Mutagenetix > Incidental Mutation

Incidental Mutation 'R7303:Golim4'

567083

Institutional Source

Beutler Lab

Gene Symbol

Golim4

Ensembl Gene

ENSMUSG00000034109

Gene Name

golgi integral membrane protein 4

Synonyms

3110027H23Rik, P138, GPP130, Golph4

MMRRC Submission

045364-MU

Accession Numbers

Essential gene?

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

Stock #

R7303 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75783490-75864256 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 75785360 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 677 (S677L)

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: S649L

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000048997
Gene: ENSMUSG00000034109
AA Change: S649L

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: S677L

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

SMART Domains

Protein: ENSMUSP00000114006
Gene: ENSMUSG00000034109
AA Change: S677L

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

possibly damaging
Transcript: ENSMUST00000167078
AA Change: S649L

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000132910
Gene: ENSMUSG00000034109
AA Change: S649L

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: 99.1%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	G	17: 24,617,495 (GRCm39)	L1064R	possibly damaging	Het
Abca7	A	T	10: 79,850,822 (GRCm39)	D2051V	probably benign	Het
Abcb5	T	A	12: 118,875,295 (GRCm39)	I626F	probably damaging	Het
Abcg5	A	G	17: 84,977,774 (GRCm39)	S333P	probably damaging	Het
Abl2	T	C	1: 156,468,820 (GRCm39)	S695P	probably benign	Het
Aen	C	T	7: 78,552,204 (GRCm39)	P55S	possibly damaging	Het
Afg3l1	G	T	8: 124,228,008 (GRCm39)	A598S	probably damaging	Het
Aldh16a1	A	T	7: 44,797,328 (GRCm39)	L160Q	probably damaging	Het
Ang	A	T	14: 51,338,973 (GRCm39)	H38L	probably benign	Het
Ankar	A	T	1: 72,698,192 (GRCm39)	I954N	probably benign	Het
Aox1	A	T	1: 58,373,924 (GRCm39)	K862*	probably null	Het
Brme1	G	C	8: 84,887,862 (GRCm39)	G71A	probably benign	Het
Cad	T	C	5: 31,217,557 (GRCm39)		probably null	Het
Cc2d2b	A	T	19: 40,797,438 (GRCm39)	Y740F	unknown	Het
Ccdc182	T	C	11: 88,185,042 (GRCm39)	Y41H	probably benign	Het
Chd9	A	G	8: 91,778,532 (GRCm39)	R2848G	unknown	Het
Chrna6	A	T	8: 27,897,019 (GRCm39)	L286*	probably null	Het
Cimap1d	G	A	10: 79,478,525 (GRCm39)	P80S	probably benign	Het
Cracr2b	A	G	7: 141,043,115 (GRCm39)		probably benign	Het
Fam184b	C	T	5: 45,699,568 (GRCm39)		probably null	Het
Flnc	T	C	6: 29,460,849 (GRCm39)	S2647P	probably benign	Het
Ftsj3	T	C	11: 106,145,506 (GRCm39)	D76G	probably damaging	Het
Fxyd1	T	A	7: 30,753,743 (GRCm39)	M17L	probably benign	Het
Gpr149	A	G	3: 62,502,491 (GRCm39)	V455A	possibly damaging	Het
H2-Q1	C	A	17: 35,540,312 (GRCm39)	S132R	probably benign	Het
H2-Q7	A	G	17: 35,659,037 (GRCm39)	I163V	probably benign	Het
Herc1	A	T	9: 66,358,098 (GRCm39)	D2393V	possibly damaging	Het
Hmgb2	A	G	8: 57,965,762 (GRCm39)	K44E	possibly damaging	Het
Itgad	A	G	7: 127,789,351 (GRCm39)	D605G	probably benign	Het
Kbtbd12	G	T	6: 88,591,094 (GRCm39)	F16L	unknown	Het
Klhl23	T	C	2: 69,655,045 (GRCm39)	I305T	probably benign	Het
Lrguk	A	T	6: 34,006,411 (GRCm39)	N7I	probably benign	Het
Lrp5	A	G	19: 3,641,774 (GRCm39)	L1396P	probably damaging	Het
Mapkapk5	T	C	5: 121,678,637 (GRCm39)	E13G	probably benign	Het
Mark3	T	C	12: 111,621,970 (GRCm39)	V704A	probably damaging	Het
Mast2	A	G	4: 116,165,508 (GRCm39)	S1303P	possibly damaging	Het
Mcm2	T	C	6: 88,864,928 (GRCm39)	D516G	probably damaging	Het
Mon2	A	T	10: 122,874,364 (GRCm39)		probably null	Het
Mrc2	T	A	11: 105,216,629 (GRCm39)	N139K	probably damaging	Het
Myh14	C	T	7: 44,261,125 (GRCm39)	E1789K	probably damaging	Het
Myh7b	T	A	2: 155,460,660 (GRCm39)	L271Q	probably damaging	Het
Oog2	A	T	4: 143,921,912 (GRCm39)	H274L	probably benign	Het
Oosp1	A	C	19: 11,645,774 (GRCm39)	S121R	probably benign	Het
Or13a28	T	C	7: 140,218,267 (GRCm39)	S218P	probably damaging	Het
Or8k3b	A	G	2: 86,521,166 (GRCm39)	V51A	probably benign	Het
Pepd	T	C	7: 34,721,197 (GRCm39)		probably null	Het
Pik3c2a	A	C	7: 116,005,178 (GRCm39)	S363R	probably benign	Het
Polr2b	T	C	5: 77,468,868 (GRCm39)	Y215H	probably benign	Het
Ppcdc	A	T	9: 57,321,958 (GRCm39)	V194E	probably benign	Het
Rabgap1l	A	C	1: 160,509,667 (GRCm39)	I470S	probably benign	Het
Scgb1b3	G	A	7: 31,075,383 (GRCm39)	A78T	probably benign	Het
Slc9a5	T	A	8: 106,083,345 (GRCm39)	L368Q	probably damaging	Het
Spef2	T	A	15: 9,647,576 (GRCm39)	I944F	possibly damaging	Het
Syne1	T	A	10: 5,206,805 (GRCm39)	H3461L	probably benign	Het
Tas2r134	A	G	2: 51,518,145 (GRCm39)	Y208C	probably benign	Het
Tasor	A	G	14: 27,193,809 (GRCm39)	E1003G	probably damaging	Het
Tm9sf3	G	A	19: 41,227,198 (GRCm39)	S291F	probably damaging	Het
Tra2a	G	A	6: 49,227,921 (GRCm39)	T69I	unknown	Het
Ube2q1	T	A	3: 89,683,898 (GRCm39)	L171Q	possibly damaging	Het
Ufd1	A	G	16: 18,636,715 (GRCm39)	T78A	probably damaging	Het
Vmn1r13	T	C	6: 57,187,587 (GRCm39)	S249P	probably damaging	Het
Wdr91	G	A	6: 34,861,258 (GRCm39)	S648L	probably benign	Het
Zfp51	T	A	17: 21,684,058 (GRCm39)	N224K	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
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

Predicted Primers

PCR Primer
(F):5'- CCTGAAGGCAAGTCTTACTGC -3'
(R):5'- TTATCAATCACGAGCTCTACATCC -3'

Sequencing Primer
(F):5'- GAAGGCAAGTCTTACTGCTTTTC -3'
(R):5'- ACGAGCTCTACATCCTCTCTTAG -3'

Posted On

2019-06-26