Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01552:Golim4'

90612

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Golim4

Ensembl Gene

ENSMUSG00000034109

Gene Name

golgi integral membrane protein 4

Synonyms

3110027H23Rik, P138, Golph4, GPP130

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

IGL01552

Quality Score

Status

Chromosome

Chromosomal Location

75875084-75956949 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75956195 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 35 (E35G)

Ref Sequence

ENSEMBL: ENSMUSP00000132910 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038563] [ENSMUST00000117242] [ENSMUST00000167078]

Predicted Effect

probably damaging
Transcript: ENSMUST00000038563
AA Change: E35G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000048997
Gene: ENSMUSG00000034109
AA Change: E35G

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: E35G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114006
Gene: ENSMUSG00000034109
AA Change: E35G

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: ENSMUST00000125405

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131987

Predicted Effect

probably damaging
Transcript: ENSMUST00000167078
AA Change: E35G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132910
Gene: ENSMUSG00000034109
AA Change: E35G

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

noncoding transcript
Transcript: ENSMUST00000192433

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193034

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193507

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	A	G	3: 108,481,312	W252R	possibly damaging	Het
Arl8a	T	C	1: 135,152,868		probably null	Het
Bivm	A	G	1: 44,126,773	N128D	probably benign	Het
Chil3	C	A	3: 106,148,848	G330V	probably damaging	Het
Dscaml1	A	G	9: 45,447,908	H155R	probably damaging	Het
Etl4	T	A	2: 20,778,189	V687D	probably damaging	Het
Fbxw10	A	T	11: 62,857,684		probably null	Het
Gfpt2	G	T	11: 49,805,005	E21*	probably null	Het
Gm10197	C	T	19: 53,371,691	V26I	possibly damaging	Het
Gm4788	A	G	1: 139,739,302	Y412H	probably damaging	Het
Gm6614	T	C	6: 141,987,706	K451R	possibly damaging	Het
Igdcc4	A	G	9: 65,122,502		probably benign	Het
Ino80d	A	G	1: 63,057,977		probably benign	Het
Ipo13	A	G	4: 117,900,964	M734T	probably benign	Het
Klk1b27	C	T	7: 44,054,615	L61F	probably damaging	Het
Lamtor5	T	C	3: 107,279,008	V31A	probably benign	Het
Lrp1	A	T	10: 127,588,510	L769*	probably null	Het
Nipsnap1	A	T	11: 4,889,124	S135C	probably damaging	Het
Olfr1277	C	A	2: 111,269,912	G152C	probably damaging	Het
Pparg	A	T	6: 115,490,122	H452L	probably benign	Het
Rab34	C	T	11: 78,191,438	A202V	probably damaging	Het
Ryr3	T	A	2: 112,825,883	T1923S	possibly damaging	Het
Sall4	A	G	2: 168,756,123	S266P	probably damaging	Het
Sh2d4b	T	C	14: 40,860,648	Q195R	probably benign	Het
Sik2	C	A	9: 50,917,522		probably benign	Het
Slc25a36	A	G	9: 97,079,233	V111A	probably benign	Het
Sptbn5	A	T	2: 120,054,422		probably benign	Het
Tac2	G	A	10: 127,726,101	E25K	possibly damaging	Het
Tnc	A	G	4: 63,970,408	V1807A	probably damaging	Het
Top3b	T	C	16: 16,887,823		probably benign	Het
Zfp827	A	G	8: 79,076,191	E464G	probably damaging	Het

Other mutations in Golim4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00529:Golim4	APN	3	75886311	missense	probably damaging	1.00
IGL01540:Golim4	APN	3	75886740	missense	possibly damaging	0.81
IGL01548:Golim4	APN	3	75908125	splice site	probably null
IGL02218:Golim4	APN	3	75878054	missense	probably damaging	1.00
IGL02935:Golim4	APN	3	75894992	missense	possibly damaging	0.86
IGL03087:Golim4	APN	3	75878673	missense	possibly damaging	0.94
R1314:Golim4	UTSW	3	75886288	missense	probably damaging	1.00
R1436:Golim4	UTSW	3	75878644	critical splice donor site	probably null
R1438:Golim4	UTSW	3	75956133	missense	probably damaging	0.99
R1686:Golim4	UTSW	3	75895136	missense	probably benign	0.00
R1785:Golim4	UTSW	3	75908149	missense	probably damaging	1.00
R1786:Golim4	UTSW	3	75908149	missense	probably damaging	1.00
R1828:Golim4	UTSW	3	75902438	missense	probably damaging	1.00
R2057:Golim4	UTSW	3	75894887	missense	possibly damaging	0.62
R2130:Golim4	UTSW	3	75908149	missense	probably damaging	1.00
R2131:Golim4	UTSW	3	75908149	missense	probably damaging	1.00
R2133:Golim4	UTSW	3	75908149	missense	probably damaging	1.00
R2432:Golim4	UTSW	3	75891942	missense	possibly damaging	0.93
R2517:Golim4	UTSW	3	75892859	missense	probably benign	0.01
R3915:Golim4	UTSW	3	75903327	missense	probably damaging	1.00
R4414:Golim4	UTSW	3	75895040	missense	probably benign	0.00
R4976:Golim4	UTSW	3	75878643	splice site	probably null
R5102:Golim4	UTSW	3	75903272	missense	possibly damaging	0.87
R5619:Golim4	UTSW	3	75906495	nonsense	probably null
R7051:Golim4	UTSW	3	75893002	missense	probably benign	0.07
R7058:Golim4	UTSW	3	75878650	missense	probably damaging	1.00
R7303:Golim4	UTSW	3	75878053	missense	probably damaging	1.00
R7484:Golim4	UTSW	3	75898135	splice site	probably null
R7681:Golim4	UTSW	3	75887024	splice site	probably null
R7702:Golim4	UTSW	3	75886784	missense	probably damaging	1.00
R8354:Golim4	UTSW	3	75895001	missense	probably damaging	1.00
X0062:Golim4	UTSW	3	75906419	missense	probably damaging	1.00

Posted On

2013-12-09