Mutagenetix > Incidental Mutations

Incidental Mutation 'R8993:Golim4'

684526

Institutional Source

Beutler Lab

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: 0.074) question?

Stock #

R8993 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75875084-75956949 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 75878128 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 652 (A652E)

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: A624E

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000048997
Gene: ENSMUSG00000034109
AA Change: A624E

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: A652E

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000114006
Gene: ENSMUSG00000034109
AA Change: A652E

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

probably benign
Transcript: ENSMUST00000167078
AA Change: A624E

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000132910
Gene: ENSMUSG00000034109
AA Change: A624E

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (56/56)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	A	T	5: 113,703,781	C92*	probably null	Het
A830018L16Rik	G	T	1: 11,545,267	E155*	probably null	Het
Acaa1a	A	T	9: 119,349,352		probably null	Het
Adcy4	T	C	14: 55,771,378	E864G	probably null	Het
Adcy4	T	C	14: 55,778,699	D387G	probably damaging	Het
Ank1	C	T	8: 23,098,939	H574Y	probably damaging	Het
Arhgef16	C	T	4: 154,287,038	E233K	probably damaging	Het
Arhgef26	A	T	3: 62,448,104	Y699F	probably benign	Het
BB014433	C	T	8: 15,042,101	V251M	probably damaging	Het
Bcan	G	A	3: 87,994,222	A391V	probably benign	Het
Bod1l	A	C	5: 41,816,867	V2368G	probably benign	Het
Braf	A	G	6: 39,662,151	V222A	probably damaging	Het
Cd33	G	T	7: 43,533,447		probably benign	Het
Cdkl2	T	A	5: 92,022,151	K324N	probably damaging	Het
Celf6	A	T	9: 59,602,871	T199S	probably damaging	Het
Cmtm4	A	C	8: 104,355,166	D196E	probably benign	Het
Cntn1	G	A	15: 92,234,466	V148M	probably damaging	Het
Col1a2	C	A	6: 4,535,451	P921H	unknown	Het
Crmp1	T	C	5: 37,242,146	M1T	probably null	Het
Dnah7a	A	T	1: 53,504,103	Y2303N	probably damaging	Het
Dock10	G	T	1: 80,574,171	T650K	probably benign	Het
Fam24a	A	G	7: 131,336,540	D53G	probably benign	Het
Foxa2	A	T	2: 148,044,706	M69K	probably benign	Het
Gatad2a	T	A	8: 69,909,935	H601L	probably damaging	Het
Gimap4	A	C	6: 48,690,605	D98A	probably damaging	Het
Gm14295	G	T	2: 176,809,830	R371L	possibly damaging	Het
Gm5039	A	G	12: 88,321,400	F28L	probably benign	Het
Grid1	A	G	14: 35,026,942	I240V	probably benign	Het
Iqsec3	T	A	6: 121,413,313	T400S	unknown	Het
Itk	G	A	11: 46,334,908	R539C	probably damaging	Het
Kdelc1	G	T	1: 44,112,764	L322I	possibly damaging	Het
Kif27	T	A	13: 58,326,098	D695V	possibly damaging	Het
Krt79	T	C	15: 101,931,006		probably benign	Het
Lama2	C	A	10: 27,422,714	V129L	possibly damaging	Het
Lonrf1	C	A	8: 36,229,238	E552D	possibly damaging	Het
Mpp3	A	G	11: 102,000,665	I549T	probably benign	Het
Nat1	T	C	8: 67,491,742	Y260H	probably benign	Het
Nipal2	T	A	15: 34,648,837	K69*	probably null	Het
Nlrx1	G	T	9: 44,256,941		probably benign	Het
Pde1b	C	A	15: 103,521,425	A115E	probably benign	Het
Pde4dip	A	G	3: 97,766,494	Y369H	probably damaging	Het
Pnpla7	A	G	2: 25,053,419	Y1286C	possibly damaging	Het
Pramel5	T	C	4: 144,272,959	E186G	possibly damaging	Het
Qdpr	C	T	5: 45,450,044	G20D	probably damaging	Het
Rmnd1	T	G	10: 4,407,918	I364L	probably benign	Het
Slc5a4a	A	T	10: 76,186,535	E568V	probably benign	Het
Slc6a18	T	A	13: 73,668,271	I330F	probably benign	Het
Spesp1	T	C	9: 62,273,270	T119A	possibly damaging	Het
Sypl	G	A	12: 32,975,663	S242N	probably benign	Het
Tbx18	G	A	9: 87,730,717	T43M	probably benign	Het
Tm7sf2	T	A	19: 6,063,926	D263V	probably damaging	Het
Trbv21	T	C	6: 41,202,990	I80T	probably damaging	Het
Ttc3	T	A	16: 94,427,808	L747Q	possibly damaging	Het
Ttll11	T	C	2: 35,817,801	D498G	possibly damaging	Het
Ttn	T	C	2: 76,753,370	Y22431C	probably null	Het
Ubtfl1	T	A	9: 18,410,341	S388R		Het
Vmn2r118	A	T	17: 55,610,835	L226I	possibly damaging	Het
Wdr46	A	G	17: 33,949,182	H576R	probably benign	Het
Zfp426	A	G	9: 20,475,000	F62L	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
IGL01552:Golim4	APN	3	75956195	missense	probably damaging	1.00
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
R8845:Golim4	UTSW	3	75894965	missense	probably damaging	1.00
R8932:Golim4	UTSW	3	75898044	missense	probably benign	0.02
R9393:Golim4	UTSW	3	75878157	missense	probably benign	0.04
X0062:Golim4	UTSW	3	75906419	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAATTCAGTAGGCGGGATTTG -3'
(R):5'- ATGCCAAAGTTATCTGGCCCAG -3'

Sequencing Primer
(F):5'- CGGGATTTGTTTTAGAGCAGC -3'
(R):5'- ACTGGAAAATTGTTGCTGTAGC -3'

Posted On

2021-10-11