Incidental Mutation 'IGL02485:Gm5150'
ID |
295387 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gm5150
|
Ensembl Gene |
ENSMUSG00000078780 |
Gene Name |
predicted gene 5150 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
IGL02485
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
16001035-16060535 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 16044916 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 103
(I103N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141397
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108347]
[ENSMUST00000194367]
|
AlphaFold |
Q1AN92 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108347
AA Change: I103N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103984 Gene: ENSMUSG00000078780 AA Change: I103N
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
IG
|
37 |
143 |
8.78e-9 |
SMART |
IG
|
156 |
262 |
7.52e-8 |
SMART |
transmembrane domain
|
272 |
294 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000194367
AA Change: I103N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141397 Gene: ENSMUSG00000078780 AA Change: I103N
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
IG
|
37 |
143 |
8.78e-9 |
SMART |
IG
|
156 |
262 |
7.52e-8 |
SMART |
transmembrane domain
|
272 |
294 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agl |
A |
G |
3: 116,572,729 (GRCm39) |
S841P |
probably benign |
Het |
Cd59b |
A |
C |
2: 103,911,449 (GRCm39) |
|
probably benign |
Het |
Dop1b |
T |
C |
16: 93,567,710 (GRCm39) |
L1379P |
probably damaging |
Het |
Ercc2 |
G |
A |
7: 19,127,970 (GRCm39) |
A433T |
possibly damaging |
Het |
Gm17175 |
T |
C |
14: 51,807,068 (GRCm39) |
|
probably benign |
Het |
Igf1 |
A |
G |
10: 87,700,608 (GRCm39) |
M11V |
probably benign |
Het |
Incenp |
T |
C |
19: 9,870,732 (GRCm39) |
N299S |
unknown |
Het |
Maneal |
A |
T |
4: 124,750,563 (GRCm39) |
S398T |
probably damaging |
Het |
Map1a |
A |
G |
2: 121,129,769 (GRCm39) |
N195S |
probably damaging |
Het |
Mars2 |
T |
C |
1: 55,276,750 (GRCm39) |
F118L |
possibly damaging |
Het |
Mast4 |
A |
G |
13: 102,872,004 (GRCm39) |
S2263P |
probably benign |
Het |
Mrgprb1 |
C |
A |
7: 48,097,465 (GRCm39) |
R149L |
possibly damaging |
Het |
Myo1d |
T |
C |
11: 80,557,407 (GRCm39) |
D511G |
probably damaging |
Het |
Ntan1 |
T |
C |
16: 13,652,540 (GRCm39) |
|
probably benign |
Het |
Nxf2 |
A |
G |
X: 133,857,216 (GRCm39) |
F158L |
probably damaging |
Het |
Odr4 |
A |
G |
1: 150,239,240 (GRCm39) |
|
probably null |
Het |
Or10g3b |
T |
A |
14: 52,587,501 (GRCm39) |
M1L |
possibly damaging |
Het |
Potefam1 |
A |
T |
2: 111,058,670 (GRCm39) |
V94E |
probably damaging |
Het |
Trpm1 |
C |
T |
7: 63,918,862 (GRCm39) |
A734V |
possibly damaging |
Het |
Upf2 |
G |
A |
2: 6,032,102 (GRCm39) |
E883K |
unknown |
Het |
Ush1c |
T |
C |
7: 45,878,674 (GRCm39) |
I83V |
probably damaging |
Het |
Vmn2r60 |
C |
A |
7: 41,844,890 (GRCm39) |
T751N |
possibly damaging |
Het |
Zfp146 |
A |
G |
7: 29,862,015 (GRCm39) |
I9T |
probably benign |
Het |
Zfp592 |
G |
A |
7: 80,687,718 (GRCm39) |
|
probably benign |
Het |
Zswim8 |
C |
T |
14: 20,761,955 (GRCm39) |
L243F |
probably damaging |
Het |
|
Other mutations in Gm5150 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02188:Gm5150
|
APN |
3 |
16,017,826 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02507:Gm5150
|
APN |
3 |
16,017,485 (GRCm39) |
missense |
probably damaging |
0.97 |
R1760:Gm5150
|
UTSW |
3 |
16,060,468 (GRCm39) |
missense |
probably benign |
0.00 |
R2081:Gm5150
|
UTSW |
3 |
16,045,109 (GRCm39) |
missense |
probably benign |
0.29 |
R3080:Gm5150
|
UTSW |
3 |
16,045,085 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3149:Gm5150
|
UTSW |
3 |
16,060,479 (GRCm39) |
missense |
probably damaging |
0.99 |
R5329:Gm5150
|
UTSW |
3 |
16,017,588 (GRCm39) |
missense |
probably benign |
0.35 |
R5627:Gm5150
|
UTSW |
3 |
16,017,564 (GRCm39) |
missense |
probably damaging |
1.00 |
R6052:Gm5150
|
UTSW |
3 |
16,044,917 (GRCm39) |
missense |
probably damaging |
1.00 |
R6455:Gm5150
|
UTSW |
3 |
16,044,815 (GRCm39) |
missense |
probably damaging |
1.00 |
R6963:Gm5150
|
UTSW |
3 |
16,060,555 (GRCm39) |
start gained |
probably benign |
|
R7688:Gm5150
|
UTSW |
3 |
16,017,747 (GRCm39) |
missense |
probably benign |
0.07 |
R7872:Gm5150
|
UTSW |
3 |
16,060,485 (GRCm39) |
start codon destroyed |
probably null |
0.37 |
R8368:Gm5150
|
UTSW |
3 |
16,044,902 (GRCm39) |
missense |
probably damaging |
1.00 |
R9165:Gm5150
|
UTSW |
3 |
16,045,060 (GRCm39) |
missense |
probably damaging |
1.00 |
R9629:Gm5150
|
UTSW |
3 |
16,044,829 (GRCm39) |
missense |
probably benign |
0.16 |
|
Posted On |
2015-04-16 |