Mutagenetix > Incidental Mutation

Incidental Mutation 'R6706:B4galt4'

528959

Institutional Source

Beutler Lab

Gene Symbol

B4galt4

Ensembl Gene

ENSMUSG00000022793

Gene Name

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

Synonyms

9130402O08Rik

MMRRC Submission

044824-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.250) question?

Stock #

R6706 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38562626-38589411 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38578173 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 207 (T207A)

Ref Sequence

ENSEMBL: ENSMUSP00000118593 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023482] [ENSMUST00000114708] [ENSMUST00000114710] [ENSMUST00000114711] [ENSMUST00000114712] [ENSMUST00000154902] [ENSMUST00000231655] [ENSMUST00000232454]

AlphaFold

Q9JJ04

Predicted Effect

probably benign
Transcript: ENSMUST00000023482
AA Change: T207A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000023482
Gene: ENSMUSG00000022793
AA Change: T207A

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:Glyco_transf_7N	77	209	8.4e-63	PFAM
Pfam:Glyco_transf_7C	213	290	1e-30	PFAM
Pfam:Glyco_tranf_2_2	224	289	2.8e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114708

SMART Domains

Protein: ENSMUSP00000110356
Gene: ENSMUSG00000022793

Domain	Start	End	E-Value	Type
SCOP:d1j8wb_	1	71	2e-30	SMART
PDB:2FYD\|D	1	73	3e-12	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000114710

SMART Domains

Protein: ENSMUSP00000110358
Gene: ENSMUSG00000022793

Domain	Start	End	E-Value	Type
SCOP:d1j8wb_	1	71	2e-30	SMART
PDB:2FYD\|D	1	73	3e-12	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000114711

SMART Domains

Protein: ENSMUSP00000110359
Gene: ENSMUSG00000022793

Domain	Start	End	E-Value	Type
SCOP:d1j8wb_	1	71	2e-30	SMART
PDB:2FYD\|D	1	73	3e-12	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000114712
AA Change: T207A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000110360
Gene: ENSMUSG00000022793
AA Change: T207A

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:Glyco_transf_7N	77	211	6.2e-58	PFAM
Pfam:Glyco_transf_7C	213	290	6.9e-31	PFAM
Pfam:Glyco_tranf_2_2	224	289	3.1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154902
AA Change: T207A

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000118593
Gene: ENSMUSG00000022793
AA Change: T207A

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:Glyco_transf_7N	77	211	5.9e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000231655

Predicted Effect

probably benign
Transcript: ENSMUST00000232454

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

97% (36/37)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene appears to mainly play a role in glycolipid biosynthesis. Two alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	T	A	8: 44,104,479 (GRCm39)	K389*	probably null	Het
Adam6a	T	G	12: 113,508,886 (GRCm39)	F420V	probably benign	Het
Alpl	T	C	4: 137,473,740 (GRCm39)	T321A	probably benign	Het
Asxl3	A	G	18: 22,586,666 (GRCm39)	D152G	probably damaging	Het
Bsph2	A	T	7: 13,304,972 (GRCm39)	M1K	probably null	Het
Cacna2d1	T	A	5: 16,531,338 (GRCm39)	L535Q	probably damaging	Het
Cacna2d3	T	C	14: 28,846,642 (GRCm39)		probably null	Het
Chrdl2	T	C	7: 99,659,328 (GRCm39)		probably null	Het
Ctdnep1	A	G	11: 69,875,138 (GRCm39)	N54S	probably benign	Het
Dclre1a	A	T	19: 56,533,501 (GRCm39)	D364E	probably benign	Het
Dock1	A	G	7: 134,735,615 (GRCm39)	I1328V	possibly damaging	Het
Eno4	A	T	19: 58,959,112 (GRCm39)	E411D	probably benign	Het
Fbxl14	A	G	6: 119,457,716 (GRCm39)	Y299C	probably benign	Het
Fhdc1	T	C	3: 84,353,729 (GRCm39)	S499G	probably damaging	Het
Hectd4	C	T	5: 121,458,147 (GRCm39)	T771I	possibly damaging	Het
Kansl3	A	G	1: 36,383,995 (GRCm39)		probably null	Het
Letm2	G	A	8: 26,083,977 (GRCm39)	H85Y	probably benign	Het
Map3k6	A	T	4: 132,978,250 (GRCm39)	K1031*	probably null	Het
Mfsd4b5	T	A	10: 39,862,413 (GRCm39)	T37S	probably benign	Het
Mgam	T	A	6: 40,721,720 (GRCm39)	V346D	probably benign	Het
Myrip	C	T	9: 120,217,359 (GRCm39)	H98Y	possibly damaging	Het
Nos2	A	G	11: 78,835,549 (GRCm39)	N443D	possibly damaging	Het
Notch2	A	T	3: 98,045,746 (GRCm39)	D1637V	possibly damaging	Het
Or4c35	T	A	2: 89,808,929 (GRCm39)	V269E	probably damaging	Het
Or6z6	G	A	7: 6,491,049 (GRCm39)	R275C	probably damaging	Het
Pank1	C	T	19: 34,789,786 (GRCm39)	G530D	probably damaging	Het
Pde4dip	G	T	3: 97,648,709 (GRCm39)	R1036S	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Plin2	T	C	4: 86,578,357 (GRCm39)	T247A	probably benign	Het
Rp1	T	A	1: 4,212,887 (GRCm39)	I1067F	unknown	Het
Serpinb9d	T	A	13: 33,380,541 (GRCm39)	N142K	probably benign	Het
Slc12a5	A	G	2: 164,830,509 (GRCm39)	Y639C	probably damaging	Het
Tfap2c	A	G	2: 172,399,276 (GRCm39)	M508V	probably benign	Het
Tmprss11d	T	C	5: 86,478,962 (GRCm39)	N147S	probably benign	Het
Togaram1	T	A	12: 65,049,383 (GRCm39)	N1273K	probably benign	Het
Ttn	G	A	2: 76,709,687 (GRCm39)	R1581*	probably null	Het
Uggt2	T	A	14: 119,308,293 (GRCm39)	I363F	probably damaging	Het
Vmn2r63	T	A	7: 42,578,001 (GRCm39)	D179V	probably damaging	Het

Other mutations in B4galt4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01356:B4galt4	APN	16	38,574,506 (GRCm39)	missense	probably damaging	1.00
IGL01414:B4galt4	APN	16	38,578,153 (GRCm39)	missense	probably damaging	1.00
R0831:B4galt4	UTSW	16	38,588,341 (GRCm39)	missense	probably benign	0.01
R2125:B4galt4	UTSW	16	38,586,300 (GRCm39)	missense	probably damaging	0.99
R3950:B4galt4	UTSW	16	38,588,384 (GRCm39)	missense	probably benign
R4334:B4galt4	UTSW	16	38,572,621 (GRCm39)	missense	probably damaging	0.99
R4773:B4galt4	UTSW	16	38,572,658 (GRCm39)	missense	probably benign	0.37
R6499:B4galt4	UTSW	16	38,578,184 (GRCm39)	missense	probably benign	0.00
R7208:B4galt4	UTSW	16	38,574,302 (GRCm39)	missense	probably damaging	1.00
R7500:B4galt4	UTSW	16	38,588,376 (GRCm39)	missense	probably damaging	1.00
R7548:B4galt4	UTSW	16	38,574,428 (GRCm39)	missense	probably damaging	1.00
R7792:B4galt4	UTSW	16	38,578,172 (GRCm39)	nonsense	probably null
R8058:B4galt4	UTSW	16	38,586,383 (GRCm39)	critical splice donor site	probably null
R8202:B4galt4	UTSW	16	38,588,274 (GRCm39)	missense	probably benign
R8900:B4galt4	UTSW	16	38,572,404 (GRCm39)	utr 5 prime	probably benign
R9575:B4galt4	UTSW	16	38,583,513 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCCTAGAGTATGTTGTCTTGC -3'
(R):5'- AAGGGAAAATGGGCGTCTTTC -3'

Sequencing Primer
(F):5'- TAACACTCCTAAATGGCGGTG -3'
(R):5'- AATGGGCGTCTTTCCCCATTTC -3'

Posted On

2018-07-24