Incidental Mutation 'IGL00972:Cyp3a44'
ID |
27522 |
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 # |
IGL00972
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
145710793-145742684 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 145716534 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 352
(M352K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000069932
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067479]
|
AlphaFold |
Q9EQW4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067479
AA Change: M352K
PolyPhen 2
Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000069932 Gene: ENSMUSG00000054417 AA Change: M352K
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3100002H09Rik |
A |
G |
4: 124,504,484 (GRCm39) |
F23L |
probably damaging |
Het |
Abcf3 |
A |
T |
16: 20,370,434 (GRCm39) |
M320L |
probably damaging |
Het |
Adam4 |
A |
T |
12: 81,467,423 (GRCm39) |
H399Q |
probably damaging |
Het |
Ank1 |
A |
G |
8: 23,631,660 (GRCm39) |
K140E |
probably damaging |
Het |
Atg2a |
G |
A |
19: 6,304,629 (GRCm39) |
C1162Y |
probably damaging |
Het |
Atp2b1 |
T |
A |
10: 98,850,906 (GRCm39) |
I34N |
probably damaging |
Het |
Bin1 |
A |
T |
18: 32,557,887 (GRCm39) |
E260V |
probably benign |
Het |
Birc2 |
G |
A |
9: 7,833,716 (GRCm39) |
S255L |
probably benign |
Het |
Cdc42bpa |
A |
G |
1: 179,902,249 (GRCm39) |
Q502R |
probably benign |
Het |
Cep170 |
A |
G |
1: 176,563,262 (GRCm39) |
V1584A |
probably benign |
Het |
Commd3 |
A |
T |
2: 18,679,476 (GRCm39) |
R120S |
probably benign |
Het |
Cyp39a1 |
A |
T |
17: 44,012,434 (GRCm39) |
I304L |
probably benign |
Het |
Dna2 |
T |
C |
10: 62,786,602 (GRCm39) |
Y117H |
probably benign |
Het |
Dnah6 |
A |
G |
6: 73,060,140 (GRCm39) |
|
probably benign |
Het |
Dsc1 |
G |
A |
18: 20,221,420 (GRCm39) |
P685L |
probably benign |
Het |
Efna5 |
T |
A |
17: 62,920,374 (GRCm39) |
I168L |
possibly damaging |
Het |
Ephx1 |
A |
G |
1: 180,827,365 (GRCm39) |
F96S |
probably benign |
Het |
Fig4 |
A |
T |
10: 41,127,784 (GRCm39) |
I560K |
probably damaging |
Het |
Fktn |
T |
A |
4: 53,734,992 (GRCm39) |
I210N |
probably damaging |
Het |
Fmnl1 |
T |
C |
11: 103,071,781 (GRCm39) |
V96A |
probably damaging |
Het |
Gabra1 |
T |
G |
11: 42,024,453 (GRCm39) |
E407D |
probably benign |
Het |
Gm5277 |
A |
T |
3: 78,799,593 (GRCm39) |
|
noncoding transcript |
Het |
H2-M10.5 |
A |
T |
17: 37,084,227 (GRCm39) |
E63V |
possibly damaging |
Het |
Icam5 |
T |
A |
9: 20,945,993 (GRCm39) |
V275E |
probably damaging |
Het |
Kel |
G |
A |
6: 41,665,000 (GRCm39) |
A588V |
possibly damaging |
Het |
Klra5 |
T |
A |
6: 129,883,568 (GRCm39) |
E96D |
probably damaging |
Het |
Limd1 |
C |
T |
9: 123,309,141 (GRCm39) |
T280I |
probably benign |
Het |
Mul1 |
C |
A |
4: 138,165,628 (GRCm39) |
S95* |
probably null |
Het |
Nlrp4a |
T |
C |
7: 26,156,473 (GRCm39) |
S733P |
probably benign |
Het |
Ntn1 |
T |
A |
11: 68,104,098 (GRCm39) |
I517F |
possibly damaging |
Het |
Ntrk3 |
T |
A |
7: 77,897,070 (GRCm39) |
M656L |
possibly damaging |
Het |
Oacyl |
T |
G |
18: 65,858,572 (GRCm39) |
L226R |
possibly damaging |
Het |
Or1ad6 |
A |
T |
11: 50,859,946 (GRCm39) |
M34L |
probably benign |
Het |
Or4f61 |
A |
T |
2: 111,922,439 (GRCm39) |
N202K |
probably damaging |
Het |
Or5ac17 |
A |
G |
16: 59,036,829 (GRCm39) |
I49T |
probably damaging |
Het |
Pibf1 |
T |
A |
14: 99,416,885 (GRCm39) |
L486* |
probably null |
Het |
Pla2g4c |
A |
G |
7: 13,074,583 (GRCm39) |
Y253C |
probably benign |
Het |
Rims3 |
C |
A |
4: 120,748,583 (GRCm39) |
A268E |
probably benign |
Het |
Rpl12 |
T |
C |
2: 32,853,759 (GRCm39) |
I129T |
probably benign |
Het |
Rsl1 |
A |
T |
13: 67,329,862 (GRCm39) |
K103N |
probably benign |
Het |
Scn11a |
A |
T |
9: 119,623,004 (GRCm39) |
W612R |
probably benign |
Het |
Sdk2 |
G |
A |
11: 113,745,210 (GRCm39) |
T695M |
possibly damaging |
Het |
Slc17a1 |
T |
A |
13: 24,062,437 (GRCm39) |
|
probably benign |
Het |
Stam |
A |
T |
2: 14,120,779 (GRCm39) |
|
probably benign |
Het |
Tacr3 |
T |
G |
3: 134,638,116 (GRCm39) |
N424K |
probably benign |
Het |
Tas1r2 |
C |
T |
4: 139,387,347 (GRCm39) |
R240W |
probably damaging |
Het |
Tle1 |
T |
C |
4: 72,040,637 (GRCm39) |
R648G |
probably damaging |
Het |
Tmem92 |
T |
C |
11: 94,673,254 (GRCm39) |
D3G |
possibly damaging |
Het |
Trip11 |
T |
C |
12: 101,860,596 (GRCm39) |
I250V |
probably null |
Het |
Tspan8 |
C |
T |
10: 115,680,044 (GRCm39) |
|
probably benign |
Het |
Vmn1r128 |
A |
G |
7: 21,084,001 (GRCm39) |
E235G |
probably benign |
Het |
Vmn1r220 |
A |
G |
13: 23,368,558 (GRCm39) |
L46P |
probably damaging |
Het |
Vmn2r9 |
T |
C |
5: 108,996,903 (GRCm39) |
E122G |
probably benign |
Het |
Zfp27 |
A |
T |
7: 29,594,383 (GRCm39) |
N527K |
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 |
|
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 |
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 |
2013-04-17 |