Mutagenetix > Incidental Mutation

Incidental Mutation 'R9779:Golph3l'

733888

Institutional Source

Beutler Lab

Gene Symbol

Golph3l

Ensembl Gene

ENSMUSG00000046519

Gene Name

golgi phosphoprotein 3-like

Synonyms

GPP34R, 2010204I15Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.178) question?

Stock #

R9779 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95496280-95526553 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 95499041 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 61 (T61I)

Ref Sequence

ENSEMBL: ENSMUSP00000134799 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029754] [ENSMUST00000060323] [ENSMUST00000090797] [ENSMUST00000098861] [ENSMUST00000107154] [ENSMUST00000177390]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000029754

SMART Domains

Protein: ENSMUSP00000029754
Gene: ENSMUSG00000028109

Domain	Start	End	E-Value	Type
Pfam:HORMA	24	221	4.7e-63	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000060323

SMART Domains

Protein: ENSMUSP00000058654
Gene: ENSMUSG00000046519

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

Predicted Effect

probably benign
Transcript: ENSMUST00000090797

SMART Domains

Protein: ENSMUSP00000088303
Gene: ENSMUSG00000028109

Domain	Start	End	E-Value	Type
Pfam:HORMA	23	221	5.4e-60	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000098861
AA Change: T61I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000096460
Gene: ENSMUSG00000046519
AA Change: T61I

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: ENSMUST00000107154

SMART Domains

Protein: ENSMUSP00000102772
Gene: ENSMUSG00000028109

Domain	Start	End	E-Value	Type
Pfam:HORMA	23	221	5.4e-60	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176541
AA Change: T56I

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176674
AA Change: T60I

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000134885
Gene: ENSMUSG00000046519
AA Change: T60I

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 damaging
Transcript: ENSMUST00000177390
AA Change: T61I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134799
Gene: ENSMUSG00000046519
AA Change: T61I

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

probably benign
Transcript: ENSMUST00000176755
AA Change: T58I

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000134804
Gene: ENSMUSG00000046519
AA Change: T58I

