Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00529:Golim4'

13510

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) question?

Stock #

IGL00529

Quality Score

Status

Chromosome

Chromosomal Location

75783490-75864256 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 75793618 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 599 (N599K)

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: N571K

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000048997
Gene: ENSMUSG00000034109
AA Change: N571K

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: N599K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114006
Gene: ENSMUSG00000034109
AA Change: N599K

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: N571K

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000132910
Gene: ENSMUSG00000034109
AA Change: N571K

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: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	T	C	8: 46,966,797 (GRCm39)		probably benign	Het
Cd36	A	G	5: 17,992,700 (GRCm39)	I413T	probably damaging	Het
Fancm	A	G	12: 65,177,191 (GRCm39)		probably benign	Het
Herc2	T	C	7: 55,807,501 (GRCm39)	V2530A	probably benign	Het
Inpp5k	A	G	11: 75,522,030 (GRCm39)		probably benign	Het
Nt5c	A	T	11: 115,382,151 (GRCm39)	L76*	probably null	Het
Slc25a4	T	C	8: 46,662,346 (GRCm39)	D104G	probably damaging	Het
Smchd1	A	G	17: 71,701,794 (GRCm39)	V1066A	probably benign	Het
Snapc1	A	G	12: 74,011,429 (GRCm39)	T32A	probably benign	Het
Usp32	G	A	11: 84,885,252 (GRCm39)	A1265V	probably damaging	Het

Other mutations in Golim4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-12-06