Incidental Mutation 'IGL01794:Golm2'
| ID |
155299 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Golm2
|
| Ensembl Gene |
ENSMUSG00000060227 |
| Gene Name |
golgi membrane protein 2 |
| Synonyms |
D130060C09Rik, Casc4 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01794
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
121697451-121766701 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 121742407 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 206
(N206K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117883
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078752]
[ENSMUST00000089912]
[ENSMUST00000089915]
[ENSMUST00000110586]
[ENSMUST00000136023]
|
| AlphaFold |
Q6P2L7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078752
AA Change: N318K
PolyPhen 2
Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000077811
Gene: ENSMUSG00000060227
AA Change: N318K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
coiled coil region
|
37 |
195 |
N/A |
INTRINSIC |
|
low complexity region
|
400 |
418 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089912
AA Change: N285K
PolyPhen 2
Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000087357
Gene: ENSMUSG00000060227
AA Change: N285K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
coiled coil region
|
37 |
195 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
385 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089915
AA Change: N285K
PolyPhen 2
Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000087360
Gene: ENSMUSG00000060227
AA Change: N285K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
coiled coil region
|
37 |
195 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110586
AA Change: N318K
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000106216
Gene: ENSMUSG00000060227
AA Change: N318K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
coiled coil region
|
37 |
195 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126256
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136023
AA Change: N206K
PolyPhen 2
Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000117883
Gene: ENSMUSG00000060227
AA Change: N206K
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
2 |
83 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The increased expression level of this gene is associated with HER-2/neu proto-oncogene overexpression. Amplification and resulting overexpression of this proto-oncogene are found in approximately 30% of human breast and 20% of human ovarian cancers. Alternatively spliced variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Dec 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
C |
T |
6: 91,895,093 (GRCm39) |
R263* |
probably null |
Het |
| Appl2 |
A |
G |
10: 83,450,158 (GRCm39) |
V238A |
probably benign |
Het |
| Bcl2l11 |
T |
A |
2: 127,970,568 (GRCm39) |
S6T |
probably damaging |
Het |
| Bptf |
A |
G |
11: 106,944,047 (GRCm39) |
|
probably null |
Het |
| Catsper3 |
T |
C |
13: 55,946,719 (GRCm39) |
S139P |
possibly damaging |
Het |
| Cdh3 |
A |
G |
8: 107,263,758 (GRCm39) |
N192S |
possibly damaging |
Het |
| Dsc1 |
A |
T |
18: 20,243,240 (GRCm39) |
I71N |
probably damaging |
Het |
| Fbxw2 |
A |
G |
2: 34,701,131 (GRCm39) |
|
probably benign |
Het |
| Gad1 |
G |
T |
2: 70,427,512 (GRCm39) |
V473L |
probably benign |
Het |
| Gtpbp1 |
C |
T |
15: 79,600,447 (GRCm39) |
T460I |
probably damaging |
Het |
| Krt16 |
G |
A |
11: 100,138,731 (GRCm39) |
T185I |
probably benign |
Het |
| Mapk1ip1 |
C |
T |
7: 138,438,426 (GRCm39) |
M1I |
probably null |
Het |
| Nt5e |
A |
T |
9: 88,249,351 (GRCm39) |
L428F |
probably damaging |
Het |
| Or5p54 |
A |
G |
7: 107,554,502 (GRCm39) |
Y218C |
probably damaging |
Het |
| Pah |
G |
T |
10: 87,414,784 (GRCm39) |
V379F |
possibly damaging |
Het |
| Scn7a |
T |
C |
2: 66,505,853 (GRCm39) |
T1679A |
probably benign |
Het |
| Sdccag8 |
T |
A |
1: 176,672,873 (GRCm39) |
H293Q |
possibly damaging |
Het |
| Spmip4 |
T |
C |
6: 50,554,826 (GRCm39) |
I268M |
probably damaging |
Het |
| Suco |
A |
G |
1: 161,655,294 (GRCm39) |
M1066T |
probably benign |
Het |
| Trim9 |
A |
G |
12: 70,328,654 (GRCm39) |
Y369H |
probably damaging |
Het |
| Usp34 |
G |
A |
11: 23,386,020 (GRCm39) |
R2149H |
probably damaging |
Het |
|
| Other mutations in Golm2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Golm2
|
APN |
2 |
121,741,274 (GRCm39) |
splice site |
probably benign |
|
|
IGL01020:Golm2
|
APN |
2 |
121,756,203 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02429:Golm2
|
APN |
2 |
121,742,468 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0126:Golm2
|
UTSW |
2 |
121,736,565 (GRCm39) |
splice site |
probably benign |
|
|
R0709:Golm2
|
UTSW |
2 |
121,697,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2182:Golm2
|
UTSW |
2 |
121,697,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4771:Golm2
|
UTSW |
2 |
121,756,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5533:Golm2
|
UTSW |
2 |
121,756,178 (GRCm39) |
intron |
probably benign |
|
|
R5817:Golm2
|
UTSW |
2 |
121,736,525 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6519:Golm2
|
UTSW |
2 |
121,737,218 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6598:Golm2
|
UTSW |
2 |
121,763,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6598:Golm2
|
UTSW |
2 |
121,763,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7799:Golm2
|
UTSW |
2 |
121,764,022 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8009:Golm2
|
UTSW |
2 |
121,737,242 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8359:Golm2
|
UTSW |
2 |
121,697,632 (GRCm39) |
start gained |
probably benign |
|
|
R8360:Golm2
|
UTSW |
2 |
121,697,632 (GRCm39) |
start gained |
probably benign |
|
|
R8995:Golm2
|
UTSW |
2 |
121,756,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9095:Golm2
|
UTSW |
2 |
121,756,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9620:Golm2
|
UTSW |
2 |
121,737,242 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation