Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01764:Large2'

153649

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Large2

Ensembl Gene

ENSMUSG00000040434

Gene Name

LARGE xylosyl- and glucuronyltransferase 2

Synonyms

5730485C17Rik, Gyltl1b

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01764

Quality Score

Status

Chromosome

Chromosomal Location

92195391-92201437 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 92197531 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135024 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044036] [ENSMUST00000068586] [ENSMUST00000068702] [ENSMUST00000090582] [ENSMUST00000090586] [ENSMUST00000111284] [ENSMUST00000111290] [ENSMUST00000176810] [ENSMUST00000148352] [ENSMUST00000176774] [ENSMUST00000176289] [ENSMUST00000176339] [ENSMUST00000111297]

AlphaFold

Q5XPT3

Predicted Effect

probably benign
Transcript: ENSMUST00000044036

SMART Domains

Protein: ENSMUSP00000038497
Gene: ENSMUSG00000058318

Domain	Start	End	E-Value	Type
coiled coil region	29	62	N/A	INTRINSIC
low complexity region	85	129	N/A	INTRINSIC
low complexity region	165	186	N/A	INTRINSIC
AT_hook	350	362	4.28e-1	SMART
low complexity region	369	381	N/A	INTRINSIC
PHD	415	458	3.12e-15	SMART
RING	416	457	1.85e-1	SMART
coiled coil region	482	527	N/A	INTRINSIC
low complexity region	575	595	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000068586

SMART Domains

Protein: ENSMUSP00000064128
Gene: ENSMUSG00000040434

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	52	63	N/A	INTRINSIC
Pfam:Glyco_transf_8	70	316	4.6e-22	PFAM
low complexity region	392	401	N/A	INTRINSIC
Pfam:Glyco_transf_49	402	469	2.2e-11	PFAM
Pfam:Glyco_transf_49	466	673	1e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000068702

SMART Domains

Protein: ENSMUSP00000070649
Gene: ENSMUSG00000058318

Domain	Start	End	E-Value	Type
coiled coil region	29	62	N/A	INTRINSIC
low complexity region	85	128	N/A	INTRINSIC
low complexity region	164	185	N/A	INTRINSIC
PHD	367	410	3.12e-15	SMART
RING	368	409	1.85e-1	SMART
coiled coil region	434	479	N/A	INTRINSIC
low complexity region	527	547	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000090582

SMART Domains

Protein: ENSMUSP00000088070
Gene: ENSMUSG00000040434

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	52	63	N/A	INTRINSIC
Pfam:Glyco_transf_8	70	218	7.2e-9	PFAM
Pfam:Glyco_transf_8	188	281	2.3e-8	PFAM
low complexity region	357	366	N/A	INTRINSIC
Pfam:Glyco_transf_49	367	434	2.1e-11	PFAM
Pfam:Glyco_transf_49	431	638	9.3e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000090586

SMART Domains

Protein: ENSMUSP00000088074
Gene: ENSMUSG00000058318

Domain	Start	End	E-Value	Type
coiled coil region	29	62	N/A	INTRINSIC
low complexity region	85	128	N/A	INTRINSIC
low complexity region	249	270	N/A	INTRINSIC
AT_hook	434	446	4.28e-1	SMART
low complexity region	453	465	N/A	INTRINSIC
PHD	499	542	3.12e-15	SMART
RING	500	541	1.85e-1	SMART
coiled coil region	566	611	N/A	INTRINSIC
low complexity region	659	679	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111284

SMART Domains

Protein: ENSMUSP00000106915
Gene: ENSMUSG00000040434

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	77	88	N/A	INTRINSIC
Pfam:Glyco_transf_8	97	341	8.9e-22	PFAM
low complexity region	417	426	N/A	INTRINSIC
Pfam:Glyco_transf_49	427	494	6.5e-11	PFAM
Pfam:Glyco_transf_49	491	698	3.1e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111290

SMART Domains

Protein: ENSMUSP00000106921
Gene: ENSMUSG00000058318

Domain	Start	End	E-Value	Type
coiled coil region	29	62	N/A	INTRINSIC
low complexity region	85	128	N/A	INTRINSIC
low complexity region	249	270	N/A	INTRINSIC
AT_hook	405	417	4.28e-1	SMART
low complexity region	424	436	N/A	INTRINSIC
PHD	470	513	3.12e-15	SMART
RING	471	512	1.85e-1	SMART
coiled coil region	537	582	N/A	INTRINSIC
low complexity region	630	650	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176810

SMART Domains

Protein: ENSMUSP00000135024
Gene: ENSMUSG00000040434

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	77	88	N/A	INTRINSIC
Pfam:Glyco_transf_8	101	342	4.2e-20	PFAM
low complexity region	417	426	N/A	INTRINSIC
Pfam:Glyco_transf_49	427	493	1.3e-13	PFAM
Pfam:Glyco_transf_49	489	698	2.8e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148352

SMART Domains

Protein: ENSMUSP00000135451
Gene: ENSMUSG00000040434

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	52	63	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176646

Predicted Effect

probably benign
Transcript: ENSMUST00000176774

SMART Domains

Protein: ENSMUSP00000135400
Gene: ENSMUSG00000040434

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	52	63	N/A	INTRINSIC
Pfam:Glyco_transf_8	71	317	3.9e-22	PFAM
low complexity region	393	402	N/A	INTRINSIC
Pfam:Glyco_transf_49	403	470	1.6e-11	PFAM
Pfam:Glyco_transf_49	467	674	7.4e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176289

SMART Domains

Protein: ENSMUSP00000135118
Gene: ENSMUSG00000040434

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	52	63	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124428

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175740

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176820

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176402

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175851

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130283

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146311

Predicted Effect

probably benign
Transcript: ENSMUST00000176339

SMART Domains

Protein: ENSMUSP00000135619
Gene: ENSMUSG00000040434

Domain	Start	End	E-Value	Type
transmembrane domain	31	50	N/A	INTRINSIC
low complexity region	74	85	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111297

SMART Domains

Protein: ENSMUSP00000106928
Gene: ENSMUSG00000058318

Domain	Start	End	E-Value	Type
coiled coil region	29	62	N/A	INTRINSIC
low complexity region	85	129	N/A	INTRINSIC
low complexity region	248	269	N/A	INTRINSIC
PHD	422	465	3.12e-15	SMART
RING	423	464	1.85e-1	SMART
coiled coil region	489	534	N/A	INTRINSIC
low complexity region	582	602	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177273

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Null mutant mice are healthy and are indistinguishable from control littermates with respect to body weight and life span when aged up to one year. No increased spontaneous tumor load was observed. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	T	10: 86,909,910 (GRCm39)	M1L	probably benign	Het
BC025920	T	A	10: 81,444,984 (GRCm39)	Y36N	probably damaging	Het
Cdk11b	G	A	4: 155,713,260 (GRCm39)	R112H	possibly damaging	Het
Ctu2	G	A	8: 123,206,161 (GRCm39)		probably benign	Het
Ddx56	A	C	11: 6,215,692 (GRCm39)	V219G	probably null	Het
Dnah14	T	C	1: 181,572,342 (GRCm39)	V2891A	probably benign	Het
Fbn2	G	T	18: 58,178,423 (GRCm39)	N1938K	probably damaging	Het
Fbxw20	A	G	9: 109,052,427 (GRCm39)	M302T	possibly damaging	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Gpat2	T	C	2: 127,269,456 (GRCm39)	I36T	probably benign	Het
Gsta5	A	T	9: 78,211,789 (GRCm39)		probably null	Het
Hmcn2	A	G	2: 31,295,642 (GRCm39)	E2617G	possibly damaging	Het
Hrob	T	C	11: 102,146,422 (GRCm39)	C233R	probably benign	Het
Krba1	C	T	6: 48,392,770 (GRCm39)	R895W	probably benign	Het
Lrp1b	C	T	2: 40,587,454 (GRCm39)	V165M	unknown	Het
Mapk1	T	A	16: 16,801,597 (GRCm39)	M36K	possibly damaging	Het
Nf1	A	G	11: 79,275,013 (GRCm39)	T25A	probably benign	Het
Nrxn3	G	A	12: 90,171,524 (GRCm39)	V1316I	possibly damaging	Het
Pik3r4	G	A	9: 105,562,321 (GRCm39)		probably benign	Het
Plekhh1	G	T	12: 79,101,679 (GRCm39)	A250S	probably benign	Het
Polr3g	G	A	13: 81,830,238 (GRCm39)	T145M	possibly damaging	Het
Prss32	A	G	17: 24,075,085 (GRCm39)	D145G	probably damaging	Het
Rab11fip3	T	C	17: 26,287,667 (GRCm39)	K162R	probably benign	Het
Spag7	A	G	11: 70,554,933 (GRCm39)		probably benign	Het
Spata2l	T	A	8: 123,960,914 (GRCm39)	Q125L	probably benign	Het
Tlr9	G	T	9: 106,103,004 (GRCm39)	C765F	probably damaging	Het
Trip11	A	T	12: 101,850,890 (GRCm39)	I773N	probably damaging	Het
Vcan	T	G	13: 89,873,507 (GRCm39)	T116P	probably damaging	Het
Vmn2r22	C	T	6: 123,627,379 (GRCm39)		probably null	Het
Yme1l1	T	C	2: 23,052,556 (GRCm39)	I70T	probably benign	Het
Zfp938	T	A	10: 82,063,624 (GRCm39)		probably benign	Het

