Mutagenetix > Incidental Mutation

Incidental Mutation 'R6757:Gnptab'

531094

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

044873-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.924) question?

Stock #

R6757 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88214996-88283186 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88273364 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1047 (L1047P)

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: L1047P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020251
Gene: ENSMUSG00000035311
AA Change: L1047P

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

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.6%

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	A	T	1: 11,666,558 (GRCm39)	*288Y	probably null	Het
Art2a	G	T	7: 101,204,221 (GRCm39)	L106I	probably benign	Het
Bmi1	C	T	2: 18,688,840 (GRCm39)	T203M	probably damaging	Het
Cpm	A	G	10: 117,507,543 (GRCm39)	D220G	probably damaging	Het
Cyp2a22	A	C	7: 26,638,629 (GRCm39)	D52E	probably benign	Het
Dag1	A	C	9: 108,095,216 (GRCm39)	I92S	probably damaging	Het
Dntt	A	T	19: 41,025,601 (GRCm39)	H73L	probably damaging	Het
Epha5	A	C	5: 84,253,737 (GRCm39)	I716S	probably damaging	Het
Fpr-rs4	C	T	17: 18,242,394 (GRCm39)	Q134*	probably null	Het
Fzd8	T	A	18: 9,213,238 (GRCm39)	C107S	possibly damaging	Het
Garre1	G	A	7: 33,938,502 (GRCm39)	A799V	possibly damaging	Het
Gstt1	A	T	10: 75,634,217 (GRCm39)		probably null	Het
Kdm2a	T	C	19: 4,369,271 (GRCm39)	R1115G	probably damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Myo1b	C	T	1: 51,852,207 (GRCm39)	E179K	probably damaging	Het
Nrp1	T	A	8: 129,152,349 (GRCm39)	I186N	probably damaging	Het
Or10g3	A	G	14: 52,610,172 (GRCm39)	C113R	probably damaging	Het
Pole	T	C	5: 110,451,476 (GRCm39)	V835A	probably damaging	Het
Shprh	A	G	10: 11,057,252 (GRCm39)		probably null	Het
Slc39a14	A	T	14: 70,548,333 (GRCm39)	L238Q	probably damaging	Het
Spata31e5	A	C	1: 28,819,191 (GRCm39)	I30S	probably damaging	Het
Usp40	A	T	1: 87,907,759 (GRCm39)	I619N	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
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'- ATACGTCTCTCGAGCATCATG -3'
(R):5'- TTTCACATCTGCAGAGCGG -3'

Sequencing Primer
(F):5'- CCCCATTAATTGCCGTTAGGGG -3'
(R):5'- CTGCAGAGCGGGGAGAGATTC -3'

Posted On

2018-08-01