Mutagenetix > Incidental Mutation

Incidental Mutation 'R6315:B4galt5'

510572

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

044472-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6315 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

167140364-167191103 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 167147729 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 215 (N215K)

Ref Sequence

ENSEMBL: ENSMUSP00000104844 (fasta)

Gene Model

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

AlphaFold

Q9JMK0

Predicted Effect

probably damaging
Transcript: ENSMUST00000109221
AA Change: N215K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000104844
Gene: ENSMUSG00000017929
AA Change: N215K

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

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

97% (64/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 119,945,315 (GRCm39)	Y464H	probably damaging	Het
Ahnak	T	C	19: 8,983,990 (GRCm39)	M1758T	probably damaging	Het
Ak9	A	T	10: 41,282,837 (GRCm39)	D1201V	possibly damaging	Het
Amdhd2	A	C	17: 24,377,330 (GRCm39)	H203Q	probably benign	Het
Ano3	A	G	2: 110,527,384 (GRCm39)	M608T	probably damaging	Het
Arhgef4	G	A	1: 34,762,558 (GRCm39)	A605T	unknown	Het
Atp1a2	C	G	1: 172,116,903 (GRCm39)	R238P	probably damaging	Het
Atp8b1	C	A	18: 64,664,550 (GRCm39)	R1206L	probably damaging	Het
Bpifa1	A	G	2: 153,987,996 (GRCm39)	K180E	possibly damaging	Het
Cadm1	C	T	9: 47,721,417 (GRCm39)	T269M	probably damaging	Het
Cadm3	T	C	1: 173,171,919 (GRCm39)	D252G	probably benign	Het
Ccdc18	A	G	5: 108,309,448 (GRCm39)	R348G	probably benign	Het
Cers4	G	A	8: 4,566,980 (GRCm39)	C94Y	probably benign	Het
Cfap58	G	A	19: 47,929,716 (GRCm39)	R59H	probably benign	Het
Col19a1	C	T	1: 24,565,533 (GRCm39)	G266D	unknown	Het
Col6a5	G	T	9: 105,759,169 (GRCm39)	F2012L	probably damaging	Het
Dnah6	T	C	6: 73,168,588 (GRCm39)	Q445R	probably benign	Het
Dsg3	A	G	18: 20,657,643 (GRCm39)	S238G	probably benign	Het
E130308A19Rik	G	A	4: 59,691,132 (GRCm39)	S322N	probably benign	Het
Eif5b	A	G	1: 38,057,114 (GRCm39)	D57G	unknown	Het
Fbn2	T	C	18: 58,188,025 (GRCm39)		probably null	Het
Fbxo38	A	T	18: 62,669,218 (GRCm39)	C77*	probably null	Het
Fgb	T	A	3: 82,952,362 (GRCm39)	Q169L	probably benign	Het
Fut9	A	T	4: 25,619,774 (GRCm39)	Y347N	probably damaging	Het
Gabrg2	T	C	11: 41,862,688 (GRCm39)	K132R	probably damaging	Het
Gpn3	C	T	5: 122,510,638 (GRCm39)		probably benign	Het
Helz2	A	G	2: 180,874,995 (GRCm39)	L1833P	probably damaging	Het
Hk3	C	T	13: 55,158,970 (GRCm39)	D484N	probably benign	Het
Icam4	T	C	9: 20,941,248 (GRCm39)	V129A	probably damaging	Het
Impdh2	T	C	9: 108,440,638 (GRCm39)	S280P	possibly damaging	Het
Impg1	C	A	9: 80,301,356 (GRCm39)	G267V	probably benign	Het
Iqgap1	C	T	7: 80,449,638 (GRCm39)	V39M	possibly damaging	Het
Lyst	A	G	13: 13,818,089 (GRCm39)	N1253S	probably benign	Het
Mgat4b	T	A	11: 50,122,591 (GRCm39)	V195E	probably damaging	Het
Mrgprb8	C	T	7: 48,038,983 (GRCm39)	T218I	probably damaging	Het
Myrfl	T	G	10: 116,658,724 (GRCm39)	E411A	possibly damaging	Het
Myt1l	T	C	12: 29,877,797 (GRCm39)	S483P	unknown	Het
Neil2	A	G	14: 63,420,920 (GRCm39)	V80A	possibly damaging	Het
Nfe2l2	G	T	2: 75,507,163 (GRCm39)	D312E	probably damaging	Het
Nin	A	T	12: 70,092,389 (GRCm39)	L640Q	probably damaging	Het
Nup205	T	A	6: 35,213,804 (GRCm39)	I1732N	probably damaging	Het
Nup42	T	C	5: 24,372,502 (GRCm39)	S97P	probably damaging	Het
Or5b114-ps1	T	C	19: 13,352,769 (GRCm39)	C148R	unknown	Het
Or5k16	A	C	16: 58,736,609 (GRCm39)	Y132D	probably damaging	Het
Plcb1	A	T	2: 135,188,261 (GRCm39)	T785S	probably benign	Het
Plch1	C	T	3: 63,688,811 (GRCm39)	W131*	probably null	Het
Ppp1r1b	A	G	11: 98,246,216 (GRCm39)	E66G	probably damaging	Het
Ros1	A	T	10: 51,994,306 (GRCm39)	W1325R	probably benign	Het
Sec14l5	A	C	16: 4,998,141 (GRCm39)	E500A	possibly damaging	Het
Sirpb1c	A	G	3: 15,886,470 (GRCm39)	V302A	possibly damaging	Het
Spata19	T	C	9: 27,312,133 (GRCm39)	Y107H	possibly damaging	Het
Sv2a	G	A	3: 96,095,502 (GRCm39)	M298I	probably benign	Het
Tdrd6	A	T	17: 43,937,229 (GRCm39)	M1273K	probably benign	Het
Tectb	A	G	19: 55,179,904 (GRCm39)	H250R	possibly damaging	Het
Trip11	T	G	12: 101,851,837 (GRCm39)	E742D	possibly damaging	Het
Tslp	A	G	18: 32,950,143 (GRCm39)	T71A	probably benign	Het
Usp20	C	T	2: 30,907,770 (GRCm39)	R711C	possibly damaging	Het
Vmn1r181	G	A	7: 23,684,183 (GRCm39)	R216Q	probably benign	Het
Vmn2r8	A	T	5: 108,949,757 (GRCm39)	F363L	probably benign	Het
Vsnl1	T	A	12: 11,382,156 (GRCm39)	N75I	probably damaging	Het
Wdr55	A	T	18: 36,895,122 (GRCm39)	D96V	probably damaging	Het
Wls	T	A	3: 159,640,007 (GRCm39)		probably null	Het
Zc3h13	A	G	14: 75,546,355 (GRCm39)	D152G	probably damaging	Het
Zc3h18	A	G	8: 123,110,604 (GRCm39)	E151G	probably benign	Het
Zfat	A	G	15: 67,956,311 (GRCm39)	S1174P	probably damaging	Het
Zfyve9	T	A	4: 108,531,685 (GRCm39)	T416S	probably damaging	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
R0115:B4galt5	UTSW	2	167,151,154 (GRCm39)	missense	probably damaging	1.00
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
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'- AGCCACTCATCAGCTTAGCC -3'
(R):5'- TCTCTGAAGGAACAAGGCAC -3'

Sequencing Primer
(F):5'- TCATCAGCTTAGCCCGGGC -3'
(R):5'- TGAAGGAACAAGGCACAACCAC -3'

Posted On

2018-04-02