Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00418:Large1'

5017

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

Essential gene?

Possibly essential (E-score: 0.647) question?

Stock #

IGL00418

Quality Score

Status

Chromosome

Chromosomal Location

72814599-73353540 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 72823841 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148336 (fasta)

Gene Model

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

AlphaFold

Q9Z1M7

Predicted Effect

probably null
Transcript: ENSMUST00000004497

SMART Domains

Protein: ENSMUSP00000004497
Gene: ENSMUSG00000004383

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 null
Transcript: ENSMUST00000119826

SMART Domains

Protein: ENSMUSP00000112617
Gene: ENSMUSG00000004383

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 null
Transcript: ENSMUST00000212459

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	G	12: 55,048,963	I238T	probably damaging	Het
Akap4	T	C	X: 7,076,490	V344A	possibly damaging	Het
Apex2	T	C	X: 150,572,052	K430E	probably benign	Het
Aqp9	C	T	9: 71,132,731	A90T	probably damaging	Het
Asb15	T	A	6: 24,558,643		probably benign	Het
Barhl2	C	T	5: 106,455,499	A265T	possibly damaging	Het
Bspry	G	T	4: 62,496,105	D312Y	probably benign	Het
Cdh16	G	A	8: 104,623,413	R5W	probably benign	Het
Ciz1	C	T	2: 32,372,388	R461C	probably damaging	Het
Cldn14	T	A	16: 93,919,301	D219V	probably benign	Het
Clpb	A	T	7: 101,787,745	T706S	probably benign	Het
Cyp2d11	A	T	15: 82,392,468	M90K	probably benign	Het
Cyp2j8	T	A	4: 96,444,616	I498F	possibly damaging	Het
Dnah2	A	G	11: 69,495,066		probably benign	Het
Dpyd	T	A	3: 118,944,242	F477L	probably damaging	Het
Dscaml1	C	A	9: 45,670,200	S439*	probably null	Het
Faxc	A	G	4: 21,958,490	K216E	possibly damaging	Het
Fmo1	C	T	1: 162,836,246	R238Q	probably damaging	Het
Gm14399	G	A	2: 175,131,522	R147*	probably null	Het
H2-Ab1	G	A	17: 34,267,575	V203M	probably damaging	Het
Heatr5b	T	C	17: 78,753,141	E2035G	probably damaging	Het
Hip1	A	G	5: 135,426,346	I786T	probably damaging	Het
Homer1	T	C	13: 93,387,688		probably benign	Het
Igkv9-120	A	G	6: 68,049,987	D2G	possibly damaging	Het
Irgm1	A	T	11: 48,866,005	Y326*	probably null	Het
Kctd19	A	T	8: 105,388,463		probably null	Het
Mzf1	G	A	7: 13,044,616	A287V	possibly damaging	Het
Nes	A	T	3: 87,976,254	K607*	probably null	Het
Pars2	T	A	4: 106,654,050	V307E	probably damaging	Het
Pcsk5	T	A	19: 17,511,421	I1012F	possibly damaging	Het
Pole	T	C	5: 110,303,565		probably benign	Het
Rbm14	T	C	19: 4,802,548		probably benign	Het
Scn2a	A	T	2: 65,764,522	Q1905L	probably benign	Het
Slc26a2	A	G	18: 61,198,740	F540L	probably benign	Het
Slco2a1	T	C	9: 103,079,441		probably benign	Het
Tas2r106	T	C	6: 131,677,959		probably null	Het
Tmem175	T	A	5: 108,645,866	D287E	probably benign	Het
Trappc12	T	C	12: 28,737,836	K416R	probably damaging	Het
Trim2	A	G	3: 84,208,289	L86P	probably damaging	Het
Vps13c	T	A	9: 67,876,262	N240K	probably damaging	Het
Wdr90	A	C	17: 25,849,364	I1330S	probably damaging	Het
Wfdc6a	A	G	2: 164,584,994		probably null	Het
Zc3h12c	C	T	9: 52,116,665	V466M	probably damaging	Het
Zswim8	A	G	14: 20,718,475	T1025A	probably damaging	Het

Other mutations in Large1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Large1	APN	8	72,837,497 (GRCm38)	missense	probably damaging	1.00
IGL00326:Large1	APN	8	73,131,983 (GRCm38)	missense	probably benign
IGL01155:Large1	APN	8	73,131,989 (GRCm38)	missense	probably benign	0.01
IGL01793:Large1	APN	8	72,859,181 (GRCm38)	splice site	probably benign
IGL01929:Large1	APN	8	72,859,275 (GRCm38)	missense	probably damaging	1.00
IGL02218:Large1	APN	8	72,912,122 (GRCm38)	missense	probably damaging	1.00
IGL02276:Large1	APN	8	72,818,093 (GRCm38)	missense	probably benign	0.00
IGL02329:Large1	APN	8	73,048,317 (GRCm38)	missense	possibly damaging	0.80
IGL02543:Large1	APN	8	73,048,414 (GRCm38)	missense	probably benign	0.00
IGL02887:Large1	APN	8	73,132,039 (GRCm38)	missense	probably benign	0.07
biggs	UTSW	8	73,116,419 (GRCm38)	missense	probably damaging	1.00
umber	UTSW	8	72,883,264 (GRCm38)	nonsense	probably null
R0179:Large1	UTSW	8	73,098,846 (GRCm38)	missense	probably benign	0.09
R0477:Large1	UTSW	8	72,818,082 (GRCm38)	missense	probably damaging	1.00
R0587:Large1	UTSW	8	72,859,333 (GRCm38)	missense	probably damaging	1.00
R0791:Large1	UTSW	8	73,048,479 (GRCm38)	splice site	probably benign
R1253:Large1	UTSW	8	73,048,422 (GRCm38)	missense	probably damaging	0.98
R1695:Large1	UTSW	8	72,818,082 (GRCm38)	missense	probably damaging	1.00
R2017:Large1	UTSW	8	72,852,197 (GRCm38)	missense	probably damaging	1.00
R4835:Large1	UTSW	8	73,048,347 (GRCm38)	missense	probably damaging	1.00
R5105:Large1	UTSW	8	72,852,244 (GRCm38)	nonsense	probably null
R5120:Large1	UTSW	8	72,859,341 (GRCm38)	missense	probably damaging	1.00
R5135:Large1	UTSW	8	72,818,096 (GRCm38)	missense	probably benign	0.38
R5137:Large1	UTSW	8	73,048,309 (GRCm38)	missense	possibly damaging	0.58
R5567:Large1	UTSW	8	72,837,453 (GRCm38)	missense	possibly damaging	0.93
R5945:Large1	UTSW	8	72,852,200 (GRCm38)	missense	probably damaging	0.99
R6619:Large1	UTSW	8	72,883,264 (GRCm38)	nonsense	probably null
R6951:Large1	UTSW	8	73,116,419 (GRCm38)	missense	probably damaging	1.00
R7041:Large1	UTSW	8	73,116,464 (GRCm38)	missense	probably damaging	0.98
R7300:Large1	UTSW	8	72,837,596 (GRCm38)	missense	probably damaging	1.00
R7493:Large1	UTSW	8	72,823,715 (GRCm38)	missense	probably benign	0.23
R7877:Large1	UTSW	8	73,116,443 (GRCm38)	missense	probably damaging	1.00
R8118:Large1	UTSW	8	73,131,944 (GRCm38)	missense	probably benign	0.40
R8129:Large1	UTSW	8	72,815,957 (GRCm38)	missense	probably damaging	1.00
R8525:Large1	UTSW	8	72,837,492 (GRCm38)	missense	probably damaging	1.00
R8963:Large1	UTSW	8	72,815,984 (GRCm38)	missense	probably damaging	1.00
R9170:Large1	UTSW	8	72,816,017 (GRCm38)	missense	probably benign	0.00
R9653:Large1	UTSW	8	72,837,478 (GRCm38)	missense	probably benign
Z1088:Large1	UTSW	8	72,912,103 (GRCm38)	nonsense	probably null

Posted On

2012-04-20