Mutagenetix > Incidental Mutation

Incidental Mutation 'R0329:Gnptab'

65112

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

038538-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.924) question?

Stock #

R0329 (G1)

Quality Score

195

Status

Not validated

Chromosome

Chromosomal Location

88214996-88283186 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88276171 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1153 (S1153P)

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: S1153P

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

SMART Domains

Protein: ENSMUSP00000020251
Gene: ENSMUSG00000035311
AA Change: S1153P

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: ENSMUST00000141343

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146132

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149562

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: 98.9%
3x: 97.8%
10x: 95.0%
20x: 89.0%

Validation Efficiency

99% (107/108)

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: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,349,430 (GRCm39)	H3668L	probably damaging	Het
Acsbg3	A	T	17: 57,190,631 (GRCm39)	I400F	probably benign	Het
Acvr1c	T	C	2: 58,174,850 (GRCm39)	T313A	probably damaging	Het
Adam28	T	C	14: 68,855,188 (GRCm39)	K651R	probably damaging	Het
Adamtsl3	A	T	7: 82,171,198 (GRCm39)	D417V	probably damaging	Het
Adgrf4	A	T	17: 42,978,204 (GRCm39)	C380S	probably damaging	Het
AI597479	T	G	1: 43,150,277 (GRCm39)	L129R	probably benign	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Anxa7	A	C	14: 20,519,566 (GRCm39)		probably null	Het
Arb2a	T	A	13: 77,910,070 (GRCm39)		probably benign	Het
Arhgap22	A	G	14: 33,091,374 (GRCm39)	R650G	possibly damaging	Het
Atp8a1	T	A	5: 67,969,416 (GRCm39)		probably benign	Het
Bcr	C	T	10: 75,017,466 (GRCm39)	T1209I	possibly damaging	Het
Bmpr1a	C	T	14: 34,151,734 (GRCm39)	S185N	probably benign	Het
Calcoco1	A	T	15: 102,624,198 (GRCm39)	M246K	probably benign	Het
Casp12	T	A	9: 5,345,534 (GRCm39)		probably benign	Het
Ccno	T	A	13: 113,126,530 (GRCm39)	L333Q	probably damaging	Het
Cdhr2	T	A	13: 54,882,614 (GRCm39)		probably benign	Het
Cftr	T	A	6: 18,226,096 (GRCm39)	M318K	probably null	Het
Ckmt2	T	A	13: 92,011,322 (GRCm39)	D96V	possibly damaging	Het
Cnnm1	C	T	19: 43,430,349 (GRCm39)	P489L	probably damaging	Het
Cntnap1	A	T	11: 101,079,135 (GRCm39)	D1175V	probably damaging	Het
Cpne5	A	T	17: 29,430,634 (GRCm39)	L92H	probably damaging	Het
Crcp	C	A	5: 130,071,083 (GRCm39)	Q61K	possibly damaging	Het
Crppa	C	T	12: 36,431,837 (GRCm39)	A22V	possibly damaging	Het
Dcaf8	T	A	1: 172,014,978 (GRCm39)	D414E	probably benign	Het
Ddx28	T	C	8: 106,736,877 (GRCm39)	T394A	probably benign	Het
Ddx55	T	C	5: 124,697,210 (GRCm39)	F191L	probably benign	Het
Dnaaf1	T	C	8: 120,322,756 (GRCm39)		probably benign	Het
Dnaaf2	C	A	12: 69,244,518 (GRCm39)	R181L	probably damaging	Het
Elac2	A	G	11: 64,870,136 (GRCm39)	Y67C	probably damaging	Het
Elf5	A	G	2: 103,260,765 (GRCm39)		probably benign	Het
Emcn	T	A	3: 137,122,575 (GRCm39)		probably benign	Het
Erbb4	T	C	1: 68,337,439 (GRCm39)		probably benign	Het
Erbin	C	A	13: 104,005,373 (GRCm39)	C114F	probably damaging	Het
Etfdh	T	C	3: 79,517,151 (GRCm39)	I353V	probably benign	Het
Fads2b	T	A	2: 85,348,895 (GRCm39)	R72S	probably benign	Het
Fbxl12	C	T	9: 20,549,776 (GRCm39)	G316D	probably damaging	Het
Gbf1	G	A	19: 46,260,709 (GRCm39)		probably null	Het
Gbp2b	T	G	3: 142,313,937 (GRCm39)	S406A	probably benign	Het
Gli3	T	G	13: 15,898,143 (GRCm39)	L741R	probably damaging	Het
Gmip	G	T	8: 70,263,468 (GRCm39)	S70I	probably benign	Het
Gp1ba	A	G	11: 70,531,235 (GRCm39)		probably benign	Het
Gramd1a	T	C	7: 30,837,679 (GRCm39)	D360G	possibly damaging	Het
Hectd4	T	C	5: 121,397,927 (GRCm39)	I285T	probably benign	Het
Hrh4	A	G	18: 13,140,302 (GRCm39)		probably benign	Het
Hsp90b1	T	C	10: 86,530,019 (GRCm39)	E226G	probably damaging	Het
Hspa13	A	T	16: 75,562,018 (GRCm39)	D60E	probably damaging	Het
Htt	T	A	5: 34,974,478 (GRCm39)		probably benign	Het
Iqca1l	T	C	5: 24,750,783 (GRCm39)		probably null	Het
Kif14	G	C	1: 136,423,764 (GRCm39)		probably benign	Het
Kit	T	G	5: 75,813,489 (GRCm39)	V888G	probably damaging	Het
Lpin3	T	C	2: 160,747,225 (GRCm39)	V827A	probably benign	Het
Lrriq4	T	C	3: 30,709,873 (GRCm39)	S406P	probably benign	Het
Man2c1	T	C	9: 57,048,467 (GRCm39)	V777A	probably benign	Het
Mcm8	A	G	2: 132,661,914 (GRCm39)	K83E	possibly damaging	Het
Mep1a	A	G	17: 43,808,789 (GRCm39)		probably null	Het
Mtor	T	A	4: 148,568,837 (GRCm39)	V1119E	probably benign	Het
Mybpc2	C	T	7: 44,158,453 (GRCm39)	A710T	possibly damaging	Het
Myo9a	C	G	9: 59,830,960 (GRCm39)	T2368S	probably damaging	Het
Nbeal1	A	G	1: 60,307,222 (GRCm39)	Y1684C	probably damaging	Het
Npm3	A	G	19: 45,737,965 (GRCm39)	F11L	probably benign	Het
Nutf2	T	A	8: 106,602,995 (GRCm39)	S37T	probably damaging	Het
Obscn	T	A	11: 58,931,267 (GRCm39)	I5790F	probably damaging	Het
Obscn	A	T	11: 58,943,332 (GRCm39)	D4833E	probably damaging	Het
Or2g1	A	T	17: 38,106,880 (GRCm39)	M182L	probably benign	Het
Or7d9	T	A	9: 20,197,153 (GRCm39)	S61T	possibly damaging	Het
Or8g35	T	C	9: 39,381,852 (GRCm39)	T57A	possibly damaging	Het
Or9g4b	T	A	2: 85,616,147 (GRCm39)	C97*	probably null	Het
Pcdhb1	A	G	18: 37,400,077 (GRCm39)	D676G	possibly damaging	Het
Pcif1	G	T	2: 164,731,364 (GRCm39)	R466L	probably damaging	Het
Pdk1	T	C	2: 71,726,018 (GRCm39)		probably benign	Het
Phxr2	T	C	10: 98,961,979 (GRCm39)		probably benign	Het
Pidd1	A	T	7: 141,019,474 (GRCm39)		probably benign	Het
Plec	A	G	15: 76,075,618 (GRCm39)		probably null	Het
Polr1a	T	A	6: 71,943,400 (GRCm39)	C1212S	possibly damaging	Het
Pot1a	A	G	6: 25,778,830 (GRCm39)		probably benign	Het
Prdm5	T	C	6: 65,839,887 (GRCm39)		probably benign	Het
Primpol	A	T	8: 47,063,496 (GRCm39)	N53K	probably damaging	Het
Pyroxd1	A	G	6: 142,307,702 (GRCm39)	I491V	probably benign	Het
Serpinb3b	G	T	1: 107,087,433 (GRCm39)	N25K	probably damaging	Het
Slc9b1	C	T	3: 135,078,996 (GRCm39)	R218*	probably null	Het
Ssbp2	T	A	13: 91,828,698 (GRCm39)		probably null	Het
Stat4	A	G	1: 52,130,029 (GRCm39)		probably benign	Het
Steap4	T	C	5: 8,025,829 (GRCm39)	V130A	possibly damaging	Het
Stoml2	A	G	4: 43,030,238 (GRCm39)		probably null	Het
Syne2	G	T	12: 76,013,727 (GRCm39)	G2974C	probably benign	Het
Tfdp2	T	G	9: 96,188,946 (GRCm39)	F200V	probably damaging	Het
Tgm4	T	C	9: 122,877,622 (GRCm39)		probably null	Het
Tie1	C	A	4: 118,341,924 (GRCm39)	R175L	probably benign	Het
Tmem145	A	G	7: 25,008,099 (GRCm39)		probably benign	Het
Tsacc	A	G	3: 88,190,169 (GRCm39)	S94P	possibly damaging	Het
Tshz3	T	A	7: 36,469,458 (GRCm39)	D482E	probably benign	Het
Tspan33	T	C	6: 29,711,091 (GRCm39)		probably null	Het
Ugt2b35	A	G	5: 87,151,264 (GRCm39)	K290R	probably null	Het
Unc80	T	C	1: 66,713,246 (GRCm39)	L2788P	possibly damaging	Het
Usp10	T	A	8: 120,663,296 (GRCm39)	C39*	probably null	Het
Utp20	T	A	10: 88,653,841 (GRCm39)	T260S	probably benign	Het
Vmn2r118	G	T	17: 55,917,717 (GRCm39)	T265K	probably damaging	Het
Vmn2r7	C	A	3: 64,598,439 (GRCm39)	C797F	probably damaging	Het
Vmn2r98	A	C	17: 19,286,609 (GRCm39)	H369P	probably benign	Het
Vps39	A	T	2: 120,169,268 (GRCm39)	Y245N	possibly damaging	Het
Wdr27	A	G	17: 15,154,721 (GRCm39)		probably benign	Het
Ythdc2	A	G	18: 44,998,127 (GRCm39)		probably benign	Het
Zcwpw2	C	A	9: 117,843,123 (GRCm39)		noncoding transcript	Het
Zdhhc1	C	A	8: 106,210,175 (GRCm39)	A81S	probably benign	Het
Zfp729a	G	T	13: 67,768,473 (GRCm39)	H585Q	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
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

Predicted Primers

Posted On

2013-08-08