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

probably benign
Transcript: ENSMUST00000177389

Predicted Effect

probably benign
Transcript: ENSMUST00000177399

SMART Domains

Protein: ENSMUSP00000134998
Gene: ENSMUSG00000046519

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.6%

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 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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff4	T	G	11: 53,263,734 (GRCm39)	Y251*	probably null	Het
Amdhd1	G	T	10: 93,370,474 (GRCm39)	F121L	possibly damaging	Het
Apon	A	T	10: 128,091,065 (GRCm39)	T248S	probably benign	Het
Arhgap28	A	T	17: 68,152,764 (GRCm39)	I719K	probably benign	Het
Atf7ip2	A	T	16: 10,055,044 (GRCm39)	K270N	possibly damaging	Het
Atp2c1	A	G	9: 105,291,919 (GRCm39)	V881A	probably damaging	Het
Atp6v0a1	C	T	11: 100,924,938 (GRCm39)	T341M	probably damaging	Het
Cep192	T	C	18: 67,968,348 (GRCm39)	V944A	probably damaging	Het
Cplane1	C	A	15: 8,230,786 (GRCm39)	T1021K	possibly damaging	Het
Cyp26b1	T	C	6: 84,552,113 (GRCm39)	T342A	probably benign	Het
Cyp2c37	A	G	19: 39,998,323 (GRCm39)	E405G	probably benign	Het
Dab2	T	C	15: 6,460,525 (GRCm39)	S478P	probably benign	Het
Diablo	A	G	5: 123,662,132 (GRCm39)		probably null	Het
Dnajc8	A	G	4: 132,277,737 (GRCm39)	E174G	possibly damaging	Het
Eif4g1	T	C	16: 20,498,251 (GRCm39)	V336A	probably damaging	Het
Eif5a	C	T	11: 69,810,021 (GRCm39)	V41I	probably benign	Het
Epb41l5	C	T	1: 119,545,093 (GRCm39)		probably null	Het
F12	A	C	13: 55,566,012 (GRCm39)	V565G	probably damaging	Het
Fras1	C	A	5: 96,717,353 (GRCm39)	T389N	probably damaging	Het
Galnt13	T	A	2: 54,623,062 (GRCm39)	D69E	probably benign	Het
Grm3	A	T	5: 9,561,656 (GRCm39)	N731K	possibly damaging	Het
Hmgxb4	C	T	8: 75,750,629 (GRCm39)	S484F	possibly damaging	Het
Hsd17b11	C	A	5: 104,157,771 (GRCm39)	V114F	probably damaging	Het
Hspa1a	C	T	17: 35,190,778 (GRCm39)	V42M	probably damaging	Het
Igf1r	A	G	7: 67,654,065 (GRCm39)	Y201C	probably damaging	Het
Inf2	C	A	12: 112,574,786 (GRCm39)	P786T	unknown	Het
Ints12	T	G	3: 132,812,752 (GRCm39)	V236G	probably benign	Het
Itga2b	T	C	11: 102,348,147 (GRCm39)	N818S	probably damaging	Het
Itgb4	T	C	11: 115,882,485 (GRCm39)	L853P	probably damaging	Het
Kap	A	G	6: 133,829,006 (GRCm39)	V42A	probably benign	Het
Kcnk1	T	C	8: 126,751,807 (GRCm39)	S138P	probably damaging	Het
Klra2	G	A	6: 131,198,801 (GRCm39)	P247S	unknown	Het
Lrba	T	C	3: 86,233,078 (GRCm39)	I813T	probably damaging	Het
Lrrc27	A	T	7: 138,816,886 (GRCm39)	Q428L	possibly damaging	Het
Macf1	G	A	4: 123,348,789 (GRCm39)	T4046I	probably benign	Het
Mast3	T	C	8: 71,238,127 (GRCm39)	T521A	probably damaging	Het
Meox1	T	C	11: 101,769,470 (GRCm39)	E242G	probably benign	Het
Neo1	A	T	9: 58,886,009 (GRCm39)	L316*	probably null	Het
Notch3	A	G	17: 32,372,757 (GRCm39)	Y605H	probably damaging	Het
Nsf	T	C	11: 103,719,352 (GRCm39)	D650G	probably damaging	Het
Obscn	C	A	11: 59,026,441 (GRCm39)	R254L	probably benign	Het
Odam	G	A	5: 88,037,327 (GRCm39)		probably null	Het
Or5v1b	A	T	17: 37,841,048 (GRCm39)	Y60F	probably damaging	Het
Or7g12	A	T	9: 18,900,135 (GRCm39)	M284L	probably benign	Het
Pcdhb9	A	T	18: 37,535,253 (GRCm39)	M416L	probably benign	Het
Plcz1	A	T	6: 139,947,882 (GRCm39)	I500N	possibly damaging	Het
Prkn	T	C	17: 11,854,318 (GRCm39)	S285P	possibly damaging	Het
Rab14	G	A	2: 35,080,047 (GRCm39)	T50I		Het
Rag1	A	T	2: 101,474,153 (GRCm39)	Y330N	probably damaging	Het
Rapgef3	T	C	15: 97,643,479 (GRCm39)	I911V	probably damaging	Het
Rasgrf1	G	T	9: 89,873,551 (GRCm39)	C620F	probably damaging	Het
Rhbdl3	A	G	11: 80,214,317 (GRCm39)	T143A	probably damaging	Het
Robo2	A	C	16: 73,767,965 (GRCm39)	M609R	probably damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Slc49a4	T	C	16: 35,543,186 (GRCm39)	D316G	probably benign	Het
Sod3	G	A	5: 52,525,435 (GRCm39)	V45I	probably benign	Het
Ticrr	A	G	7: 79,328,802 (GRCm39)	D647G	probably benign	Het
Tmem119	G	A	5: 113,933,204 (GRCm39)	S199L	possibly damaging	Het
Tmem63c	T	A	12: 87,104,419 (GRCm39)	I80N	probably damaging	Het
Trp53bp1	A	T	2: 121,066,469 (GRCm39)	D752E	probably damaging	Het
Ttn	A	G	2: 76,550,570 (GRCm39)	S31571P	probably damaging	Het
Ttn	A	T	2: 76,667,146 (GRCm39)	S11487T	unknown	Het
Vmn1r123	T	C	7: 20,896,111 (GRCm39)	M1T	probably null	Het
Vmn1r85	A	T	7: 12,818,308 (GRCm39)	S279T	probably benign	Het
Vps13d	A	G	4: 144,798,972 (GRCm39)	V3635A		Het
Wdr95	A	G	5: 149,505,293 (GRCm39)	D358G	probably benign	Het
Zfp1005	A	G	2: 150,108,064 (GRCm39)	D8G	possibly damaging	Het
Zfp764l1	A	T	7: 126,991,469 (GRCm39)	C173S	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
R4933:Golph3l	UTSW	3	95,524,734 (GRCm39)	missense	probably benign	0.00
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

Predicted Primers

PCR Primer
(F):5'- ACTTCTGGGTTGTAGGCAATGC -3'
(R):5'- TTATCTTTTAGCCCCAGGAGC -3'

Sequencing Primer
(F):5'- GCAATGCCCAAGAAATAAGCATG -3'
(R):5'- TATCTTTTAGCCCCAGGAGCAATAC -3'

Posted On

2022-11-14