Incidental Mutation 'IGL02218:Golim4'
| ID |
284983 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Golim4
|
| Ensembl Gene |
ENSMUSG00000034109 |
| Gene Name |
golgi integral membrane protein 4 |
| Synonyms |
3110027H23Rik, P138, GPP130, Golph4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
IGL02218
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
75783490-75864256 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75785361 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 677
(S677P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114006
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038563]
[ENSMUST00000117242]
[ENSMUST00000167078]
|
| AlphaFold |
Q8BXA1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038563
AA Change: S649P
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000048997
Gene: ENSMUSG00000034109
AA Change: S649P
| 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: S677P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114006
Gene: ENSMUSG00000034109
AA Change: S677P
| 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: ENSMUST00000134219
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167078
AA Change: S649P
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000132910
Gene: ENSMUSG00000034109
AA Change: S649P
| 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 |
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730409E04Rik |
A |
G |
4: 126,505,838 (GRCm39) |
D122G |
probably benign |
Het |
| Abcc8 |
T |
C |
7: 45,769,860 (GRCm39) |
D885G |
probably benign |
Het |
| Abcf1 |
T |
C |
17: 36,269,230 (GRCm39) |
K676R |
probably benign |
Het |
| Acsf2 |
A |
G |
11: 94,492,589 (GRCm39) |
V3A |
probably benign |
Het |
| Apba2 |
C |
T |
7: 64,345,425 (GRCm39) |
T205I |
probably benign |
Het |
| Bricd5 |
C |
A |
17: 24,694,296 (GRCm39) |
Y171* |
probably null |
Het |
| Camk2d |
T |
G |
3: 126,633,802 (GRCm39) |
N441K |
probably benign |
Het |
| Carm1 |
T |
C |
9: 21,480,808 (GRCm39) |
V94A |
probably damaging |
Het |
| Chd3 |
C |
T |
11: 69,242,920 (GRCm39) |
|
probably benign |
Het |
| Cipc |
A |
G |
12: 87,008,702 (GRCm39) |
N166S |
probably damaging |
Het |
| Cln5 |
A |
C |
14: 103,313,276 (GRCm39) |
|
probably null |
Het |
| Cnbd1 |
C |
A |
4: 18,887,739 (GRCm39) |
Q258H |
probably benign |
Het |
| Cyp8b1 |
A |
G |
9: 121,744,183 (GRCm39) |
L383P |
probably damaging |
Het |
| Dnai4 |
A |
G |
4: 102,953,971 (GRCm39) |
V76A |
probably damaging |
Het |
| Dok3 |
A |
G |
13: 55,671,599 (GRCm39) |
L324P |
probably damaging |
Het |
| Eftud2 |
A |
T |
11: 102,761,039 (GRCm39) |
F102Y |
possibly damaging |
Het |
| Ewsr1 |
G |
A |
11: 5,020,668 (GRCm39) |
P551S |
unknown |
Het |
| Fam193a |
G |
T |
5: 34,600,932 (GRCm39) |
V346L |
possibly damaging |
Het |
| Gpr149 |
A |
G |
3: 62,437,952 (GRCm39) |
|
probably benign |
Het |
| Ins1 |
A |
T |
19: 52,253,121 (GRCm39) |
K20N |
probably benign |
Het |
| Itpr2 |
A |
T |
6: 146,141,760 (GRCm39) |
|
probably benign |
Het |
| Jup |
G |
A |
11: 100,272,665 (GRCm39) |
T249I |
probably damaging |
Het |
| Kctd20 |
T |
A |
17: 29,176,877 (GRCm39) |
N2K |
probably benign |
Het |
| Kif15 |
A |
G |
9: 122,824,892 (GRCm39) |
|
probably benign |
Het |
| Klrb1-ps1 |
T |
C |
6: 129,106,269 (GRCm39) |
|
noncoding transcript |
Het |
| Krtap29-1 |
T |
C |
11: 99,869,884 (GRCm39) |
|
probably null |
Het |
| Lamb3 |
A |
T |
1: 193,010,941 (GRCm39) |
|
probably null |
Het |
| Large1 |
A |
G |
8: 73,638,750 (GRCm39) |
W276R |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,185,684 (GRCm39) |
N603D |
probably benign |
Het |
| Lrrc37a |
A |
G |
11: 103,391,207 (GRCm39) |
V1406A |
probably benign |
Het |
| Lrrc74a |
A |
G |
12: 86,795,822 (GRCm39) |
D265G |
probably benign |
Het |
| Lrrfip2 |
G |
A |
9: 111,048,793 (GRCm39) |
C250Y |
probably benign |
Het |
| Mbtd1 |
A |
G |
11: 93,822,629 (GRCm39) |
|
probably benign |
Het |
| Msr1 |
A |
G |
8: 40,042,357 (GRCm39) |
V406A |
possibly damaging |
Het |
| Mtfr1l |
C |
T |
4: 134,256,491 (GRCm39) |
D225N |
probably benign |
Het |
| Nckap1l |
T |
A |
15: 103,391,954 (GRCm39) |
S796R |
possibly damaging |
Het |
| Oaf |
T |
A |
9: 43,136,219 (GRCm39) |
H119L |
probably benign |
Het |
| Or4d1 |
A |
T |
11: 87,804,889 (GRCm39) |
M281K |
probably damaging |
Het |
| Pik3c2g |
A |
T |
6: 139,806,081 (GRCm39) |
H516L |
probably damaging |
Het |
| Pkd1l3 |
A |
T |
8: 110,387,434 (GRCm39) |
I1793F |
possibly damaging |
Het |
| Ptpra |
A |
G |
2: 130,394,255 (GRCm39) |
|
probably benign |
Het |
| Slc25a27 |
C |
T |
17: 43,974,964 (GRCm39) |
|
probably null |
Het |
| Slc2a2 |
A |
T |
3: 28,752,174 (GRCm39) |
E3D |
possibly damaging |
Het |
| Slc35f5 |
T |
C |
1: 125,512,292 (GRCm39) |
F14S |
probably damaging |
Het |
| Sspn |
T |
C |
6: 145,907,112 (GRCm39) |
V105A |
probably damaging |
Het |
| Syvn1 |
T |
C |
19: 6,100,229 (GRCm39) |
I263T |
probably damaging |
Het |
| Tek |
A |
C |
4: 94,743,574 (GRCm39) |
D863A |
probably damaging |
Het |
| Tent5b |
C |
T |
4: 133,213,462 (GRCm39) |
A111V |
probably damaging |
Het |
| Tm9sf4 |
G |
T |
2: 153,046,536 (GRCm39) |
V592F |
probably benign |
Het |
| Tmem259 |
A |
G |
10: 79,814,151 (GRCm39) |
M354T |
possibly damaging |
Het |
| Ttf2 |
T |
C |
3: 100,871,409 (GRCm39) |
E84G |
possibly damaging |
Het |
| Ttyh3 |
T |
C |
5: 140,612,246 (GRCm39) |
E487G |
probably damaging |
Het |
| Ubtf |
C |
A |
11: 102,197,526 (GRCm39) |
E709* |
probably null |
Het |
| Vmn1r119 |
T |
C |
7: 20,745,561 (GRCm39) |
R274G |
probably benign |
Het |
| Zfp804a |
A |
G |
2: 82,089,546 (GRCm39) |
Q1125R |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation