Incidental Mutation 'IGL02436:Gm17175'
ID |
293289 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gm17175
|
Ensembl Gene |
ENSMUSG00000091142 |
Gene Name |
predicted gene 17175 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
IGL02436
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
51806349-51811520 bp(-) (GRCm39) |
Type of Mutation |
utr 3 prime |
DNA Base Change (assembly) |
A to T
at 51807108 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127078
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096170]
[ENSMUST00000162998]
[ENSMUST00000172117]
|
AlphaFold |
E9Q528 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000096170
|
SMART Domains |
Protein: ENSMUSP00000093884 Gene: ENSMUSG00000079244
Domain | Start | End | E-Value | Type |
Pfam:Takusan
|
56 |
144 |
1.3e-21 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162998
|
SMART Domains |
Protein: ENSMUSP00000125409 Gene: ENSMUSG00000068399
Domain | Start | End | E-Value | Type |
Pfam:Takusan
|
35 |
115 |
2.2e-25 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172117
|
SMART Domains |
Protein: ENSMUSP00000127078 Gene: ENSMUSG00000091142
Domain | Start | End | E-Value | Type |
Pfam:Takusan
|
23 |
103 |
3.3e-26 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Carm1 |
A |
T |
9: 21,490,758 (GRCm39) |
R209W |
probably damaging |
Het |
Clec4a2 |
A |
G |
6: 123,117,637 (GRCm39) |
D185G |
possibly damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dyrk3 |
A |
G |
1: 131,056,602 (GRCm39) |
S524P |
probably benign |
Het |
Hdx |
A |
T |
X: 110,510,445 (GRCm39) |
D512E |
probably damaging |
Het |
Hs6st2 |
T |
G |
X: 50,768,891 (GRCm39) |
T275P |
possibly damaging |
Het |
Hus1 |
T |
C |
11: 8,956,057 (GRCm39) |
I159V |
possibly damaging |
Het |
Lrrc37a |
T |
C |
11: 103,389,003 (GRCm39) |
T2141A |
unknown |
Het |
Ncoa7 |
A |
T |
10: 30,570,143 (GRCm39) |
I272N |
probably damaging |
Het |
Or10ad1b |
G |
T |
15: 98,125,171 (GRCm39) |
C118* |
probably null |
Het |
P3h2 |
T |
C |
16: 25,815,950 (GRCm39) |
K188E |
probably benign |
Het |
Pcsk5 |
A |
G |
19: 17,542,072 (GRCm39) |
|
probably null |
Het |
Pramel13 |
G |
T |
4: 144,119,539 (GRCm39) |
P343T |
possibly damaging |
Het |
Scn1a |
G |
A |
2: 66,181,497 (GRCm39) |
P9S |
probably benign |
Het |
Slc7a9 |
C |
A |
7: 35,156,478 (GRCm39) |
L307I |
probably benign |
Het |
Srebf2 |
G |
A |
15: 82,081,928 (GRCm39) |
G87S |
probably benign |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Tent5c |
C |
A |
3: 100,379,823 (GRCm39) |
R311L |
probably benign |
Het |
Tex30 |
T |
C |
1: 44,127,665 (GRCm39) |
|
probably null |
Het |
Thoc2l |
T |
A |
5: 104,669,021 (GRCm39) |
I1181K |
probably benign |
Het |
Tnrc6a |
C |
T |
7: 122,783,438 (GRCm39) |
R970* |
probably null |
Het |
Vgll2 |
A |
T |
10: 51,901,318 (GRCm39) |
R83* |
probably null |
Het |
|
Other mutations in Gm17175 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00966:Gm17175
|
APN |
14 |
51,810,526 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL01347:Gm17175
|
APN |
14 |
51,808,307 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01553:Gm17175
|
APN |
14 |
51,808,279 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02485:Gm17175
|
APN |
14 |
51,807,068 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL03171:Gm17175
|
APN |
14 |
51,809,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R4120:Gm17175
|
UTSW |
14 |
51,810,534 (GRCm39) |
missense |
probably damaging |
0.97 |
R4614:Gm17175
|
UTSW |
14 |
51,809,042 (GRCm39) |
missense |
probably benign |
0.28 |
R6496:Gm17175
|
UTSW |
14 |
51,810,534 (GRCm39) |
missense |
probably benign |
0.05 |
R6817:Gm17175
|
UTSW |
14 |
51,810,478 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7000:Gm17175
|
UTSW |
14 |
51,811,418 (GRCm39) |
start codon destroyed |
probably null |
|
R7814:Gm17175
|
UTSW |
14 |
51,811,492 (GRCm39) |
start gained |
probably benign |
|
R8074:Gm17175
|
UTSW |
14 |
51,809,080 (GRCm39) |
missense |
probably damaging |
0.97 |
R8423:Gm17175
|
UTSW |
14 |
51,809,070 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9608:Gm17175
|
UTSW |
14 |
51,809,099 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2015-04-16 |