Incidental Mutation 'R4414:Golim4'
| ID |
328051 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Golim4
|
| Ensembl Gene |
ENSMUSG00000034109 |
| Gene Name |
golgi integral membrane protein 4 |
| Synonyms |
3110027H23Rik, P138, GPP130, Golph4 |
| MMRRC Submission |
041694-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R4414 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
75783490-75864256 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 75802347 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Threonine
at position 287
(N287T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132910
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038563]
[ENSMUST00000117242]
[ENSMUST00000167078]
|
| AlphaFold |
Q8BXA1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038563
AA Change: N287T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000048997
Gene: ENSMUSG00000034109
AA Change: N287T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
32 |
N/A |
INTRINSIC |
|
coiled coil region
|
108 |
211 |
N/A |
INTRINSIC |
|
coiled coil region
|
295 |
326 |
N/A |
INTRINSIC |
|
coiled coil region
|
371 |
402 |
N/A |
INTRINSIC |
|
low complexity region
|
432 |
442 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
472 |
524 |
2.99e-6 |
PROSPERO |
|
low complexity region
|
538 |
550 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
573 |
618 |
2.99e-6 |
PROSPERO |
|
low complexity region
|
634 |
641 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117242
AA Change: N315T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000114006
Gene: ENSMUSG00000034109
AA Change: N315T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
32 |
N/A |
INTRINSIC |
|
coiled coil region
|
108 |
244 |
N/A |
INTRINSIC |
|
coiled coil region
|
323 |
354 |
N/A |
INTRINSIC |
|
coiled coil region
|
399 |
430 |
N/A |
INTRINSIC |
|
low complexity region
|
460 |
470 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
500 |
552 |
7.18e-7 |
PROSPERO |
|
low complexity region
|
566 |
578 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
601 |
646 |
7.18e-7 |
PROSPERO |
|
low complexity region
|
662 |
669 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131987
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134444
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000150904
AA Change: N81T
|
| SMART Domains |
Protein: ENSMUSP00000119501
Gene: ENSMUSG00000034109
AA Change: N81T
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
89 |
120 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167078
AA Change: N287T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000132910
Gene: ENSMUSG00000034109
AA Change: N287T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
32 |
N/A |
INTRINSIC |
|
coiled coil region
|
108 |
211 |
N/A |
INTRINSIC |
|
coiled coil region
|
295 |
326 |
N/A |
INTRINSIC |
|
coiled coil region
|
371 |
402 |
N/A |
INTRINSIC |
|
low complexity region
|
432 |
442 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
472 |
524 |
2.99e-6 |
PROSPERO |
|
low complexity region
|
538 |
550 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
573 |
618 |
2.99e-6 |
PROSPERO |
|
low complexity region
|
634 |
641 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (50/50) |
| 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-resident protein. It may process proteins synthesized in the rough endoplasmic reticulum and assist in the transport of protein cargo through the Golgi apparatus. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503E14Rik |
T |
A |
14: 44,406,690 (GRCm39) |
