Mutagenetix > Incidental Mutation

Incidental Mutation 'R4746:Gnptg'

356757

Institutional Source

Beutler Lab

Gene Symbol

Gnptg

Ensembl Gene

ENSMUSG00000035521

Gene Name

N-acetylglucosamine-1-phosphotransferase, gamma subunit

Synonyms

MMRRC Submission

041968-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R4746 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

25452305-25459098 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

ATTGTTGATGATTT to AT at 25454571 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125294 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015271] [ENSMUST00000038973] [ENSMUST00000039734] [ENSMUST00000063574] [ENSMUST00000115154] [ENSMUST00000160896] [ENSMUST00000161679]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000015271

SMART Domains

Protein: ENSMUSP00000015271
Gene: ENSMUSG00000015127

Domain	Start	End	E-Value	Type
coiled coil region	73	154	N/A	INTRINSIC
RING	198	232	4.13e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000038973

SMART Domains

Protein: ENSMUSP00000042073
Gene: ENSMUSG00000035521

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:PRKCSH	69	152	1.4e-10	PFAM
DMAP_binding	176	278	2.55e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000039734

SMART Domains

Protein: ENSMUSP00000039670
Gene: ENSMUSG00000015127

Domain	Start	End	E-Value	Type
low complexity region	61	69	N/A	INTRINSIC
ZnF_C3H1	76	103	1.33e-1	SMART
Blast:ZnF_C3H1	115	144	7e-13	BLAST
ZnF_C3H1	207	232	2.49e1	SMART
ZnF_C3H1	243	276	9.28e-1	SMART
ZnF_C3H1	285	312	8.47e-4	SMART
low complexity region	371	412	N/A	INTRINSIC
low complexity region	463	495	N/A	INTRINSIC
low complexity region	499	505	N/A	INTRINSIC
low complexity region	511	527	N/A	INTRINSIC
coiled coil region	561	642	N/A	INTRINSIC
RING	686	720	4.13e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000063574

SMART Domains

Protein: ENSMUSP00000068511
Gene: ENSMUSG00000015126

Domain	Start	End	E-Value	Type
Pfam:RLI	58	92	8.2e-17	PFAM
Pfam:DUF367	96	222	1.3e-56	PFAM
low complexity region	261	282	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115154

SMART Domains

Protein: ENSMUSP00000110807
Gene: ENSMUSG00000035521

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:PRKCSH	69	151	3.9e-11	PFAM
DMAP_binding	183	285	2.55e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160896

SMART Domains

Protein: ENSMUSP00000124276
Gene: ENSMUSG00000015127

Domain	Start	End	E-Value	Type
ZnF_C3H1	21	46	2.49e1	SMART
ZnF_C3H1	57	90	9.28e-1	SMART
ZnF_C3H1	99	126	8.47e-4	SMART
low complexity region	185	226	N/A	INTRINSIC
low complexity region	277	309	N/A	INTRINSIC
low complexity region	313	319	N/A	INTRINSIC
low complexity region	325	341	N/A	INTRINSIC
coiled coil region	375	456	N/A	INTRINSIC
RING	500	534	4.13e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161679

