
C |
T |
7: 109,408,437 (GRCm39) |
G670D |
probably damaging |
Het |
Sipa1l2 |
T |
C |
8: 126,218,865 (GRCm39) |
I157M |
probably damaging |
Het |
Slbp |
A |
T |
5: 33,801,210 (GRCm39) |
I167N |
probably damaging |
Het |
Sry |
C |
G |
Y: 2,662,975 (GRCm39) |
Q228H |
unknown |
Het |
Stk36 |
T |
C |
1: 74,650,317 (GRCm39) |
V283A |
probably benign |
Het |
Tead1 |
A |
G |
7: 112,358,673 (GRCm39) |
|
probably benign |
Het |
Tecpr2 |
G |
C |
12: 110,881,836 (GRCm39) |
W135S |
probably damaging |
Het |
Tha1 |
A |
C |
11: 117,760,502 (GRCm39) |
S241A |
probably damaging |
Het |
Ttc39a |
A |
T |
4: 109,279,701 (GRCm39) |
I112F |
probably benign |
Het |
Vmn1r128 |
A |
T |
7: 21,083,328 (GRCm39) |
T11S |
probably benign |
Het |
Vnn1 |
G |
A |
10: 23,779,303 (GRCm39) |
C404Y |
probably damaging |
Het |
Wdr41 |
T |
C |
13: 95,131,759 (GRCm39) |
F57L |
probably damaging |
Het |
Zfp975 |
T |
G |
7: 42,311,654 (GRCm39) |
T320P |
probably damaging |
Het |
Zfp985 |
A |
T |
4: 147,667,289 (GRCm39) |
|
probably null |
Het |
Zfpm2 |
T |
C |
15: 40,962,865 (GRCm39) |
S176P |
probably benign |
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 |
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 |
R9293:Cyp3a44
|
UTSW |
5 |
145,711,187 (GRCm39) |
missense |
probably benign |
0.00 |
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'- CAAAATACTGAACTGTGCCTTTAGG -3'
(R):5'- AAGGGCTTGGTCCATACTGAG -3'
Sequencing Primer
(F):5'- CCACTACAGCTGATCATTTGGAG -3'
(R):5'- GGTCCATACTGAGGTGCATTTAAC -3'
|
Posted On |
2016-07-06 |