Mutagenetix > Incidental Mutation

Incidental Mutation 'R1375:Gnptab'

157478

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

039439-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.924) question?

Stock #

R1375 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88214996-88283186 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88268435 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 514 (L514Q)

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: L514Q

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

SMART Domains

Protein: ENSMUSP00000020251
Gene: ENSMUSG00000035311
AA Change: L514Q

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.8%
20x: 89.3%

Validation Efficiency

100% (33/33)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,243,042 (GRCm39)	V1268A	possibly damaging	Het
Ccng1	G	A	11: 40,642,941 (GRCm39)	P169S	probably benign	Het
Cep85l	A	T	10: 53,225,354 (GRCm39)	D78E	probably damaging	Het
Csmd1	C	A	8: 16,513,095 (GRCm39)		probably null	Het
Dapk2	C	G	9: 66,127,925 (GRCm39)	R68G	probably damaging	Het
Defb15	T	C	8: 22,420,071 (GRCm39)	N19D	possibly damaging	Het
Dnah8	G	A	17: 30,956,269 (GRCm39)	G2083D	probably damaging	Het
Ggn	T	C	7: 28,871,366 (GRCm39)	S249P	probably damaging	Het
Gm17541	A	T	12: 4,739,825 (GRCm39)		probably benign	Het
Heg1	C	A	16: 33,547,246 (GRCm39)	H678N	possibly damaging	Het
Heg1	T	C	16: 33,547,679 (GRCm39)	I846T	possibly damaging	Het
Hydin	G	A	8: 111,232,854 (GRCm39)		probably null	Het
Il17b	T	C	18: 61,823,325 (GRCm39)	V53A	probably benign	Het
Inpp5f	T	A	7: 128,265,753 (GRCm39)	L166*	probably null	Het
Mdfic2	C	T	6: 98,215,260 (GRCm39)	C121Y	possibly damaging	Het
Myh9	A	T	15: 77,653,568 (GRCm39)		probably null	Het
Nsrp1	A	G	11: 76,941,543 (GRCm39)		probably benign	Het
Nup205	T	C	6: 35,177,006 (GRCm39)		probably benign	Het
Olr1	T	C	6: 129,484,039 (GRCm39)	N11S	possibly damaging	Het
Or5w1b	T	A	2: 87,476,081 (GRCm39)	N129Y	probably damaging	Het
Or6b6	A	G	7: 106,571,305 (GRCm39)	L82P	probably damaging	Het
Or6c211	A	T	10: 129,506,241 (GRCm39)	L12Q	probably null	Het
Or8b46	T	A	9: 38,450,830 (GRCm39)	V213D	possibly damaging	Het
Pipox	C	A	11: 77,772,036 (GRCm39)	E363*	probably null	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Rpp30	T	C	19: 36,078,673 (GRCm39)		probably null	Het
Septin1	T	C	7: 126,817,333 (GRCm39)	D25G	probably damaging	Het
Stk17b	T	C	1: 53,805,106 (GRCm39)	N152D	possibly damaging	Het
Tasor2	A	G	13: 3,626,029 (GRCm39)	V1307A	probably benign	Het
Thsd7b	A	T	1: 130,087,423 (GRCm39)	N1180I	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
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

Predicted Primers

PCR Primer
(F):5'- TGATGAGCTGAGCGGTCCTCTTTC -3'
(R):5'- GCCCTGACTTAGTACAAAGATGTGGTG -3'

Sequencing Primer
(F):5'- CATGGCTCGAAGTCCTCC -3'
(R):5'- GCCCCATTGAGAAGAATTACTTTAG -3'

Posted On

2014-02-18