Mutagenetix > Incidental Mutation

Incidental Mutation 'R9435:Golph3l'

713219

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 #

R9435 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95496280-95526553 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95496369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 31 (V31A)

Ref Sequence

ENSEMBL: ENSMUSP00000134799 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029754] [ENSMUST00000060323] [ENSMUST00000090797] [ENSMUST00000098861] [ENSMUST00000107154] [ENSMUST00000171191] [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
AA Change: V31A

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000058654
Gene: ENSMUSG00000046519
AA Change: V31A

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 benign
Transcript: ENSMUST00000098861
AA Change: V31A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000096460
Gene: ENSMUSG00000046519
AA Change: V31A

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

probably benign
Transcript: ENSMUST00000171191

SMART Domains

Protein: ENSMUSP00000127180
Gene: ENSMUSG00000028109

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

Predicted Effect

probably benign
Transcript: ENSMUST00000177390
AA Change: V31A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000134799
Gene: ENSMUSG00000046519
AA Change: V31A

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

SMART Domains

Protein: ENSMUSP00000134885
Gene: ENSMUSG00000046519
AA Change: V30A

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

SMART Domains

Protein: ENSMUSP00000134804
Gene: ENSMUSG00000046519
AA Change: V28A

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

SMART Domains

Protein: ENSMUSP00000134998
Gene: ENSMUSG00000046519
AA Change: V23A

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

Coding Region Coverage

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

Validation Efficiency

100% (58/58)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	T	14: 32,382,562 (GRCm39)	D1134E	probably benign	Het
Abca5	C	T	11: 110,182,911 (GRCm39)		probably null	Het
Acp2	A	G	2: 91,036,409 (GRCm39)	T169A	probably damaging	Het
Agtpbp1	A	T	13: 59,622,429 (GRCm39)	N932K	probably benign	Het
Aldh5a1	G	A	13: 25,121,293 (GRCm39)	R87C	probably damaging	Het
Bpifa1	G	T	2: 153,985,843 (GRCm39)	A53S	unknown	Het
Cacna2d2	T	C	9: 107,396,384 (GRCm39)	I667T	probably benign	Het
Catsperg1	T	A	7: 28,889,751 (GRCm39)	T784S	probably benign	Het
Ccdc93	C	T	1: 121,369,584 (GRCm39)	Q109*	probably null	Het
Cd46	C	G	1: 194,767,720 (GRCm39)	D114H	probably damaging	Het
Cd82	A	T	2: 93,267,740 (GRCm39)	L19Q	probably damaging	Het
Celsr1	T	C	15: 85,806,535 (GRCm39)		probably benign	Het
Cnksr1	A	G	4: 133,961,885 (GRCm39)	I180T	possibly damaging	Het
Drg2	T	C	11: 60,358,966 (GRCm39)	V362A	probably benign	Het
Eef2	T	A	10: 81,014,994 (GRCm39)	M231K	probably benign	Het
Egr2	T	C	10: 67,375,628 (GRCm39)	Y75H	probably damaging	Het
Exoc6	A	C	19: 37,585,545 (GRCm39)	Q473H	probably benign	Het
Focad	T	A	4: 88,267,076 (GRCm39)	M1029K	unknown	Het
Fpr-rs4	T	A	17: 18,242,391 (GRCm39)	S133T	probably benign	Het
Gbf1	T	C	19: 46,268,432 (GRCm39)	V1322A	probably benign	Het
Gm572	T	C	4: 148,752,966 (GRCm39)	S282P	possibly damaging	Het
Gm7579	GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG	GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG	7: 141,765,782 (GRCm39)		probably benign	Het
Iars2	A	T	1: 185,034,913 (GRCm39)	V610D	probably damaging	Het
Igsf6	T	A	7: 120,666,472 (GRCm39)	I203F	probably damaging	Het
Ildr2	A	G	1: 166,136,691 (GRCm39)	Y510C	probably damaging	Het
Iqcf4	C	A	9: 106,445,652 (GRCm39)	R165L	possibly damaging	Het
Itgb1bp1	T	G	12: 21,320,943 (GRCm39)	I183L	possibly damaging	Het
Itgb4	A	C	11: 115,895,855 (GRCm39)	S1414R	probably benign	Het
Kbtbd7	G	T	14: 79,664,944 (GRCm39)	A259S	probably benign	Het
Kif14	T	A	1: 136,401,174 (GRCm39)	D508E	possibly damaging	Het
Klc2	A	T	19: 5,159,662 (GRCm39)	D484E	possibly damaging	Het
Lamc2	T	C	1: 153,013,072 (GRCm39)	S630G	probably benign	Het
Myl6b	G	A	10: 128,331,066 (GRCm39)	T125M	possibly damaging	Het
Nbea	T	A	3: 55,943,309 (GRCm39)	K655N	possibly damaging	Het
Nkx3-2	T	C	5: 41,919,493 (GRCm39)	D165G	probably benign	Het
Npy	A	T	6: 49,804,481 (GRCm39)	R67S	probably damaging	Het
Nrg3	A	T	14: 39,194,556 (GRCm39)	C68S	possibly damaging	Het
Nup160	C	T	2: 90,560,138 (GRCm39)	P1288S	probably damaging	Het
Or52e15	T	C	7: 104,645,946 (GRCm39)	H55R	probably benign	Het
Or8g33	A	G	9: 39,337,506 (GRCm39)	L287P	probably benign	Het
Pam	T	A	1: 97,822,144 (GRCm39)	I287L	probably benign	Het
Phf10	T	C	17: 15,165,387 (GRCm39)	R490G	probably benign	Het
Prim2	T	C	1: 33,523,876 (GRCm39)	Y345C	probably damaging	Het
Ptchd3	C	T	11: 121,721,646 (GRCm39)	A173V	probably benign	Het
Rab8b	G	A	9: 66,755,912 (GRCm39)	R167W	probably damaging	Het
S100a3	A	G	3: 90,509,502 (GRCm39)	E49G	probably benign	Het
Slc41a1	T	A	1: 131,766,896 (GRCm39)	V138E	probably damaging	Het
Slit1	C	A	19: 41,591,764 (GRCm39)		probably null	Het
Sntg1	T	A	1: 8,433,814 (GRCm39)	H479L	probably damaging	Het
Stam	T	A	2: 14,120,801 (GRCm39)	C72S	probably damaging	Het
Sval2	G	T	6: 41,840,795 (GRCm39)	A93S	probably benign	Het
Tas2r103	T	A	6: 133,013,686 (GRCm39)	K127*	probably null	Het
Trank1	C	T	9: 111,193,890 (GRCm39)	T638M	probably benign	Het
Utrn	T	A	10: 12,519,173 (GRCm39)	I2260F	probably damaging	Het
Zfp268	G	C	4: 145,349,045 (GRCm39)	E161Q		Het
Zfp280d	T	C	9: 72,226,599 (GRCm39)		probably null	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
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'- TGGCTAGAGTCAAACTTGGG -3'
(R):5'- GGAATTCATCATTTCCCTGTGGC -3'

Sequencing Primer
(F):5'- CTAGAGTCAAACTTGGGGGTTTC -3'
(R):5'- TACCCTACTTGAAAACATGATGAGC -3'

Posted On

2022-05-16