Incidental Mutation 'R3915:Golim4'
| ID |
309584 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Golim4
|
| Ensembl Gene |
ENSMUSG00000034109 |
| Gene Name |
golgi integral membrane protein 4 |
| Synonyms |
3110027H23Rik, P138, GPP130, Golph4 |
| MMRRC Submission |
040913-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R3915 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
75783490-75864256 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75810634 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 174
(T174A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114006
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038563]
[ENSMUST00000117242]
[ENSMUST00000167078]
|
| AlphaFold |
Q8BXA1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038563
AA Change: T174A
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000048997
Gene: ENSMUSG00000034109
AA Change: T174A
| 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 damaging
Transcript: ENSMUST00000117242
AA Change: T174A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114006
Gene: ENSMUSG00000034109
AA Change: T174A
| 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 |
probably benign
Transcript: ENSMUST00000150904
|
| SMART Domains |
Protein: ENSMUSP00000119501
Gene: ENSMUSG00000034109
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
89 |
120 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167078
AA Change: T174A
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000132910
Gene: ENSMUSG00000034109
AA Change: T174A
| 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 |
0.0748 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
98% (43/44) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
G |
A |
5: 3,627,248 (GRCm39) |
V75I |
possibly damaging |
Het |
| AA986860 |
A |
G |
1: 130,670,344 (GRCm39) |
K189E |
probably benign |
Het |
| Abcf1 |
C |
T |
17: 36,270,402 (GRCm39) |
R596H |
possibly damaging |
Het |
| Abtb3 |
C |
A |
10: 85,468,134 (GRCm39) |
H810N |
probably damaging |
Het |
| Axl |
T |
C |
7: 25,460,169 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,886,603 (GRCm39) |
K644E |
probably benign |
Het |
| Btnl7-ps |
T |
A |
17: 34,760,489 (GRCm39) |
|
noncoding transcript |
Het |
| Car8 |
A |
T |
4: 8,184,576 (GRCm39) |
|
probably benign |
Het |
| Ccdc62 |
C |
T |
5: 124,092,778 (GRCm39) |
R588C |
probably damaging |
Het |
| Clasp2 |
T |
G |
9: 113,737,805 (GRCm39) |
S374A |
probably damaging |
Het |
| Ctnnb1 |
A |
G |
9: 120,784,717 (GRCm39) |
H503R |
probably benign |
Het |
| Cwf19l2 |
A |
G |
9: 3,456,776 (GRCm39) |
H703R |
probably damaging |
Het |
| Efcab7 |
A |
T |
4: 99,735,375 (GRCm39) |
Q133L |
probably damaging |
Het |
| Ehmt2 |
T |
C |
17: 35,122,443 (GRCm39) |
S280P |
probably damaging |
Het |
| Eif4a3l1 |
A |
T |
6: 136,306,420 (GRCm39) |
T294S |
probably benign |
Het |
| Eomes |
A |
G |
9: 118,310,341 (GRCm39) |
M351V |
probably benign |
Het |
| Ets2 |
G |
A |
16: 95,520,037 (GRCm39) |
R421H |
probably damaging |
Het |
| Fam222b |
C |
G |
11: 78,045,756 (GRCm39) |
P439R |
probably benign |
Het |
| Gbp11 |
T |
A |
5: 105,478,978 (GRCm39) |
K153N |
probably damaging |
Het |
| Grid1 |
A |
G |
14: 35,242,684 (GRCm39) |
Y679C |
probably damaging |
Het |
| Gvin-ps5 |
A |
G |
7: 105,929,445 (GRCm39) |
S151P |
probably benign |
Het |
| Ikzf3 |
T |
C |
11: 98,381,412 (GRCm39) |
D56G |
probably damaging |
Het |
| Kcnj16 |
A |
G |
11: 110,916,382 (GRCm39) |
D348G |
probably benign |
Het |
| Kidins220 |
T |
C |
12: 25,103,957 (GRCm39) |
L1319P |
possibly damaging |
Het |
| Lrp1b |
T |
A |
2: 41,339,248 (GRCm39) |
D751V |
probably damaging |
Het |
| Macc1 |
T |
C |
12: 119,410,551 (GRCm39) |
C440R |
probably benign |
Het |
| Mbd2 |
T |
C |
18: 70,755,680 (GRCm39) |
V382A |
probably benign |
Het |
| Or13a17 |
T |
A |
7: 140,270,888 (GRCm39) |
D23E |
probably benign |
Het |
| Or51a25 |
C |
T |
7: 102,373,409 (GRCm39) |
R96H |
possibly damaging |
Het |
| Or6c68 |
G |
A |
10: 129,158,178 (GRCm39) |
A229T |
probably benign |
Het |
| Pgs1 |
T |
G |
11: 117,910,472 (GRCm39) |
S528A |
probably benign |
Het |
| Pitpnm3 |
T |
C |
11: 72,003,110 (GRCm39) |
T67A |
probably damaging |
Het |
| Pnliprp2 |
T |
G |
19: 58,748,794 (GRCm39) |
V33G |
probably damaging |
Het |
| Ptn |
T |
C |
6: 36,720,282 (GRCm39) |
N90S |
probably damaging |
Het |
| Ptprt |
A |
T |
2: 161,397,475 (GRCm39) |
|
probably benign |
Het |
| Ranbp17 |
G |
A |
11: 33,429,189 (GRCm39) |
A352V |
probably benign |
Het |
| Rasgrp1 |
G |
A |
2: 117,119,122 (GRCm39) |
S505F |
probably damaging |
Het |
| Sesn1 |
G |
A |
10: 41,770,886 (GRCm39) |
R139H |
probably benign |
Het |
| Slc17a7 |
T |
A |
7: 44,818,144 (GRCm39) |
L23Q |
probably damaging |
Het |
| Slc30a10 |
G |
T |
1: 185,187,333 (GRCm39) |
E25* |
probably null |
Het |
| Smco1 |
A |
G |
16: 32,092,583 (GRCm39) |
I85V |
probably benign |
Het |
| Vmn1r76 |
A |
T |
7: 11,664,496 (GRCm39) |
S239R |
probably benign |
Het |
| Zc3h7a |
A |
T |
16: 10,974,074 (GRCm39) |
V237D |
possibly damaging |
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 |
|
R4414:Golim4
|
UTSW |
3 |
75,802,347 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- TTGGTGATGAGCTCGCAAAG -3'
(R):5'- CCTTGGAACCCATGTCATATGC -3'
Sequencing Primer
(F):5'- CAAGGACATTAGATTCCCTGGAGTTG -3'
(R):5'- GGAACCCATGTCATATGCCTCTATG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation