Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01066:B3glct'

51028

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

B3glct

Ensembl Gene

ENSMUSG00000051950

Gene Name

beta-3-glucosyltransferase

Synonyms

B3galtl, LOC381694

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.219) question?

Stock #

IGL01066

Quality Score

Status

Chromosome

Chromosomal Location

149601695-149686064 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 149632890 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 80 (T80I)

Ref Sequence

ENSEMBL: ENSMUSP00000097972 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100404]

AlphaFold

Q8BHT6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100404
AA Change: T80I

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097972
Gene: ENSMUSG00000051950
AA Change: T80I

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Fringe	93	216	7.4e-8	PFAM
Pfam:Fringe	253	470	1.8e-59	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a beta-1,3-glucosyltransferase that transfers glucose to O-linked fucosylglycans on thrombospondin type-1 repeats (TSRs) of several proteins. The encoded protein is a type II membrane protein. Defects in this gene are a cause of Peters-plus syndrome (PPS).[provided by RefSeq, Mar 2009]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,834,475 (GRCm39)	V124I	probably damaging	Het
2300003K06Rik	T	A	11: 99,728,454 (GRCm39)	R130*	probably null	Het
Abca12	T	A	1: 71,392,889 (GRCm39)	R117W	possibly damaging	Het
Agrn	A	G	4: 156,261,800 (GRCm39)	S497P	probably benign	Het
Alpk1	A	T	3: 127,473,874 (GRCm39)	S710T	probably benign	Het
Anapc4	T	A	5: 53,014,551 (GRCm39)	N471K	probably benign	Het
Ano3	A	T	2: 110,491,790 (GRCm39)	M879K	probably null	Het
Apoe	A	G	7: 19,430,525 (GRCm39)	L239P	probably damaging	Het
Ash1l	T	C	3: 88,891,942 (GRCm39)	Y1274H	probably damaging	Het
Ccdc146	T	C	5: 21,524,540 (GRCm39)	T271A	probably benign	Het
Chd8	T	A	14: 52,455,223 (GRCm39)	N1088I	probably damaging	Het
Csnk1g2	T	C	10: 80,470,481 (GRCm39)		probably benign	Het
Daxx	T	A	17: 34,132,867 (GRCm39)	V627D	probably benign	Het
Dnai7	C	T	6: 145,121,948 (GRCm39)	G624S	probably damaging	Het
Dpy19l3	A	G	7: 35,392,192 (GRCm39)		probably benign	Het
Enc1	A	G	13: 97,381,822 (GRCm39)	I111V	probably benign	Het
Ep400	A	G	5: 110,816,065 (GRCm39)		probably benign	Het
Fig4	T	C	10: 41,161,413 (GRCm39)		probably benign	Het
Fkbp7	A	T	2: 76,503,252 (GRCm39)	L36*	probably null	Het
Fxn	A	T	19: 24,244,662 (GRCm39)		probably benign	Het
Gm10152	C	T	7: 144,316,993 (GRCm39)	P16L	unknown	Het
Hivep2	T	C	10: 14,024,768 (GRCm39)	V2194A	possibly damaging	Het
Hook3	T	G	8: 26,538,326 (GRCm39)	E525A	probably damaging	Het
Icam1	A	G	9: 20,927,401 (GRCm39)		probably null	Het
Ifngr1	C	T	10: 19,484,946 (GRCm39)	T315I	probably damaging	Het
Igsf10	A	G	3: 59,235,203 (GRCm39)		probably null	Het
Irag2	T	C	6: 145,106,681 (GRCm39)	S222P	probably damaging	Het
Krt87	A	G	15: 101,336,266 (GRCm39)		probably null	Het
Lama1	T	A	17: 68,050,321 (GRCm39)	C311S	probably damaging	Het
Lig3	T	A	11: 82,688,141 (GRCm39)	M714K	possibly damaging	Het
Lypd5	C	T	7: 24,052,910 (GRCm39)	T189I	probably benign	Het
Mapk8ip3	C	T	17: 25,120,692 (GRCm39)	G807D	probably benign	Het
Met	T	C	6: 17,535,104 (GRCm39)		probably null	Het
Nlrp4g	C	A	9: 124,349,526 (GRCm38)		noncoding transcript	Het
Nlrp6	T	A	7: 140,501,709 (GRCm39)	V62D	possibly damaging	Het
Nme7	A	G	1: 164,172,999 (GRCm39)		probably null	Het
Or2y1f	T	C	11: 49,184,457 (GRCm39)	I103T	possibly damaging	Het
Or5m9	A	G	2: 85,877,602 (GRCm39)	R259G	probably damaging	Het
Or5p79	T	C	7: 108,221,064 (GRCm39)	F15S	probably damaging	Het
Pcnx1	G	A	12: 82,038,795 (GRCm39)	R2020Q	possibly damaging	Het
Pdzd2	T	A	15: 12,402,718 (GRCm39)		probably benign	Het
Pi4ka	A	G	16: 17,166,637 (GRCm39)		probably benign	Het
Pkdrej	T	G	15: 85,700,360 (GRCm39)	I1859L	probably benign	Het
Plcg1	A	T	2: 160,596,318 (GRCm39)	H638L	probably damaging	Het
Polr1b	C	T	2: 128,961,072 (GRCm39)	S677L	probably damaging	Het
Ppef2	A	G	5: 92,382,096 (GRCm39)	L533P	probably damaging	Het
Sh3rf1	T	A	8: 61,782,370 (GRCm39)	W171R	probably damaging	Het
Son	T	C	16: 91,457,024 (GRCm39)		probably benign	Het
Sycp1	A	G	3: 102,827,950 (GRCm39)	S266P	probably damaging	Het
Tedc1	A	G	12: 113,126,770 (GRCm39)	E344G	probably damaging	Het
Tkfc	T	C	19: 10,571,892 (GRCm39)	I381M	probably benign	Het
Tmprss6	T	C	15: 78,326,634 (GRCm39)	D1G	probably null	Het
Ttn	T	C	2: 76,582,770 (GRCm39)	T22708A	probably damaging	Het
Ubtf	T	C	11: 102,199,710 (GRCm39)		probably benign	Het
Vps35l	T	A	7: 118,372,234 (GRCm39)		probably null	Het
Vwc2l	T	C	1: 70,768,070 (GRCm39)	F45L	probably damaging	Het
Xpo7	T	C	14: 70,939,195 (GRCm39)	T154A	probably benign	Het
Yars2	C	T	16: 16,124,406 (GRCm39)	R338*	probably null	Het

