Mutagenetix > Incidental Mutation

Incidental Mutation 'R4933:Golph3l'

380702

Institutional Source

Beutler Lab

Gene Symbol

Golph3l

Ensembl Gene

ENSMUSG00000046519

Gene Name

golgi phosphoprotein 3-like

Synonyms

2010204I15Rik, GPP34R

MMRRC Submission

042533-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R4933 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95588934-95619247 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 95617423 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 328 (N328K)

Ref Sequence

ENSEMBL: ENSMUSP00000134799 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060323] [ENSMUST00000098861] [ENSMUST00000177390]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000060323
AA Change: N265K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000058654
Gene: ENSMUSG00000046519
AA Change: N265K

Domain	Start	End	E-Value	Type
Pfam:GPP34	50	275	8.5e-54	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000074353

SMART Domains

Protein: ENSMUSP00000136770
Gene: ENSMUSG00000060438

Domain	Start	End	E-Value	Type
Pfam:S10_plectin	3	98	4.8e-50	PFAM
low complexity region	150	165	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000098861

SMART Domains

Protein: ENSMUSP00000096460
Gene: ENSMUSG00000046519

Domain	Start	End	E-Value	Type
low complexity region	58	69	N/A	INTRINSIC
low complexity region	72	83	N/A	INTRINSIC
Pfam:GPP34	106	277	5.1e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176541

Predicted Effect

unknown
Transcript: ENSMUST00000176674
AA Change: N283K

SMART Domains

Protein: ENSMUSP00000134885
Gene: ENSMUSG00000046519
AA Change: N283K

Domain	Start	End	E-Value	Type
low complexity region	58	69	N/A	INTRINSIC
low complexity region	72	83	N/A	INTRINSIC
Pfam:GPP34	104	288	2.4e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176755

SMART Domains

Protein: ENSMUSP00000134804
Gene: ENSMUSG00000046519

Domain	Start	End	E-Value	Type
low complexity region	56	67	N/A	INTRINSIC
low complexity region	70	81	N/A	INTRINSIC
Pfam:GPP34	104	275	7.5e-51	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000177389
AA Change: N264K

Predicted Effect

probably benign
Transcript: ENSMUST00000177390
AA Change: N328K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000134799
Gene: ENSMUSG00000046519
AA Change: N328K

Domain	Start	End	E-Value	Type
low complexity region	58	69	N/A	INTRINSIC
low complexity region	72	83	N/A	INTRINSIC
Pfam:GPP34	106	332	8.3e-61	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000177399
AA Change: N165K

SMART Domains

Protein: ENSMUSP00000134998
Gene: ENSMUSG00000046519
AA Change: N165K

Domain	Start	End	E-Value	Type
Pfam:GPP34	23	170	5.4e-27	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.3%

Validation Efficiency

97% (73/75)

