Mutagenetix > Incidental Mutation

Incidental Mutation 'R0944:B3gat1'

82010

Institutional Source

Beutler Lab

Gene Symbol

B3gat1

Ensembl Gene

ENSMUSG00000045994

Gene Name

beta-1,3-glucuronyltransferase 1

Synonyms

0710007K08Rik, GlcAT-P

MMRRC Submission

039083-MU

Accession Numbers

Essential gene?

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

Stock #

R0944 (G1)

Quality Score

225

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: 99.7%
3x: 99.1%
10x: 97.3%
20x: 94.3%

Validation Efficiency

100% (51/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110018I06Rik	G	A	12: 107,455,268 (GRCm39)	R118K	unknown	Het
Abcc6	T	A	7: 45,664,929 (GRCm39)	I301F	possibly damaging	Het
Akap9	C	A	5: 4,114,742 (GRCm39)		probably null	Het
Alg6	A	G	4: 99,650,297 (GRCm39)	I506V	probably benign	Het
Camk1	A	G	6: 113,315,352 (GRCm39)	Y105H	probably damaging	Het
Ccdc81	T	C	7: 89,515,777 (GRCm39)	N634S	probably damaging	Het
Clcn1	C	A	6: 42,290,075 (GRCm39)	Q837K	probably benign	Het
Clec16a	A	G	16: 10,506,510 (GRCm39)		probably benign	Het
Col22a1	T	C	15: 71,753,511 (GRCm39)	I130V	probably benign	Het
Coro2b	T	C	9: 62,335,263 (GRCm39)	S308G	probably benign	Het
Cpxm1	A	G	2: 130,239,423 (GRCm39)	W2R	probably damaging	Het
Csmd3	T	C	15: 47,475,227 (GRCm39)	N3364S	probably damaging	Het
Dgkq	A	G	5: 108,804,331 (GRCm39)	V131A	probably damaging	Het
Dnai1	A	G	4: 41,629,997 (GRCm39)	S469G	probably benign	Het
Efcab3	T	G	11: 104,601,556 (GRCm39)		probably null	Het
Eml4	G	A	17: 83,785,489 (GRCm39)	E885K	probably benign	Het
Etfa	A	T	9: 55,396,122 (GRCm39)	I148N	probably damaging	Het
Gpbar1	A	G	1: 74,318,681 (GRCm39)	D308G	probably benign	Het
Gprin3	T	C	6: 59,330,900 (GRCm39)	E469G	possibly damaging	Het
Igkv1-115	T	C	6: 68,138,667 (GRCm39)	V90A	probably damaging	Het
Ints2	A	G	11: 86,135,289 (GRCm39)	V375A	possibly damaging	Het
Mindy3	T	C	2: 12,400,993 (GRCm39)	M242V	possibly damaging	Het
Or11m3	A	G	15: 98,395,565 (GRCm39)	I71V	probably benign	Het
Or1n1b	T	C	2: 36,780,698 (GRCm39)	H54R	probably damaging	Het
Or5t9	A	C	2: 86,659,281 (GRCm39)	I62L	probably benign	Het
P3h1	G	A	4: 119,095,956 (GRCm39)	E355K	probably benign	Het
Paxbp1	T	C	16: 90,820,315 (GRCm39)	T703A	probably benign	Het
Pcdh15	A	T	10: 74,046,302 (GRCm39)	Y193F	probably damaging	Het
Pdxdc1	A	G	16: 13,656,233 (GRCm39)	V613A	probably damaging	Het
Plekha5	T	C	6: 140,515,922 (GRCm39)		probably benign	Het
Pmel	A	T	10: 128,551,126 (GRCm39)	Q123L	possibly damaging	Het
Prl6a1	T	C	13: 27,502,149 (GRCm39)		probably benign	Het
Rcan1	T	C	16: 92,190,379 (GRCm39)	T187A	probably damaging	Het
Rp1l1	A	G	14: 64,269,681 (GRCm39)	S1756G	probably benign	Het
Runx2	A	T	17: 44,919,123 (GRCm39)	M405K	probably damaging	Het
Serinc5	T	C	13: 92,797,613 (GRCm39)	Y39H	probably damaging	Het
Sgsm1	G	A	5: 113,413,740 (GRCm39)	T676I	probably benign	Het
Slc6a15	G	C	10: 103,245,657 (GRCm39)	V547L	probably benign	Het
Slk	T	C	19: 47,597,432 (GRCm39)	I80T	probably damaging	Het
Spice1	A	G	16: 44,205,124 (GRCm39)	N810S	probably benign	Het
Spred2	A	G	11: 19,951,104 (GRCm39)		probably benign	Het
Tbc1d4	C	G	14: 101,716,656 (GRCm39)		probably benign	Het
Tdrd7	G	A	4: 46,029,762 (GRCm39)	V1032M	probably benign	Het
Tlr11	A	G	14: 50,599,793 (GRCm39)	N593S	probably benign	Het
Trpa1	T	C	1: 14,982,585 (GRCm39)		probably null	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Usp25	T	C	16: 76,878,335 (GRCm39)		probably benign	Het
Vmn2r97	T	A	17: 19,167,665 (GRCm39)	S640T	probably benign	Het
Zc3h6	A	G	2: 128,848,736 (GRCm39)	Y321C	probably damaging	Het
Zfp329	T	A	7: 12,545,395 (GRCm39)	N43I	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- GACTCAGGTTCTCACCTTGTAGATGC -3'
(R):5'- GCCTATCAGTGCAATCGTCTTACTCAC -3'

Sequencing Primer
(F):5'- CGCAGCACAAGAAGGGTG -3'
(R):5'- GATACCATCTTGGGTGAGGAC -3'

Posted On

2013-11-08