Mutagenetix > Incidental Mutation

Incidental Mutation 'R9450:B4galt1'

714177

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9450 (G1)

Quality Score

82.0076

Status

Not validated

Chromosome

Chromosomal Location

40804602-40854005 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to T at 40853804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000030121 (fasta)

Gene Model

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

AlphaFold

P15535

Predicted Effect

probably null
Transcript: ENSMUST00000030121
AA Change: M1K

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030121
Gene: ENSMUSG00000028413
AA Change: M1K

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 null
Transcript: ENSMUST00000108096
AA Change: M1K

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103731
Gene: ENSMUSG00000028413
AA Change: M1K

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: 99.7%
20x: 98.9%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
2810004N23Rik	T	C	8: 125,567,215 (GRCm39)	K229E	probably damaging	Het
Abca8b	T	C	11: 109,859,930 (GRCm39)	T523A	probably damaging	Het
Adamts18	G	T	8: 114,490,942 (GRCm39)	D508E	probably benign	Het
Arap2	T	C	5: 62,855,762 (GRCm39)	E558G	probably benign	Het
Arid4a	A	T	12: 71,119,374 (GRCm39)	D331V		Het
Ash1l	A	T	3: 88,915,139 (GRCm39)	K1923M	possibly damaging	Het
Atad2b	T	A	12: 5,063,859 (GRCm39)	S947T	probably benign	Het
Ccpg1	G	A	9: 72,904,703 (GRCm39)	S4N	unknown	Het
Cfap43	A	T	19: 47,886,310 (GRCm39)	L102M	probably benign	Het
Clic6	T	C	16: 92,327,644 (GRCm39)	I483T	possibly damaging	Het
Col6a6	A	T	9: 105,661,373 (GRCm39)	D245E	probably benign	Het
Cpsf7	G	A	19: 10,518,213 (GRCm39)		probably null	Het
Depdc5	A	G	5: 33,091,354 (GRCm39)	D721G	probably benign	Het
Dhx29	C	T	13: 113,083,862 (GRCm39)	T639I	possibly damaging	Het
Dock7	T	C	4: 98,861,426 (GRCm39)	E1397G	unknown	Het
Dsp	C	T	13: 38,376,379 (GRCm39)	T1388M	probably damaging	Het
Fam186b	C	T	15: 99,183,425 (GRCm39)	G73D	probably damaging	Het
Ganab	A	G	19: 8,893,076 (GRCm39)	D960G	probably damaging	Het
Gria1	T	C	11: 57,200,615 (GRCm39)	V764A	probably damaging	Het
Grk3	T	C	5: 113,062,913 (GRCm39)	K645E	probably benign	Het
Hecw2	A	T	1: 53,878,188 (GRCm39)	Y1339*	probably null	Het
Hmcn2	C	A	2: 31,316,845 (GRCm39)	T3808N	probably damaging	Het
Il20rb	A	T	9: 100,355,055 (GRCm39)	N129K	possibly damaging	Het
Iqca1l	T	A	5: 24,754,447 (GRCm39)	I395F	probably benign	Het
Itgb4	T	C	11: 115,874,097 (GRCm39)	Y340H	probably damaging	Het
Itgb6	T	C	2: 60,458,372 (GRCm39)	I460M	probably benign	Het
Kat14	T	C	2: 144,242,739 (GRCm39)	I599T	possibly damaging	Het
Kif1b	A	C	4: 149,322,467 (GRCm39)	D817E	probably benign	Het
Lamb2	T	A	9: 108,357,760 (GRCm39)	C94*	probably null	Het
Larp1	T	C	11: 57,941,890 (GRCm39)	S743P	probably damaging	Het
Ldlrap1	T	C	4: 134,474,490 (GRCm39)	N267S	probably damaging	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Ltf	T	C	9: 110,851,064 (GRCm39)	L92P	probably damaging	Het
Ly6g2	T	A	15: 75,092,574 (GRCm39)	C98S	probably damaging	Het
Mns1	C	A	9: 72,359,890 (GRCm39)	Q347K	probably benign	Het
Myof	A	T	19: 37,949,374 (GRCm39)	F611I	probably damaging	Het
Nop56	T	C	2: 130,117,601 (GRCm39)	L76P	probably damaging	Het
Nphp1	T	C	2: 127,616,008 (GRCm39)	H114R		Het
Or10g3	G	C	14: 52,610,110 (GRCm39)	Y133*	probably null	Het
Or1e30	C	A	11: 73,678,101 (GRCm39)	N112K	possibly damaging	Het
Or4k36	T	A	2: 111,146,398 (GRCm39)	N191K	probably benign	Het
Pcdha12	A	G	18: 37,153,992 (GRCm39)	D237G	probably damaging	Het
Pierce1	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,356,122 (GRCm39)		probably benign	Het
Pitpnm3	A	T	11: 71,952,412 (GRCm39)	M593K	possibly damaging	Het
Plxdc1	C	T	11: 97,845,681 (GRCm39)	V211I	probably damaging	Het
Prkn	C	A	17: 12,057,521 (GRCm39)	H301N	possibly damaging	Het
Prpf38a	A	T	4: 108,430,072 (GRCm39)	H143Q	probably damaging	Het
Sdk2	T	C	11: 113,697,105 (GRCm39)	T1769A	probably benign	Het
Spata31f1e	G	T	4: 42,793,833 (GRCm39)	Q100K	probably benign	Het
Stab1	T	C	14: 30,884,896 (GRCm39)	D153G	possibly damaging	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tnrc6b	T	A	15: 80,764,637 (GRCm39)	M713K	probably benign	Het
Top2a	T	C	11: 98,894,434 (GRCm39)	K966E	possibly damaging	Het
Vars2	T	C	17: 35,973,027 (GRCm39)	T421A	probably damaging	Het
Vmn1r1	A	T	1: 181,984,770 (GRCm39)	C298*	probably null	Het
Vps35l	T	C	7: 118,352,118 (GRCm39)		probably null	Het
Vwa3a	T	C	7: 120,403,253 (GRCm39)		probably null	Het
Vwa5b1	G	T	4: 138,315,940 (GRCm39)	Q601K	possibly damaging	Het
Zbtb46	T	C	2: 181,037,281 (GRCm39)	K454E	probably damaging	Het
Zfp426	T	C	9: 20,381,577 (GRCm39)	H470R	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
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
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'- ACGAAGACAAGTTGCTCTTCAAG -3'
(R):5'- GCTGATCTCTCCAAAGTCCC -3'

Sequencing Primer
(F):5'- CTTCGGGGAGACGCCTAAAG -3'
(R):5'- TCTCCAAAGTCCCGCGGC -3'

Posted On

2022-06-15