Mutagenetix > Incidental Mutation

Incidental Mutation 'R7479:B4galt1'

579648

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

045553-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7479 (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 40823587 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 168 (Y168C)

Ref Sequence

ENSEMBL: ENSMUSP00000030121 (fasta)

Gene Model

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

AlphaFold

P15535

Predicted Effect

probably damaging
Transcript: ENSMUST00000030121
AA Change: Y168C

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

SMART Domains

Protein: ENSMUSP00000030121
Gene: ENSMUSG00000028413
AA Change: Y168C

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 damaging
Transcript: ENSMUST00000108096
AA Change: Y168C

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

SMART Domains

Protein: ENSMUSP00000103731
Gene: ENSMUSG00000028413
AA Change: Y168C

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: 99.9%
10x: 99.5%
20x: 98.1%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	A	3: 124,372,142 (GRCm39)	M81L	probably benign	Het
Ano9	T	C	7: 140,682,348 (GRCm39)	T667A	probably damaging	Het
Anpep	T	A	7: 79,485,118 (GRCm39)	I623F	probably benign	Het
Apba2	T	C	7: 64,389,607 (GRCm39)	I501T	possibly damaging	Het
Ascc3	T	A	10: 50,525,895 (GRCm39)	Y536N	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
C2	A	G	17: 35,082,441 (GRCm39)	C647R	probably damaging	Het
Cnot4	G	A	6: 35,001,083 (GRCm39)	T604I	probably benign	Het
Col11a1	C	T	3: 113,896,218 (GRCm39)	T506I	unknown	Het
Cr2	A	C	1: 194,840,718 (GRCm39)		probably null	Het
Ctsm	A	T	13: 61,685,569 (GRCm39)	V281D	probably damaging	Het
Cyp2c69	T	C	19: 39,870,001 (GRCm39)	I74V	probably benign	Het
Dennd4c	T	A	4: 86,717,590 (GRCm39)	V529D	probably damaging	Het
Dlgap3	C	A	4: 127,088,418 (GRCm39)	H5N	possibly damaging	Het
Dusp10	C	A	1: 183,769,617 (GRCm39)	H194Q	probably damaging	Het
Eln	C	G	5: 134,736,429 (GRCm39)	G753A	unknown	Het
Emb	T	A	13: 117,385,962 (GRCm39)	N118K	possibly damaging	Het
Fam184a	C	T	10: 53,531,110 (GRCm39)	V755I	probably benign	Het
Fryl	A	G	5: 73,254,904 (GRCm39)	I846T	possibly damaging	Het
Gabbr2	T	A	4: 46,681,166 (GRCm39)	I722F	probably damaging	Het
Gabrb3	T	A	7: 57,474,171 (GRCm39)	D362E	possibly damaging	Het
Galnt2	G	A	8: 125,061,077 (GRCm39)	G357D	probably damaging	Het
Gbx2	A	T	1: 89,858,373 (GRCm39)	S35R	probably benign	Het
Glg1	A	G	8: 111,924,367 (GRCm39)	I207T	possibly damaging	Het
Gm10192	A	T	4: 97,071,272 (GRCm39)	N44K	unknown	Het
Gpd1	A	G	15: 99,617,984 (GRCm39)	D123G	probably benign	Het
Grm2	A	T	9: 106,531,050 (GRCm39)	D146E	possibly damaging	Het
Gsg1l2	A	G	11: 67,676,032 (GRCm39)	D132G	probably benign	Het
Hecw1	C	T	13: 14,515,425 (GRCm39)	G236R	probably damaging	Het
Hif3a	G	A	7: 16,776,560 (GRCm39)	T462I	possibly damaging	Het
Hspg2	C	T	4: 137,266,714 (GRCm39)	A1934V	probably benign	Het
Il7r	C	T	15: 9,513,117 (GRCm39)	A131T	probably damaging	Het
Itga6	C	T	2: 71,668,680 (GRCm39)	R540*	probably null	Het
Kcnh2	A	G	5: 24,530,490 (GRCm39)		probably null	Het
Kcnq4	C	T	4: 120,573,022 (GRCm39)	A260T	probably damaging	Het
Lrp1b	T	C	2: 40,691,517 (GRCm39)	N3434S		Het
Lrrc41	C	T	4: 115,946,238 (GRCm39)	P318S	probably damaging	Het
Map4	G	A	9: 109,897,892 (GRCm39)	G873R	possibly damaging	Het
Med24	A	G	11: 98,595,787 (GRCm39)	I968T	possibly damaging	Het
Mfap5	T	C	6: 122,503,821 (GRCm39)		probably null	Het
Mtcl1	A	G	17: 66,686,485 (GRCm39)	V807A	probably benign	Het
Mug1	T	A	6: 121,855,467 (GRCm39)	S934T	possibly damaging	Het
Nckap5l	C	A	15: 99,321,127 (GRCm39)	V1218F	probably damaging	Het
Nek1	T	A	8: 61,583,179 (GRCm39)	D1272E	probably benign	Het
Nkx2-4	T	C	2: 146,926,088 (GRCm39)	E258G	probably benign	Het
Polr1a	T	A	6: 71,913,281 (GRCm39)	V545E	probably damaging	Het
Ppp1r9b	A	G	11: 94,882,858 (GRCm39)	D162G	possibly damaging	Het
Rhot2	A	G	17: 26,059,723 (GRCm39)	L367P	probably damaging	Het
Ripk2	A	G	4: 16,155,154 (GRCm39)	F122L	probably benign	Het
Scn11a	T	C	9: 119,588,941 (GRCm39)	T1322A	probably benign	Het
Scn8a	T	A	15: 100,853,358 (GRCm39)	L115Q	probably damaging	Het
Sel1l3	G	T	5: 53,274,462 (GRCm39)	P1006Q	probably damaging	Het
Septin11	A	T	5: 93,304,804 (GRCm39)	N207I	probably damaging	Het
Sez6l2	C	T	7: 126,562,831 (GRCm39)	T669I	probably damaging	Het
Sfxn4	T	A	19: 60,847,112 (GRCm39)	D57V	possibly damaging	Het
Smarca2	T	A	19: 26,617,887 (GRCm39)	V306D	probably benign	Het
Srgap3	C	T	6: 112,712,794 (GRCm39)		probably null	Het
Tas2r134	T	C	2: 51,517,541 (GRCm39)	F7L	not run	Het
Tbcd	T	C	11: 121,383,431 (GRCm39)		probably null	Het
Tcn2	G	A	11: 3,867,703 (GRCm39)	A413V	probably damaging	Het
Tdp1	T	C	12: 99,857,654 (GRCm39)	V71A	probably benign	Het
Tjp1	T	C	7: 64,950,928 (GRCm39)	T1649A	probably damaging	Het
Tnc	T	C	4: 63,935,865 (GRCm39)	E357G	possibly damaging	Het
Tnrc6b	A	G	15: 80,773,327 (GRCm39)	T1158A	probably benign	Het
Ttn	C	A	2: 76,568,952 (GRCm39)	E27314*	probably null	Het
Vps35	G	T	8: 85,997,434 (GRCm39)	T512K	probably benign	Het
Zfp40	A	T	17: 23,396,292 (GRCm39)	S98R	probably benign	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het
Zfp945	A	T	17: 23,070,340 (GRCm39)	C541S	possibly damaging	Het
Zfp976	T	A	7: 42,262,603 (GRCm39)	E412D	probably benign	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
R6943:B4galt1	UTSW	4	40,812,860 (GRCm39)	missense	probably benign	0.00
R7239:B4galt1	UTSW	4	40,812,754 (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'- TAGACCGAGATCACTCCCTTCC -3'
(R):5'- AACTGTCCCCTCTGTAGCTG -3'

Sequencing Primer
(F):5'- ACTTGTGTGCCTGCGTTCTAC -3'
(R):5'- CTGTGGTCTGGTCAGCTAATGC -3'

Posted On

2019-10-07