Mutagenetix > Incidental Mutation

Incidental Mutation 'R0115:B4galt5'

20700

Institutional Source

Beutler Lab

Gene Symbol

B4galt5

Ensembl Gene

ENSMUSG00000017929

Gene Name

UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 5

Synonyms

9430078I07Rik

MMRRC Submission

038401-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0115 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

167140364-167191103 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 167151154 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 118 (L118P)

Ref Sequence

ENSEMBL: ENSMUSP00000104844 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109221]

AlphaFold

Q9JMK0

Predicted Effect

probably damaging
Transcript: ENSMUST00000109221
AA Change: L118P

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

SMART Domains

Protein: ENSMUSP00000104844
Gene: ENSMUSG00000017929
AA Change: L118P

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Glyco_transf_7N	114	249	3.1e-57	PFAM
Pfam:Glyco_transf_7C	253	332	1.6e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133557

Predicted Effect

probably benign
Transcript: ENSMUST00000149698

SMART Domains

Protein: ENSMUSP00000118229
Gene: ENSMUSG00000017929

Domain	Start	End	E-Value	Type
SCOP:d1j8wb_	15	86	9e-20	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155623

Meta Mutation Damage Score

0.1287

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.2%
20x: 86.0%

Validation Efficiency

98% (98/100)