SMART Domains

Protein: ENSMUSP00000125294
Gene: ENSMUSG00000015127

Domain	Start	End	E-Value	Type
low complexity region	3	9	N/A	INTRINSIC
low complexity region	15	31	N/A	INTRINSIC
coiled coil region	65	146	N/A	INTRINSIC
RING	190	224	4.13e-2	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. This hexameric complex, composed of alpha, beta and gamma subunits, catalyzes the first step in synthesis of a mannose 6-phosphate lysosomal recognition marker. This enzyme complex is necessary for targeting of lysosomal hydrolases to the lysosome. Mutations in the gene encoding the gamma subunit have been associated with mucolipidosis IIIC, also known as mucolipidosis III gamma.[provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for a knock-out allele show a partial loss of lysosomal enzyme phosphorylation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	G	A	2: 152,282,685 (GRCm39)	S180N	probably benign	Het
Atp5f1a	G	T	18: 77,866,442 (GRCm39)	G165V	probably benign	Het
Cbfa2t2	A	C	2: 154,365,845 (GRCm39)	M352L	possibly damaging	Het
Ccser2	A	T	14: 36,631,082 (GRCm39)	D98E	probably damaging	Het
Cfap20	A	G	8: 96,148,684 (GRCm39)		probably null	Het
Chuk	A	T	19: 44,077,210 (GRCm39)	C379S	possibly damaging	Het
Cic	G	A	7: 24,987,905 (GRCm39)	G1531E	probably damaging	Het
Ckap4	A	G	10: 84,369,384 (GRCm39)	V116A	possibly damaging	Het
Cxcl13	A	G	5: 96,107,756 (GRCm39)	K71E	probably damaging	Het
Dmxl2	A	T	9: 54,359,080 (GRCm39)	I210N	probably benign	Het
Donson	A	C	16: 91,479,125 (GRCm39)	V397G	probably damaging	Het
Dpy19l1	C	A	9: 24,361,966 (GRCm39)	V332L	probably benign	Het
Dsp	T	C	13: 38,379,080 (GRCm39)	S1343P	possibly damaging	Het
Egflam	A	G	15: 7,254,120 (GRCm39)		probably null	Het
Eif2b4	A	G	5: 31,344,997 (GRCm39)	I550T	probably damaging	Het
Fbxo47	A	T	11: 97,770,254 (GRCm39)	V46D	probably benign	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Folr1	T	A	7: 101,513,184 (GRCm39)	D37V	probably damaging	Het
Gm17333	AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	16: 77,649,766 (GRCm39)		noncoding transcript	Het
Gnb1	C	A	4: 155,627,531 (GRCm39)	A104E	probably damaging	Het
Htra4	A	T	8: 25,523,713 (GRCm39)	V284E	probably damaging	Het
Igkv3-3	A	T	6: 70,664,308 (GRCm39)	D50V	probably benign	Het
Irs3	A	G	5: 137,642,209 (GRCm39)	S410P	probably benign	Het
Kif26b	C	T	1: 178,701,546 (GRCm39)	Q642*	probably null	Het
Klhl11	A	T	11: 100,355,176 (GRCm39)	M215K	probably benign	Het
Lamc3	A	G	2: 31,795,626 (GRCm39)	N337S	possibly damaging	Het
Lrrc55	G	A	2: 85,026,514 (GRCm39)	A170V	probably damaging	Het
Marchf3	A	T	18: 56,909,144 (GRCm39)	W214R	probably damaging	Het
Megf11	A	C	9: 64,416,027 (GRCm39)	T79P	probably damaging	Het
Mia3	A	G	1: 183,126,663 (GRCm39)	V26A	possibly damaging	Het
Myrf	A	G	19: 10,195,955 (GRCm39)	F353S	probably damaging	Het
Obscn	A	G	11: 58,970,634 (GRCm39)		probably null	Het
Ocstamp	T	C	2: 165,238,208 (GRCm39)	K352R	probably benign	Het
Or2t35	A	T	14: 14,407,359 (GRCm38)	I46F	probably benign	Het
Or8b12	G	T	9: 37,657,453 (GRCm39)	V8L	probably benign	Het
Osbpl3	T	C	6: 50,305,654 (GRCm39)	N434S	probably damaging	Het
Pign	A	C	1: 105,512,749 (GRCm39)	L645V	probably benign	Het
Polr1has	A	T	17: 37,275,765 (GRCm39)	I116L	probably benign	Het
Polr2a	A	G	11: 69,626,500 (GRCm39)	S1540P	probably benign	Het
Ppp2r3c	A	T	12: 55,349,420 (GRCm39)		probably null	Het
Ptprf	A	G	4: 118,082,236 (GRCm39)	V414A	possibly damaging	Het
Pyroxd2	G	A	19: 42,740,839 (GRCm39)	R22*	probably null	Het
Rab11fip2	G	A	19: 59,925,542 (GRCm39)	A225V	probably damaging	Het
Ranbp2	C	T	10: 58,328,492 (GRCm39)	A2836V	probably damaging	Het
Rimklb	G	A	6: 122,449,591 (GRCm39)	R28*	probably null	Het
Scyl3	G	A	1: 163,776,820 (GRCm39)	R404Q	probably damaging	Het
Slc9a8	A	T	2: 167,283,090 (GRCm39)	K79*	probably null	Het
Sowaha	A	T	11: 53,370,163 (GRCm39)		probably null	Het
Tnk1	A	G	11: 69,745,992 (GRCm39)	V311A	probably damaging	Het
Tnrc6a	T	A	7: 122,789,220 (GRCm39)	S1680T	probably damaging	Het
Tpp1	T	C	7: 105,398,158 (GRCm39)	Y335C	probably damaging	Het
Ttc39b	A	G	4: 83,162,340 (GRCm39)	V308A	probably benign	Het
Ttll3	A	C	6: 113,384,353 (GRCm39)	Q557P	probably damaging	Het
Ulk3	G	A	9: 57,500,201 (GRCm39)	A266T	probably benign	Het
Wfdc6b	C	A	2: 164,459,353 (GRCm39)	C138*	probably null	Het

Other mutations in Gnptg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02533:Gnptg	APN	17	25,454,429 (GRCm39)	missense	possibly damaging	0.92
R1499:Gnptg	UTSW	17	25,454,828 (GRCm39)	critical splice donor site	probably null
R5841:Gnptg	UTSW	17	25,454,391 (GRCm39)	missense	probably damaging	1.00
R6614:Gnptg	UTSW	17	25,454,235 (GRCm39)	missense	probably damaging	1.00
R7082:Gnptg	UTSW	17	25,453,694 (GRCm39)	missense	probably benign	0.04
R7236:Gnptg	UTSW	17	25,458,897 (GRCm39)	missense	possibly damaging	0.50
R8886:Gnptg	UTSW	17	25,453,628 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCATAGACACAGGTGCTTGG -3'
(R):5'- CCTGTGTTCCCAGGTACAAG -3'

Sequencing Primer
(F):5'- TAGACACAGGTGCTTGGCTCAG -3'
(R):5'- TCCCAGGTACAAGTATGAATTCTGCC -3'

Posted On

2015-11-11