Mutagenetix > Incidental Mutations

Incidental Mutation 'R8963:Large1'

682493

Institutional Source

Beutler Lab

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: 0.588) question?

Stock #

R8963 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72814599-73353540 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72815984 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 704 (I704N)

Ref Sequence

ENSEMBL: ENSMUSP00000148336 (fasta)

Gene Model

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

AlphaFold

Q9Z1M7

Predicted Effect

probably damaging
Transcript: ENSMUST00000004497
AA Change: I704N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000004497
Gene: ENSMUSG00000004383
AA Change: I704N

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 damaging
Transcript: ENSMUST00000119826
AA Change: I704N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000112617
Gene: ENSMUSG00000004383
AA Change: I704N

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 damaging
Transcript: ENSMUST00000212459
AA Change: I704N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	T	A	5: 9,437,792	N559K	probably damaging	Het
Aatk	T	C	11: 120,012,137	T421A	probably damaging	Het
Adamts12	T	C	15: 11,317,357		probably null	Het
Adgrv1	A	T	13: 81,419,469	V5195E	probably benign	Het
Adora2b	C	T	11: 62,249,157	A19V	possibly damaging	Het
Ankrd28	A	G	14: 31,755,741	C115R	probably benign	Het
Ankrd35	T	A	3: 96,679,687	L106*	probably null	Het
Ankrd44	G	A	1: 54,762,379	A263V	probably damaging	Het
Apol7b	T	C	15: 77,423,920	K125R	possibly damaging	Het
BC005561	T	C	5: 104,517,786	V58A	probably benign	Het
Cacna1c	A	T	6: 118,742,271	L245*	probably null	Het
Cbll1	A	T	12: 31,488,200	H185Q	probably damaging	Het
Ccdc150	A	C	1: 54,272,482	N209T	probably benign	Het
Ccdc88a	T	A	11: 29,498,416	N1465K	possibly damaging	Het
Cfap54	C	A	10: 93,028,700	G124*	probably null	Het
Chml	A	T	1: 175,687,035	L440H	probably damaging	Het
Chrnd	A	T	1: 87,194,881	Q128L	probably damaging	Het
Clvs2	A	T	10: 33,622,681	D84E	probably benign	Het
Ctif	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	18: 75,471,803		probably benign	Het
Cyp2c40	T	A	19: 39,767,482	I463F	possibly damaging	Het
Cyp51	C	A	5: 4,086,519	R425L	probably damaging	Het
Daam1	A	G	12: 71,945,244	T279A	unknown	Het
Ebf2	G	T	14: 67,428,105	V571F	probably benign	Het
Elavl4	A	T	4: 110,206,579	I275N	probably damaging	Het
F11r	A	G	1: 171,460,937	Q116R	probably benign	Het
Foxred2	T	A	15: 77,945,605	D580V	probably benign	Het
Gatad1	A	C	5: 3,641,544	L4R	probably damaging	Het
Gcn1l1	T	A	5: 115,589,094	M670K	probably benign	Het
Greb1	A	T	12: 16,724,884	F171I	probably damaging	Het
Grin2b	A	G	6: 136,044,009	V98A	probably damaging	Het
Helz2	A	T	2: 181,229,614	V2735E	probably damaging	Het
Hrct1	A	T	4: 43,727,564		probably benign	Het
Ighv1-11	C	T	12: 114,612,244	R117K	probably damaging	Het
Igkv12-46	A	T	6: 69,764,770	S34T	probably damaging	Het
Il27ra	T	A	8: 84,041,082	N71Y	probably damaging	Het
Iqca	G	T	1: 90,139,927	H201N	probably benign	Het
Itgb1bp1	C	T	12: 21,274,863	R64Q	probably damaging	Het
Katnb1	T	C	8: 95,082,891	L13S	probably damaging	Het
Kif26b	G	A	1: 178,916,149	R1270Q	probably benign	Het
Klhdc2	A	T	12: 69,300,291	R77*	probably null	Het
Klra10	A	T	6: 130,272,654		probably null	Het
Lrp1b	G	A	2: 40,998,184	H2241Y	probably benign	Het
Lrpap1	T	A	5: 35,097,657	M212L	probably benign	Het
Mab21l1	A	G	3: 55,782,927		probably benign	Het
Map4k4	A	T	1: 40,000,580	Q44L	probably damaging	Het
Map7d1	A	G	4: 126,236,682	S412P	probably damaging	Het
Me1	A	T	9: 86,598,791	F354I	probably damaging	Het
Nlrp1b	A	G	11: 71,217,832	V281A	probably damaging	Het
Nrip2	A	G	6: 128,408,325	T240A	possibly damaging	Het
Nsmaf	A	G	4: 6,428,471	V203A	probably damaging	Het
Olfr1120	T	A	2: 87,357,606	I54K	possibly damaging	Het
Olfr1284	A	T	2: 111,379,300	Q100L	probably damaging	Het
Olfr229	A	G	9: 39,910,199	Y132C	probably damaging	Het
Olfr722	A	T	14: 49,895,052	M250K	probably benign	Het
P4ha2	T	C	11: 54,114,169	F124L	probably benign	Het
Pcdha9	A	T	18: 36,998,697	D273V	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Plxnd1	G	T	6: 115,972,545	S760*	probably null	Het
Polr1b	A	G	2: 129,115,656	T544A	probably benign	Het
Polr2g	T	C	19: 8,794,149	D153G	probably damaging	Het
Pramef8	T	C	4: 143,417,659	Y192H	probably benign	Het
Rad51ap2	A	C	12: 11,456,254	E59A	possibly damaging	Het
Rrm1	A	T	7: 102,456,532	Y285F	probably benign	Het
Ryr3	A	G	2: 112,836,670		probably null	Het
Scaf4	GGCTGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTGCTG	16: 90,229,857		probably benign	Het
Sftpd	A	G	14: 41,183,044	V30A	probably benign	Het
Sirt6	A	G	10: 81,626,544	V7A	probably benign	Het
Ska1	C	T	18: 74,197,568	V188M	probably damaging	Het
Skint8	G	A	4: 111,937,044	M210I	probably benign	Het
Slc6a11	A	G	6: 114,225,821		probably null	Het
Slc6a2	A	T	8: 92,989,074	H280L	probably benign	Het
Sptan1	T	C	2: 29,983,732	V208A	possibly damaging	Het
Taf6l	T	A	19: 8,774,771	T518S	probably benign	Het
Tsc22d1	T	C	14: 76,418,826	M59T	probably benign	Het
Unc5cl	A	G	17: 48,462,333	T282A	probably benign	Het
Vav3	A	G	3: 109,682,913	K260E	probably damaging	Het
Vmn2r53	A	G	7: 12,581,999	V631A	probably damaging	Het
Zfp938	A	T	10: 82,225,453	F444L	possibly 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
IGL01155:Large1	APN	8	73131989	missense	probably benign	0.01
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
R9170:Large1	UTSW	8	72816017	missense	probably benign	0.00
Z1088:Large1	UTSW	8	72912103	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTTTTGTCTTCAAAGGCTGGGC -3'
(R):5'- ACCCTGAAGCGAGTTATTCTG -3'

Sequencing Primer
(F):5'- CCTAGTGGTGGCTCTCCCTAGTAG -3'
(R):5'- AAGCGAGTTATTCTGGAGCTATTG -3'

Posted On

2021-08-31