Other mutations in Large2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01143:Large2	APN	2	92,196,684 (GRCm39)	missense	probably damaging	1.00
IGL01152:Large2	APN	2	92,200,984 (GRCm39)	missense	probably damaging	1.00
IGL01377:Large2	APN	2	92,199,676 (GRCm39)	missense	probably damaging	1.00
IGL02016:Large2	APN	2	92,199,888 (GRCm39)	missense	possibly damaging	0.82
IGL02396:Large2	APN	2	92,196,668 (GRCm39)	nonsense	probably null
IGL02996:Large2	APN	2	92,196,273 (GRCm39)	missense	possibly damaging	0.88
IGL03011:Large2	APN	2	92,197,927 (GRCm39)	missense	probably damaging	1.00
egged	UTSW	2	92,200,853 (GRCm39)	intron	probably benign
P0041:Large2	UTSW	2	92,197,599 (GRCm39)	splice site	probably benign
R1915:Large2	UTSW	2	92,196,170 (GRCm39)	splice site	probably benign
R4193:Large2	UTSW	2	92,195,704 (GRCm39)	missense	probably damaging	1.00
R4239:Large2	UTSW	2	92,196,950 (GRCm39)	splice site	probably benign
R4580:Large2	UTSW	2	92,200,957 (GRCm39)	missense	possibly damaging	0.66
R4679:Large2	UTSW	2	92,197,903 (GRCm39)	missense	probably benign	0.31
R4857:Large2	UTSW	2	92,196,979 (GRCm39)	intron	probably benign
R4918:Large2	UTSW	2	92,196,452 (GRCm39)	intron	probably benign
R5050:Large2	UTSW	2	92,198,124 (GRCm39)	missense	probably benign	0.05
R5237:Large2	UTSW	2	92,197,487 (GRCm39)	missense	probably benign	0.16
R5264:Large2	UTSW	2	92,205,088 (GRCm39)	unclassified	probably benign
R5508:Large2	UTSW	2	92,200,248 (GRCm39)	missense	possibly damaging	0.80
R5999:Large2	UTSW	2	92,196,403 (GRCm39)	missense	probably benign	0.01
R6077:Large2	UTSW	2	92,196,915 (GRCm39)	missense	probably benign	0.00
R6167:Large2	UTSW	2	92,197,433 (GRCm39)	missense	probably benign	0.44
R6218:Large2	UTSW	2	92,200,981 (GRCm39)	missense	probably damaging	0.99
R6225:Large2	UTSW	2	92,196,825 (GRCm39)	missense	probably damaging	1.00
R6301:Large2	UTSW	2	92,199,861 (GRCm39)	missense	probably damaging	1.00
R6376:Large2	UTSW	2	92,200,853 (GRCm39)	intron	probably benign
R6485:Large2	UTSW	2	92,196,373 (GRCm39)	missense	probably benign
R6727:Large2	UTSW	2	92,201,215 (GRCm39)	utr 5 prime	probably benign
R6942:Large2	UTSW	2	92,201,167 (GRCm39)	missense	probably damaging	0.99
R7051:Large2	UTSW	2	92,197,367 (GRCm39)	missense	probably damaging	0.97
R7318:Large2	UTSW	2	92,196,373 (GRCm39)	missense	probably benign
R7581:Large2	UTSW	2	92,200,538 (GRCm39)	missense	probably damaging	1.00
R7640:Large2	UTSW	2	92,205,050 (GRCm39)	start codon destroyed	probably null
R9522:Large2	UTSW	2	92,200,266 (GRCm39)	missense	probably damaging	1.00
Z1176:Large2	UTSW	2	92,200,543 (GRCm39)	missense	probably benign	0.00

Posted On

2014-02-04