Incidental Mutation 'R2517:Golim4'
ID |
253895 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Golim4
|
Ensembl Gene |
ENSMUSG00000034109 |
Gene Name |
golgi integral membrane protein 4 |
Synonyms |
3110027H23Rik, P138, GPP130, Golph4 |
MMRRC Submission |
040421-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.094)
|
Stock # |
R2517 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
75783490-75864256 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 75800166 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 443
(F443I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114006
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038563]
[ENSMUST00000117242]
[ENSMUST00000167078]
|
AlphaFold |
Q8BXA1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038563
AA Change: F415I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000048997 Gene: ENSMUSG00000034109 AA Change: F415I
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: F443I
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000114006 Gene: ENSMUSG00000034109 AA Change: F443I
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: ENSMUST00000134444
|
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 |
probably benign
Transcript: ENSMUST00000167078
AA Change: F415I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000132910 Gene: ENSMUSG00000034109 AA Change: F415I
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: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.2%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy4 |
C |
A |
14: 56,019,403 (GRCm39) |
E82D |
probably damaging |
Het |
Ago1 |
G |
A |
4: 126,333,732 (GRCm39) |
R486* |
probably null |
Het |
Ago2 |
T |
A |
15: 72,996,091 (GRCm39) |
N346I |
possibly damaging |
Het |
Apol11a |
A |
T |
15: 77,401,395 (GRCm39) |
D294V |
probably benign |
Het |
Atp13a5 |
A |
G |
16: 29,116,215 (GRCm39) |
F634L |
possibly damaging |
Het |
Atp2a2 |
G |
A |
5: 122,595,576 (GRCm39) |
P953L |
probably damaging |
Het |
Brca2 |
A |
G |
5: 150,463,137 (GRCm39) |
D967G |
probably benign |
Het |
Bud13 |
A |
T |
9: 46,199,446 (GRCm39) |
H269L |
probably benign |
Het |
Cachd1 |
A |
T |
4: 100,838,079 (GRCm39) |
|
probably null |
Het |
Cog3 |
T |
C |
14: 75,979,182 (GRCm39) |
D188G |
probably benign |
Het |
Col15a1 |
T |
C |
4: 47,208,492 (GRCm39) |
S20P |
probably damaging |
Het |
Col4a3 |
A |
G |
1: 82,658,431 (GRCm39) |
D838G |
unknown |
Het |
Cwh43 |
A |
T |
5: 73,578,886 (GRCm39) |
T298S |
probably benign |
Het |
Dip2c |
A |
G |
13: 9,659,041 (GRCm39) |
R847G |
probably damaging |
Het |
Dnah2 |
C |
T |
11: 69,407,470 (GRCm39) |
D438N |
probably damaging |
Het |
Drg2 |
T |
C |
11: 60,358,954 (GRCm39) |
V358A |
probably damaging |
Het |
Eif4enif1 |
T |
A |
11: 3,171,168 (GRCm39) |
W220R |
probably damaging |
Het |
Enpp2 |
A |
T |
15: 54,783,090 (GRCm39) |
I75K |
probably damaging |
Het |
Fam110c |
T |
C |
12: 31,125,238 (GRCm39) |
I400T |
probably damaging |
Het |
Fam193b |
C |
A |
13: 55,690,629 (GRCm39) |
R711L |
probably damaging |
Het |
Fgfr1 |
T |
C |
8: 26,053,462 (GRCm39) |
Y246H |
probably damaging |
Het |
Frs3 |
G |
A |
17: 48,013,997 (GRCm39) |
R230Q |
probably benign |
Het |
Galnt5 |
A |
G |
2: 57,889,425 (GRCm39) |
K342E |
probably benign |
Het |
Glrb |
A |
T |
3: 80,769,054 (GRCm39) |
L189Q |
probably damaging |
Het |
Gmeb2 |
T |
C |
2: 180,900,819 (GRCm39) |
T193A |
probably benign |
Het |
Gnl3 |
A |
G |
14: 30,736,120 (GRCm39) |
S307P |
probably damaging |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Klf10 |
A |
C |
15: 38,297,357 (GRCm39) |
Y228D |
probably benign |
Het |
Klrc3 |
A |
T |
6: 129,616,520 (GRCm39) |
W166R |
probably damaging |
Het |
Kng2 |
A |
T |
16: 22,807,065 (GRCm39) |
I378N |
probably benign |
Het |
Map3k10 |
T |
C |
7: 27,362,688 (GRCm39) |
K466R |
possibly damaging |
Het |
Mrrf |
C |
T |
2: 36,079,109 (GRCm39) |
T245M |
probably benign |
Het |
Msi1 |
A |
G |
5: 115,583,517 (GRCm39) |
Y239C |
probably damaging |
Het |
Nfasc |
A |
G |
1: 132,525,501 (GRCm39) |
|
probably null |
Het |
Or1x6 |
T |
A |
11: 50,939,300 (GRCm39) |
L122Q |
probably damaging |
Het |
Or7g25 |
A |
T |
9: 19,160,357 (GRCm39) |
C113S |
probably benign |
Het |
P3r3urf |
A |
G |
4: 116,030,791 (GRCm39) |
D65G |
probably benign |
Het |
Pkd1l1 |
T |
C |
11: 8,908,900 (GRCm39) |
E368G |
unknown |
Het |
Polq |
G |
A |
16: 36,909,687 (GRCm39) |
G2078D |
probably damaging |
Het |
Ppfibp1 |
A |
C |
6: 146,893,942 (GRCm39) |
I134L |
probably damaging |
Het |
Rasip1 |
A |
T |
7: 45,284,247 (GRCm39) |
I608F |
probably damaging |
Het |
Ripk3 |
A |
T |
14: 56,025,492 (GRCm39) |
V24E |
probably damaging |
Het |
Rtkn |
T |
A |
6: 83,124,526 (GRCm39) |
I110N |
probably damaging |
Het |
Scn1a |
C |
T |
2: 66,104,176 (GRCm39) |
V1695I |
probably damaging |
Het |
Shank2 |
A |
G |
7: 143,606,042 (GRCm39) |
N75S |
possibly damaging |
Het |
Snu13 |
C |
A |
15: 81,928,182 (GRCm39) |
A14S |
probably benign |
Het |
Snx27 |
A |
C |
3: 94,438,541 (GRCm39) |
D231E |
probably damaging |
Het |
Spef2 |
A |
G |
15: 9,725,283 (GRCm39) |
I158T |
possibly damaging |
Het |
Sptb |
A |
G |
12: 76,696,643 (GRCm39) |
I19T |
possibly damaging |
Het |
Ssu72 |
T |
C |
4: 155,817,970 (GRCm39) |
L175P |
probably damaging |
Het |
Tcstv2a |
T |
A |
13: 120,725,475 (GRCm39) |
C46* |
probably null |
Het |
Tecr |
C |
T |
8: 84,299,204 (GRCm39) |
V248I |
probably benign |
Het |
Tnfrsf13b |
T |
G |
11: 61,032,302 (GRCm39) |
S59A |
probably benign |
Het |
Tom1l1 |
T |
C |
11: 90,561,951 (GRCm39) |
T150A |
possibly damaging |
Het |
Ubr3 |
A |
T |
2: 69,766,362 (GRCm39) |
Y410F |
probably damaging |
Het |
Vmn2r108 |
A |
G |
17: 20,692,577 (GRCm39) |
I93T |
probably damaging |
Het |
Vmn2r19 |
A |
G |
6: 123,306,937 (GRCm39) |
T482A |
probably benign |
Het |
Vstm4 |
T |
A |
14: 32,585,664 (GRCm39) |
M77K |
probably benign |
Het |
Zbtb17 |
C |
T |
4: 141,191,896 (GRCm39) |
T309I |
probably damaging |
Het |
Zfp957 |
T |
C |
14: 79,451,494 (GRCm39) |
T102A |
probably 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 |
R3915:Golim4
|
UTSW |
3 |
75,810,634 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- GCCTTCATGAGCTATATAGGTTTG -3'
(R):5'- CCCCTTCTAGCTCAGCATGAAG -3'
Sequencing Primer
(F):5'- TCATGAGCTATATAGGTTTGTCCTC -3'
(R):5'- GCATGAAGCCCTTTTATTCTAGG -3'
|
Posted On |
2014-12-04 |