Incidental Mutation 'R3903:Golm1'
| ID |
309274 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Golm1
|
| Ensembl Gene |
ENSMUSG00000021556 |
| Gene Name |
golgi membrane protein 1 |
| Synonyms |
Golph2, 2310001L02Rik, D030064E01Rik, PSEC0257, GP73 |
| MMRRC Submission |
040907-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R3903 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
59782810-59823598 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59786154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 346
(Q346R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093410
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022038]
[ENSMUST00000022039]
[ENSMUST00000095739]
|
| AlphaFold |
Q91XA2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022038
|
| SMART Domains |
Protein: ENSMUSP00000022038
Gene: ENSMUSG00000021555
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mak10
|
45 |
145 |
2.2e-29 |
PFAM |
|
Pfam:Mak10
|
141 |
194 |
3.7e-10 |
PFAM |
|
low complexity region
|
561 |
568 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022039
AA Change: Q346R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022039
Gene: ENSMUSG00000021556
AA Change: Q346R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
coiled coil region
|
40 |
144 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095739
AA Change: Q346R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093410
Gene: ENSMUSG00000021556
AA Change: Q346R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
coiled coil region
|
40 |
144 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165841
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172118
|
| Meta Mutation Damage Score |
0.0789 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (32/32) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a type II Golgi transmembrane protein. It processes proteins synthesized in the rough endoplasmic reticulum and assists in the transport of protein cargo through the Golgi apparatus. The expression of this gene has been observed to be upregulated in response to viral infection. Alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit increased premature lethality with kidney abnormalities and liver steatosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amd1 |
C |
T |
10: 40,166,453 (GRCm39) |
R210H |
probably benign |
Het |
| Amt |
C |
T |
9: 108,174,420 (GRCm39) |
R62C |
possibly damaging |
Het |
| Ap3m1 |
T |
C |
14: 21,086,732 (GRCm39) |
Y185C |
probably null |
Het |
| Calcrl |
T |
A |
2: 84,198,986 (GRCm39) |
|
probably benign |
Het |
| Ccdc178 |
C |
T |
18: 22,156,152 (GRCm39) |
V573I |
possibly damaging |
Het |
| Cdh6 |
T |
C |
15: 13,042,661 (GRCm39) |
K499R |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Col6a1 |
C |
T |
10: 76,547,175 (GRCm39) |
R730H |
unknown |
Het |
| Cyp4f40 |
C |
A |
17: 32,878,598 (GRCm39) |
R47S |
possibly damaging |
Het |
| Eif4a2 |
AG |
A |
16: 22,929,390 (GRCm39) |
|
probably null |
Het |
| Fsip2l |
T |
C |
X: 47,930,421 (GRCm39) |
N649S |
possibly damaging |
Het |
| Gm8180 |
T |
A |
14: 44,021,092 (GRCm39) |
R39W |
probably null |
Het |
| Grap |
T |
G |
11: 61,551,151 (GRCm39) |
|
probably null |
Het |
| Hormad2 |
A |
G |
11: 4,377,237 (GRCm39) |
|
probably benign |
Het |
| Hyal1 |
T |
C |
9: 107,456,171 (GRCm39) |
|
probably null |
Het |
| Kif12 |
A |
G |
4: 63,086,213 (GRCm39) |
V378A |
possibly damaging |
Het |
| Lrrk2 |
G |
A |
15: 91,631,904 (GRCm39) |
S1276N |
probably damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,631,903 (GRCm39) |
S1276C |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or4f53 |
A |
T |
2: 111,088,114 (GRCm39) |
Y218F |
probably damaging |
Het |
| Or7c70 |
T |
G |
10: 78,683,132 (GRCm39) |
I206L |
probably benign |
Het |
| Or8c20 |
C |
T |
9: 38,260,954 (GRCm39) |
