Incidental Mutation 'IGL01540:Golim4'
ID |
90118 |
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 # |
IGL01540
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
75783490-75864256 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 75794047 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Alanine
at position 538
(E538A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132910
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038563]
[ENSMUST00000117242]
[ENSMUST00000167078]
|
AlphaFold |
Q8BXA1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038563
AA Change: E538A
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000048997 Gene: ENSMUSG00000034109 AA Change: E538A
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: E566A
PolyPhen 2
Score 0.597 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000114006 Gene: ENSMUSG00000034109 AA Change: E566A
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 |
possibly damaging
Transcript: ENSMUST00000167078
AA Change: E538A
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000132910 Gene: ENSMUSG00000034109 AA Change: E538A
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: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
A |
G |
1: 25,151,252 (GRCm39) |
|
probably null |
Het |
Ceacam12 |
T |
C |
7: 17,805,727 (GRCm39) |
|
probably benign |
Het |
Cyp2j13 |
A |
T |
4: 95,956,959 (GRCm39) |
|
probably benign |
Het |
Gstcd |
A |
T |
3: 132,692,175 (GRCm39) |
V580D |
probably damaging |
Het |
Hspg2 |
A |
G |
4: 137,247,017 (GRCm39) |
T1115A |
probably damaging |
Het |
Maea |
T |
C |
5: 33,515,910 (GRCm39) |
S18P |
probably benign |
Het |
Mertk |
T |
C |
2: 128,625,887 (GRCm39) |
L674P |
probably damaging |
Het |
Nol8 |
A |
T |
13: 49,815,146 (GRCm39) |
Q400L |
probably benign |
Het |
Nt5el |
T |
C |
13: 105,218,761 (GRCm39) |
S32P |
possibly damaging |
Het |
Or10a3b |
G |
T |
7: 108,444,887 (GRCm39) |
T110N |
probably damaging |
Het |
Or6b2 |
A |
G |
1: 92,408,202 (GRCm39) |
L47P |
probably damaging |
Het |
Pycard |
T |
A |
7: 127,592,002 (GRCm39) |
D113V |
probably benign |
Het |
S100z |
G |
A |
13: 95,613,861 (GRCm39) |
T83M |
probably damaging |
Het |
Sacs |
A |
G |
14: 61,429,084 (GRCm39) |
D381G |
possibly damaging |
Het |
Spata31h1 |
A |
T |
10: 82,120,016 (GRCm39) |
H4331Q |
possibly damaging |
Het |
Tbpl2 |
T |
C |
2: 23,984,985 (GRCm39) |
H53R |
probably benign |
Het |
Tlr6 |
T |
C |
5: 65,112,629 (GRCm39) |
R93G |
probably damaging |
Het |
Trabd |
A |
G |
15: 88,968,998 (GRCm39) |
E172G |
probably benign |
Het |
Vrk3 |
A |
G |
7: 44,416,568 (GRCm39) |
H277R |
probably damaging |
Het |
Zfp512 |
T |
C |
5: 31,630,840 (GRCm39) |
V338A |
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 |
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 |
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 |
2013-12-03 |