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 function of the enzyme encoded by this gene is not clear. This gene was previously designated as B4GALT4 but was renamed to B4GALT5. In the literature it is also referred to as beta4GalT2. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in lethality before weaning. Heterozygous mutant mice exhibit increased anxiety-like response. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921528I07Rik	A	G	9: 114,108,452 (GRCm39)		noncoding transcript	Het
Alas1	A	T	9: 106,115,451 (GRCm39)		probably null	Het
Arf5	A	G	6: 28,426,075 (GRCm39)	Y154C	probably damaging	Het
Arhgap20	T	A	9: 51,750,272 (GRCm39)	I344N	probably damaging	Het
Arhgap30	A	C	1: 171,235,516 (GRCm39)	E630A	possibly damaging	Het
Bdp1	A	G	13: 100,177,962 (GRCm39)	I1969T	probably benign	Het
Bysl	C	T	17: 47,921,867 (GRCm39)	R77Q	probably benign	Het
Cap1	A	T	4: 122,756,868 (GRCm39)	H272Q	possibly damaging	Het
Ccdc146	T	C	5: 21,527,754 (GRCm39)	I187M	possibly damaging	Het
Ccdc192	G	A	18: 57,727,214 (GRCm39)		probably benign	Het
Cdhr18	A	G	14: 13,899,571 (GRCm38)	V117A	probably damaging	Het
Cdk13	C	A	13: 17,894,079 (GRCm39)	A1123S	probably damaging	Het
Ces5a	A	T	8: 94,228,811 (GRCm39)	M473K	probably damaging	Het
Chd8	A	G	14: 52,474,663 (GRCm39)	S123P	probably benign	Het
Cwc22	G	A	2: 77,738,455 (GRCm39)	A497V	probably damaging	Het
Cwh43	T	C	5: 73,575,370 (GRCm39)	S296P	probably damaging	Het
Cyp2c50	T	A	19: 40,080,837 (GRCm39)		probably benign	Het
Dlg1	C	A	16: 31,624,508 (GRCm39)	Y399*	probably null	Het
Drosha	A	T	15: 12,846,216 (GRCm39)	E92D	probably benign	Het
Fanca	C	T	8: 123,995,278 (GRCm39)	G1408D	probably benign	Het
Frem1	T	A	4: 82,854,406 (GRCm39)	D1621V	possibly damaging	Het
Frem2	G	A	3: 53,563,629 (GRCm39)	R293C	probably damaging	Het
Fut8	T	A	12: 77,495,334 (GRCm39)	V308D	probably damaging	Het
Glipr1	A	G	10: 111,829,446 (GRCm39)	I105T	probably benign	Het
Glmn	A	T	5: 107,708,800 (GRCm39)	S385T	probably benign	Het
Gon4l	T	A	3: 88,802,989 (GRCm39)	V1200D	probably damaging	Het
Gpc1	G	A	1: 92,785,221 (GRCm39)	D387N	probably damaging	Het
Gsdmc	A	G	15: 63,675,486 (GRCm39)	Y110H	probably damaging	Het
Gucy1b1	T	A	3: 81,941,698 (GRCm39)	H586L	probably benign	Het
Gucy2e	A	G	11: 69,127,458 (GRCm39)	L5P	unknown	Het
Hectd4	A	G	5: 121,433,569 (GRCm39)		probably benign	Het
Hmcn1	T	A	1: 150,684,398 (GRCm39)	I391F	possibly damaging	Het
Hsf4	A	T	8: 105,999,336 (GRCm39)		probably null	Het
I830077J02Rik	G	A	3: 105,833,886 (GRCm39)	T90M	probably damaging	Het
Ino80	A	T	2: 119,261,497 (GRCm39)	H722Q	probably damaging	Het
Kcnma1	C	A	14: 23,364,243 (GRCm39)	R980L	probably damaging	Het
Kif1a	A	G	1: 92,974,500 (GRCm39)		probably benign	Het
Klhdc7b	A	G	15: 89,272,724 (GRCm39)	H1202R	probably benign	Het
Lig3	A	G	11: 82,684,761 (GRCm39)	D559G	probably damaging	Het
Lyst	T	C	13: 13,852,537 (GRCm39)	V2179A	probably benign	Het
Mab21l4	A	T	1: 93,087,447 (GRCm39)	S135R	possibly damaging	Het
Mansc4	A	G	6: 146,976,725 (GRCm39)	I297T	possibly damaging	Het
Marchf6	A	T	15: 31,475,958 (GRCm39)	F633I	probably benign	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Megf10	G	T	18: 57,392,874 (GRCm39)	V424L	possibly damaging	Het
Mfsd13a	C	T	19: 46,354,943 (GRCm39)	T40I	probably benign	Het
Mib2	A	G	4: 155,740,519 (GRCm39)		probably benign	Het
Mmut	C	T	17: 41,267,118 (GRCm39)	T564M	probably damaging	Het
Myh8	A	G	11: 67,197,090 (GRCm39)		probably benign	Het
Mypn	T	C	10: 63,028,159 (GRCm39)		probably benign	Het
Nf1	G	A	11: 79,359,702 (GRCm39)		probably null	Het
Notch3	T	A	17: 32,352,436 (GRCm39)	T1866S	possibly damaging	Het
Or1e30	A	G	11: 73,678,141 (GRCm39)	I126V	possibly damaging	Het
Or1o11	C	T	17: 37,756,670 (GRCm39)	A86V	probably benign	Het
Or4c102	A	T	2: 88,422,999 (GRCm39)	I284F	probably damaging	Het
Or4k51	T	A	2: 111,584,930 (GRCm39)	M112K	probably damaging	Het
Pkhd1	A	T	1: 20,420,714 (GRCm39)	I2464N	probably damaging	Het
Pkn1	A	G	8: 84,397,658 (GRCm39)	S817P	probably damaging	Het
Prkg2	A	T	5: 99,142,514 (GRCm39)		probably null	Het
Prl8a6	T	C	13: 27,617,084 (GRCm39)	D201G	probably benign	Het
Psmd1	C	T	1: 86,010,993 (GRCm39)	T356I	possibly damaging	Het
Ptk6	G	A	2: 180,844,320 (GRCm39)		probably benign	Het
Ptprn2	T	C	12: 117,175,466 (GRCm39)		probably benign	Het
Rbm42	G	A	7: 30,347,200 (GRCm39)	T106I	probably damaging	Het
Rims4	A	T	2: 163,706,040 (GRCm39)	V198E	probably damaging	Het
Ripk1	T	C	13: 34,193,733 (GRCm39)	S32P	probably damaging	Het
Rorc	T	C	3: 94,284,916 (GRCm39)		probably benign	Het
Rpl22l1	T	C	3: 28,860,685 (GRCm39)	F15L	probably damaging	Het
Slc6a20a	C	A	9: 123,507,823 (GRCm39)	A17S	possibly damaging	Het
Sorcs1	A	G	19: 50,624,891 (GRCm39)		probably benign	Het
Sp100	A	G	1: 85,577,852 (GRCm39)		probably benign	Het
Ssc5d	G	A	7: 4,930,880 (GRCm39)		probably benign	Het
Taf11	A	G	17: 28,126,635 (GRCm39)	L4P	probably benign	Het
Tm2d3	A	G	7: 65,345,082 (GRCm39)		probably benign	Het
Tmub2	T	C	11: 102,179,201 (GRCm39)		probably null	Het
Trim34a	T	A	7: 103,897,109 (GRCm39)	C58S	probably damaging	Het
Trpc3	T	C	3: 36,678,566 (GRCm39)	I840V	probably benign	Het
Trpm6	T	C	19: 18,807,316 (GRCm39)	V1020A	probably damaging	Het
Vmn1r214	T	A	13: 23,219,464 (GRCm39)	Y319*	probably null	Het
Vmn1r59	T	C	7: 5,457,115 (GRCm39)	N215S	probably benign	Het
Vmn2r74	T	C	7: 85,606,564 (GRCm39)	M261V	probably benign	Het
Vmn2r89	T	C	14: 51,693,577 (GRCm39)	F309S	probably damaging	Het
Wdr95	A	T	5: 149,487,855 (GRCm39)	D163V	probably damaging	Het
Xirp2	T	A	2: 67,340,253 (GRCm39)	F831L	possibly damaging	Het
Ythdc2	C	T	18: 44,974,490 (GRCm39)		probably benign	Het

