Mutagenetix > Incidental Mutation

Incidental Mutation 'R7681:Golim4'

628353

Institutional Source

Beutler Lab

Gene Symbol

Golim4

Ensembl Gene

ENSMUSG00000034109

Gene Name

golgi integral membrane protein 4

Synonyms

3110027H23Rik, P138, GPP130, Golph4

MMRRC Submission

045747-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R7681 (G1)

Quality Score

178.009

Status

Validated

Chromosome

Chromosomal Location

75783490-75864256 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 75794331 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132910 (fasta)

Gene Model

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

AlphaFold

Q8BXA1

Predicted Effect

probably null
Transcript: ENSMUST00000038563

SMART Domains

Protein: ENSMUSP00000048997
Gene: ENSMUSG00000034109

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 null
Transcript: ENSMUST00000117242

SMART Domains

Protein: ENSMUSP00000114006
Gene: ENSMUSG00000034109

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 null
Transcript: ENSMUST00000167078

SMART Domains

Protein: ENSMUSP00000132910
Gene: ENSMUSG00000034109

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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (58/60)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	C	T	5: 8,899,619 (GRCm39)	A963V	probably benign	Het
Agbl1	T	C	7: 76,094,649 (GRCm39)	V760A	unknown	Het
Akap13	T	C	7: 75,378,544 (GRCm39)	F347L	possibly damaging	Het
Anapc5	A	T	5: 122,940,202 (GRCm39)	F356L	probably benign	Het
Bmp6	A	G	13: 38,530,171 (GRCm39)	H88R	probably damaging	Het
Cblb	C	A	16: 52,025,001 (GRCm39)	S921R	probably damaging	Het
Ccs	T	A	19: 4,882,858 (GRCm39)		probably null	Het
Cyp20a1	A	G	1: 60,392,192 (GRCm39)	T83A	probably benign	Het
Defa25	T	A	8: 21,574,535 (GRCm39)	D26E	probably benign	Het
Dmwd	T	A	7: 18,815,007 (GRCm39)	N552K	probably benign	Het
Dnah17	C	T	11: 117,916,012 (GRCm39)	V4297M	probably damaging	Het
Fam135a	A	T	1: 24,106,996 (GRCm39)	S47R	probably benign	Het
Fbxo41	A	T	6: 85,455,461 (GRCm39)	C574*	probably null	Het
Fgb	T	C	3: 82,957,139 (GRCm39)		probably benign	Het
Fgfr1	C	T	8: 26,045,677 (GRCm39)	T82I	probably damaging	Het
Fhod3	T	A	18: 25,123,095 (GRCm39)	L262M	probably damaging	Het
Galnt16	A	T	12: 80,637,413 (GRCm39)	Q380L	probably damaging	Het
Glp2r	C	T	11: 67,600,505 (GRCm39)	G448D	probably benign	Het
Gnb4	C	A	3: 32,641,902 (GRCm39)	A242S	possibly damaging	Het
Grik2	G	T	10: 49,120,476 (GRCm39)	N604K	probably damaging	Het
Hnf1b	T	G	11: 83,779,972 (GRCm39)	I435S	probably damaging	Het
Hoxa11	C	T	6: 52,222,099 (GRCm39)	G201S	probably benign	Het
Hpse	A	G	5: 100,839,257 (GRCm39)	S364P	possibly damaging	Het
Kif16b	A	T	2: 142,598,046 (GRCm39)	N525K	probably damaging	Het
Kif1a	A	T	1: 92,982,666 (GRCm39)	C704S	probably benign	Het
Limk2	A	G	11: 3,303,354 (GRCm39)	S322P	probably damaging	Het
Lrp1b	A	T	2: 40,765,011 (GRCm39)	C2938*	probably null	Het
Malrd1	A	G	2: 16,222,913 (GRCm39)	R2071G	unknown	Het
Man2a2	T	A	7: 80,001,497 (GRCm39)	I1137F	possibly damaging	Het
Map2k6	C	T	11: 110,388,729 (GRCm39)	R224*	probably null	Het
Map3k4	G	A	17: 12,537,430 (GRCm39)	P29L	unknown	Het
Morn5	A	T	2: 35,947,156 (GRCm39)	N145Y	possibly damaging	Het
Muc20	T	C	16: 32,613,989 (GRCm39)	T463A	probably benign	Het
Myh10	C	T	11: 68,662,762 (GRCm39)	T642I	probably damaging	Het
Myh14	C	A	7: 44,273,572 (GRCm39)	R1362L	possibly damaging	Het
Nup88	C	A	11: 70,860,711 (GRCm39)	V23L	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or13p8	A	G	4: 118,583,761 (GRCm39)	I106V	probably benign	Het
Or4c116	A	C	2: 88,941,935 (GRCm39)	V307G	probably benign	Het
Or5p56	T	C	7: 107,590,355 (GRCm39)	M261T	possibly damaging	Het
Pabpn1	T	C	14: 55,135,499 (GRCm39)	Y299H	probably damaging	Het
Pak4	T	C	7: 28,259,655 (GRCm39)	E514G	probably damaging	Het
Ppp1r12b	A	C	1: 134,793,673 (GRCm39)	S564A	probably benign	Het
Psmc2	T	C	5: 22,008,272 (GRCm39)		probably null	Het
Psme4	A	G	11: 30,741,975 (GRCm39)	Y146C	possibly damaging	Het
Rb1cc1	A	G	1: 6,310,547 (GRCm39)	D315G	probably damaging	Het
Rilpl1	A	G	5: 124,668,976 (GRCm39)	V24A	possibly damaging	Het
Rtel1	A	T	2: 180,964,187 (GRCm39)	H62L	probably damaging	Het
Ruvbl1	G	A	6: 88,444,635 (GRCm39)		probably null	Het
Scn5a	A	G	9: 119,359,043 (GRCm39)	V668A	probably benign	Het
Slc22a6	G	A	19: 8,603,493 (GRCm39)	G519E	probably benign	Het
Slc43a2	T	A	11: 75,454,499 (GRCm39)	I348N	probably benign	Het
Slc6a16	T	A	7: 44,910,338 (GRCm39)	L347Q	probably damaging	Het
Smg6	T	A	11: 74,822,531 (GRCm39)	L658H	probably damaging	Het
Spata31e4	C	T	13: 50,856,290 (GRCm39)	P643S	possibly damaging	Het
Spidr	C	A	16: 15,713,488 (GRCm39)	G832W	probably damaging	Het
Ssrp1	G	A	2: 84,876,092 (GRCm39)	G616E	probably benign	Het
Sult1b1	G	A	5: 87,678,495 (GRCm39)	L110F	probably damaging	Het
Tfec	T	A	6: 16,834,235 (GRCm39)	H224L	probably benign	Het
Ttn	C	T	2: 76,539,295 (GRCm39)	E34564K	probably benign	Het
Washc2	A	G	6: 116,237,618 (GRCm39)	D1285G	probably damaging	Het
Zfp870	T	C	17: 33,101,664 (GRCm39)	E555G	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- GGTTTATATCCTCCACAGCTGC -3'
(R):5'- GGCCATGCTACAAAAGGACC -3'

Sequencing Primer
(F):5'- GCCCTCTGCAAAATGTTCATAAAAAG -3'
(R):5'- CTTACCACCGTTGGCTAT -3'

Posted On

2020-03-11