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

GPP34R, 2010204I15Rik

MMRRC Submission

042533-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.186) question?

Stock #

R4933 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95496280-95526553 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 95524734 bp (GRCm39)

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

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

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

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: 41,276,226 (GRCm39)	E643G	probably damaging	Het
Abca2	T	C	2: 25,334,839 (GRCm39)	V1937A	probably benign	Het
Acot10	A	T	15: 20,666,416 (GRCm39)	N108K	possibly damaging	Het
Agtpbp1	A	T	13: 59,648,386 (GRCm39)	M478K	probably benign	Het
Akirin1	G	A	4: 123,630,651 (GRCm39)	S191F	probably damaging	Het
Aoc1l3	T	C	6: 48,964,426 (GRCm39)	S145P	probably damaging	Het
Aurkb	T	C	11: 68,938,970 (GRCm39)		probably benign	Het
Cabyr	T	C	18: 12,877,549 (GRCm39)		probably benign	Het
Ccp110	A	G	7: 118,324,542 (GRCm39)	E688G	probably damaging	Het
Champ1	T	A	8: 13,929,137 (GRCm39)	S432T	probably benign	Het
Crybg1	T	A	10: 43,875,209 (GRCm39)	N633I	probably damaging	Het
Dagla	A	T	19: 10,247,079 (GRCm39)		probably null	Het
Dkkl1	A	T	7: 44,860,949 (GRCm39)	L10Q	probably null	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Fndc7	G	T	3: 108,783,986 (GRCm39)	Q208K	probably benign	Het
Gins4	A	T	8: 23,724,796 (GRCm39)	C53S	probably damaging	Het
Gja8	T	A	3: 96,826,351 (GRCm39)		probably benign	Het
Haus6	A	C	4: 86,503,524 (GRCm39)		probably benign	Het
Hdac5	A	G	11: 102,091,389 (GRCm39)		probably benign	Het
Ide	A	G	19: 37,255,155 (GRCm39)	Y883H	unknown	Het
Igf2r	A	G	17: 12,910,764 (GRCm39)		probably null	Het
Kdm3b	T	C	18: 34,943,446 (GRCm39)	Y723H	probably damaging	Het
Kif21b	G	A	1: 136,079,063 (GRCm39)		probably null	Het
Lancl1	A	T	1: 67,060,193 (GRCm39)	N77K	probably benign	Het
Lyst	T	A	13: 13,812,349 (GRCm39)	N920K	probably damaging	Het
Lyst	G	A	13: 13,933,963 (GRCm39)	V3554I	probably benign	Het
Map1a	G	A	2: 121,136,386 (GRCm39)	A2163T	probably damaging	Het
Mapk7	G	T	11: 61,384,734 (GRCm39)		probably benign	Het
Myo10	C	A	15: 25,781,204 (GRCm39)	Q154K	probably damaging	Het
Or2a7	C	T	6: 43,151,255 (GRCm39)	L112F	probably benign	Het
Or2h15	A	G	17: 38,441,441 (GRCm39)	I214T	probably damaging	Het
Pcdhgb2	G	A	18: 37,825,267 (GRCm39)	V753M	probably benign	Het
Pnn	T	A	12: 59,117,013 (GRCm39)	L195Q	probably damaging	Het
Pot1a	A	G	6: 25,771,540 (GRCm39)	V227A	possibly damaging	Het
Ppp1r21	T	A	17: 88,855,049 (GRCm39)	D109E	probably benign	Het
Prr15l	G	A	11: 96,825,588 (GRCm39)	G73S	probably damaging	Het
Rnf148	A	G	6: 23,654,339 (GRCm39)	F219S	probably benign	Het
Rnpep	C	A	1: 135,194,764 (GRCm39)		probably benign	Het
Ryr1	T	C	7: 28,803,723 (GRCm39)	T643A	probably damaging	Het
Ryr2	A	T	13: 11,960,831 (GRCm39)	C36S	probably damaging	Het
Shc3	G	T	13: 51,596,805 (GRCm39)	T406N	probably benign	Het
Slit3	G	T	11: 35,579,420 (GRCm39)	G1199V	probably damaging	Het
Spata6l	G	T	19: 28,919,175 (GRCm39)	H195N	possibly damaging	Het
Sptbn5	G	A	2: 119,880,601 (GRCm39)		noncoding transcript	Het
St8sia6	T	C	2: 13,670,253 (GRCm39)	N236D	probably damaging	Het
Stpg1	A	T	4: 135,233,727 (GRCm39)	Q3L	probably benign	Het
Sult3a1	T	A	10: 33,742,550 (GRCm39)	I59N	probably damaging	Het
Vmn1r208	T	G	13: 22,956,958 (GRCm39)	I180L	probably benign	Het
Vmn2r51	A	T	7: 9,832,247 (GRCm39)	N446K	probably damaging	Het
Vmn2r63	A	T	7: 42,553,402 (GRCm39)	I618N	probably damaging	Het
Wrn	T	C	8: 33,812,371 (GRCm39)	N182S	probably benign	Het
Zfp296	G	T	7: 19,313,637 (GRCm39)	C164F	possibly damaging	Het
Zfp764l1	A	G	7: 126,992,521 (GRCm39)	Y30H	probably damaging	Het
Zmynd8	A	G	2: 165,676,871 (GRCm39)	V249A	possibly damaging	Het
Zswim2	A	G	2: 83,755,571 (GRCm39)	L110P	probably damaging	Het

Other mutations in Golph3l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00583:Golph3l	APN	3	95,496,414 (GRCm39)	missense	possibly damaging	0.96
IGL01299:Golph3l	APN	3	95,524,588 (GRCm39)	missense	possibly damaging	0.71
R0749:Golph3l	UTSW	3	95,515,260 (GRCm39)	missense	probably damaging	1.00
R2021:Golph3l	UTSW	3	95,524,668 (GRCm39)	missense	probably benign	0.01
R2161:Golph3l	UTSW	3	95,524,436 (GRCm39)	missense	probably damaging	1.00
R2359:Golph3l	UTSW	3	95,499,275 (GRCm39)	splice site	probably null
R3015:Golph3l	UTSW	3	95,499,024 (GRCm39)	intron	probably benign
R4828:Golph3l	UTSW	3	95,499,059 (GRCm39)	missense	possibly damaging	0.63
R5088:Golph3l	UTSW	3	95,524,501 (GRCm39)	missense	possibly damaging	0.55
R6132:Golph3l	UTSW	3	95,499,145 (GRCm39)	missense	probably benign	0.30
R6339:Golph3l	UTSW	3	95,524,750 (GRCm39)	missense	probably damaging	1.00
R7595:Golph3l	UTSW	3	95,517,094 (GRCm39)	missense	probably benign	0.09
R8164:Golph3l	UTSW	3	95,524,517 (GRCm39)	missense	probably benign	0.06
R9435:Golph3l	UTSW	3	95,496,369 (GRCm39)	missense	probably benign	0.00
R9763:Golph3l	UTSW	3	95,517,085 (GRCm39)	missense	possibly damaging	0.76
R9779:Golph3l	UTSW	3	95,499,041 (GRCm39)	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