Mutagenetix > Incidental Mutation

Incidental Mutation 'R7051:Large2'

547560

Institutional Source

Beutler Lab

Gene Symbol

Large2

Ensembl Gene

ENSMUSG00000040434

Gene Name

LARGE xylosyl- and glucuronyltransferase 2

Synonyms

5730485C17Rik, Gyltl1b

MMRRC Submission

045148-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7051 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92195391-92201437 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 92197367 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 411 (M411K)

Ref Sequence

ENSEMBL: ENSMUSP00000064128 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000068586
AA Change: M411K

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000064128
Gene: ENSMUSG00000040434
AA Change: M411K

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 damaging
Transcript: ENSMUST00000090582
AA Change: M376K

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000088070
Gene: ENSMUSG00000040434
AA Change: M376K

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
AA Change: M436K

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000106915
Gene: ENSMUSG00000040434
AA Change: M436K

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: 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

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

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

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

possibly damaging
Transcript: ENSMUST00000176774
AA Change: M412K

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135400
Gene: ENSMUSG00000040434
AA Change: M412K

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: ENSMUST00000176810
AA Change: M436K

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000135024
Gene: ENSMUSG00000040434
AA Change: M436K

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

Meta Mutation Damage Score

0.3187

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

95% (80/84)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5930422O12Rik	C	T	8: 33,919,201 (GRCm39)	S7L	unknown	Het
Aggf1	T	C	13: 95,488,125 (GRCm39)	K674R	possibly damaging	Het
Ampd1	T	C	3: 102,997,389 (GRCm39)	F264L	probably damaging	Het
Ankle1	A	T	8: 71,860,387 (GRCm39)	S302C	probably damaging	Het
Ankrd17	G	A	5: 90,514,310 (GRCm39)		probably benign	Het
Arhgap18	T	A	10: 26,725,917 (GRCm39)	N47K	possibly damaging	Het
Atp5pb	T	C	3: 105,851,083 (GRCm39)	N205D	probably benign	Het
Atp8b3	C	T	10: 80,355,858 (GRCm39)	E1285K	probably benign	Het
Atp8b3	C	A	10: 80,365,552 (GRCm39)	V401L	probably damaging	Het
Cacna1a	G	A	8: 85,356,544 (GRCm39)	R1929Q	possibly damaging	Het
Cadm2	C	T	16: 66,679,767 (GRCm39)	S22N	possibly damaging	Het
Ccdc177	C	T	12: 80,805,927 (GRCm39)	V116M	probably damaging	Het
Cdhr18	A	G	14: 13,828,486 (GRCm38)	V758A		Het
Cdkl2	A	T	5: 92,181,084 (GRCm39)	I185N	probably damaging	Het
Cfhr2	T	A	1: 139,738,716 (GRCm39)	I282L	probably benign	Het
Clns1a	T	A	7: 97,361,824 (GRCm39)		probably null	Het
Commd2	A	T	3: 57,554,107 (GRCm39)	I198N	probably damaging	Het
Creb3l2	C	T	6: 37,313,200 (GRCm39)	V365I	possibly damaging	Het
Dcaf6	A	T	1: 165,251,886 (GRCm39)	N79K	possibly damaging	Het
Dlg5	T	C	14: 24,196,263 (GRCm39)	N1622D	possibly damaging	Het
Dock7	C	T	4: 98,834,969 (GRCm39)	R1802H	probably damaging	Het
Dpy19l2	T	C	9: 24,495,789 (GRCm39)	K643R	probably benign	Het
Dscam	G	A	16: 96,620,986 (GRCm39)	T574M	probably benign	Het
Fam209	A	G	2: 172,315,969 (GRCm39)	T115A	probably damaging	Het
Fastkd5	C	T	2: 130,456,337 (GRCm39)	C751Y	probably damaging	Het
Fat3	C	A	9: 16,289,123 (GRCm39)	L133F	probably damaging	Het
Fcsk	A	T	8: 111,616,971 (GRCm39)	I393N	probably damaging	Het
Frmd6	T	C	12: 70,944,170 (GRCm39)	V516A	possibly damaging	Het
Fry	G	A	5: 150,318,634 (GRCm39)	D955N	possibly damaging	Het
Gm7298	T	C	6: 121,751,993 (GRCm39)		probably null	Het
Golga7b	T	A	19: 42,256,899 (GRCm39)	*168R	probably null	Het
Golim4	T	A	3: 75,800,309 (GRCm39)	Q395L	probably benign	Het
Gxylt2	T	A	6: 100,781,537 (GRCm39)	L404*	probably null	Het
H1f4	A	G	13: 23,806,422 (GRCm39)	V20A	probably benign	Het
Ighmbp2	G	T	19: 3,311,462 (GRCm39)	S984R	probably damaging	Het
Irf8	C	T	8: 121,466,581 (GRCm39)	R9W	probably damaging	Het
Itga4	T	C	2: 79,148,470 (GRCm39)	V788A	possibly damaging	Het
Kifap3	G	A	1: 163,621,649 (GRCm39)	R99H	probably damaging	Het
Kiss1r	T	C	10: 79,754,688 (GRCm39)	S61P	probably damaging	Het
Krtap6-1	A	T	16: 88,828,606 (GRCm39)	M1L	unknown	Het
Lcor	A	G	19: 41,574,191 (GRCm39)	D982G	probably benign	Het
Lingo1	A	G	9: 56,527,467 (GRCm39)	V374A	probably benign	Het
Lrch1	A	G	14: 75,022,962 (GRCm39)	V637A	probably damaging	Het
Lyar	T	C	5: 38,382,024 (GRCm39)	V2A	probably damaging	Het
Nell1	C	T	7: 50,098,592 (GRCm39)	S298L	unknown	Het
Ogfod3	T	A	11: 121,086,031 (GRCm39)	I188F	probably damaging	Het
Opa3	C	A	7: 18,978,961 (GRCm39)	A142E	possibly damaging	Het
Or5b123	T	A	19: 13,596,769 (GRCm39)	M81K	possibly damaging	Het
Or5k1	T	C	16: 58,617,538 (GRCm39)	T224A	probably benign	Het
Pald1	T	C	10: 61,159,125 (GRCm39)	R769G	probably benign	Het
Pappa2	T	A	1: 158,784,753 (GRCm39)	T86S	unknown	Het
Papss1	T	C	3: 131,307,811 (GRCm39)	Y266H	probably damaging	Het
Pcdhga7	C	A	18: 37,849,994 (GRCm39)	A667D	probably damaging	Het
Pcsk5	T	A	19: 17,411,095 (GRCm39)	T1766S	probably benign	Het
Pds5b	T	A	5: 150,717,747 (GRCm39)	N1129K	possibly damaging	Het
Pop7	T	C	5: 137,499,952 (GRCm39)	N127S	probably damaging	Het
Ppfibp2	A	G	7: 107,316,925 (GRCm39)	E300G	probably damaging	Het
Ppp4r3b	A	G	11: 29,132,507 (GRCm39)	K87E	probably damaging	Het
Psmd3	T	A	11: 98,573,659 (GRCm39)	M35K	possibly damaging	Het
Pus7	A	G	5: 23,980,677 (GRCm39)	V191A	probably damaging	Het
Rptor	C	T	11: 119,765,012 (GRCm39)		probably benign	Het
Sacs	A	G	14: 61,446,377 (GRCm39)	M2808V	probably benign	Het
Scube3	G	A	17: 28,386,573 (GRCm39)	V831I	probably benign	Het
Sin3a	A	T	9: 57,011,218 (GRCm39)	N492Y	probably damaging	Het
Slc12a3	A	G	8: 95,092,572 (GRCm39)	T998A	probably damaging	Het
Slc4a1	T	C	11: 102,247,084 (GRCm39)	N501S	probably benign	Het
Sltm	G	A	9: 70,466,348 (GRCm39)	G94R	probably damaging	Het
Smc4	T	A	3: 68,934,835 (GRCm39)	W650R	probably damaging	Het
Smg7	A	G	1: 152,724,601 (GRCm39)	S527P	probably damaging	Het
Tcf20	T	C	15: 82,740,279 (GRCm39)	N391D	probably damaging	Het
Tiam2	G	A	17: 3,498,758 (GRCm39)	V845M	probably damaging	Het
Tln2	A	G	9: 67,253,699 (GRCm39)	F793L	probably benign	Het
Uckl1	T	C	2: 181,216,037 (GRCm39)	I193V	probably damaging	Het
Ugt1a5	A	G	1: 88,094,077 (GRCm39)	M102V	probably benign	Het
Usp38	G	A	8: 81,727,750 (GRCm39)	P328S	possibly damaging	Het
Vmn1r189	A	G	13: 22,286,285 (GRCm39)	V184A	possibly damaging	Het
Vps13d	C	A	4: 144,889,914 (GRCm39)	A597S	probably benign	Het
Wdr47	T	A	3: 108,525,840 (GRCm39)	L121Q	probably damaging	Het
Wiz	A	G	17: 32,580,507 (GRCm39)	S315P	probably damaging	Het
Zc3h13	T	C	14: 75,568,597 (GRCm39)	S1297P	probably damaging	Het
Zfp27	AATCCGCTTGTGCA	AA	7: 29,594,446 (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
IGL01764:Large2	APN	2	92,197,531 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- AGTTAGCTGCTGAAAGGCTCC -3'
(R):5'- AACCCTGCTCAGTTGCAAC -3'

Sequencing Primer
(F):5'- GGGTGCATCTACATTTGACAACCG -3'
(R):5'- TGCTCAGTTGCAACAGGCC -3'

Posted On

2019-05-13