Incidental Mutation 'IGL02506:Cyp3a44'
ID |
296311 |
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 # |
IGL02506
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
145710793-145742684 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 145736198 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 84
(I84N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000069932
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067479]
|
AlphaFold |
Q9EQW4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000067479
AA Change: I84N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000069932 Gene: ENSMUSG00000054417 AA Change: I84N
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg8 |
A |
G |
17: 84,999,916 (GRCm39) |
E189G |
possibly damaging |
Het |
Acad11 |
T |
C |
9: 103,968,931 (GRCm39) |
|
probably null |
Het |
Adcy7 |
G |
T |
8: 89,044,571 (GRCm39) |
R488L |
probably damaging |
Het |
Akt1 |
C |
T |
12: 112,625,714 (GRCm39) |
|
probably benign |
Het |
Ano9 |
C |
T |
7: 140,682,167 (GRCm39) |
|
probably benign |
Het |
Arhgap15 |
A |
G |
2: 43,953,820 (GRCm39) |
D182G |
possibly damaging |
Het |
Asxl3 |
T |
A |
18: 22,585,456 (GRCm39) |
V127D |
probably benign |
Het |
Cacna1g |
A |
G |
11: 94,319,955 (GRCm39) |
M1407T |
probably damaging |
Het |
Card9 |
A |
C |
2: 26,244,427 (GRCm39) |
|
probably benign |
Het |
Cdh5 |
A |
G |
8: 104,864,454 (GRCm39) |
N472D |
probably damaging |
Het |
Ceacam2 |
T |
A |
7: 25,227,379 (GRCm39) |
T343S |
probably benign |
Het |
Cic |
T |
A |
7: 24,990,282 (GRCm39) |
C1928S |
probably benign |
Het |
Clk3 |
C |
T |
9: 57,661,927 (GRCm39) |
W31* |
probably null |
Het |
Cntn4 |
A |
G |
6: 106,595,349 (GRCm39) |
T489A |
probably benign |
Het |
Crispld1 |
G |
A |
1: 17,826,529 (GRCm39) |
R431H |
probably damaging |
Het |
Crmp1 |
T |
A |
5: 37,436,199 (GRCm39) |
|
probably benign |
Het |
Cyld |
A |
G |
8: 89,456,218 (GRCm39) |
T423A |
possibly damaging |
Het |
D2hgdh |
A |
G |
1: 93,757,507 (GRCm39) |
N141D |
probably damaging |
Het |
Dip2b |
T |
A |
15: 100,055,162 (GRCm39) |
L341Q |
probably damaging |
Het |
F3 |
C |
T |
3: 121,525,323 (GRCm39) |
T53I |
possibly damaging |
Het |
Fam227b |
T |
A |
2: 125,845,831 (GRCm39) |
Y386F |
probably benign |
Het |
Fmn1 |
A |
T |
2: 113,355,640 (GRCm39) |
T694S |
unknown |
Het |
Gcnt2 |
T |
A |
13: 41,040,856 (GRCm39) |
V5E |
probably benign |
Het |
Herpud1 |
G |
T |
8: 95,121,270 (GRCm39) |
E355* |
probably null |
Het |
Igf1r |
T |
C |
7: 67,843,144 (GRCm39) |
S752P |
probably benign |
Het |
Iqsec1 |
T |
C |
6: 90,649,057 (GRCm39) |
I687V |
possibly damaging |
Het |
Kdm5a |
T |
C |
6: 120,409,110 (GRCm39) |
S1598P |
probably damaging |
Het |
Klk1b9 |
A |
G |
7: 43,445,063 (GRCm39) |
E185G |
probably benign |
Het |
Myo16 |
G |
T |
8: 10,440,217 (GRCm39) |
R423L |
probably damaging |
Het |
Myo7b |
T |
C |
18: 32,100,207 (GRCm39) |
E1609G |
probably damaging |
Het |
Nom1 |
T |
A |
5: 29,644,814 (GRCm39) |
|
probably benign |
Het |
Nomo1 |
A |
G |
7: 45,727,480 (GRCm39) |
I1040V |
possibly damaging |
Het |
Or8b39 |
G |
A |
9: 37,996,741 (GRCm39) |
G203D |
probably damaging |
Het |
Paqr9 |
T |
C |
9: 95,442,748 (GRCm39) |
V246A |
probably benign |
Het |
Pfkfb4 |
A |
T |
9: 108,859,404 (GRCm39) |
D437V |
probably benign |
Het |
Phldb1 |
G |
T |
9: 44,622,223 (GRCm39) |
D797E |
probably benign |
Het |
Pkd1l3 |
A |
G |
8: 110,374,132 (GRCm39) |
E1399G |
probably damaging |
Het |
Plekhs1 |
G |
A |
19: 56,460,198 (GRCm39) |
C97Y |
probably damaging |
Het |
Plscr4 |
A |
T |
9: 92,372,044 (GRCm39) |
I272L |
possibly damaging |
Het |
Prlhr |
A |
C |
19: 60,456,366 (GRCm39) |
Y67D |
probably damaging |
Het |
Rab3gap2 |
A |
G |
1: 184,984,221 (GRCm39) |
|
probably benign |
Het |
Rad23b |
T |
C |
4: 55,382,511 (GRCm39) |
V238A |
probably benign |
Het |
Sel1l2 |
T |
C |
2: 140,117,380 (GRCm39) |
T164A |
possibly damaging |
Het |
Serpinh1 |
T |
A |
7: 98,996,199 (GRCm39) |
K295M |
probably damaging |
Het |
Slc45a4 |
T |
C |
15: 73,453,687 (GRCm39) |
E770G |
probably benign |
Het |
Spag4 |
T |
C |
2: 155,911,142 (GRCm39) |
L390P |
probably damaging |
Het |
Stip1 |
A |
G |
19: 7,012,857 (GRCm39) |
|
probably benign |
Het |
Tacr1 |
A |
G |
6: 82,380,739 (GRCm39) |
N50S |
probably damaging |
Het |
Tg |
T |
C |
15: 66,613,443 (GRCm39) |
V433A |
possibly damaging |
Het |
Ubap1l |
T |
A |
9: 65,276,493 (GRCm39) |
|
probably benign |
Het |
Usp40 |
A |
T |
1: 87,909,738 (GRCm39) |
I572K |
probably damaging |
Het |
Vps13b |
G |
T |
15: 35,917,308 (GRCm39) |
E3717D |
probably damaging |
Het |
Wdr81 |
T |
C |
11: 75,335,232 (GRCm39) |
N1778S |
probably benign |
Het |
Ylpm1 |
T |
A |
12: 85,095,965 (GRCm39) |
F1162Y |
probably damaging |
Het |
Zbtb10 |
T |
A |
3: 9,330,297 (GRCm39) |
F552I |
probably damaging |
Het |
Zfp507 |
T |
C |
7: 35,475,891 (GRCm39) |
I811V |
probably damaging |
Het |
Zfp663 |
A |
T |
2: 165,195,871 (GRCm39) |
V116D |
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 |
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 |