Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01155:Large1'

51850

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Large1

Ensembl Gene

ENSMUSG00000004383

Gene Name

LARGE xylosyl- and glucuronyltransferase 1

Synonyms

froggy, BPFD#36, fg, enr

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.611) question?

Stock #

IGL01155

Quality Score

Status

Chromosome

Chromosomal Location

72814599-73353540 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73131989 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 84 (S84G)

Ref Sequence

ENSEMBL: ENSMUSP00000148336 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004497] [ENSMUST00000119826] [ENSMUST00000212459]

Predicted Effect

probably benign
Transcript: ENSMUST00000004497
AA Change: S84G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000004497
Gene: ENSMUSG00000004383
AA Change: S84G

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
coiled coil region	55	90	N/A	INTRINSIC
Pfam:Glyco_transf_8	141	387	6.2e-22	PFAM
Pfam:Glyco_transf_49	473	540	5.2e-15	PFAM
Pfam:Glyco_transf_49	535	743	1.1e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119826
AA Change: S84G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000112617
Gene: ENSMUSG00000004383
AA Change: S84G

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
coiled coil region	55	90	N/A	INTRINSIC
Pfam:Glyco_transf_8	142	386	3e-23	PFAM
Pfam:Glyco_transf_49	473	540	2.3e-11	PFAM
Pfam:Glyco_transf_49	520	743	2.7e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000212459
AA Change: S84G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, which is one of the largest in the human genome, encodes a member of the N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. It may also be involved in the addition of a repeated disaccharide unit. Mutations in this gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in two transcript variants that encode the same protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes exhibit a progressive myopathy, abnormal posture, thoracic kyphosis, calcium deposits in muscle, loss of Schwann cells and myelin, eye and CNS defects, deafness, reduced growth, and death around 4 months. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
Adgrl3	T	A	5: 81,560,893	I409N	probably benign	Het
Akap13	A	G	7: 75,569,936	D29G	probably damaging	Het
Ap4e1	C	A	2: 127,043,445	T322K	probably damaging	Het
Arfgef1	G	A	1: 10,198,982		probably benign	Het
Asic5	A	G	3: 82,008,588	T282A	probably benign	Het
Bptf	T	C	11: 107,080,727	T985A	probably damaging	Het
Btnl9	A	G	11: 49,175,691	F349L	probably damaging	Het
Bves	T	A	10: 45,353,859	I253K	probably damaging	Het
Cars	T	A	7: 143,569,849	Y455F	probably benign	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Cuedc2	C	A	19: 46,332,649	V15F	probably damaging	Het
Defa22	T	A	8: 21,163,037		probably null	Het
Fat1	G	A	8: 45,023,949	A2011T	probably damaging	Het
Fyb2	C	T	4: 104,999,386	T533I	probably benign	Het
Gm1043	T	C	5: 37,187,089	L182P	probably damaging	Het
Ice1	A	T	13: 70,604,082	V1295E	possibly damaging	Het
Il12b	T	A	11: 44,404,088	S18T	probably benign	Het
Iqcg	A	G	16: 33,040,875	V157A	probably damaging	Het
Itgax	T	A	7: 128,145,035	M937K	probably benign	Het
Lrp1b	T	C	2: 41,770,935	T54A	probably benign	Het
Mfn1	A	G	3: 32,542,836	M148V	probably damaging	Het
Mobp	C	A	9: 120,168,234	T73K	probably benign	Het
Ms4a3	T	C	19: 11,629,655		probably benign	Het
Muc5ac	C	T	7: 141,806,943		probably benign	Het
Mzt2	A	C	16: 15,862,410	S104A	possibly damaging	Het
Naa16	T	A	14: 79,384,715	K27N	probably damaging	Het
Nos1	T	A	5: 117,945,926	I1267N	probably damaging	Het
Olfr16	T	A	1: 172,956,924	I43N	probably benign	Het
Rara	A	G	11: 98,968,184	E153G	possibly damaging	Het
Scn2a	T	G	2: 65,717,748	S66A	probably damaging	Het
Slc6a1	A	T	6: 114,314,465		probably null	Het
Sorbs3	A	G	14: 70,199,341	V136A	probably damaging	Het
Spink5	T	A	18: 43,981,147	H143Q	probably benign	Het
Susd2	G	A	10: 75,640,892	T99I	possibly damaging	Het
T	C	T	17: 8,441,745		probably null	Het
Tac2	G	A	10: 127,726,134		probably null	Het
Tfap4	G	T	16: 4,547,359	P180T	probably damaging	Het
Trap1	G	A	16: 4,043,978	Q641*	probably null	Het
Unc119	A	G	11: 78,348,609	N252S	probably damaging	Het

Other mutations in Large1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Large1	APN	8	72837497	missense	probably damaging	1.00
IGL00326:Large1	APN	8	73131983	missense	probably benign
IGL00418:Large1	APN	8	72823841	critical splice acceptor site	probably null
IGL01793:Large1	APN	8	72859181	splice site	probably benign
IGL01929:Large1	APN	8	72859275	missense	probably damaging	1.00
IGL02218:Large1	APN	8	72912122	missense	probably damaging	1.00
IGL02276:Large1	APN	8	72818093	missense	probably benign	0.00
IGL02329:Large1	APN	8	73048317	missense	possibly damaging	0.80
IGL02543:Large1	APN	8	73048414	missense	probably benign	0.00
IGL02887:Large1	APN	8	73132039	missense	probably benign	0.07
biggs	UTSW	8	73116419	missense	probably damaging	1.00
umber	UTSW	8	72883264	nonsense	probably null
R0179:Large1	UTSW	8	73098846	missense	probably benign	0.09
R0477:Large1	UTSW	8	72818082	missense	probably damaging	1.00
R0587:Large1	UTSW	8	72859333	missense	probably damaging	1.00
R0791:Large1	UTSW	8	73048479	splice site	probably benign
R1253:Large1	UTSW	8	73048422	missense	probably damaging	0.98
R1695:Large1	UTSW	8	72818082	missense	probably damaging	1.00
R2017:Large1	UTSW	8	72852197	missense	probably damaging	1.00
R4835:Large1	UTSW	8	73048347	missense	probably damaging	1.00
R5105:Large1	UTSW	8	72852244	nonsense	probably null
R5120:Large1	UTSW	8	72859341	missense	probably damaging	1.00
R5135:Large1	UTSW	8	72818096	missense	probably benign	0.38
R5137:Large1	UTSW	8	73048309	missense	possibly damaging	0.58
R5567:Large1	UTSW	8	72837453	missense	possibly damaging	0.93
R5945:Large1	UTSW	8	72852200	missense	probably damaging	0.99
R6619:Large1	UTSW	8	72883264	nonsense	probably null
R6951:Large1	UTSW	8	73116419	missense	probably damaging	1.00
R7041:Large1	UTSW	8	73116464	missense	probably damaging	0.98
R7300:Large1	UTSW	8	72837596	missense	probably damaging	1.00
R7493:Large1	UTSW	8	72823715	missense	probably benign	0.23
R7877:Large1	UTSW	8	73116443	missense	probably damaging	1.00
R8118:Large1	UTSW	8	73131944	missense	probably benign	0.40
R8129:Large1	UTSW	8	72815957	missense	probably damaging	1.00
R8525:Large1	UTSW	8	72837492	missense	probably damaging	1.00
Z1088:Large1	UTSW	8	72912103	nonsense	probably null

Posted On

2013-06-21