Mutagenetix > Incidental Mutation

Incidental Mutation 'R6943:B4galt1'

540644

Institutional Source

Beutler Lab

Gene Symbol

B4galt1

Ensembl Gene

ENSMUSG00000028413

Gene Name

UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1

Synonyms

beta-1,4-GalT1, beta 1,4-Galactosyltransferase I, b1,4-Galactosyltransferase I, GalT, Ggtb2, B-1,4-GalT1, Ggtb

MMRRC Submission

045057-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6943 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40804602-40854005 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40812860 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 222 (M222V)

Ref Sequence

ENSEMBL: ENSMUSP00000030121 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030121] [ENSMUST00000108096]

AlphaFold

P15535

Predicted Effect

probably benign
Transcript: ENSMUST00000030121
AA Change: M222V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000030121
Gene: ENSMUSG00000028413
AA Change: M222V

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
low complexity region	73	89	N/A	INTRINSIC
Pfam:Glyco_transf_7N	131	264	3.1e-62	PFAM
Pfam:Glyco_transf_7C	268	346	5.9e-32	PFAM
Pfam:Glyco_tranf_2_2	279	339	4.1e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108096
AA Change: M222V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000103731
Gene: ENSMUSG00000028413
AA Change: M222V

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
low complexity region	73	89	N/A	INTRINSIC
Pfam:Glyco_transf_7N	131	266	1.8e-52	PFAM
Pfam:Glyco_transf_7C	268	328	8.7e-26	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 98.9%
20x: 96.2%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes two distinct enzyme isoforms, a long membrane-bound form and a short soluble form. These alternate isoforms are thought to be produced through alternative nested transcription initiation and different in-frame start codon usage. These enzymes catalyze the transfer of galactose to acceptor sugars, such as N-acetylglucosamine and glucose. The long form of this enzyme is localized to the trans-Golgi membrane and is involved in glycoconjugate biosynthesis. The short form functions in lactose biosynthesis though formation of a heterodimer with alpha-lactalbumin. [provided by RefSeq, Nov 2012]
PHENOTYPE: Homozygotes for targeted null mutations exhibit growth retardation, low viability, excessive epithelial cell proliferation of skin and small intestine, sperm with reduced fertilizing capacity, birthing difficulty, and mammary gland defects. [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
Aacs	T	A	5: 125,583,362 (GRCm39)		probably null	Het
Arhgef1	A	G	7: 24,623,156 (GRCm39)	I423V	probably benign	Het
Aspm	T	C	1: 139,408,280 (GRCm39)	L2389P	probably damaging	Het
Bsn	C	A	9: 107,985,016 (GRCm39)	G3013C	unknown	Het
Camsap2	T	C	1: 136,232,187 (GRCm39)	H136R	probably damaging	Het
Ccar1	A	G	10: 62,582,715 (GRCm39)	V1047A	unknown	Het
Ccdc80	A	G	16: 44,915,445 (GRCm39)	E67G	probably benign	Het
Ces3b	G	T	8: 105,819,710 (GRCm39)	G511V	probably damaging	Het
Cops6	T	A	5: 138,161,790 (GRCm39)	H224Q	probably benign	Het
Dnah5	A	T	15: 28,235,866 (GRCm39)	D331V	probably damaging	Het
Dusp29	T	C	14: 21,727,135 (GRCm39)	D171G	probably damaging	Het
Echs1	G	A	7: 139,688,007 (GRCm39)	T266I	probably damaging	Het
Ehmt2	G	A	17: 35,130,406 (GRCm39)	C1017Y	probably damaging	Het
Epb41l5	C	T	1: 119,536,859 (GRCm39)	R344Q	probably damaging	Het
Fcgbp	G	A	7: 27,791,477 (GRCm39)	V913I	probably benign	Het
Foxd4	A	G	19: 24,877,240 (GRCm39)	F320S	probably damaging	Het
Frmpd4	C	T	X: 166,387,579 (GRCm39)	R133K	probably damaging	Het
Glmp	A	G	3: 88,233,917 (GRCm39)	Y258C	probably damaging	Het
Gphn	C	G	12: 78,538,955 (GRCm39)	S200R	possibly damaging	Het
Gvin2	G	A	7: 105,551,187 (GRCm39)	Q622*	probably null	Het
H2-Q7	T	G	17: 35,658,560 (GRCm39)	M66R	probably benign	Het
Hivep2	T	A	10: 14,004,058 (GRCm39)	C219S	probably damaging	Het
Hlcs	A	T	16: 93,942,261 (GRCm39)	M90K	possibly damaging	Het
Itga8	C	A	2: 12,160,182 (GRCm39)		probably null	Het
Klrk1	T	A	6: 129,598,203 (GRCm39)	M1L	possibly damaging	Het
Kmo	T	A	1: 175,485,941 (GRCm39)	F385I	probably benign	Het
Lrit1	G	C	14: 36,782,052 (GRCm39)	V242L	probably damaging	Het
Lrrc3c	A	G	11: 98,490,075 (GRCm39)	D144G	probably damaging	Het
Lyzl4	C	T	9: 121,412,047 (GRCm39)	W123*	probably null	Het
Map3k1	A	G	13: 111,909,246 (GRCm39)	S77P	probably benign	Het
Mark1	T	C	1: 184,630,984 (GRCm39)	T709A	probably damaging	Het
Nbr1	A	T	11: 101,468,777 (GRCm39)	I878F	probably damaging	Het
Nedd1	A	T	10: 92,547,168 (GRCm39)	H118Q	probably damaging	Het
Nfatc1	C	T	18: 80,678,770 (GRCm39)	G873S	probably damaging	Het
Ngly1	T	G	14: 16,283,467 (GRCm38)	N415K	probably damaging	Het
Nol6	C	A	4: 41,118,962 (GRCm39)	R677L	probably damaging	Het
Nop9	T	C	14: 55,990,270 (GRCm39)	V471A	probably benign	Het
Notch4	A	G	17: 34,802,577 (GRCm39)	N1333D	probably benign	Het
Nsun2	G	A	13: 69,778,152 (GRCm39)	G478R	probably damaging	Het
Or10x4	T	A	1: 174,219,407 (GRCm39)	Y257*	probably null	Het
Or1ad8	T	A	11: 50,898,153 (GRCm39)	M118K	probably damaging	Het
Or5m9b	T	C	2: 85,905,264 (GRCm39)	F60S	probably damaging	Het
Or8g34	A	T	9: 39,373,159 (GRCm39)	Y144F	probably benign	Het
Pcp4l1	T	C	1: 171,002,022 (GRCm39)	E46G	possibly damaging	Het
Plek2	T	C	12: 78,936,083 (GRCm39)		probably null	Het
Rbl1	T	G	2: 157,030,206 (GRCm39)	I434L	probably benign	Het
Ryr2	A	G	13: 11,581,834 (GRCm39)	V4777A	possibly damaging	Het
Sgk1	T	C	10: 21,758,593 (GRCm39)	F19S	probably damaging	Het
Stard9	C	T	2: 120,532,677 (GRCm39)	A2978V	probably benign	Het
Syne1	T	C	10: 5,033,940 (GRCm39)	T7711A	probably benign	Het
Taf10	G	A	7: 105,393,383 (GRCm39)	T48I	probably benign	Het
Tgfbi	T	G	13: 56,784,989 (GRCm39)	S649A	possibly damaging	Het
Thbs3	T	C	3: 89,132,171 (GRCm39)	V749A	probably benign	Het
Tmem241	G	T	18: 12,180,641 (GRCm39)	H218N	possibly damaging	Het
Tmem266	C	T	9: 55,284,851 (GRCm39)		probably benign	Het
Tnc	T	C	4: 63,900,982 (GRCm39)	I1586M	probably damaging	Het
Ubr4	T	A	4: 139,164,442 (GRCm39)	C2676*	probably null	Het
Unc13a	A	T	8: 72,105,021 (GRCm39)	I747N	probably damaging	Het
Vangl1	A	T	3: 102,073,097 (GRCm39)		probably benign	Het
Vmn1r184	C	T	7: 25,966,563 (GRCm39)	T103I	possibly damaging	Het
Vmn1r204	T	C	13: 22,740,474 (GRCm39)	V35A	probably benign	Het
Vps13b	A	G	15: 35,448,835 (GRCm39)	H603R	possibly damaging	Het
Zfp105	A	G	9: 122,754,303 (GRCm39)	D44G	probably benign	Het
Zfp11	T	C	5: 129,735,152 (GRCm39)	H103R	probably damaging	Het
Zfp335	A	G	2: 164,736,795 (GRCm39)	F947L	possibly damaging	Het

Other mutations in B4galt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01795:B4galt1	APN	4	40,807,760 (GRCm39)	missense	probably damaging	1.00
periwinkle	UTSW	4	40,807,760 (GRCm39)	missense	probably damaging	1.00
R1589:B4galt1	UTSW	4	40,823,575 (GRCm39)	missense	probably benign	0.28
R3797:B4galt1	UTSW	4	40,807,258 (GRCm39)	missense	probably benign	0.12
R4419:B4galt1	UTSW	4	40,853,537 (GRCm39)	missense	probably benign
R4703:B4galt1	UTSW	4	40,823,569 (GRCm39)	missense	probably benign	0.14
R4727:B4galt1	UTSW	4	40,807,812 (GRCm39)	missense	probably damaging	1.00
R5706:B4galt1	UTSW	4	40,807,268 (GRCm39)	missense	probably damaging	0.97
R5903:B4galt1	UTSW	4	40,807,760 (GRCm39)	missense	probably damaging	1.00
R6860:B4galt1	UTSW	4	40,807,796 (GRCm39)	missense	probably benign	0.00
R6878:B4galt1	UTSW	4	40,809,694 (GRCm39)	missense	probably damaging	1.00
R7239:B4galt1	UTSW	4	40,812,754 (GRCm39)	missense	probably damaging	1.00
R7479:B4galt1	UTSW	4	40,823,587 (GRCm39)	missense	probably damaging	1.00
R7792:B4galt1	UTSW	4	40,809,373 (GRCm39)	missense	probably benign	0.00
R7887:B4galt1	UTSW	4	40,823,501 (GRCm39)	missense	probably benign	0.08
R7923:B4galt1	UTSW	4	40,809,373 (GRCm39)	missense	probably benign	0.00
R8330:B4galt1	UTSW	4	40,812,787 (GRCm39)	missense	probably damaging	1.00
R8968:B4galt1	UTSW	4	40,807,243 (GRCm39)	missense	probably benign
R9450:B4galt1	UTSW	4	40,853,804 (GRCm39)	start codon destroyed	probably null	0.98
R9574:B4galt1	UTSW	4	40,853,766 (GRCm39)	missense	probably benign
R9705:B4galt1	UTSW	4	40,853,474 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CTAAACCCGAACTTGTCCATTGC -3'
(R):5'- CACACATGTCAGCCCTTCTG -3'

Sequencing Primer
(F):5'- TGTCCATTGCAACAGAAATGTGCC -3'
(R):5'- ACTCCTGGAAATGAGGTTGC -3'

Posted On

2018-11-06