Incidental Mutation 'R5102:Golim4'
| ID |
392406 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Golim4
|
| Ensembl Gene |
ENSMUSG00000034109 |
| Gene Name |
golgi integral membrane protein 4 |
| Synonyms |
3110027H23Rik, P138, Golph4, GPP130 |
| MMRRC Submission |
042690-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R5102 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
75875084-75956949 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75903272 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 192
(I192T)
|
| 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: I192T
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000048997
Gene: ENSMUSG00000034109
AA Change: I192T
| 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 |
possibly damaging
Transcript: ENSMUST00000117242
AA Change: I192T
PolyPhen 2
Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000114006
Gene: ENSMUSG00000034109
AA Change: I192T
| 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: I192T
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000132910
Gene: ENSMUSG00000034109
AA Change: I192T
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.3%
|
| Validation Efficiency |
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810006K23Rik |
A |
G |
5: 124,338,891 (GRCm38) |
N83D |
probably damaging |
Het |
| Aox4 |
C |
T |
1: 58,240,778 (GRCm38) |
R518C |
probably damaging |
Het |
| Apbb2 |
A |
T |
5: 66,312,249 (GRCm38) |
|
probably null |
Het |
| Arhgap45 |
C |
T |
10: 80,021,428 (GRCm38) |
P254S |
probably benign |
Het |
| Arl4c |
T |
C |
1: 88,701,600 (GRCm38) |
D22G |
probably damaging |
Het |
| Asxl1 |
A |
G |
2: 153,400,955 (GRCm38) |
T1142A |
probably benign |
Het |
| BC035044 |
T |
C |
6: 128,884,986 (GRCm38) |
|
probably benign |
Het |
| Bmp4 |
T |
C |
14: 46,384,001 (GRCm38) |
N362S |
probably damaging |
Het |
| Cbll1 |
G |
T |
12: 31,487,913 (GRCm38) |
T280N |
probably damaging |
Het |
| Cdh10 |
A |
T |
15: 18,986,885 (GRCm38) |
T401S |
probably benign |
Het |
| Cps1 |
A |
T |
1: 67,206,793 (GRCm38) |
M1148L |
probably benign |
Het |
| Crybg1 |
T |
C |
10: 43,997,836 (GRCm38) |
D1092G |
probably damaging |
Het |
| Cyth2 |
A |
G |
7: 45,810,702 (GRCm38) |
S173P |
probably damaging |
Het |
| D3Ertd254e |
G |
A |
3: 36,162,665 (GRCm38) |
C55Y |
possibly damaging |
Het |
| D6Ertd527e |
A |
T |
6: 87,111,811 (GRCm38) |
I319F |
unknown |
Het |
| Dchs1 |
A |
T |
7: 105,772,177 (GRCm38) |
H345Q |
probably benign |
Het |
| Ddx50 |
A |
T |
10: 62,640,861 (GRCm38) |
V211E |
probably damaging |
Het |
| Dlx6 |
AGG |
AG |
6: 6,865,180 (GRCm38) |
|
probably null |
Het |
| Dnajb5 |
G |
A |
4: 42,956,639 (GRCm38) |
D109N |
possibly damaging |
Het |
| Dner |
A |
T |
1: 84,405,970 (GRCm38) |
N564K |
probably damaging |
Het |
| Fam234b |
T |
C |
6: 135,209,284 (GRCm38) |
S97P |
probably benign |
Het |
| Fam53b |
G |
A |
7: 132,715,955 (GRCm38) |
R60* |
probably null |
Het |
| Fmo3 |
T |
G |
1: 162,963,977 (GRCm38) |
K244Q |
probably benign |
Het |
| Gm12800 |
T |
C |
4: 101,909,239 (GRCm38) |
F40S |
probably damaging |
Het |
| Gpr1 |
A |
G |
1: 63,183,167 (GRCm38) |
V303A |
probably damaging |
Het |
| Gprin1 |
T |
C |
13: 54,739,763 (GRCm38) |
M233V |
probably benign |
Het |
| Gtf2f1 |
A |
T |
17: 57,003,626 (GRCm38) |
V443D |
probably damaging |
Het |
| H2afy |
C |
G |
13: 56,096,123 (GRCm38) |
|
probably null |
Het |
| Hmgcs2 |
T |
C |
3: 98,280,470 (GRCm38) |
|
probably benign |
Het |
| Ide |
T |
A |
19: 37,314,984 (GRCm38) |
I271L |
unknown |
Het |
| Kat8 |
G |
A |
7: 127,924,816 (GRCm38) |
E343K |
probably damaging |
Het |
| Kif14 |
A |
G |
1: 136,516,403 (GRCm38) |
I1378V |
probably benign |
Het |
| Lhx3 |
TCCTACGGGCCGGCCC |
TCC |
2: 26,201,423 (GRCm38) |
|
probably null |
Het |
| Lhx6 |
T |
C |
2: 36,094,210 (GRCm38) |
|
probably null |
Het |
| Lrp2 |
C |
T |
2: 69,489,158 (GRCm38) |
G2007D |
probably damaging |
Het |
| Lrp5 |
T |
C |
19: 3,659,304 (GRCm38) |
K142R |
probably damaging |
Het |
| Mrpl2 |
G |
A |
17: 46,650,038 (GRCm38) |
R286Q |
probably benign |
Het |
| Nacad |
T |
A |
11: 6,598,528 (GRCm38) |
D1402V |
probably damaging |
Het |
| Ndfip2 |
T |
C |
14: 105,298,105 (GRCm38) |
I275T |
possibly damaging |
Het |
| Neb |
A |
C |
2: 52,226,570 (GRCm38) |
V4131G |
possibly damaging |
Het |
| Nfe2l1 |
G |
A |
11: 96,822,108 (GRCm38) |
A83V |
probably damaging |
Het |
| Nos3 |
A |
G |
5: 24,371,627 (GRCm38) |
D418G |
probably damaging |
Het |
| Olfr1126 |
A |
T |
2: 87,457,794 (GRCm38) |
M210L |
probably benign |
Het |
| Olfr353 |
T |
A |