Other mutations in B4galt5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01997:B4galt5	APN	2	167,143,261 (GRCm39)	missense	probably benign	0.17
IGL02573:B4galt5	APN	2	167,146,982 (GRCm39)	missense	probably benign	0.01
IGL03305:B4galt5	APN	2	167,147,703 (GRCm39)	missense	probably damaging	0.96
R0481:B4galt5	UTSW	2	167,151,154 (GRCm39)	missense	probably damaging	1.00
R1989:B4galt5	UTSW	2	167,146,923 (GRCm39)	missense	probably damaging	0.97
R2507:B4galt5	UTSW	2	167,148,558 (GRCm39)	missense	probably benign	0.29
R2508:B4galt5	UTSW	2	167,148,558 (GRCm39)	missense	probably benign	0.29
R5144:B4galt5	UTSW	2	167,148,516 (GRCm39)	missense	possibly damaging	0.95
R5717:B4galt5	UTSW	2	167,148,549 (GRCm39)	missense	probably damaging	0.99
R6315:B4galt5	UTSW	2	167,147,729 (GRCm39)	missense	probably damaging	1.00
R7241:B4galt5	UTSW	2	167,148,617 (GRCm39)	missense	probably damaging	1.00
R7315:B4galt5	UTSW	2	167,143,296 (GRCm39)	missense	probably damaging	1.00
R7677:B4galt5	UTSW	2	167,146,998 (GRCm39)	missense	probably damaging	1.00
R7868:B4galt5	UTSW	2	167,143,340 (GRCm39)	nonsense	probably null
R7995:B4galt5	UTSW	2	167,143,296 (GRCm39)	missense	probably damaging	1.00
R8005:B4galt5	UTSW	2	167,143,384 (GRCm39)	missense	probably damaging	1.00
R8197:B4galt5	UTSW	2	167,144,023 (GRCm39)	missense	probably benign	0.38
R8322:B4galt5	UTSW	2	167,190,849 (GRCm39)	missense	probably benign	0.01
R8371:B4galt5	UTSW	2	167,151,145 (GRCm39)	missense	probably damaging	1.00
R8956:B4galt5	UTSW	2	167,143,260 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACACAGTCAATGCCCAGATCTTTCC -3'
(R):5'- GCTGTAAACTGAGTACCAGAAGCCC -3'

Sequencing Primer
(F):5'- CATGTTATAAGGGTCATTACACGGG -3'
(R):5'- CGGGGTGCCAATTTAAGC -3'

Posted On

2013-04-11