Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03130:Gnptab'

410287

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gnptab

Ensembl Gene

ENSMUSG00000035311

Gene Name

N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits

Synonyms

EG432486

Accession Numbers

Essential gene?

Probably essential (E-score: 0.941) question?

Stock #

IGL03130

Quality Score

Status

Chromosome

Chromosomal Location

88214996-88283186 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88272233 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 958 (K958E)

Ref Sequence

ENSEMBL: ENSMUSP00000020251 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020251] [ENSMUST00000151273]

AlphaFold

Q69ZN6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020251
AA Change: K958E

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000020251
Gene: ENSMUSG00000035311
AA Change: K958E

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:Stealth_CR1	73	101	6.6e-14	PFAM
Pfam:Stealth_CR2	322	429	8.8e-49	PFAM
NL	431	469	3.82e-7	SMART
low complexity region	480	490	N/A	INTRINSIC
NL	498	536	2.37e-2	SMART
DMAP_binding	699	813	6.14e-38	SMART
Pfam:Stealth_CR3	934	982	2.9e-21	PFAM
Pfam:Stealth_CR4	1117	1173	7.9e-28	PFAM
transmembrane domain	1192	1214	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132738

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141343

Predicted Effect

probably benign
Transcript: ENSMUST00000151273

SMART Domains

Protein: ENSMUSP00000118025
Gene: ENSMUSG00000035311

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155306

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010]
PHENOTYPE: Homozygous mutations cause stunted growth, high lysosomal enzyme levels, skeletal defects, retinal degeneration and secretory cell lesions. Homozygotes for an ENU allele show skeletal and facial defects, altered enzymatic activities, lysosomal storage, Purkinje cell loss, ataxia and premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb3	G	T	10: 85,224,347 (GRCm39)		probably null	Het
Agtpbp1	T	C	13: 59,622,403 (GRCm39)	E941G	possibly damaging	Het
Akap11	A	T	14: 78,747,808 (GRCm39)	Y1526*	probably null	Het
Brd1	T	C	15: 88,572,577 (GRCm39)	I1165V	probably benign	Het
Cdan1	T	C	2: 120,558,393 (GRCm39)	D473G	possibly damaging	Het
Clstn3	G	A	6: 124,436,222 (GRCm39)	L176F	probably damaging	Het
Ctif	T	C	18: 75,654,689 (GRCm39)	N279S	probably benign	Het
Dpy19l3	A	G	7: 35,452,097 (GRCm39)	S16P	probably benign	Het
Ecpas	A	T	4: 58,800,288 (GRCm39)	C1806S	probably benign	Het
Fam151b	T	C	13: 92,586,701 (GRCm39)	Y244C	probably benign	Het
Gbf1	T	C	19: 46,255,787 (GRCm39)	M750T	possibly damaging	Het
Gm11564	T	A	11: 99,705,879 (GRCm39)	T184S	unknown	Het
Hibch	T	C	1: 52,924,310 (GRCm39)	S162P	possibly damaging	Het
Itpr1	T	C	6: 108,500,362 (GRCm39)	S2651P	probably benign	Het
LTO1	A	G	7: 144,470,197 (GRCm39)	E42G	probably damaging	Het
Lyrm1	A	G	7: 119,513,403 (GRCm39)	D56G	probably damaging	Het
Manba	T	C	3: 135,256,920 (GRCm39)	Y528H	probably damaging	Het
Npas2	A	C	1: 39,352,109 (GRCm39)	E186D	probably damaging	Het
Or4f61	A	T	2: 111,922,166 (GRCm39)	D293E	probably benign	Het
Or7c19	A	T	8: 85,957,258 (GRCm39)	I45F	possibly damaging	Het
Or7d11	C	A	9: 19,966,668 (GRCm39)	L30F	probably benign	Het
Pcdhb6	T	A	18: 37,468,640 (GRCm39)	Y520*	probably null	Het
Plekhm1	C	T	11: 103,268,207 (GRCm39)	R588H	probably benign	Het
Psg23	A	T	7: 18,344,341 (GRCm39)	H371Q	probably benign	Het
Ptpn12	T	C	5: 21,207,610 (GRCm39)		probably benign	Het
Rela	T	C	19: 5,689,909 (GRCm39)	C120R	probably damaging	Het
Rps6kc1	T	A	1: 190,532,008 (GRCm39)	I665F	probably damaging	Het
Spg21	A	G	9: 65,380,990 (GRCm39)	Q99R	probably benign	Het
St14	A	G	9: 31,008,367 (GRCm39)		probably null	Het
Sult1c2	A	T	17: 54,137,099 (GRCm39)	N274K	probably benign	Het
Syk	T	C	13: 52,776,768 (GRCm39)	V256A	probably benign	Het
Tcte1	A	G	17: 45,844,222 (GRCm39)	D66G	probably damaging	Het
Tgm4	C	T	9: 122,885,580 (GRCm39)	T374M	probably damaging	Het
Tns4	T	C	11: 98,959,095 (GRCm39)	H668R	probably damaging	Het
Tsn	C	T	1: 118,232,999 (GRCm39)	A102T	possibly damaging	Het
Uvssa	T	A	5: 33,549,189 (GRCm39)	S350T	possibly damaging	Het
Vmn1r3	T	A	4: 3,185,214 (GRCm39)	Y31F	possibly damaging	Het
Vmn2r114	A	T	17: 23,515,970 (GRCm39)		probably benign	Het
Vmn2r27	T	C	6: 124,169,276 (GRCm39)	D618G	possibly damaging	Het
Vmn2r91	T	A	17: 18,330,373 (GRCm39)		probably benign	Het
Vti1a	T	C	19: 55,380,279 (GRCm39)	Y143H	probably damaging	Het
Zfand4	T	A	6: 116,250,620 (GRCm39)	Y17N	probably damaging	Het
Zfp729a	T	C	13: 67,767,761 (GRCm39)		probably null	Het
Zfp827	A	G	8: 79,787,586 (GRCm39)	T251A	probably damaging	Het

Other mutations in Gnptab

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01326:Gnptab	APN	10	88,268,927 (GRCm39)	missense	probably damaging	0.99
IGL01346:Gnptab	APN	10	88,272,041 (GRCm39)	missense	possibly damaging	0.65
IGL01626:Gnptab	APN	10	88,273,357 (GRCm39)	missense	probably damaging	0.98
IGL01642:Gnptab	APN	10	88,271,994 (GRCm39)	missense	possibly damaging	0.89
IGL02121:Gnptab	APN	10	88,265,323 (GRCm39)	missense	possibly damaging	0.90
IGL03076:Gnptab	APN	10	88,276,151 (GRCm39)	missense	possibly damaging	0.91
maze	UTSW	10	88,268,435 (GRCm39)	missense	probably damaging	1.00
R0103:Gnptab	UTSW	10	88,265,381 (GRCm39)	missense	probably damaging	1.00
R0103:Gnptab	UTSW	10	88,265,381 (GRCm39)	missense	probably damaging	1.00
R0114:Gnptab	UTSW	10	88,269,262 (GRCm39)	missense	possibly damaging	0.48
R0206:Gnptab	UTSW	10	88,275,372 (GRCm39)	missense	probably damaging	0.98
R0288:Gnptab	UTSW	10	88,268,967 (GRCm39)	missense	probably benign	0.00
R0329:Gnptab	UTSW	10	88,276,171 (GRCm39)	missense	probably damaging	1.00
R0330:Gnptab	UTSW	10	88,276,171 (GRCm39)	missense	probably damaging	1.00
R0369:Gnptab	UTSW	10	88,269,456 (GRCm39)	missense	possibly damaging	0.87
R0385:Gnptab	UTSW	10	88,272,387 (GRCm39)	missense	probably damaging	1.00
R0522:Gnptab	UTSW	10	88,267,328 (GRCm39)	splice site	probably benign
R0569:Gnptab	UTSW	10	88,264,419 (GRCm39)	missense	possibly damaging	0.89
R0671:Gnptab	UTSW	10	88,279,166 (GRCm39)	splice site	probably benign
R0834:Gnptab	UTSW	10	88,265,814 (GRCm39)	missense	probably damaging	1.00
R1375:Gnptab	UTSW	10	88,268,435 (GRCm39)	missense	probably damaging	1.00
R1443:Gnptab	UTSW	10	88,269,943 (GRCm39)	missense	probably damaging	1.00
R1464:Gnptab	UTSW	10	88,281,616 (GRCm39)	splice site	probably benign
R1471:Gnptab	UTSW	10	88,281,625 (GRCm39)	missense	probably benign
R1570:Gnptab	UTSW	10	88,255,316 (GRCm39)	missense	probably damaging	0.99
R1612:Gnptab	UTSW	10	88,264,344 (GRCm39)	splice site	probably null
R1614:Gnptab	UTSW	10	88,250,451 (GRCm39)	missense	probably benign
R1638:Gnptab	UTSW	10	88,272,029 (GRCm39)	missense	possibly damaging	0.94
R1739:Gnptab	UTSW	10	88,271,957 (GRCm39)	missense	probably benign	0.14
R1894:Gnptab	UTSW	10	88,254,989 (GRCm39)	missense	possibly damaging	0.69
R2092:Gnptab	UTSW	10	88,276,167 (GRCm39)	nonsense	probably null
R2118:Gnptab	UTSW	10	88,272,260 (GRCm39)	missense	probably benign	0.13
R2144:Gnptab	UTSW	10	88,264,368 (GRCm39)	missense	possibly damaging	0.89
R2174:Gnptab	UTSW	10	88,269,906 (GRCm39)	missense	probably damaging	1.00
R3847:Gnptab	UTSW	10	88,269,439 (GRCm39)	nonsense	probably null
R3943:Gnptab	UTSW	10	88,269,756 (GRCm39)	missense	probably benign
R4434:Gnptab	UTSW	10	88,248,484 (GRCm39)	missense	probably damaging	1.00
R4545:Gnptab	UTSW	10	88,250,457 (GRCm39)	missense	probably benign	0.00
R4776:Gnptab	UTSW	10	88,272,390 (GRCm39)	missense	probably damaging	1.00
R4786:Gnptab	UTSW	10	88,272,044 (GRCm39)	missense	probably damaging	1.00
R4880:Gnptab	UTSW	10	88,268,413 (GRCm39)	nonsense	probably null
R4889:Gnptab	UTSW	10	88,269,775 (GRCm39)	missense	probably benign	0.00
R4923:Gnptab	UTSW	10	88,265,485 (GRCm39)	missense	probably benign	0.17
R5694:Gnptab	UTSW	10	88,250,348 (GRCm39)	missense	probably benign	0.01
R5943:Gnptab	UTSW	10	88,269,376 (GRCm39)	missense	probably benign	0.00
R6027:Gnptab	UTSW	10	88,269,087 (GRCm39)	missense	probably damaging	0.98
R6074:Gnptab	UTSW	10	88,268,940 (GRCm39)	missense	probably damaging	1.00
R6119:Gnptab	UTSW	10	88,267,257 (GRCm39)	missense	probably damaging	1.00
R6182:Gnptab	UTSW	10	88,265,342 (GRCm39)	missense	possibly damaging	0.71
R6757:Gnptab	UTSW	10	88,273,364 (GRCm39)	missense	probably damaging	0.98
R6910:Gnptab	UTSW	10	88,267,258 (GRCm39)	missense	probably damaging	1.00
R6911:Gnptab	UTSW	10	88,267,258 (GRCm39)	missense	probably damaging	1.00
R7094:Gnptab	UTSW	10	88,215,366 (GRCm39)	missense	possibly damaging	0.66
R7101:Gnptab	UTSW	10	88,276,174 (GRCm39)	missense	probably benign	0.19
R7164:Gnptab	UTSW	10	88,269,932 (GRCm39)	nonsense	probably null
R7214:Gnptab	UTSW	10	88,215,019 (GRCm39)	unclassified	probably benign
R7316:Gnptab	UTSW	10	88,236,572 (GRCm39)	missense	probably damaging	1.00
R7463:Gnptab	UTSW	10	88,267,251 (GRCm39)	missense	probably damaging	1.00
R7596:Gnptab	UTSW	10	88,279,232 (GRCm39)	missense	probably damaging	0.99
R7654:Gnptab	UTSW	10	88,281,681 (GRCm39)	missense	possibly damaging	0.63
R7722:Gnptab	UTSW	10	88,215,390 (GRCm39)	missense	probably damaging	0.99
R7770:Gnptab	UTSW	10	88,247,782 (GRCm39)	missense	probably benign	0.41
R7791:Gnptab	UTSW	10	88,276,084 (GRCm39)	critical splice acceptor site	probably null
R7838:Gnptab	UTSW	10	88,276,254 (GRCm39)	critical splice donor site	probably null
R8002:Gnptab	UTSW	10	88,276,130 (GRCm39)	missense	probably benign	0.14
R8168:Gnptab	UTSW	10	88,254,995 (GRCm39)	missense	probably benign	0.41
R8219:Gnptab	UTSW	10	88,269,654 (GRCm39)	missense	probably benign
R8221:Gnptab	UTSW	10	88,276,254 (GRCm39)	critical splice donor site	probably null
R8313:Gnptab	UTSW	10	88,275,071 (GRCm39)	missense	probably damaging	1.00
R8351:Gnptab	UTSW	10	88,250,348 (GRCm39)	missense	probably benign	0.01
R8487:Gnptab	UTSW	10	88,268,508 (GRCm39)	critical splice donor site	probably null
R9108:Gnptab	UTSW	10	88,269,400 (GRCm39)	missense
R9352:Gnptab	UTSW	10	88,268,350 (GRCm39)	missense	probably benign	0.05
R9489:Gnptab	UTSW	10	88,268,992 (GRCm39)	missense	probably damaging	1.00
R9598:Gnptab	UTSW	10	88,247,876 (GRCm39)	missense	probably damaging	0.97
R9760:Gnptab	UTSW	10	88,267,310 (GRCm39)	missense	probably damaging	1.00
R9771:Gnptab	UTSW	10	88,268,485 (GRCm39)	missense	probably damaging	1.00
X0064:Gnptab	UTSW	10	88,272,392 (GRCm39)	missense	probably damaging	1.00
X0066:Gnptab	UTSW	10	88,247,873 (GRCm39)	missense	probably damaging	0.99
Z1176:Gnptab	UTSW	10	88,267,230 (GRCm39)	missense	probably damaging	1.00
Z1177:Gnptab	UTSW	10	88,276,132 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02