Q186* |
probably null |
Het |
| Pabpc6 |
T |
C |
17: 9,888,083 (GRCm39) |
E156G |
probably benign |
Het |
| Rorb |
A |
G |
19: 18,939,463 (GRCm39) |
Y155H |
probably damaging |
Het |
| Samd9l |
T |
A |
6: 3,376,830 (GRCm39) |
K144* |
probably null |
Het |
| Scn1a |
A |
G |
2: 66,148,476 (GRCm39) |
I3T |
probably benign |
Het |
| Serpinb9 |
T |
C |
13: 33,194,793 (GRCm39) |
M183T |
possibly damaging |
Het |
| Wnk1 |
A |
G |
6: 119,926,012 (GRCm39) |
S1151P |
probably damaging |
Het |
| Xirp2 |
C |
T |
2: 67,338,380 (GRCm39) |
T207I |
probably benign |
Het |
| Zfp39 |
T |
C |
11: 58,781,001 (GRCm39) |
Y587C |
probably benign |
Het |
|
| Other mutations in Golm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01116:Golm1
|
APN |
13 |
59,797,470 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01327:Golm1
|
APN |
13 |
59,792,958 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02348:Golm1
|
APN |
13 |
59,786,191 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0047:Golm1
|
UTSW |
13 |
59,792,914 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0047:Golm1
|
UTSW |
13 |
59,792,914 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0458:Golm1
|
UTSW |
13 |
59,812,178 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0989:Golm1
|
UTSW |
13 |
59,787,997 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1301:Golm1
|
UTSW |
13 |
59,786,187 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1804:Golm1
|
UTSW |
13 |
59,790,203 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1905:Golm1
|
UTSW |
13 |
59,790,065 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1940:Golm1
|
UTSW |
13 |
59,790,051 (GRCm39) |
splice site |
probably benign |
|
|
R2086:Golm1
|
UTSW |
13 |
59,792,999 (GRCm39) |
nonsense |
probably null |
|
|
R2513:Golm1
|
UTSW |
13 |
59,790,072 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2887:Golm1
|
UTSW |
13 |
59,788,044 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4154:Golm1
|
UTSW |
13 |
59,790,167 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5580:Golm1
|
UTSW |
13 |
59,790,179 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6193:Golm1
|
UTSW |
13 |
59,792,972 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6418:Golm1
|
UTSW |
13 |
59,813,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6594:Golm1
|
UTSW |
13 |
59,812,041 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6604:Golm1
|
UTSW |
13 |
59,786,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6967:Golm1
|
UTSW |
13 |
59,797,390 (GRCm39) |
small deletion |
probably benign |
|
|
R6968:Golm1
|
UTSW |
13 |
59,797,390 (GRCm39) |
small deletion |
probably benign |
|
|
R6991:Golm1
|
UTSW |
13 |
59,797,390 (GRCm39) |
small deletion |
probably benign |
|
|
R6992:Golm1
|
UTSW |
13 |
59,797,390 (GRCm39) |
small deletion |
probably benign |
|
|
R6993:Golm1
|
UTSW |
13 |
59,797,390 (GRCm39) |
small deletion |
probably benign |
|
|
R6996:Golm1
|
UTSW |
13 |
59,790,058 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7576:Golm1
|
UTSW |
13 |
59,792,920 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7692:Golm1
|
UTSW |
13 |
59,788,071 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7863:Golm1
|
UTSW |
13 |
59,797,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7948:Golm1
|
UTSW |
13 |
59,812,011 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9519:Golm1
|
UTSW |
13 |
59,792,914 (GRCm39) |
missense |
probably benign |
|
|
R9703:Golm1
|
UTSW |
13 |
59,797,433 (GRCm39) |
missense |
probably benign |
0.39 |
|
X0026:Golm1
|
UTSW |
13 |
59,786,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGATTTCTGGGACACCTTTGC -3'
(R):5'- ACTCGCCATGGCATTTGTATTG -3'
Sequencing Primer
(F):5'- GGGACACCTTTGCTCTAACC -3'
(R):5'- CAGTCAGGCTACTTTCTGAGGTACAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation