Mutagenetix > Incidental Mutation

Incidental Mutation 'R8217:B3gat1'

636425

Institutional Source

Beutler Lab

Gene Symbol

B3gat1

Ensembl Gene

ENSMUSG00000045994

Gene Name

beta-1,3-glucuronyltransferase 1

Synonyms

0710007K08Rik, GlcAT-P

MMRRC Submission

067658-MU

Accession Numbers

Essential gene?

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

Stock #

R8217 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26644813-26672646 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 26668165 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 265 (A265T)

Ref Sequence

ENSEMBL: ENSMUSP00000110924 (fasta)

Gene Model

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

AlphaFold

Q9CW73

Predicted Effect

probably damaging
Transcript: ENSMUST00000115269
AA Change: A265T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110924
Gene: ENSMUSG00000045994
AA Change: A265T

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
AA Change: A195T

SMART Domains

Protein: ENSMUSP00000125401
Gene: ENSMUSG00000045994
AA Change: A195T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000159799
AA Change: A265T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124438
Gene: ENSMUSG00000045994
AA Change: A265T

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: A265T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124067
Gene: ENSMUSG00000045994
AA Change: A265T

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: A252T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125700
Gene: ENSMUSG00000045994
AA Change: A252T

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 benign
Transcript: ENSMUST00000161431

SMART Domains

Protein: ENSMUSP00000124752
Gene: ENSMUSG00000045994

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

98% (48/49)

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
Acrbp	T	C	6: 125,037,921 (GRCm39)	L406P	probably damaging	Het
Aph1b	T	C	9: 66,686,554 (GRCm39)	K239E	possibly damaging	Het
Atp13a4	C	A	16: 29,222,619 (GRCm39)	V1102F		Het
Bod1l	T	C	5: 41,988,850 (GRCm39)	E419G	probably damaging	Het
Ccdc142	T	C	6: 83,080,197 (GRCm39)	L380P	probably damaging	Het
Cd55b	CTTTT	CTTTTT	1: 130,347,337 (GRCm39)		probably null	Het
Cfi	A	C	3: 129,648,650 (GRCm39)	N178T	possibly damaging	Het
Col5a1	T	A	2: 27,812,135 (GRCm39)	D72E	unknown	Het
Cspg4	T	A	9: 56,797,637 (GRCm39)	V1367D	possibly damaging	Het
D5Ertd579e	A	C	5: 36,771,402 (GRCm39)	S998A	probably benign	Het
Ehf	T	C	2: 103,109,976 (GRCm39)	E77G	possibly damaging	Het
Erap1	T	C	13: 74,820,937 (GRCm39)	I662T	probably benign	Het
F11r	GGTGTG	GGTGTGTG	1: 171,290,656 (GRCm39)		probably null	Het
Flvcr2	GTAGTGTATA	GTA	12: 85,849,922 (GRCm39)		probably null	Het
Klhl8	A	G	5: 104,015,466 (GRCm39)	V486A	possibly damaging	Het
Lrrc72	A	T	12: 36,258,676 (GRCm39)	D60E	probably damaging	Het
Marchf5	C	T	19: 37,185,210 (GRCm39)		probably benign	Het
Mtmr12	T	C	15: 12,259,726 (GRCm39)	I365T	possibly damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Nod2	A	C	8: 89,390,785 (GRCm39)	D364A	probably benign	Het
Numa1	T	A	7: 101,641,876 (GRCm39)	M108K	possibly damaging	Het
Nutm2	G	T	13: 50,623,759 (GRCm39)	R152L	probably benign	Het
Or14c43	A	G	7: 86,115,390 (GRCm39)	Y257C	probably damaging	Het
Or2t46	A	T	11: 58,471,792 (GRCm39)	M41L	probably benign	Het
Or8k17	C	T	2: 86,066,862 (GRCm39)	V106M	probably benign	Het
Pak1ip1	T	A	13: 41,166,126 (GRCm39)	S350R	probably benign	Het
Pcdha3	T	C	18: 37,079,974 (GRCm39)	F239L	probably damaging	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pkm	C	T	9: 59,586,092 (GRCm39)	T524I	possibly damaging	Het
Plekhg2	T	A	7: 28,067,717 (GRCm39)	Q245L	probably null	Het
Pola2	T	A	19: 6,013,855 (GRCm39)	K26N	possibly damaging	Het
Prune2	G	T	19: 17,097,480 (GRCm39)	A995S	probably benign	Het
Rap2b	C	A	3: 61,272,551 (GRCm39)	T25K	possibly damaging	Het
Scrib	A	G	15: 75,939,004 (GRCm39)	S165P	probably damaging	Het
Sdk1	A	T	5: 142,197,713 (GRCm39)	H2122L	possibly damaging	Het
Sec24b	A	T	3: 129,834,599 (GRCm39)	F200I	possibly damaging	Het
Sh3rf1	T	C	8: 61,782,964 (GRCm39)	V226A	possibly damaging	Het
Sik1	T	A	17: 32,070,286 (GRCm39)	H141L	probably damaging	Het
Slc9a5	A	T	8: 106,089,956 (GRCm39)	E638V	probably damaging	Het
Slco1a5	A	G	6: 142,221,202 (GRCm39)	C15R	probably benign	Het
Slit1	C	T	19: 41,612,959 (GRCm39)	D854N	possibly damaging	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tec	A	T	5: 72,921,602 (GRCm39)	M372K	probably benign	Het
Tlr2	A	G	3: 83,745,373 (GRCm39)	F237L	probably benign	Het
Trio	A	T	15: 27,819,055 (GRCm39)	L1597Q	probably damaging	Het
Trpa1	A	T	1: 14,957,247 (GRCm39)	M723K	probably damaging	Het
Ttc21a	T	C	9: 119,783,694 (GRCm39)	I592T	probably benign	Het
Vmn2r94	T	C	17: 18,463,986 (GRCm39)	E768G	probably damaging	Het
Zfhx3	A	G	8: 109,677,349 (GRCm39)	T2800A	probably benign	Het
Zpld1	A	G	16: 55,047,295 (GRCm39)		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
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
R9023:B3gat1	UTSW	9	26,663,069 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- TTATTAAGTGACCCACCTCCTG -3'
(R):5'- AGTCCTGAAGAGGGTCTTACC -3'

Sequencing Primer
(F):5'- CAGGTAGTGTTTTCATCCTAGATTC -3'
(R):5'- CCTGAAGAGGGTCTTACCTTGGTAC -3'

Posted On

2020-07-13