2: 36,890,044 (GRCm38) |
K268M |
possibly damaging |
Het |
| Plcd4 |
A |
G |
1: 74,565,154 (GRCm38) |
T764A |
probably damaging |
Het |
| Plppr3 |
G |
T |
10: 79,865,386 (GRCm38) |
P541T |
possibly damaging |
Het |
| Polr2a |
A |
G |
11: 69,746,945 (GRCm38) |
I191T |
possibly damaging |
Het |
| Rab11fip1 |
T |
C |
8: 27,156,374 (GRCm38) |
K225E |
probably damaging |
Het |
| Rara |
A |
T |
11: 98,966,359 (GRCm38) |
Q64L |
possibly damaging |
Het |
| Rtkn |
G |
A |
6: 83,149,773 (GRCm38) |
V305M |
probably damaging |
Het |
| Sh2b1 |
A |
C |
7: 126,471,236 (GRCm38) |
F399V |
probably benign |
Het |
| Slc7a4 |
T |
C |
16: 17,575,618 (GRCm38) |
T106A |
probably damaging |
Het |
| Srcap |
G |
A |
7: 127,530,623 (GRCm38) |
G539D |
probably damaging |
Het |
| Stab1 |
C |
T |
14: 31,148,017 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Golim4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00529:Golim4
|
APN |
3 |
75,886,311 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01540:Golim4
|
APN |
3 |
75,886,740 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
IGL01548:Golim4
|
APN |
3 |
75,908,125 (GRCm38) |
splice site |
probably null |
|
|
IGL01552:Golim4
|
APN |
3 |
75,956,195 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02218:Golim4
|
APN |
3 |
75,878,054 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02935:Golim4
|
APN |
3 |
75,894,992 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
IGL03087:Golim4
|
APN |
3 |
75,878,673 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R1314:Golim4
|
UTSW |
3 |
75,886,288 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1436:Golim4
|
UTSW |
3 |
75,878,644 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1438:Golim4
|
UTSW |
3 |
75,956,133 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1686:Golim4
|
UTSW |
3 |
75,895,136 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1785:Golim4
|
UTSW |
3 |
75,908,149 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1786:Golim4
|
UTSW |
3 |
75,908,149 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1828:Golim4
|
UTSW |
3 |
75,902,438 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2057:Golim4
|
UTSW |
3 |
75,894,887 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R2130:Golim4
|
UTSW |
3 |
75,908,149 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2131:Golim4
|
UTSW |
3 |
75,908,149 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2133:Golim4
|
UTSW |
3 |
75,908,149 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2432:Golim4
|
UTSW |
3 |
75,891,942 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R2517:Golim4
|
UTSW |
3 |
75,892,859 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3915:Golim4
|
UTSW |
3 |
75,903,327 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4414:Golim4
|
UTSW |
3 |
75,895,040 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4976:Golim4
|
UTSW |
3 |
75,878,643 (GRCm38) |
splice site |
probably null |
|
|
R5619:Golim4
|
UTSW |
3 |
75,906,495 (GRCm38) |
nonsense |
probably null |
|
|
R7051:Golim4
|
UTSW |
3 |
75,893,002 (GRCm38) |
missense |
probably benign |
0.07 |
|
R7058:Golim4
|
UTSW |
3 |
75,878,650 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7303:Golim4
|
UTSW |
3 |
75,878,053 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7484:Golim4
|
UTSW |
3 |
75,898,135 (GRCm38) |
splice site |
probably null |
|
|
R7681:Golim4
|
UTSW |
3 |
75,887,024 (GRCm38) |
splice site |
probably null |
|
|
R7702:Golim4
|
UTSW |
3 |
75,886,784 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8354:Golim4
|
UTSW |
3 |
75,895,001 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8845:Golim4
|
UTSW |
3 |
75,894,965 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8911:Golim4
|
UTSW |
3 |
75,906,396 (GRCm38) |
splice site |
probably benign |
|
|
R8932:Golim4
|
UTSW |
3 |
75,898,044 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8993:Golim4
|
UTSW |
3 |
75,878,128 (GRCm38) |
missense |
probably benign |
0.25 |
|
R9393:Golim4
|
UTSW |
3 |
75,878,157 (GRCm38) |
missense |
probably benign |
0.04 |
|
R9445:Golim4
|
UTSW |
3 |
75,906,468 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9604:Golim4
|
UTSW |
3 |
75,908,128 (GRCm38) |
critical splice donor site |
probably null |
|
|
X0062:Golim4
|
UTSW |
3 |
75,906,419 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGTGATGAGCTCGCAAAG -3'
(R):5'- CCCAATACTTTGCTGTTGAAGTTC -3'
Sequencing Primer
(F):5'- CAAGGACATTAGATTCCCTGGAGTTG -3'
(R):5'- GCTGTTGAAGTTCAAAATACACCTTG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation