Incidental Mutation 'IGL03310:Gm5117'
| ID |
416526 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gm5117
|
| Ensembl Gene |
ENSMUSG00000093862 |
| Gene Name |
predicted gene 5117 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.911)
|
| Stock # |
IGL03310
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
32227236-32229788 bp(-) (GRCm39) |
| Type of Mutation |
exon |
| DNA Base Change (assembly) |
T to A
at 32228836 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178878
|
| SMART Domains |
Protein: ENSMUSP00000137046
Gene: ENSMUSG00000093862
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
147 |
158 |
N/A |
INTRINSIC |
|
low complexity region
|
608 |
627 |
N/A |
INTRINSIC |
|
Pfam:Met_10
|
666 |
799 |
1.5e-9 |
PFAM |
|
Pfam:UPF0020
|
672 |
770 |
4e-8 |
PFAM |
|
Pfam:Methyltransf_18
|
687 |
815 |
5e-10 |
PFAM |
|
Pfam:Methyltransf_31
|
688 |
801 |
1.5e-10 |
PFAM |
|
Pfam:Methyltransf_26
|
688 |
803 |
1e-8 |
PFAM |
|
Pfam:Methyltransf_15
|
688 |
842 |
5e-48 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam10 |
C |
T |
9: 70,685,371 (GRCm39) |
R749C |
probably damaging |
Het |
| Atp9a |
A |
G |
2: 168,481,879 (GRCm39) |
F872L |
probably damaging |
Het |
| Cacna1e |
A |
C |
1: 154,317,997 (GRCm39) |
Y1462D |
probably damaging |
Het |
| Ccna1 |
T |
C |
3: 54,958,041 (GRCm39) |
T7A |
probably benign |
Het |
| Ces1d |
A |
G |
8: 93,901,816 (GRCm39) |
|
probably benign |
Het |
| Cmtm8 |
A |
T |
9: 114,619,794 (GRCm39) |
V117D |
probably benign |
Het |
| Cnot1 |
A |
G |
8: 96,462,308 (GRCm39) |
|
probably benign |
Het |
| Col24a1 |
A |
T |
3: 145,019,744 (GRCm39) |
|
probably benign |
Het |
| Crispld1 |
T |
C |
1: 17,815,701 (GRCm39) |
|
probably benign |
Het |
| Dnaja2 |
A |
T |
8: 86,275,534 (GRCm39) |
N140K |
probably benign |
Het |
| Fktn |
A |
T |
4: 53,720,120 (GRCm39) |
K6* |
probably null |
Het |
| Fryl |
C |
A |
5: 73,293,659 (GRCm39) |
|
probably benign |
Het |
| Gucy2c |
A |
C |
6: 136,728,044 (GRCm39) |
S319R |
probably benign |
Het |
| Helz2 |
G |
A |
2: 180,873,597 (GRCm39) |
A2299V |
probably benign |
Het |
| Hivep2 |
T |
C |
10: 14,019,411 (GRCm39) |
S2061P |
probably damaging |
Het |
| Irx4 |
A |
G |
13: 73,415,850 (GRCm39) |
N213S |
possibly damaging |
Het |
| Mark3 |
A |
G |
12: 111,614,104 (GRCm39) |
T649A |
probably benign |
Het |
| Nav3 |
C |
T |
10: 109,660,433 (GRCm39) |
|
probably null |
Het |
| Npr1 |
C |
T |
3: 90,363,298 (GRCm39) |
E861K |
probably benign |
Het |
| Or52a5 |
A |
C |
7: 103,426,634 (GRCm39) |
V306G |
probably benign |
Het |
| Or5a3 |
T |
C |
19: 12,400,291 (GRCm39) |
V206A |
probably benign |
Het |
| Pcdhb10 |
C |
T |
18: 37,545,374 (GRCm39) |
T150I |
probably damaging |
Het |
| Sdk2 |
A |
G |
11: 113,684,151 (GRCm39) |
C2009R |
possibly damaging |
Het |
| Trgv7 |
A |
G |
13: 19,362,664 (GRCm39) |
|
probably benign |
Het |
| Ttc16 |
T |
C |
2: 32,652,409 (GRCm39) |
|
probably benign |
Het |
| Ttc39b |
T |
A |
4: 83,165,896 (GRCm39) |
Y230F |
probably benign |
Het |
| Ubr1 |
A |
T |
2: 120,694,898 (GRCm39) |
I1678N |
probably damaging |
Het |
|
| Other mutations in Gm5117 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01022:Gm5117
|
APN |
8 |
32,228,515 (GRCm39) |
exon |
noncoding transcript |
|
|
IGL01362:Gm5117
|
APN |
8 |
32,227,947 (GRCm39) |
exon |
noncoding transcript |
|
|
IGL01972:Gm5117
|
APN |
8 |
32,227,787 (GRCm39) |
exon |
noncoding transcript |
|
|
IGL02100:Gm5117
|
APN |
8 |
32,227,412 (GRCm39) |
exon |
noncoding transcript |
|
|
IGL02339:Gm5117
|
APN |
8 |
32,228,254 (GRCm39) |
exon |
noncoding transcript |
|
|
IGL02366:Gm5117
|
APN |
8 |
32,227,887 (GRCm39) |
exon |
noncoding transcript |
|
|
IGL02505:Gm5117
|
APN |
8 |
32,228,344 (GRCm39) |
exon |
noncoding transcript |
|
|
IGL02698:Gm5117
|
APN |
8 |
32,229,767 (GRCm39) |
exon |
noncoding transcript |
|
|
IGL02835:Gm5117
|
UTSW |
8 |
32,227,198 (GRCm39) |
unclassified |
noncoding transcript |
|
|
R1816:Gm5117
|
UTSW |
8 |
32,228,986 (GRCm39) |
exon |
noncoding transcript |
|
|
R2157:Gm5117
|
UTSW |
8 |
32,228,222 (GRCm39) |
exon |
noncoding transcript |
|
|
R2353:Gm5117
|
UTSW |
8 |
32,229,223 (GRCm39) |
exon |
noncoding transcript |
|
|
R2404:Gm5117
|
UTSW |
8 |
32,227,306 (GRCm39) |
exon |
noncoding transcript |
|
|
R2408:Gm5117
|
UTSW |
8 |
32,227,306 (GRCm39) |
exon |
noncoding transcript |
|
|
R2409:Gm5117
|
UTSW |
8 |
32,227,306 (GRCm39) |
exon |
noncoding transcript |
|
|
R2510:Gm5117
|
UTSW |
8 |
32,228,383 (GRCm39) |
exon |
noncoding transcript |
|
|
R4686:Gm5117
|
UTSW |
8 |
32,229,284 (GRCm39) |
exon |
noncoding transcript |
|
|
R4953:Gm5117
|
UTSW |
8 |
32,228,608 (GRCm39) |
exon |
noncoding transcript |
|
|
R5244:Gm5117
|
UTSW |
8 |
32,228,305 (GRCm39) |
exon |
noncoding transcript |
|
|
R5275:Gm5117
|
UTSW |
8 |
32,229,595 (GRCm39) |
exon |
noncoding transcript |
|
|
R5329:Gm5117
|
UTSW |
8 |
32,227,910 (GRCm39) |
exon |
noncoding transcript |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation