Incidental Mutation 'R6598:Golm2'
| ID |
525019 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Golm2
|
| Ensembl Gene |
ENSMUSG00000060227 |
| Gene Name |
golgi membrane protein 2 |
| Synonyms |
D130060C09Rik, Casc4 |
| MMRRC Submission |
044722-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6598 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
121697451-121766701 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 121763966 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 247
(E247D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117883
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078752]
[ENSMUST00000089912]
[ENSMUST00000089915]
[ENSMUST00000110586]
[ENSMUST00000136023]
|
| AlphaFold |
Q6P2L7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078752
AA Change: E415D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000077811
Gene: ENSMUSG00000060227
AA Change: E415D
| 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 damaging
Transcript: ENSMUST00000089912
AA Change: E382D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000087357
Gene: ENSMUSG00000060227
AA Change: E382D
| 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 damaging
Transcript: ENSMUST00000089915
AA Change: E326D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000087360
Gene: ENSMUSG00000060227
AA Change: E326D
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
coiled coil region
|
37 |
195 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110586
AA Change: E359D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000106216
Gene: ENSMUSG00000060227
AA Change: E359D
| 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 damaging
Transcript: ENSMUST00000136023
AA Change: E247D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117883
Gene: ENSMUSG00000060227
AA Change: E247D
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
2 |
83 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0636 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (43/43) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
A |
T |
14: 56,007,502 (GRCm39) |
S943T |
probably benign |
Het |
| Adgrv1 |
T |
G |
13: 81,654,298 (GRCm39) |
E2911A |
probably damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,430,896 (GRCm39) |
F819S |
probably damaging |
Het |
| Cald1 |
G |
A |
6: 34,723,575 (GRCm39) |
|
probably null |
Het |
| Clca3a2 |
G |
T |
3: 144,792,246 (GRCm39) |
Y338* |
probably null |
Het |
| Cmya5 |
C |
T |
13: 93,226,316 (GRCm39) |
G2924D |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,877,611 (GRCm39) |
L2122Q |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,909,161 (GRCm39) |
F1258S |
probably benign |
Het |
| Ddx39a |
T |
C |
8: 84,449,556 (GRCm39) |
V387A |
probably benign |
Het |
| Dscam |
A |
G |
16: 96,620,984 (GRCm39) |
C575R |
probably damaging |
Het |
| Dyrk4 |
C |
T |
6: 126,853,289 (GRCm39) |
V632M |
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Ermp1 |
A |
G |
19: 29,609,902 (GRCm39) |
S111P |
possibly damaging |
Het |
| Fbxo40 |
A |
T |
16: 36,789,376 (GRCm39) |
L578Q |
probably damaging |
Het |
| Frem1 |
A |
T |
4: 82,932,065 (GRCm39) |
F212Y |
probably damaging |
Het |
| Icos |
T |
G |
1: 61,033,856 (GRCm39) |
I162S |
possibly damaging |
Het |
| Kcnj8 |
G |
T |
6: 142,515,959 (GRCm39) |
N49K |
probably damaging |
Het |
| Ldhb |
A |
T |
6: 142,436,326 (GRCm39) |
M281K |
possibly damaging |
Het |
| Med17 |
T |
C |
9: 15,182,996 (GRCm39) |
K350E |
probably benign |
Het |
| Mpo |
A |
T |
11: 87,690,798 (GRCm39) |
N412I |
probably benign |
Het |
| Mrps24 |
A |
T |
11: 5,654,713 (GRCm39) |
D80E |
probably benign |
Het |
| Myo5c |
A |
G |
9: 75,153,516 (GRCm39) |
D134G |
probably damaging |
Het |
| Ndufs1 |
T |
C |
1: 63,204,109 (GRCm39) |
Q140R |
probably null |
Het |
| Nsd1 |
T |
C |
13: 55,441,515 (GRCm39) |
V1662A |
possibly damaging |
Het |
| Or10ag53 |
C |
T |
2: 87,083,100 (GRCm39) |
T273I |
probably damaging |
Het |
| Or5p51 |
G |
A |
7: 107,444,470 (GRCm39) |
L157F |
probably benign |
Het |
| Or6c88 |
C |
A |
10: 129,407,238 (GRCm39) |
T238N |
probably damaging |
Het |
| Polq |
G |
A |
16: 36,881,993 (GRCm39) |
A1386T |
probably benign |
Het |
| Ppil1 |
C |
A |
17: 29,480,852 (GRCm39) |
V24F |
probably benign |
Het |
| Prim1 |
G |
T |
10: 127,856,049 (GRCm39) |
V165L |
possibly damaging |
Het |
| Slc12a2 |
G |
A |
18: 58,031,145 (GRCm39) |
V317I |
probably benign |
Het |
| Tbpl1 |
A |
G |
10: 22,583,748 (GRCm39) |
V103A |
probably damaging |
Het |
| Tmprss11c |
C |
T |
5: 86,437,092 (GRCm39) |
E10K |
probably benign |
Het |
| Unc80 |
T |
G |
1: 66,507,699 (GRCm39) |
|
probably null |
Het |
| Uqcrc1 |
G |
T |
9: 108,776,690 (GRCm39) |
V30F |
possibly damaging |
Het |
| Vmn1r88 |
T |
C |
7: 12,912,150 (GRCm39) |
Y169H |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,404,626 (GRCm39) |
|
probably benign |
Het |
| Zc3h13 |
A |
G |
14: 75,569,623 (GRCm39) |
D1490G |
probably damaging |
Het |
| Zer1 |
T |
A |
2: 30,003,286 (GRCm39) |
S44C |
probably damaging |
Het |
| Zfp106 |
T |
A |
2: 120,365,541 (GRCm39) |
K289* |
probably null |
Het |
| Zfp618 |
A |
G |
4: 63,007,636 (GRCm39) |
Y155C |
probably damaging |
Het |
| Zfp979 |
A |
G |
4: 147,698,223 (GRCm39) |
L162P |
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 |
|
IGL01794:Golm2
|
APN |
2 |
121,742,407 (GRCm39) |
missense |
probably benign |
0.36 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTATTTACACTTCAGCCATGTGG -3'
(R):5'- TTGGCCCAGCTGTGTAGTAAC -3'
Sequencing Primer
(F):5'- CCATGTGGCTAAGGAACAGAGC -3'
(R):5'- GAGATGATCTGTTGCACAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation