Mutagenetix > Incidental Mutation

Incidental Mutation 'R7342:B4gat1'

569968

Institutional Source

Beutler Lab

Gene Symbol

B4gat1

Ensembl Gene

ENSMUSG00000047379

Gene Name

beta-1,4-glucuronyltransferase 1

Synonyms

1500032M01Rik, iGNT, B3gnt1, B3gnt6, BETA3GNT1

MMRRC Submission

045432-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7342 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5088854-5091159 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 5089686 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 228 (V228M)

Ref Sequence

ENSEMBL: ENSMUSP00000062016 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053705] [ENSMUST00000116567]

AlphaFold

Q8BWP8

Predicted Effect

probably benign
Transcript: ENSMUST00000053705
AA Change: V228M

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000062016
Gene: ENSMUSG00000047379
AA Change: V228M

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
low complexity region	39	49	N/A	INTRINSIC
Pfam:Glyco_transf_49	94	409	3.8e-106	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000116567

SMART Domains

Protein: ENSMUSP00000112266
Gene: ENSMUSG00000080268

Domain	Start	End	E-Value	Type
low complexity region	29	59	N/A	INTRINSIC
Pfam:Sds3	60	209	5.3e-23	PFAM

Meta Mutation Damage Score

0.2934

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It is essential for the synthesis of poly-N-acetyllactosamine, a determinant for the blood group i antigen. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display altered lymphocyte rolling and abnormal lymph node B and T cell numbers. Mice homozygous for a hypomorphic allele exhibit mild muscular dystrophy, abnormal axon guidance and fasciculation and abnormal dorsal funiculus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	T	G	11: 101,308,018 (GRCm39)	T28P	probably benign	Het
Abcc1	C	A	16: 14,283,033 (GRCm39)	R1170S	probably damaging	Het
Adam8	T	C	7: 139,566,304 (GRCm39)	N568S	probably benign	Het
Arhgap17	T	C	7: 122,926,467 (GRCm39)	R65G	probably damaging	Het
Arid4b	A	C	13: 14,310,804 (GRCm39)	I136L	probably benign	Het
Ash1l	G	T	3: 88,873,304 (GRCm39)	G29V	possibly damaging	Het
Atp6v0a2	A	G	5: 124,784,676 (GRCm39)	T320A	probably damaging	Het
Calcr	T	A	6: 3,691,536 (GRCm39)	H450L	probably benign	Het
Cand1	A	T	10: 119,047,692 (GRCm39)	N599K	possibly damaging	Het
Cblif	A	T	19: 11,740,587 (GRCm39)	H407L	probably benign	Het
Cel	A	T	2: 28,450,649 (GRCm39)	Y125*	probably null	Het
Cfi	T	A	3: 129,668,781 (GRCm39)	N602K	probably damaging	Het
Clstn1	G	A	4: 149,713,887 (GRCm39)	A190T	probably damaging	Het
Cmklr1	C	T	5: 113,752,354 (GRCm39)	V216M	probably benign	Het
Cntnap5a	A	G	1: 115,987,852 (GRCm39)	T128A	probably benign	Het
Creld2	A	G	15: 88,710,610 (GRCm39)	T342A	probably benign	Het
Ctbp2	T	C	7: 132,616,041 (GRCm39)	E298G	probably damaging	Het
Ctsh	A	T	9: 89,957,040 (GRCm39)	E307V	probably benign	Het
Cxcl10	T	A	5: 92,496,029 (GRCm39)	D36V	probably benign	Het
Dgkb	A	G	12: 38,150,432 (GRCm39)	T73A	probably benign	Het
Dnah3	T	G	7: 119,629,208 (GRCm39)	E1449A	probably damaging	Het
Dpp6	T	C	5: 27,919,552 (GRCm39)	M683T	probably benign	Het
Foxn4	C	A	5: 114,396,760 (GRCm39)	W241L	probably damaging	Het
Gosr1	T	C	11: 76,621,033 (GRCm39)	I219V	probably benign	Het
Gtf2f2	T	C	14: 76,144,317 (GRCm39)	D179G	probably damaging	Het
Ighg2b	A	G	12: 113,270,050 (GRCm39)	Y323H		Het
Itpr2	A	T	6: 146,228,685 (GRCm39)	H1303Q	probably damaging	Het
Kif1b	A	C	4: 149,298,547 (GRCm39)	Y1040D	possibly damaging	Het
Lbr	C	T	1: 181,653,186 (GRCm39)		probably null	Het
Lrp2	A	G	2: 69,309,634 (GRCm39)	V2755A	possibly damaging	Het
Lrp6	G	T	6: 134,427,781 (GRCm39)	P1604T	probably damaging	Het
Lrrcc1	T	A	3: 14,619,431 (GRCm39)	C606S	probably benign	Het
Macf1	T	C	4: 123,275,917 (GRCm39)	E6217G	probably damaging	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Myo9b	T	C	8: 71,808,418 (GRCm39)	V1687A	probably damaging	Het
Naip2	A	T	13: 100,325,864 (GRCm39)	F15I	probably benign	Het
Neb	A	T	2: 52,171,679 (GRCm39)	S1605T	probably damaging	Het
Nuak1	T	C	10: 84,210,831 (GRCm39)	E419G	probably damaging	Het
Or14a260	G	A	7: 85,985,295 (GRCm39)	T103I	probably benign	Het
Or8c18	A	G	9: 38,203,574 (GRCm39)	Y111C	probably damaging	Het
Paip2b	T	A	6: 83,791,808 (GRCm39)	S25C	probably damaging	Het
Pgbd5	G	A	8: 125,160,709 (GRCm39)	R53C	probably benign	Het
Plin4	T	C	17: 56,411,608 (GRCm39)	T808A	probably benign	Het
Pramel11	A	T	4: 143,623,520 (GRCm39)	I218K	probably benign	Het
Prex2	A	G	1: 11,232,549 (GRCm39)	D872G	probably benign	Het
Ptf1a	A	G	2: 19,451,977 (GRCm39)	*325W	probably null	Het
Ptprg	T	C	14: 12,237,151 (GRCm38)	V1390A	possibly damaging	Het
Rhpn2	A	G	7: 35,033,771 (GRCm39)	T2A	probably damaging	Het
Rpl18a	T	C	8: 71,348,042 (GRCm39)	N214D	unknown	Het
Scp2	T	A	4: 107,948,518 (GRCm39)	Y197F	probably benign	Het
Sftpb	G	A	6: 72,286,858 (GRCm39)	R254H	probably benign	Het
Slc17a9	T	C	2: 180,378,555 (GRCm39)	L246P	probably damaging	Het
Slc38a9	G	T	13: 112,806,125 (GRCm39)		probably benign	Het
Slc4a1ap	C	T	5: 31,693,634 (GRCm39)	L523F	possibly damaging	Het
Spats2l	C	A	1: 57,925,106 (GRCm39)	T168K	possibly damaging	Het
Sstr1	A	G	12: 58,260,456 (GRCm39)	S360G	possibly damaging	Het
Taf1b	A	T	12: 24,608,343 (GRCm39)	K581*	probably null	Het
Tfip11	T	A	5: 112,475,838 (GRCm39)	M1K	probably null	Het
Tgoln1	G	C	6: 72,593,261 (GRCm39)	T73R	probably benign	Het
Ttc23l	G	A	15: 10,551,583 (GRCm39)	H48Y	probably benign	Het
Uggt2	T	A	14: 119,232,384 (GRCm39)	H1489L	possibly damaging	Het
Unc13b	T	C	4: 43,258,703 (GRCm39)	L1346P	probably damaging	Het
Vmac	T	C	17: 57,022,644 (GRCm39)	E122G	probably benign	Het
Vmn2r125	T	C	4: 156,703,138 (GRCm39)	V172A	probably damaging	Het
Zfp54	A	G	17: 21,648,014 (GRCm39)		probably benign	Het

Other mutations in B4gat1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01322:B4gat1	APN	19	5,090,037 (GRCm39)	missense	probably damaging	1.00
IGL02322:B4gat1	APN	19	5,089,155 (GRCm39)	missense	possibly damaging	0.92
IGL02339:B4gat1	APN	19	5,089,446 (GRCm39)	missense	probably benign
IGL02717:B4gat1	APN	19	5,088,997 (GRCm39)	unclassified	probably benign
R0063:B4gat1	UTSW	19	5,089,735 (GRCm39)	nonsense	probably null
R0827:B4gat1	UTSW	19	5,089,725 (GRCm39)	missense	possibly damaging	0.65
R5888:B4gat1	UTSW	19	5,089,560 (GRCm39)	missense	probably benign	0.38
R5901:B4gat1	UTSW	19	5,089,241 (GRCm39)	nonsense	probably null
R6535:B4gat1	UTSW	19	5,089,558 (GRCm39)	missense	possibly damaging	0.54
R6988:B4gat1	UTSW	19	5,090,462 (GRCm39)	missense	probably benign	0.00
R8967:B4gat1	UTSW	19	5,089,678 (GRCm39)	missense	probably damaging	1.00
R9057:B4gat1	UTSW	19	5,089,056 (GRCm39)	missense	possibly damaging	0.70
R9541:B4gat1	UTSW	19	5,089,896 (GRCm39)	missense	probably damaging	0.97
R9572:B4gat1	UTSW	19	5,089,474 (GRCm39)	missense	probably damaging	1.00
R9719:B4gat1	UTSW	19	5,090,516 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AACCTGGAGAGTTTGCCCTG -3'
(R):5'- TAAAATGGTTCCCAGGGGTCC -3'

Sequencing Primer
(F):5'- AGAGTTTGCCCTGCTGCG -3'
(R):5'- CCATAATAGAAGGGCCGGACTTC -3'

Posted On

2019-09-13