Other mutations in B3glct

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00954:B3glct	APN	5	149,619,902 (GRCm39)	missense	probably benign
IGL01953:B3glct	APN	5	149,669,000 (GRCm39)	missense	probably benign	0.00
IGL02093:B3glct	APN	5	149,656,150 (GRCm39)	missense	probably benign	0.08
IGL02344:B3glct	APN	5	149,650,313 (GRCm39)	nonsense	probably null
IGL03183:B3glct	APN	5	149,677,607 (GRCm39)	missense	probably damaging	1.00
IGL03277:B3glct	APN	5	149,650,299 (GRCm39)	missense	probably damaging	1.00
mnemonic	UTSW	5	149,668,905 (GRCm39)	missense	probably benign	0.19
past	UTSW	5	149,677,651 (GRCm39)	missense	probably damaging	0.98
R0336:B3glct	UTSW	5	149,670,057 (GRCm39)	missense	probably damaging	1.00
R0782:B3glct	UTSW	5	149,650,275 (GRCm39)	missense	probably damaging	1.00
R0881:B3glct	UTSW	5	149,663,034 (GRCm39)	missense	probably damaging	1.00
R1445:B3glct	UTSW	5	149,677,604 (GRCm39)	missense	probably damaging	1.00
R2069:B3glct	UTSW	5	149,632,845 (GRCm39)	missense	probably damaging	1.00
R2164:B3glct	UTSW	5	149,677,621 (GRCm39)	missense	probably damaging	0.98
R2340:B3glct	UTSW	5	149,668,905 (GRCm39)	missense	probably benign	0.19
R2395:B3glct	UTSW	5	149,677,651 (GRCm39)	missense	probably damaging	0.98
R4612:B3glct	UTSW	5	149,663,022 (GRCm39)	missense	probably damaging	1.00
R4751:B3glct	UTSW	5	149,648,867 (GRCm39)	splice site	probably null
R5303:B3glct	UTSW	5	149,677,488 (GRCm39)	intron	probably benign
R5405:B3glct	UTSW	5	149,632,818 (GRCm39)	missense	probably damaging	1.00
R5444:B3glct	UTSW	5	149,669,985 (GRCm39)	missense	probably damaging	1.00
R5616:B3glct	UTSW	5	149,653,399 (GRCm39)	nonsense	probably null
R5683:B3glct	UTSW	5	149,619,902 (GRCm39)	missense	probably benign
R6240:B3glct	UTSW	5	149,650,253 (GRCm39)	missense	probably benign	0.01
R6409:B3glct	UTSW	5	149,658,916 (GRCm39)	missense	probably benign
R6904:B3glct	UTSW	5	149,663,069 (GRCm39)	splice site	probably null
R6908:B3glct	UTSW	5	149,619,941 (GRCm39)	critical splice donor site	probably null
R7265:B3glct	UTSW	5	149,632,785 (GRCm39)	missense	probably benign	0.00
R7395:B3glct	UTSW	5	149,649,069 (GRCm39)	splice site	probably null
R7543:B3glct	UTSW	5	149,677,604 (GRCm39)	missense	probably damaging	1.00
R8098:B3glct	UTSW	5	149,673,965 (GRCm39)	nonsense	probably null
R8356:B3glct	UTSW	5	149,650,254 (GRCm39)	missense	probably damaging	0.99
R8456:B3glct	UTSW	5	149,650,254 (GRCm39)	missense	probably damaging	0.99
R9498:B3glct	UTSW	5	149,673,894 (GRCm39)	critical splice acceptor site	probably null
R9797:B3glct	UTSW	5	149,650,304 (GRCm39)	missense	probably benign	0.05

Posted On

2013-06-21