Mutagenetix > Incidental Mutation

Incidental Mutation 'R7082:Gnptg'

549647

Institutional Source

Beutler Lab

Gene Symbol

Gnptg

Ensembl Gene

ENSMUSG00000035521

Gene Name

N-acetylglucosamine-1-phosphotransferase, gamma subunit

Synonyms

MMRRC Submission

045176-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R7082 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25452305-25459098 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25453694 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 283 (T283A)

Ref Sequence

ENSEMBL: ENSMUSP00000110807 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015271] [ENSMUST00000038973] [ENSMUST00000039734] [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
AA Change: T276A

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000042073
Gene: ENSMUSG00000035521
AA Change: T276A

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: ENSMUST00000115154
AA Change: T283A

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000110807
Gene: ENSMUSG00000035521
AA Change: T283A

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (88/88)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	A	T	6: 52,156,260 (GRCm39)	N109Y	unknown	Het
A430005L14Rik	C	T	4: 154,044,221 (GRCm39)	R11W	probably damaging	Het
Aadacl2	T	A	3: 59,932,306 (GRCm39)	S274T	probably damaging	Het
Ahctf1	T	C	1: 179,602,898 (GRCm39)	R887G	probably benign	Het
Aox4	G	T	1: 58,263,352 (GRCm39)	R158L	possibly damaging	Het
Atp10a	T	C	7: 58,308,567 (GRCm39)	I122T	probably damaging	Het
Batf2	G	T	19: 6,221,405 (GRCm39)	A72S	possibly damaging	Het
Bltp3a	G	T	17: 28,109,039 (GRCm39)	R1086L	probably damaging	Het
Bptf	T	C	11: 106,977,573 (GRCm39)	D749G	probably benign	Het
Cacybp	A	G	1: 160,031,229 (GRCm39)	Y200H	probably damaging	Het
Cdc40	A	T	10: 40,743,869 (GRCm39)	V76D	probably benign	Het
Cdc42ep4	T	C	11: 113,619,944 (GRCm39)	D149G	probably benign	Het
Chtop	A	G	3: 90,414,891 (GRCm39)	V9A	probably benign	Het
Cnot9	A	G	1: 74,566,165 (GRCm39)	I185M	probably damaging	Het
Col6a5	A	G	9: 105,808,438 (GRCm39)	I870T	unknown	Het
Cr1l	A	G	1: 194,806,006 (GRCm39)	I159T	probably benign	Het
Cthrc1	T	C	15: 38,940,495 (GRCm39)	S33P	probably benign	Het
Dlg2	T	A	7: 90,381,192 (GRCm39)	W44R	probably benign	Het
Dlgap4	T	C	2: 156,590,342 (GRCm39)		probably null	Het
Dna2	A	G	10: 62,790,096 (GRCm39)	H193R	possibly damaging	Het
Espnl	T	A	1: 91,262,521 (GRCm39)	F322Y	probably benign	Het
Fam171a1	G	A	2: 3,224,512 (GRCm39)	V293I	probably benign	Het
Fam76b	A	G	9: 13,744,308 (GRCm39)	Y135C	probably damaging	Het
Flvcr2	A	T	12: 85,793,728 (GRCm39)	I35F	probably benign	Het
Gm9195	T	A	14: 72,680,152 (GRCm39)	Q2219L	probably benign	Het
Grap2	G	A	15: 80,532,699 (GRCm39)	V289M	probably benign	Het
Hk3	T	C	13: 55,154,710 (GRCm39)	T767A	probably benign	Het
Hs3st5	A	G	10: 36,708,833 (GRCm39)	I123V	probably benign	Het
Il6st	A	G	13: 112,640,566 (GRCm39)	T781A	probably damaging	Het
Inpp5d	T	A	1: 87,623,102 (GRCm39)	H398Q	probably damaging	Het
Kcnk1	A	G	8: 126,722,287 (GRCm39)	Y30C	probably damaging	Het
Klhl6	T	C	16: 19,801,633 (GRCm39)	T41A	probably benign	Het
Krt14	G	A	11: 100,094,167 (GRCm39)	H476Y	possibly damaging	Het
Lingo3	G	C	10: 80,671,625 (GRCm39)	R102G	probably benign	Het
Map3k9	G	A	12: 81,771,476 (GRCm39)	T704M	probably damaging	Het
Mdn1	C	A	4: 32,762,341 (GRCm39)	N5088K	probably benign	Het
Mmp9	T	A	2: 164,790,812 (GRCm39)	S67T	probably benign	Het
Mrps18c	A	G	5: 100,952,270 (GRCm39)	E143G	probably damaging	Het
Msantd5f9	G	T	4: 73,835,808 (GRCm39)	L219M	probably benign	Het
Muc21	A	T	17: 35,932,093 (GRCm39)	S698T	unknown	Het
Nags	C	A	11: 102,038,298 (GRCm39)	R335S	possibly damaging	Het
Nars1	A	G	18: 64,637,425 (GRCm39)	V385A	possibly damaging	Het
Nipal2	A	C	15: 34,584,809 (GRCm39)	V253G	possibly damaging	Het
Nos2	C	A	11: 78,819,405 (GRCm39)	T39K	probably benign	Het
Or10p1	T	A	10: 129,443,416 (GRCm39)	*311Y	probably null	Het
Or10p1	T	A	10: 129,443,417 (GRCm39)	*311L	probably null	Het
Or51t4	T	C	7: 102,598,455 (GRCm39)	V261A	probably damaging	Het
Or52s19	C	A	7: 103,007,495 (GRCm39)	R302L	possibly damaging	Het
Or6c66	C	T	10: 129,461,634 (GRCm39)	V99M	probably benign	Het
Or9s15	G	A	1: 92,524,140 (GRCm39)		probably benign	Het
Panx3	G	A	9: 37,577,913 (GRCm39)	P106S	probably benign	Het
Pappa2	G	A	1: 158,590,689 (GRCm39)	T1655I	possibly damaging	Het
Pcdhb1	A	G	18: 37,400,044 (GRCm39)	D665G	probably damaging	Het
Pde2a	T	C	7: 101,157,303 (GRCm39)	L676P	probably damaging	Het
Pf4	A	G	5: 90,920,851 (GRCm39)	T60A	possibly damaging	Het
Pira12	C	T	7: 3,898,510 (GRCm39)	V313M	probably damaging	Het
Pld5	A	T	1: 175,917,442 (GRCm39)	C164S	probably benign	Het
Psd3	A	T	8: 68,356,800 (GRCm39)	M640K	probably benign	Het
Ptf1a	A	G	2: 19,450,676 (GRCm39)	D2G	possibly damaging	Het
Ptprq	C	T	10: 107,544,591 (GRCm39)	C313Y	probably benign	Het
Ranbp10	A	G	8: 106,500,578 (GRCm39)	S467P	probably damaging	Het
Rap1gap	C	T	4: 137,446,247 (GRCm39)	T333M	probably damaging	Het
Rfpl4	A	G	7: 5,118,558 (GRCm39)	L4P	probably benign	Het
Rgs12	A	G	5: 35,124,050 (GRCm39)	N611S	probably benign	Het
Sacs	C	A	14: 61,447,966 (GRCm39)	N3337K	possibly damaging	Het
Sbno2	A	T	10: 79,895,924 (GRCm39)		probably null	Het
Scrn2	T	A	11: 96,923,908 (GRCm39)	V264E	possibly damaging	Het
Serpinb9c	T	A	13: 33,338,390 (GRCm39)	I198L	probably benign	Het
Shank2	T	C	7: 143,964,096 (GRCm39)	F568S	probably damaging	Het
Slc47a1	C	T	11: 61,268,767 (GRCm39)	R36Q	probably benign	Het
Slc4a8	A	C	15: 100,688,908 (GRCm39)	E406A	probably damaging	Het
Speg	C	T	1: 75,388,091 (GRCm39)	T1483I	probably damaging	Het
Srbd1	A	G	17: 86,365,160 (GRCm39)	V632A	probably damaging	Het
Srd5a2	A	T	17: 74,328,515 (GRCm39)	Y188N	probably damaging	Het
Sspo	A	T	6: 48,455,543 (GRCm39)		probably null	Het
Ssx2ip	A	T	3: 146,136,703 (GRCm39)	D317V	probably benign	Het
Tmco3	G	T	8: 13,370,847 (GRCm39)	E172*	probably null	Het
Trpc4	G	A	3: 54,206,519 (GRCm39)	W573*	probably null	Het
Ttn	T	C	2: 76,580,340 (GRCm39)	I23518V	probably benign	Het
Tubal3	A	G	13: 3,983,050 (GRCm39)	T277A	possibly damaging	Het
Unc5b	A	T	10: 60,610,867 (GRCm39)	L391H	probably damaging	Het
Vmn2r76	A	G	7: 85,874,440 (GRCm39)	F846L	probably benign	Het
Vps13c	T	A	9: 67,790,735 (GRCm39)	Y338N	probably damaging	Het
Zc3hav1	G	T	6: 38,309,328 (GRCm39)	S498*	probably null	Het
Zfand4	T	A	6: 116,305,337 (GRCm39)		probably null	Het
Zfp451	A	T	1: 33,811,972 (GRCm39)		probably null	Het
Zfp607a	A	T	7: 27,578,183 (GRCm39)	I418F	probably damaging	Het
Zfp612	A	G	8: 110,816,337 (GRCm39)	T515A	probably damaging	Het
Zfp708	G	T	13: 67,219,200 (GRCm39)	L208I	possibly damaging	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
R4746:Gnptg	UTSW	17	25,454,571 (GRCm39)	unclassified	probably benign
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
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'- AGAAGCCGTGTCTACACCAC -3'
(R):5'- GATAGCATCCACCAGGGTTTAAC -3'

Sequencing Primer
(F):5'- GTGTCTACACCACACCAGTTTTG -3'
(R):5'- CATCTTGTCTAGGCACATGCAGAG -3'

Posted On

2019-05-15