Incidental Mutation 'IGL03274:Gm4884'
ID |
415346 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gm4884
|
Ensembl Gene |
ENSMUSG00000048312 |
Gene Name |
predicted gene 4884 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
IGL03274
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
40682143-40694726 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 40693969 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 646
(E646G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133059
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164422]
|
AlphaFold |
E9PVP9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000164422
AA Change: E646G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000133059 Gene: ENSMUSG00000048312 AA Change: E646G
Domain | Start | End | E-Value | Type |
Pfam:DUF4629
|
243 |
387 |
8e-62 |
PFAM |
low complexity region
|
509 |
533 |
N/A |
INTRINSIC |
internal_repeat_1
|
554 |
584 |
1.89e-11 |
PROSPERO |
internal_repeat_1
|
583 |
613 |
1.89e-11 |
PROSPERO |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191289
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adissp |
A |
T |
2: 130,995,512 (GRCm39) |
|
probably null |
Het |
Anln |
C |
A |
9: 22,293,565 (GRCm39) |
R26M |
probably damaging |
Het |
Capn15 |
A |
T |
17: 26,180,812 (GRCm39) |
S753T |
probably damaging |
Het |
Ccdc62 |
A |
G |
5: 124,092,743 (GRCm39) |
N576S |
probably benign |
Het |
Csmd3 |
T |
C |
15: 47,508,900 (GRCm39) |
D2895G |
probably damaging |
Het |
Dspp |
T |
A |
5: 104,322,814 (GRCm39) |
V37E |
probably damaging |
Het |
Efcab3 |
A |
T |
11: 104,611,919 (GRCm39) |
D587V |
probably benign |
Het |
Efcab6 |
T |
C |
15: 83,752,450 (GRCm39) |
D1473G |
probably damaging |
Het |
Ehhadh |
T |
C |
16: 21,582,090 (GRCm39) |
|
probably benign |
Het |
Fbln1 |
T |
C |
15: 85,116,879 (GRCm39) |
|
probably null |
Het |
Gbp9 |
A |
G |
5: 105,230,652 (GRCm39) |
V424A |
possibly damaging |
Het |
Gda |
T |
C |
19: 21,394,371 (GRCm39) |
Y236C |
possibly damaging |
Het |
Gm4952 |
C |
A |
19: 12,600,960 (GRCm39) |
|
probably benign |
Het |
Gm5422 |
G |
T |
10: 31,126,348 (GRCm39) |
|
noncoding transcript |
Het |
Grin2b |
C |
T |
6: 135,757,253 (GRCm39) |
D403N |
possibly damaging |
Het |
Hsf2bp |
G |
A |
17: 32,226,744 (GRCm39) |
R204C |
probably damaging |
Het |
Il16 |
T |
C |
7: 83,310,442 (GRCm39) |
E488G |
probably damaging |
Het |
Kat6b |
G |
T |
14: 21,659,831 (GRCm39) |
D212Y |
possibly damaging |
Het |
Kctd2 |
A |
C |
11: 115,320,208 (GRCm39) |
I247L |
possibly damaging |
Het |
Kel |
T |
A |
6: 41,664,929 (GRCm39) |
|
probably null |
Het |
Krt20 |
A |
T |
11: 99,320,855 (GRCm39) |
|
probably benign |
Het |
Litaf |
T |
C |
16: 10,784,433 (GRCm39) |
T26A |
probably damaging |
Het |
N4bp2l2 |
G |
T |
5: 150,584,931 (GRCm39) |
Q350K |
probably damaging |
Het |
Nav2 |
T |
G |
7: 49,011,847 (GRCm39) |
I26S |
probably damaging |
Het |
Nfya |
A |
G |
17: 48,698,375 (GRCm39) |
Y162H |
probably damaging |
Het |
Or2g25 |
C |
T |
17: 37,970,646 (GRCm39) |
A193T |
probably benign |
Het |
Pbx4 |
A |
T |
8: 70,319,200 (GRCm39) |
S244C |
probably damaging |
Het |
Pcdhb16 |
T |
C |
18: 37,612,285 (GRCm39) |
V415A |
probably benign |
Het |
Rbbp8 |
A |
G |
18: 11,874,133 (GRCm39) |
|
probably benign |
Het |
Sp100 |
T |
C |
1: 85,635,025 (GRCm39) |
|
probably benign |
Het |
Spag16 |
A |
G |
1: 69,883,540 (GRCm39) |
|
probably benign |
Het |
Star |
A |
G |
8: 26,301,082 (GRCm39) |
D138G |
possibly damaging |
Het |
|
Other mutations in Gm4884 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00429:Gm4884
|
APN |
7 |
40,693,809 (GRCm39) |
missense |
probably benign |
0.22 |
IGL00980:Gm4884
|
APN |
7 |
40,693,150 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02230:Gm4884
|
APN |
7 |
40,692,829 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03271:Gm4884
|
APN |
7 |
40,692,699 (GRCm39) |
missense |
probably benign |
0.33 |
R0013:Gm4884
|
UTSW |
7 |
40,693,716 (GRCm39) |
missense |
probably damaging |
1.00 |
R0139:Gm4884
|
UTSW |
7 |
40,692,387 (GRCm39) |
missense |
probably benign |
0.00 |
R0179:Gm4884
|
UTSW |
7 |
40,693,252 (GRCm39) |
missense |
probably benign |
0.26 |
R0960:Gm4884
|
UTSW |
7 |
40,692,232 (GRCm39) |
missense |
possibly damaging |
0.55 |
R1167:Gm4884
|
UTSW |
7 |
40,693,336 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1311:Gm4884
|
UTSW |
7 |
40,692,539 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1466:Gm4884
|
UTSW |
7 |
40,692,552 (GRCm39) |
missense |
probably damaging |
0.96 |
R1466:Gm4884
|
UTSW |
7 |
40,692,552 (GRCm39) |
missense |
probably damaging |
0.96 |
R1581:Gm4884
|
UTSW |
7 |
40,693,255 (GRCm39) |
missense |
probably benign |
0.09 |
R1622:Gm4884
|
UTSW |
7 |
40,692,265 (GRCm39) |
missense |
probably damaging |
0.99 |
R1891:Gm4884
|
UTSW |
7 |
40,692,539 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1952:Gm4884
|
UTSW |
7 |
40,693,671 (GRCm39) |
missense |
probably benign |
0.02 |
R2198:Gm4884
|
UTSW |
7 |
40,690,229 (GRCm39) |
missense |
probably benign |
|
R2209:Gm4884
|
UTSW |
7 |
40,692,745 (GRCm39) |
missense |
possibly damaging |
0.47 |
R2210:Gm4884
|
UTSW |
7 |
40,692,970 (GRCm39) |
missense |
possibly damaging |
0.72 |
R2219:Gm4884
|
UTSW |
7 |
40,692,910 (GRCm39) |
missense |
possibly damaging |
0.75 |
R3688:Gm4884
|
UTSW |
7 |
40,692,910 (GRCm39) |
missense |
possibly damaging |
0.75 |
R4437:Gm4884
|
UTSW |
7 |
40,692,514 (GRCm39) |
missense |
probably damaging |
0.97 |
R4472:Gm4884
|
UTSW |
7 |
40,692,687 (GRCm39) |
missense |
probably benign |
0.35 |
R5137:Gm4884
|
UTSW |
7 |
40,692,318 (GRCm39) |
missense |
probably damaging |
0.99 |
R5700:Gm4884
|
UTSW |
7 |
40,692,643 (GRCm39) |
missense |
probably benign |
0.22 |
R5875:Gm4884
|
UTSW |
7 |
40,692,360 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6479:Gm4884
|
UTSW |
7 |
40,690,211 (GRCm39) |
missense |
probably damaging |
0.99 |
R6659:Gm4884
|
UTSW |
7 |
40,694,046 (GRCm39) |
missense |
probably damaging |
1.00 |
R7180:Gm4884
|
UTSW |
7 |
40,693,633 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7844:Gm4884
|
UTSW |
7 |
40,690,122 (GRCm39) |
missense |
probably benign |
0.11 |
R8153:Gm4884
|
UTSW |
7 |
40,692,582 (GRCm39) |
missense |
probably benign |
0.17 |
R8436:Gm4884
|
UTSW |
7 |
40,692,810 (GRCm39) |
missense |
probably damaging |
0.97 |
R8880:Gm4884
|
UTSW |
7 |
40,693,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R8885:Gm4884
|
UTSW |
7 |
40,694,108 (GRCm39) |
nonsense |
probably null |
|
R9406:Gm4884
|
UTSW |
7 |
40,692,565 (GRCm39) |
missense |
probably damaging |
1.00 |
R9621:Gm4884
|
UTSW |
7 |
40,693,111 (GRCm39) |
missense |
possibly damaging |
0.76 |
R9728:Gm4884
|
UTSW |
7 |
40,692,689 (GRCm39) |
missense |
probably benign |
0.00 |
RF013:Gm4884
|
UTSW |
7 |
40,690,233 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Gm4884
|
UTSW |
7 |
40,692,300 (GRCm39) |
missense |
possibly damaging |
0.71 |
Z1177:Gm4884
|
UTSW |
7 |
40,682,161 (GRCm39) |
start gained |
probably benign |
|
|
Posted On |
2016-08-02 |