M120L |
probably benign |
Het |
| Aco2 |
A |
G |
15: 81,773,584 (GRCm39) |
|
probably null |
Het |
| Acss1 |
A |
G |
2: 150,501,823 (GRCm39) |
S115P |
possibly damaging |
Het |
| Ank2 |
A |
T |
3: 127,019,411 (GRCm39) |
|
probably null |
Het |
| AU041133 |
C |
T |
10: 81,987,316 (GRCm39) |
T323M |
probably damaging |
Het |
| Bdp1 |
T |
C |
13: 100,167,369 (GRCm39) |
D2215G |
probably damaging |
Het |
| Bod1l |
G |
A |
5: 41,977,870 (GRCm39) |
T1148I |
probably benign |
Het |
| Celsr1 |
C |
T |
15: 85,847,334 (GRCm39) |
V1468I |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,812,200 (GRCm39) |
V2065A |
probably damaging |
Het |
| Cep89 |
A |
G |
7: 35,115,822 (GRCm39) |
|
probably benign |
Het |
| Cfap58 |
A |
G |
19: 47,941,480 (GRCm39) |
K283E |
possibly damaging |
Het |
| Cog5 |
C |
T |
12: 31,710,853 (GRCm39) |
Q78* |
probably null |
Het |
| Col20a1 |
C |
T |
2: 180,643,043 (GRCm39) |
R796C |
possibly damaging |
Het |
| Dnah7b |
A |
T |
1: 46,165,840 (GRCm39) |
T502S |
probably benign |
Het |
| Dnm1l |
A |
G |
16: 16,160,559 (GRCm39) |
|
probably null |
Het |
| Dse |
A |
T |
10: 34,028,632 (GRCm39) |
F819L |
probably benign |
Het |
| Eloa |
G |
T |
4: 135,738,553 (GRCm39) |
L136I |
possibly damaging |
Het |
| Eloa |
T |
A |
4: 135,738,576 (GRCm39) |
H128L |
probably benign |
Het |
| Fbxl6 |
T |
C |
15: 76,421,924 (GRCm39) |
E205G |
possibly damaging |
Het |
| Gpx8 |
T |
A |
13: 113,179,682 (GRCm39) |
K206N |
possibly damaging |
Het |
| Iqgap3 |
G |
T |
3: 88,004,293 (GRCm39) |
V460F |
probably benign |
Het |
| Kcne4 |
A |
T |
1: 78,795,651 (GRCm39) |
M100L |
probably benign |
Het |
| Kmt2a |
A |
T |
9: 44,721,077 (GRCm39) |
|
probably benign |
Het |
| Ktn1 |
G |
A |
14: 47,962,387 (GRCm39) |
W1117* |
probably null |
Het |
| Lad1 |
A |
G |
1: 135,756,484 (GRCm39) |
D364G |
probably benign |
Het |
| Lmln |
T |
G |
16: 32,930,220 (GRCm39) |
I559S |
probably benign |
Het |
| Mapk4 |
A |
T |
18: 74,063,609 (GRCm39) |
F538I |
possibly damaging |
Het |
| Mlxipl |
A |
G |
5: 135,166,253 (GRCm39) |
|
probably benign |
Het |
| Mmrn1 |
T |
C |
6: 60,921,570 (GRCm39) |
L9P |
probably damaging |
Het |
| Mnat1 |
G |
A |
12: 73,228,601 (GRCm39) |
R155H |
probably damaging |
Het |
| Mtmr11 |
T |
C |
3: 96,075,207 (GRCm39) |
|
probably benign |
Het |
| Naaladl1 |
T |
C |
19: 6,165,581 (GRCm39) |
L745P |
probably damaging |
Het |
| Obsl1 |
A |
T |
1: 75,467,546 (GRCm39) |
D1409E |
probably benign |
Het |
| Oit3 |
T |
C |
10: 59,263,925 (GRCm39) |
Y403C |
probably damaging |
Het |
| Pla2g4e |
A |
T |
2: 120,013,194 (GRCm39) |
H375Q |
probably benign |
Het |
| Prodh2 |
G |
A |
7: 30,205,877 (GRCm39) |
V238M |
probably damaging |
Het |
| Rdh14 |
G |
A |
12: 10,441,231 (GRCm39) |
|
probably null |
Het |
| Rho |
G |
A |
6: 115,912,191 (GRCm39) |
V76I |
probably benign |
Het |
| Rock1 |
A |
T |
18: 10,080,514 (GRCm39) |
M1010K |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 52,038,800 (GRCm39) |
|
probably null |
Het |
| Sim1 |
A |
T |
10: 50,857,708 (GRCm39) |
D486V |
probably benign |
Het |
| Spmip6 |
T |
C |
4: 41,505,574 (GRCm39) |
T183A |
possibly damaging |
Het |
| Src |
A |
G |
2: 157,306,573 (GRCm39) |
D192G |
probably damaging |
Het |
| Stox1 |
T |
C |
10: 62,495,348 (GRCm39) |
N975S |
probably benign |
Het |
| Tmem145 |
A |
G |
7: 25,006,554 (GRCm39) |
Y54C |
probably damaging |
Het |
| Try4 |
C |
T |
6: 41,281,905 (GRCm39) |
P164S |
possibly damaging |
Het |
| Vegfc |
A |
T |
8: 54,634,130 (GRCm39) |
N270Y |
probably benign |
Het |
|
| Other mutations in Golim4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00529:Golim4
|
APN |
3 |
75,793,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01540:Golim4
|
APN |
3 |
75,794,047 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL01548:Golim4
|
APN |
3 |
75,815,432 (GRCm39) |
splice site |
probably null |
|
|
IGL01552:Golim4
|
APN |
3 |
75,863,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02218:Golim4
|
APN |
3 |
75,785,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02935:Golim4
|
APN |
3 |
75,802,299 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03087:Golim4
|
APN |
3 |
75,785,980 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1314:Golim4
|
UTSW |
3 |
75,793,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1436:Golim4
|
UTSW |
3 |
75,785,951 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1438:Golim4
|
UTSW |
3 |
75,863,440 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1686:Golim4
|
UTSW |
3 |
75,802,443 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1785:Golim4
|
UTSW |
3 |
75,815,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1786:Golim4
|
UTSW |
3 |
75,815,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1828:Golim4
|
UTSW |
3 |
75,809,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2057:Golim4
|
UTSW |
3 |
75,802,194 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R2130:Golim4
|
UTSW |
3 |
75,815,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2131:Golim4
|
UTSW |
3 |
75,815,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2133:Golim4
|
UTSW |
3 |
75,815,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2432:Golim4
|
UTSW |
3 |
75,799,249 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2517:Golim4
|
UTSW |
3 |
75,800,166 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3915:Golim4
|
UTSW |
3 |
75,810,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4976:Golim4
|
UTSW |
3 |
75,785,950 (GRCm39) |
splice site |
probably null |
|
|
R5102:Golim4
|
UTSW |
3 |
75,810,579 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5619:Golim4
|
UTSW |
3 |
75,813,802 (GRCm39) |
nonsense |
probably null |
|
|
R7051:Golim4
|
UTSW |
3 |
75,800,309 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7058:Golim4
|
UTSW |
3 |
75,785,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7303:Golim4
|
UTSW |
3 |
75,785,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7484:Golim4
|
UTSW |
3 |
75,805,442 (GRCm39) |
splice site |
probably null |
|
|
R7681:Golim4
|
UTSW |
3 |
75,794,331 (GRCm39) |
splice site |
probably null |
|
|
R7702:Golim4
|
UTSW |
3 |
75,794,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8354:Golim4
|
UTSW |
3 |
75,802,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8845:Golim4
|
UTSW |
3 |
75,802,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8911:Golim4
|
UTSW |
3 |
75,813,703 (GRCm39) |
splice site |
probably benign |
|
|
R8932:Golim4
|
UTSW |
3 |
75,805,351 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8993:Golim4
|
UTSW |
3 |
75,785,435 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9393:Golim4
|
UTSW |
3 |
75,785,464 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9445:Golim4
|
UTSW |
3 |
75,813,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9604:Golim4
|
UTSW |
3 |
75,815,435 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0062:Golim4
|
UTSW |
3 |
75,813,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAGGTGGGCTGCATTCTG -3'
(R):5'- AGACTCCGGGATTTTGCTTC -3'
Sequencing Primer
(F):5'- GGGCTGCATTCTGTCCCTG -3'
(R):5'- GCCCTTTTAGATGAGGTAATAGAAGC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation