Mutagenetix > Incidental Mutations

Incidental Mutation 'R0103:Gnptab'

17455

Institutional Source

Beutler Lab

Gene Symbol

Gnptab

Ensembl Gene

ENSMUSG00000035311

Gene Name

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

Synonyms

EG432486

MMRRC Submission

038389-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.944) question?

Stock #

R0103 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

88379132-88447329 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88429519 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 331 (Y331C)

Ref Sequence

ENSEMBL: ENSMUSP00000020251 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000020251
AA Change: Y331C

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

SMART Domains

Protein: ENSMUSP00000020251
Gene: ENSMUSG00000035311
AA Change: Y331C

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

Meta Mutation Damage Score

0.9748

Coding Region Coverage

1x: 89.4%
3x: 86.4%
10x: 77.8%
20x: 63.0%

Validation Efficiency

91% (89/98)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	C	11: 9,273,951	R443S	probably damaging	Het
Adgrl3	A	G	5: 81,792,347		probably benign	Het
Anapc1	T	C	2: 128,680,452		probably benign	Het
Aqr	T	A	2: 114,149,016	I313F	probably damaging	Het
Arfgap3	A	T	15: 83,322,721		probably benign	Het
Asah2	G	T	19: 32,018,977	H374N	probably benign	Het
Ccdc106	C	A	7: 5,057,545	Q35K	probably benign	Het
Ccm2l	G	T	2: 153,067,919	E64*	probably null	Het
Cep85l	A	T	10: 53,278,174	D776E	possibly damaging	Het
Cfap52	T	A	11: 67,925,125	I611F	possibly damaging	Het
Cldn22	C	T	8: 47,824,554	T9M	probably benign	Het
Coa7	T	C	4: 108,338,141	L89P	possibly damaging	Het
Cox7a2l	A	T	17: 83,514,272	Y2N	probably damaging	Het
Cyp27a1	A	C	1: 74,735,915	E301A	probably benign	Het
Dennd4c	A	G	4: 86,812,446	Y860C	probably benign	Het
Dhx58	T	C	11: 100,695,270	T642A	probably damaging	Het
Dlg4	A	G	11: 70,031,193	Y87C	probably damaging	Het
Dnah6	C	T	6: 73,092,172	E2511K	probably damaging	Het
Entpd5	C	A	12: 84,396,943	E9*	probably null	Het
Fbln2	A	C	6: 91,271,550	I1066L	probably benign	Het
Fhl2	C	T	1: 43,153,221	R4H	probably benign	Het
Frmpd1	T	A	4: 45,229,884	I17K	probably damaging	Het
Gbp7	T	A	3: 142,546,538	N627K	probably benign	Het
Gm16432	A	G	1: 178,116,205	N703D	unknown	Het
Hibadh	T	A	6: 52,557,877	M173L	probably benign	Het
Itga1	T	C	13: 115,016,254	I211V	probably benign	Het
Keg1	A	T	19: 12,718,916	I155F	possibly damaging	Het
Ltb	A	G	17: 35,195,040		probably benign	Het
Manea	A	T	4: 26,329,080		probably null	Het
Ms4a4a	T	A	19: 11,392,684	M202K	possibly damaging	Het
Myo3a	T	G	2: 22,544,322		probably benign	Het
Myo9b	C	T	8: 71,323,849		probably benign	Het
Nanos3	C	T	8: 84,176,134	R133Q	probably damaging	Het
Ncor1	G	T	11: 62,343,045	Q444K	possibly damaging	Het
Nek7	A	T	1: 138,544,242	C53*	probably null	Het
Obscn	G	T	11: 59,062,696	Y4044*	probably null	Het
Pcsk6	T	C	7: 65,929,097		probably benign	Het
Phax	T	A	18: 56,562,713	V7D	probably benign	Het
Phxr4	T	C	9: 13,431,791		probably benign	Het
Pkhd1	T	A	1: 20,523,359	D1510V	probably benign	Het
Pkhd1l1	T	C	15: 44,597,141	C4249R	probably benign	Het
Prpf39	T	C	12: 65,055,283	V378A	possibly damaging	Het
Psd2	A	G	18: 36,004,717	N455S	probably damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rab4b	A	G	7: 27,174,502	I117T	probably benign	Het
Rad9b	A	T	5: 122,331,527	V348E	probably damaging	Het
Rcor1	T	C	12: 111,109,778		probably benign	Het
Rhoc	A	T	3: 104,791,991	E32V	possibly damaging	Het
Rnf40	T	G	7: 127,600,571	V925G	probably damaging	Het
Slc25a32	A	T	15: 39,099,897	Y176*	probably null	Het
Slc7a1	T	A	5: 148,352,426	K4*	probably null	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Taar4	A	T	10: 23,961,406	N305Y	probably damaging	Het
Tcaf1	G	T	6: 42,686,390	D185E	probably benign	Het
Tmem138	T	C	19: 10,574,952	N62S	possibly damaging	Het
Tnfrsf25	C	T	4: 152,116,948	P65S	possibly damaging	Het
Trp53bp1	A	T	2: 121,236,759	S495R	possibly damaging	Het
Trpv3	T	C	11: 73,293,979	F597S	probably damaging	Het
Ugt2a3	A	G	5: 87,336,718	V149A	possibly damaging	Het
Ush2a	T	G	1: 188,319,070	I251R	possibly damaging	Het
Vamp4	T	C	1: 162,589,539	C114R	possibly damaging	Het
Zc3h13	T	A	14: 75,330,468	V1067E	probably damaging	Het
Zcwpw1	G	A	5: 137,810,113	W274*	probably null	Het

Other mutations in Gnptab

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01326:Gnptab	APN	10	88433065	missense	probably damaging	0.99
IGL01346:Gnptab	APN	10	88436179	missense	possibly damaging	0.65
IGL01626:Gnptab	APN	10	88437495	missense	probably damaging	0.98
IGL01642:Gnptab	APN	10	88436132	missense	possibly damaging	0.89
IGL02121:Gnptab	APN	10	88429461	missense	possibly damaging	0.90
IGL03076:Gnptab	APN	10	88440289	missense	possibly damaging	0.91
IGL03130:Gnptab	APN	10	88436371	missense	possibly damaging	0.95
maze	UTSW	10	88432573	missense	probably damaging	1.00
R0103:Gnptab	UTSW	10	88429519	missense	probably damaging	1.00
R0114:Gnptab	UTSW	10	88433400	missense	possibly damaging	0.48
R0206:Gnptab	UTSW	10	88439510	missense	probably damaging	0.98
R0288:Gnptab	UTSW	10	88433105	missense	probably benign	0.00
R0329:Gnptab	UTSW	10	88440309	missense	probably damaging	1.00
R0330:Gnptab	UTSW	10	88440309	missense	probably damaging	1.00
R0369:Gnptab	UTSW	10	88433594	missense	possibly damaging	0.87
R0385:Gnptab	UTSW	10	88436525	missense	probably damaging	1.00
R0522:Gnptab	UTSW	10	88431466	splice site	probably benign
R0569:Gnptab	UTSW	10	88428557	missense	possibly damaging	0.89
R0671:Gnptab	UTSW	10	88443304	splice site	probably benign
R0834:Gnptab	UTSW	10	88429952	missense	probably damaging	1.00
R1375:Gnptab	UTSW	10	88432573	missense	probably damaging	1.00
R1443:Gnptab	UTSW	10	88434081	missense	probably damaging	1.00
R1464:Gnptab	UTSW	10	88445754	splice site	probably benign
R1471:Gnptab	UTSW	10	88445763	missense	probably benign
R1570:Gnptab	UTSW	10	88419454	missense	probably damaging	0.99
R1612:Gnptab	UTSW	10	88428482	splice site	probably null
R1614:Gnptab	UTSW	10	88414589	missense	probably benign
R1638:Gnptab	UTSW	10	88436167	missense	possibly damaging	0.94
R1739:Gnptab	UTSW	10	88436095	missense	probably benign	0.14
R1894:Gnptab	UTSW	10	88419127	missense	possibly damaging	0.69
R2092:Gnptab	UTSW	10	88440305	nonsense	probably null
R2118:Gnptab	UTSW	10	88436398	missense	probably benign	0.13
R2144:Gnptab	UTSW	10	88428506	missense	possibly damaging	0.89
R2174:Gnptab	UTSW	10	88434044	missense	probably damaging	1.00
R3847:Gnptab	UTSW	10	88433577	nonsense	probably null
R3943:Gnptab	UTSW	10	88433894	missense	probably benign
R4434:Gnptab	UTSW	10	88412622	missense	probably damaging	1.00
R4545:Gnptab	UTSW	10	88414595	missense	probably benign	0.00
R4776:Gnptab	UTSW	10	88436528	missense	probably damaging	1.00
R4786:Gnptab	UTSW	10	88436182	missense	probably damaging	1.00
R4880:Gnptab	UTSW	10	88432551	nonsense	probably null
R4889:Gnptab	UTSW	10	88433913	missense	probably benign	0.00
R4923:Gnptab	UTSW	10	88429623	missense	probably benign	0.17
R5694:Gnptab	UTSW	10	88414486	missense	probably benign	0.01
R5943:Gnptab	UTSW	10	88433514	missense	probably benign	0.00
R6027:Gnptab	UTSW	10	88433225	missense	probably damaging	0.98
R6074:Gnptab	UTSW	10	88433078	missense	probably damaging	1.00
R6119:Gnptab	UTSW	10	88431395	missense	probably damaging	1.00
R6182:Gnptab	UTSW	10	88429480	missense	possibly damaging	0.71
R6757:Gnptab	UTSW	10	88437502	missense	probably damaging	0.98
R6910:Gnptab	UTSW	10	88431396	missense	probably damaging	1.00
R6911:Gnptab	UTSW	10	88431396	missense	probably damaging	1.00
R7094:Gnptab	UTSW	10	88379504	missense	possibly damaging	0.66
R7101:Gnptab	UTSW	10	88440312	missense	probably benign	0.19
R7164:Gnptab	UTSW	10	88434070	nonsense	probably null
R7214:Gnptab	UTSW	10	88379157	unclassified	probably benign
R7316:Gnptab	UTSW	10	88400710	missense	probably damaging	1.00
R7463:Gnptab	UTSW	10	88431389	missense	probably damaging	1.00
R7596:Gnptab	UTSW	10	88443370	missense	probably damaging	0.99
R7654:Gnptab	UTSW	10	88445819	missense	possibly damaging	0.63
R7722:Gnptab	UTSW	10	88379528	missense	probably damaging	0.99
R7770:Gnptab	UTSW	10	88411920	missense	probably benign	0.41
R7791:Gnptab	UTSW	10	88440222	critical splice acceptor site	probably null
R7838:Gnptab	UTSW	10	88440392	critical splice donor site	probably null
R8002:Gnptab	UTSW	10	88440268	missense	probably benign	0.14
R8168:Gnptab	UTSW	10	88419133	missense	probably benign	0.41
R8219:Gnptab	UTSW	10	88433792	missense	probably benign
R8221:Gnptab	UTSW	10	88440392	critical splice donor site	probably null
R8313:Gnptab	UTSW	10	88439209	missense	probably damaging	1.00
R8351:Gnptab	UTSW	10	88414486	missense	probably benign	0.01
R8487:Gnptab	UTSW	10	88432646	critical splice donor site	probably null
X0064:Gnptab	UTSW	10	88436530	missense	probably damaging	1.00
X0066:Gnptab	UTSW	10	88412011	missense	probably damaging	0.99
Z1176:Gnptab	UTSW	10	88431368	missense	probably damaging	1.00
Z1177:Gnptab	UTSW	10	88440270	missense	probably damaging	1.00

Posted On

2013-01-31