Mutagenetix > Incidental Mutation

Incidental Mutation 'R6910:Gnptab'

538981

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

045002-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.924) question?

Stock #

R6910 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88214996-88283186 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 88267258 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 450 (G450S)

Ref Sequence

ENSEMBL: ENSMUSP00000020251 (fasta)

Gene Model

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

AlphaFold

Q69ZN6

Predicted Effect

probably damaging
Transcript: ENSMUST00000020251
AA Change: G450S

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

SMART Domains

Protein: ENSMUSP00000020251
Gene: ENSMUSG00000035311
AA Change: G450S

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

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

0.5214

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

100% (37/37)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cfap54	A	G	10: 92,672,374 (GRCm39)	S2899P	probably benign	Het
Chil5	A	G	3: 105,926,977 (GRCm39)	W82R	probably damaging	Het
Dennd3	A	G	15: 73,426,965 (GRCm39)	T781A	probably benign	Het
Epha2	A	G	4: 141,048,824 (GRCm39)	D597G	probably damaging	Het
Gcn1	A	G	5: 115,744,597 (GRCm39)	T1598A	probably benign	Het
Glp2r	A	G	11: 67,621,497 (GRCm39)	F162S	probably benign	Het
Gm17655	T	A	5: 110,195,039 (GRCm39)	R248*	probably null	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Hapln2	A	G	3: 87,931,135 (GRCm39)	Y127H	probably damaging	Het
Hdac4	G	T	1: 91,909,875 (GRCm39)	T463K	probably damaging	Het
Ift80	A	C	3: 68,835,068 (GRCm39)	S458A	probably benign	Het
Lama1	A	G	17: 68,098,459 (GRCm39)	D1846G	possibly damaging	Het
Map3k8	A	G	18: 4,340,801 (GRCm39)	I171T	probably benign	Het
Micu1	A	G	10: 59,576,489 (GRCm39)	E115G	probably damaging	Het
Mrpl39	A	G	16: 84,532,080 (GRCm39)	V9A	unknown	Het
Ncoa7	T	G	10: 30,570,117 (GRCm39)	I281L	possibly damaging	Het
Nms	A	G	1: 38,980,976 (GRCm39)	E54G	probably benign	Het
Nrip1	G	A	16: 76,091,305 (GRCm39)	A84V	probably damaging	Het
Or10ak9	T	A	4: 118,726,335 (GRCm39)	M119K	probably damaging	Het
Or11g27	G	A	14: 50,771,330 (GRCm39)	V154M	probably benign	Het
Pcdhga10	T	A	18: 37,881,285 (GRCm39)	S349T	probably damaging	Het
R3hcc1	G	A	14: 69,935,024 (GRCm39)	P454L	probably damaging	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Ryr3	T	C	2: 112,788,520 (GRCm39)	D170G	probably damaging	Het
Sanbr	A	G	11: 23,570,447 (GRCm39)	V151A	probably damaging	Het
Scp2	C	A	4: 107,962,283 (GRCm39)	G81C	probably damaging	Het
Sez6	A	G	11: 77,844,695 (GRCm39)	T173A	possibly damaging	Het
Syne1	T	C	10: 4,998,887 (GRCm39)	H8142R	probably benign	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tnfrsf11a	A	G	1: 105,772,272 (GRCm39)	T520A	probably damaging	Het
Tpm1	A	G	9: 66,939,256 (GRCm39)	S170P	probably damaging	Het
Try5	T	C	6: 41,288,733 (GRCm39)	D54G	possibly damaging	Het
Vmn2r-ps158	T	C	7: 42,673,475 (GRCm39)	F178L	probably benign	Het
Zan	T	C	5: 137,417,342 (GRCm39)	E3041G	unknown	Het
Zfp1001	A	T	2: 150,165,987 (GRCm39)	Q56L	probably benign	Het
Zfp616	A	T	11: 73,975,828 (GRCm39)	H699L	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
IGL03130:Gnptab	APN	10	88,272,233 (GRCm39)	missense	possibly damaging	0.95
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
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

Predicted Primers

PCR Primer
(F):5'- CCGAATATCAGCAGCCAGTCTG -3'
(R):5'- GAGAAGTGCCTTCAACAATGGATC -3'

Sequencing Primer
(F):5'- GTCTGTGGGAAACCAAATT -3'
(R):5'- TGGATCCCATGAACCAGTTG -3'

Posted On

2018-11-06