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 localized at the Golgi stack and may have a regulatory role in Golgi trafficking. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	A	G	7: 41,626,802	E643G	probably damaging	Het
4430402I18Rik	G	T	19: 28,941,775	H195N	possibly damaging	Het
Abca2	T	C	2: 25,444,827	V1937A	probably benign	Het
Acot10	A	T	15: 20,666,330	N108K	possibly damaging	Het
Agtpbp1	A	T	13: 59,500,572	M478K	probably benign	Het
Akirin1	G	A	4: 123,736,858	S191F	probably damaging	Het
Aurkb	T	C	11: 69,048,144		probably benign	Het
Cabyr	T	C	18: 12,744,492		probably benign	Het
Ccp110	A	G	7: 118,725,319	E688G	probably damaging	Het
Champ1	T	A	8: 13,879,137	S432T	probably benign	Het
Crybg1	T	A	10: 43,999,213	N633I	probably damaging	Het
Dagla	A	T	19: 10,269,715		probably null	Het
Dkkl1	A	T	7: 45,211,525	L10Q	probably null	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
E430018J23Rik	A	G	7: 127,393,349	Y30H	probably damaging	Het
Fndc7	G	T	3: 108,876,670	Q208K	probably benign	Het
Gins4	A	T	8: 23,234,780	C53S	probably damaging	Het
Gja8	T	A	3: 96,919,035		probably benign	Het
Haus6	A	C	4: 86,585,287		probably benign	Het
Hdac5	A	G	11: 102,200,563		probably benign	Het
Ide	A	G	19: 37,277,756	Y883H	unknown	Het
Igf2r	A	G	17: 12,691,877		probably null	Het
Kdm3b	T	C	18: 34,810,393	Y723H	probably damaging	Het
Kif21b	G	A	1: 136,151,325		probably null	Het
Lancl1	A	T	1: 67,021,034	N77K	probably benign	Het
Lyst	T	A	13: 13,637,764	N920K	probably damaging	Het
Lyst	G	A	13: 13,759,378	V3554I	probably benign	Het
Map1a	G	A	2: 121,305,905	A2163T	probably damaging	Het
Mapk7	G	T	11: 61,493,908		probably benign	Het
Myo10	C	A	15: 25,781,118	Q154K	probably damaging	Het
Olfr13	C	T	6: 43,174,321	L112F	probably benign	Het
Olfr132	A	G	17: 38,130,550	I214T	probably damaging	Het
Pcdhgb2	G	A	18: 37,692,214	V753M	probably benign	Het
Pnn	T	A	12: 59,070,227	L195Q	probably damaging	Het
Pot1a	A	G	6: 25,771,541	V227A	possibly damaging	Het
Ppp1r21	T	A	17: 88,547,621	D109E	probably benign	Het
Prr15l	G	A	11: 96,934,762	G73S	probably damaging	Het
Rnf148	A	G	6: 23,654,340	F219S	probably benign	Het
Rnpep	C	A	1: 135,267,026		probably benign	Het
Ryr1	T	C	7: 29,104,298	T643A	probably damaging	Het
Ryr2	A	T	13: 11,945,945	C36S	probably damaging	Het
Shc3	G	T	13: 51,442,769	T406N	probably benign	Het
Slit3	G	T	11: 35,688,593	G1199V	probably damaging	Het
Sptbn5	G	A	2: 120,050,120		noncoding transcript	Het
St8sia6	T	C	2: 13,665,442	N236D	probably damaging	Het
Stpg1	A	T	4: 135,506,416	Q3L	probably benign	Het
Sult3a1	T	A	10: 33,866,554	I59N	probably damaging	Het
Svs1	T	C	6: 48,987,492	S145P	probably damaging	Het
Vmn1r208	T	G	13: 22,772,788	I180L	probably benign	Het
Vmn2r51	A	T	7: 10,098,320	N446K	probably damaging	Het
Vmn2r63	A	T	7: 42,903,978	I618N	probably damaging	Het
Wrn	T	C	8: 33,322,343	N182S	probably benign	Het
Zfp296	G	T	7: 19,579,712	C164F	possibly damaging	Het
Zmynd8	A	G	2: 165,834,951	V249A	possibly damaging	Het
Zswim2	A	G	2: 83,925,227	L110P	probably damaging	Het

Other mutations in Golph3l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00583:Golph3l	APN	3	95589103	missense	possibly damaging	0.96
IGL01299:Golph3l	APN	3	95617277	missense	possibly damaging	0.71
R0749:Golph3l	UTSW	3	95607949	missense	probably damaging	1.00
R2021:Golph3l	UTSW	3	95617357	missense	probably benign	0.01
R2161:Golph3l	UTSW	3	95617125	missense	probably damaging	1.00
R2359:Golph3l	UTSW	3	95591964	splice site	probably null
R3015:Golph3l	UTSW	3	95591713	intron	probably benign
R4828:Golph3l	UTSW	3	95591748	missense	possibly damaging	0.63
R5088:Golph3l	UTSW	3	95617190	missense	possibly damaging	0.55
R6132:Golph3l	UTSW	3	95591834	missense	probably benign	0.30
R6339:Golph3l	UTSW	3	95617439	missense	probably damaging	1.00
R7595:Golph3l	UTSW	3	95609783	missense	probably benign	0.09
R8164:Golph3l	UTSW	3	95617206	missense	probably benign	0.06
R9435:Golph3l	UTSW	3	95589058	missense	probably benign	0.00
R9763:Golph3l	UTSW	3	95609774	missense	possibly damaging	0.76
R9779:Golph3l	UTSW	3	95591730	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AAATGACCCTCAGCGCATG -3'
(R):5'- GTCTGCTTAGAAGGTCATGGC -3'

Sequencing Primer
(F):5'- CATGGACAGGCGAACACTG -3'
(R):5'- CAGAGAGGCCATGAAGTTTTCCTC -3'

Posted On

2016-04-15