Mutagenetix > Incidental Mutation

Incidental Mutation 'R6614:Gnptg'

523885

Institutional Source

Beutler Lab

Gene Symbol

Gnptg

Ensembl Gene

ENSMUSG00000035521

Gene Name

N-acetylglucosamine-1-phosphotransferase, gamma subunit

Synonyms

MMRRC Submission

044737-MU

Accession Numbers

Essential gene?

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

Stock #

R6614 (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 25454235 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 184 (Y184C)

Ref Sequence

ENSEMBL: ENSMUSP00000110807 (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 damaging
Transcript: ENSMUST00000038973
AA Change: Y177C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000042073
Gene: ENSMUSG00000035521
AA Change: Y177C

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 damaging
Transcript: ENSMUST00000115154
AA Change: Y184C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110807
Gene: ENSMUSG00000035521
AA Change: Y184C

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: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.3%

Validation Efficiency

98% (46/47)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	T	A	8: 125,587,986 (GRCm39)		probably null	Het
Abca13	A	T	11: 9,244,371 (GRCm39)	N2078I	probably benign	Het
Abcc2	A	G	19: 43,807,800 (GRCm39)	I814V	probably benign	Het
Adamts4	A	G	1: 171,084,193 (GRCm39)	R557G	probably benign	Het
Bltp3a	T	A	17: 28,095,899 (GRCm39)	I70N	probably benign	Het
Bysl	A	T	17: 47,912,767 (GRCm39)	L341Q	probably damaging	Het
Csmd1	C	T	8: 17,266,803 (GRCm39)	G41D	probably damaging	Het
Dnah11	T	C	12: 117,850,411 (GRCm39)	D4221G	possibly damaging	Het
Dnah7c	C	A	1: 46,688,500 (GRCm39)	T1890K	probably benign	Het
Dnah7c	A	G	1: 46,688,511 (GRCm39)	S1894G	probably benign	Het
Dnajc21	A	G	15: 10,470,349 (GRCm39)		probably null	Het
Elavl1	C	A	8: 4,339,818 (GRCm39)	A255S	probably damaging	Het
Filip1	C	T	9: 79,723,121 (GRCm39)	G1166D	probably damaging	Het
Ifit3b	A	T	19: 34,588,919 (GRCm39)	S32C	probably benign	Het
Kcnh7	T	G	2: 62,607,940 (GRCm39)	Y547S	probably damaging	Het
Lima1	G	A	15: 99,681,461 (GRCm39)	A243V	probably damaging	Het
Mast3	T	A	8: 71,234,610 (GRCm39)	I67F	possibly damaging	Het
Ncor1	A	C	11: 62,221,645 (GRCm39)	M1283R	probably benign	Het
Ndufv1	G	A	19: 4,058,749 (GRCm39)	T253I	probably benign	Het
Neurog1	G	T	13: 56,399,637 (GRCm39)	Q37K	probably benign	Het
Nol4	T	G	18: 23,053,913 (GRCm39)	K200Q	probably damaging	Het
Obscn	T	C	11: 58,903,627 (GRCm39)	H7599R	probably benign	Het
Oog4	A	G	4: 143,164,445 (GRCm39)	V362A	possibly damaging	Het
Oosp1	T	A	19: 11,668,314 (GRCm39)	D23V	probably damaging	Het
Or11a4	T	C	17: 37,536,790 (GRCm39)	V258A	probably benign	Het
Or11g24	C	T	14: 50,662,546 (GRCm39)	T190I	probably benign	Het
Or4k1	T	A	14: 50,377,821 (GRCm39)	I92F	probably damaging	Het
Or4n4b	T	A	14: 50,536,494 (GRCm39)	I91L	probably benign	Het
Or7a41	C	A	10: 78,870,925 (GRCm39)	C98*	probably null	Het
P2rx3	A	G	2: 84,865,543 (GRCm39)	I34T	probably damaging	Het
Pate7	A	G	9: 35,688,421 (GRCm39)	W55R	probably damaging	Het
Pla2g4a	A	T	1: 149,717,986 (GRCm39)	V621E	probably benign	Het
Prpf39	T	G	12: 65,089,337 (GRCm39)	V25G	probably benign	Het
Psd	T	C	19: 46,301,851 (GRCm39)	K913E	probably benign	Het
Ptx4	A	T	17: 25,341,676 (GRCm39)	R50S	possibly damaging	Het
Rex2	A	T	4: 147,137,018 (GRCm39)	M16L	probably benign	Het
Serac1	A	T	17: 6,095,937 (GRCm39)	V604E	probably damaging	Het
Sp140l2	A	C	1: 85,179,781 (GRCm39)		probably null	Het
Spata31h1	T	A	10: 82,127,482 (GRCm39)	N1843Y	probably benign	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Stxbp6	T	A	12: 44,908,058 (GRCm39)	T187S	probably benign	Het
Tg	G	A	15: 66,607,108 (GRCm39)	C215Y	probably damaging	Het
Top2b	A	T	14: 16,407,142 (GRCm38)	K671*	probably null	Het
Trmt1	G	T	8: 85,415,962 (GRCm39)	V7L	probably benign	Het
Ttn	C	T	2: 76,615,174 (GRCm39)	R15102H	probably benign	Het
Unc79	A	T	12: 102,957,689 (GRCm39)	I35F	probably 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
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'- CTGGGACCTTTAAGTAGCCAG -3'
(R):5'- CTCACCTGTGGAAAGATCAACC -3'

Sequencing Primer
(F):5'- GGACCTTTAAGTAGCCAGCATCCTC -3'
(R):5'- CCTGTGGAAAGATCAACCGACTG -3'

Posted On

2018-06-22