Incidental Mutation 'IGL02480:Cyp3a44'
ID |
295139 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cyp3a44
|
Ensembl Gene |
ENSMUSG00000054417 |
Gene Name |
cytochrome P450, family 3, subfamily a, polypeptide 44 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.110)
|
Stock # |
IGL02480
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
145710793-145742684 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 145731715 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 144
(E144K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000069932
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067479]
|
AlphaFold |
Q9EQW4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067479
AA Change: E144K
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000069932 Gene: ENSMUSG00000054417 AA Change: E144K
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
Pfam:p450
|
38 |
494 |
2.4e-133 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadac |
T |
A |
3: 59,946,908 (GRCm39) |
I202K |
probably benign |
Het |
Abcc1 |
T |
A |
16: 14,221,869 (GRCm39) |
S169T |
possibly damaging |
Het |
Acsm1 |
A |
T |
7: 119,255,265 (GRCm39) |
I389F |
possibly damaging |
Het |
Actn2 |
T |
A |
13: 12,291,364 (GRCm39) |
Q680L |
probably benign |
Het |
Ankrd13d |
G |
A |
19: 4,321,491 (GRCm39) |
P404S |
possibly damaging |
Het |
Ankrd46 |
G |
T |
15: 36,484,142 (GRCm39) |
|
probably benign |
Het |
Arfip1 |
A |
G |
3: 84,455,239 (GRCm39) |
|
probably null |
Het |
Asb15 |
A |
T |
6: 24,570,745 (GRCm39) |
L574F |
probably damaging |
Het |
Cym |
T |
C |
3: 107,120,838 (GRCm39) |
I256V |
probably benign |
Het |
Efna1 |
T |
C |
3: 89,179,902 (GRCm39) |
E109G |
probably benign |
Het |
Eif4a3l1 |
A |
T |
6: 136,306,213 (GRCm39) |
I225F |
probably damaging |
Het |
Eml1 |
C |
A |
12: 108,487,955 (GRCm39) |
Q556K |
probably benign |
Het |
Eml5 |
T |
G |
12: 98,842,502 (GRCm39) |
T199P |
probably damaging |
Het |
Entr1 |
T |
A |
2: 26,275,132 (GRCm39) |
H342L |
probably damaging |
Het |
Etl4 |
A |
C |
2: 20,793,335 (GRCm39) |
M687L |
probably damaging |
Het |
Fam199x |
C |
A |
X: 135,950,788 (GRCm39) |
T56K |
probably damaging |
Het |
Fat4 |
A |
G |
3: 39,064,579 (GRCm39) |
D4845G |
probably damaging |
Het |
Gm4987 |
T |
A |
X: 45,544,973 (GRCm39) |
|
noncoding transcript |
Het |
Gm5828 |
C |
A |
1: 16,839,766 (GRCm39) |
|
noncoding transcript |
Het |
Gm5930 |
T |
C |
14: 44,575,087 (GRCm39) |
Y68C |
probably benign |
Het |
Gucy1a1 |
C |
T |
3: 82,005,040 (GRCm39) |
V582M |
probably damaging |
Het |
Haghl |
G |
T |
17: 26,002,033 (GRCm39) |
A220E |
probably damaging |
Het |
Hsf5 |
G |
A |
11: 87,522,483 (GRCm39) |
A359T |
possibly damaging |
Het |
Igsf9 |
A |
T |
1: 172,312,345 (GRCm39) |
|
probably benign |
Het |
Igsf9 |
C |
A |
1: 172,324,480 (GRCm39) |
D799E |
possibly damaging |
Het |
Itga1 |
A |
T |
13: 115,124,184 (GRCm39) |
F703I |
probably damaging |
Het |
Kcna6 |
G |
A |
6: 126,715,531 (GRCm39) |
P453S |
probably damaging |
Het |
Lzic |
A |
T |
4: 149,571,260 (GRCm39) |
N15I |
probably damaging |
Het |
Or1j10 |
T |
G |
2: 36,267,504 (GRCm39) |
C239G |
probably damaging |
Het |
Or2n1d |
A |
G |
17: 38,646,314 (GRCm39) |
R89G |
probably benign |
Het |
Or4f54 |
A |
G |
2: 111,122,858 (GRCm39) |
I82V |
possibly damaging |
Het |
Or5p78 |
C |
T |
7: 108,212,018 (GRCm39) |
T168I |
probably benign |
Het |
P4ha1 |
T |
C |
10: 59,179,574 (GRCm39) |
Y141H |
probably damaging |
Het |
Paxx |
G |
A |
2: 25,350,024 (GRCm39) |
P164S |
probably damaging |
Het |
Pgd |
A |
G |
4: 149,241,075 (GRCm39) |
V278A |
probably damaging |
Het |
Pik3c2g |
A |
G |
6: 139,798,526 (GRCm39) |
Y352C |
probably damaging |
Het |
Pkd2l2 |
A |
G |
18: 34,571,843 (GRCm39) |
N614S |
possibly damaging |
Het |
Poli |
T |
C |
18: 70,658,477 (GRCm39) |
T86A |
probably benign |
Het |
Psd2 |
G |
A |
18: 36,139,136 (GRCm39) |
R528H |
probably damaging |
Het |
Ptchd4 |
G |
T |
17: 42,813,431 (GRCm39) |
C444F |
probably benign |
Het |
Ptpra |
C |
A |
2: 130,346,181 (GRCm39) |
T114K |
probably benign |
Het |
Rho |
A |
G |
6: 115,912,505 (GRCm39) |
N123S |
probably benign |
Het |
Setd5 |
A |
G |
6: 113,120,770 (GRCm39) |
D993G |
probably damaging |
Het |
Slc1a2 |
T |
C |
2: 102,566,411 (GRCm39) |
L38P |
probably damaging |
Het |
Slc2a7 |
G |
A |
4: 150,244,569 (GRCm39) |
V346M |
possibly damaging |
Het |
Slc43a1 |
A |
G |
2: 84,669,928 (GRCm39) |
I7V |
probably benign |
Het |
Spag9 |
C |
T |
11: 93,999,413 (GRCm39) |
Q691* |
probably null |
Het |
Timmdc1 |
A |
T |
16: 38,342,763 (GRCm39) |
V45D |
probably null |
Het |
Tlr8 |
T |
A |
X: 166,027,179 (GRCm39) |
H557L |
probably 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 |
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 |
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 |
|
Posted On |
2015-04-16 |