Mutagenetix > Incidental Mutation

Incidental Mutation 'R0098:B3gat1'

16922

Institutional Source

Beutler Lab

Gene Symbol

B3gat1

Ensembl Gene

ENSMUSG00000045994

Gene Name

beta-1,3-glucuronyltransferase 1

Synonyms

0710007K08Rik, GlcAT-P

MMRRC Submission

038384-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R0098 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

26644813-26672646 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 26668237 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 276 (R276C)

Ref Sequence

ENSEMBL: ENSMUSP00000124752 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115269] [ENSMUST00000159799] [ENSMUST00000160899] [ENSMUST00000161115] [ENSMUST00000161431]

AlphaFold

Q9CW73

Predicted Effect

probably damaging
Transcript: ENSMUST00000115269
AA Change: R289C

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110924
Gene: ENSMUSG00000045994
AA Change: R289C

Domain	Start	End	E-Value	Type
transmembrane domain	20	37	N/A	INTRINSIC
Pfam:Glyco_transf_43	118	329	6.6e-85	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159527

SMART Domains

Protein: ENSMUSP00000125401
Gene: ENSMUSG00000045994

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_43	48	259	2.1e-85	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000159799
AA Change: R289C

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124438
Gene: ENSMUSG00000045994
AA Change: R289C

Domain	Start	End	E-Value	Type
transmembrane domain	20	37	N/A	INTRINSIC
Pfam:Glyco_transf_43	118	329	6.6e-85	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000160899
AA Change: R289C

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124067
Gene: ENSMUSG00000045994
AA Change: R289C

Domain	Start	End	E-Value	Type
transmembrane domain	20	37	N/A	INTRINSIC
Pfam:Glyco_transf_43	118	328	1.7e-77	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000161115
AA Change: R276C

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

SMART Domains

Protein: ENSMUSP00000125700
Gene: ENSMUSG00000045994
AA Change: R276C

Domain	Start	End	E-Value	Type
transmembrane domain	7	24	N/A	INTRINSIC
Pfam:Glyco_transf_43	105	316	3.7e-85	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000161431
AA Change: R276C

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

SMART Domains

Protein: ENSMUSP00000124752
Gene: ENSMUSG00000045994
AA Change: R276C

Domain	Start	End	E-Value	Type
transmembrane domain	7	24	N/A	INTRINSIC
Pfam:Glyco_transf_43	105	202	1.9e-34	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 90.4%
3x: 88.1%
10x: 82.9%
20x: 75.6%

Validation Efficiency

93% (78/84)

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 member of the glucuronyltransferase gene family. These enzymes exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product functions as the key enzyme in a glucuronyl transfer reaction during the biosynthesis of the carbohydrate epitope HNK-1 (human natural killer-1, also known as CD57 and LEU7). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit reduced long term potentiation and impaired spatial learning. [provided by MGI curators]

Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	A	T	17: 36,207,309 (GRCm39)		probably benign	Het
Acad9	T	C	3: 36,127,689 (GRCm39)	I97T	probably damaging	Het
Adam32	T	A	8: 25,404,405 (GRCm39)	Y200F	possibly damaging	Het
Adcy4	T	C	14: 56,007,284 (GRCm39)	N976S	possibly damaging	Het
Adgrb2	C	G	4: 129,901,624 (GRCm39)	P416R	probably damaging	Het
Alpk2	A	G	18: 65,482,982 (GRCm39)	L342S	probably damaging	Het
Ambra1	T	A	2: 91,598,056 (GRCm39)	H72Q	possibly damaging	Het
Ankrd10	T	C	8: 11,662,560 (GRCm39)	H391R	probably benign	Het
Arfgef3	A	G	10: 18,465,390 (GRCm39)	V2151A	probably damaging	Het
Atm	T	C	9: 53,429,869 (GRCm39)	D389G	probably benign	Het
Atp10b	A	T	11: 43,080,431 (GRCm39)	S236C	probably benign	Het
Bcl9l	C	T	9: 44,416,914 (GRCm39)	P251S	probably benign	Het
Cdhr5	C	A	7: 140,849,781 (GRCm39)	G331W	probably damaging	Het
Cmklr1	T	C	5: 113,752,531 (GRCm39)	T157A	probably benign	Het
Cndp1	T	A	18: 84,646,949 (GRCm39)	E246D	probably damaging	Het
Cntn4	A	G	6: 106,595,385 (GRCm39)		probably benign	Het
Crebbp	A	G	16: 3,909,792 (GRCm39)	L1078P	probably damaging	Het
Cyp20a1	G	T	1: 60,426,413 (GRCm39)	E452*	probably null	Het
Emb	T	C	13: 117,404,034 (GRCm39)	V262A	probably damaging	Het
Ephb1	C	T	9: 101,918,339 (GRCm39)	R390H	probably damaging	Het
Faf1	T	C	4: 109,792,696 (GRCm39)	L556S	probably damaging	Het
Fat2	T	C	11: 55,189,431 (GRCm39)	T1196A	probably damaging	Het
Fbf1	A	T	11: 116,038,945 (GRCm39)		probably null	Het
Gid8	T	A	2: 180,356,528 (GRCm39)	I55N	possibly damaging	Het
Hexa	T	C	9: 59,465,383 (GRCm39)	Y213H	probably damaging	Het
Igf2bp1	T	C	11: 95,863,989 (GRCm39)	K234E	probably damaging	Het
Ighv1-58	C	T	12: 115,275,919 (GRCm39)	G73E	probably benign	Het
Kalrn	A	T	16: 33,795,989 (GRCm39)	I1262K	possibly damaging	Het
Lrp1	C	T	10: 127,388,607 (GRCm39)	V3281I	probably benign	Het
Lrp2	T	C	2: 69,305,756 (GRCm39)	D2935G	probably damaging	Het
Lypd6	T	A	2: 50,080,792 (GRCm39)	V160E	probably benign	Het
Muc19	C	T	15: 91,777,101 (GRCm39)		noncoding transcript	Het
Nrxn3	A	G	12: 89,226,971 (GRCm39)	D202G	probably damaging	Het
Nxn	A	T	11: 76,169,420 (GRCm39)		probably benign	Het
Or5b107	T	A	19: 13,143,026 (GRCm39)	I216K	probably benign	Het
Palld	C	A	8: 61,978,120 (GRCm39)	G890V	probably damaging	Het
Pcx	C	A	19: 4,651,775 (GRCm39)		probably benign	Het
Pik3c2g	T	C	6: 139,639,441 (GRCm39)	S416P	unknown	Het
Ppa2	C	T	3: 133,076,234 (GRCm39)		probably benign	Het
Ppp1r18	A	G	17: 36,178,888 (GRCm39)	I254M	probably benign	Het
Prune2	A	G	19: 17,101,267 (GRCm39)	E2257G	possibly damaging	Het
Rd3	A	G	1: 191,717,261 (GRCm39)	M244V	probably benign	Het
Rfx5	T	A	3: 94,865,679 (GRCm39)	V326E	probably damaging	Het
Rgs3	G	C	4: 62,544,143 (GRCm39)	R305P	probably damaging	Het
Rpp40	A	G	13: 36,082,970 (GRCm39)	Y173H	probably benign	Het
Ryr3	T	C	2: 112,731,376 (GRCm39)	N645D	probably damaging	Het
Sema3e	T	C	5: 14,302,446 (GRCm39)	V657A	possibly damaging	Het
Serpina3n	T	A	12: 104,379,777 (GRCm39)	V390E	probably damaging	Het
Shank1	A	G	7: 43,962,709 (GRCm39)	Y141C	unknown	Het
Smg1	A	T	7: 117,744,690 (GRCm39)	M3154K	probably benign	Het
Tdrd12	A	G	7: 35,175,418 (GRCm39)	L996P	probably damaging	Het
Tfrc	G	T	16: 32,442,244 (GRCm39)	V490F	probably damaging	Het
Tie1	T	C	4: 118,343,784 (GRCm39)	S53G	probably benign	Het
Topaz1	T	C	9: 122,619,188 (GRCm39)	Y1262H	possibly damaging	Het
Ttc3	A	T	16: 94,191,124 (GRCm39)	H222L	probably benign	Het
Ubxn8	T	C	8: 34,125,393 (GRCm39)		probably benign	Het
Unk	A	G	11: 115,940,995 (GRCm39)	Y252C	probably damaging	Het
Vwc2l	A	G	1: 70,768,290 (GRCm39)	Y71C	probably damaging	Het
Zfp386	T	A	12: 116,022,834 (GRCm39)	L184*	probably null	Het

Other mutations in B3gat1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01323:B3gat1	APN	9	26,667,206 (GRCm39)	missense	possibly damaging	0.88
IGL01357:B3gat1	APN	9	26,668,283 (GRCm39)	missense	probably damaging	1.00
IGL02140:B3gat1	APN	9	26,669,043 (GRCm39)	missense	possibly damaging	0.63
R0098:B3gat1	UTSW	9	26,668,237 (GRCm39)	missense	probably damaging	1.00
R0234:B3gat1	UTSW	9	26,667,377 (GRCm39)	missense	probably damaging	0.99
R0234:B3gat1	UTSW	9	26,667,377 (GRCm39)	missense	probably damaging	0.99
R0944:B3gat1	UTSW	9	26,668,237 (GRCm39)	missense	probably damaging	1.00
R1608:B3gat1	UTSW	9	26,663,112 (GRCm39)	missense	probably damaging	1.00
R1957:B3gat1	UTSW	9	26,667,248 (GRCm39)	missense	possibly damaging	0.86
R3401:B3gat1	UTSW	9	26,667,149 (GRCm39)	missense	probably damaging	1.00
R3956:B3gat1	UTSW	9	26,668,324 (GRCm39)	missense	possibly damaging	0.49
R4669:B3gat1	UTSW	9	26,663,052 (GRCm39)	missense	probably benign	0.37
R4803:B3gat1	UTSW	9	26,666,986 (GRCm39)	missense	probably benign	0.01
R4942:B3gat1	UTSW	9	26,666,894 (GRCm39)	missense	probably benign	0.00
R6818:B3gat1	UTSW	9	26,662,998 (GRCm39)	start gained	probably benign
R7912:B3gat1	UTSW	9	26,666,882 (GRCm39)	missense	probably benign	0.00
R8217:B3gat1	UTSW	9	26,668,165 (GRCm39)	missense	probably damaging	1.00
R9023:B3gat1	UTSW	9	26,663,069 (GRCm39)	start gained	probably benign

Posted On

2013-01-20