Mutagenetix > Incidental Mutation

Incidental Mutation 'R7677:B4galt5'

592490

Institutional Source

Beutler Lab

Gene Symbol

B4galt5

Ensembl Gene

ENSMUSG00000017929

Gene Name

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

Synonyms

9430078I07Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7677 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

167140364-167191103 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 167146998 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 279 (T279A)

Ref Sequence

ENSEMBL: ENSMUSP00000104844 (fasta)

Gene Model

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

AlphaFold

Q9JMK0

Predicted Effect

probably damaging
Transcript: ENSMUST00000109221
AA Change: T279A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000104844
Gene: ENSMUSG00000017929
AA Change: T279A

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

probably benign
Transcript: ENSMUST00000149698

SMART Domains

Protein: ENSMUSP00000118229
Gene: ENSMUSG00000017929

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,248,349 (GRCm39)	R2699*	probably null	Het
Adra2a	G	A	19: 54,035,375 (GRCm39)	V244M	probably damaging	Het
Apba2	A	G	7: 64,344,845 (GRCm39)	S12G	probably benign	Het
Arhgap20	T	A	9: 51,751,698 (GRCm39)	M383K	probably damaging	Het
Armc12	T	C	17: 28,756,865 (GRCm39)	V210A	probably benign	Het
Ash1l	A	T	3: 88,950,500 (GRCm39)	H2131L	probably damaging	Het
Atg5	T	C	10: 44,223,035 (GRCm39)	L219P	probably damaging	Het
Atp2c2	A	T	8: 120,474,915 (GRCm39)	M507L	probably benign	Het
Atr	T	A	9: 95,767,515 (GRCm39)	L1191I	probably damaging	Het
Bglap2	T	C	3: 88,285,280 (GRCm39)	E62G	probably damaging	Het
Card6	A	G	15: 5,127,926 (GRCm39)	S1157P	unknown	Het
Ccdc17	T	C	4: 116,454,962 (GRCm39)		probably null	Het
Cdc6	T	A	11: 98,810,191 (GRCm39)	L500*	probably null	Het
Dst	G	T	1: 34,208,403 (GRCm39)		probably null	Het
Fbxw7	C	T	3: 84,811,373 (GRCm39)	T166I		Het
Fer1l6	T	C	15: 58,474,139 (GRCm39)	V955A	probably benign	Het
Fezf2	T	C	14: 12,344,941 (GRCm38)	E82G	probably benign	Het
Flii	T	C	11: 60,610,971 (GRCm39)	D486G	probably damaging	Het
Fndc3a	T	C	14: 72,804,854 (GRCm39)	T476A	probably benign	Het
Gbp3	C	T	3: 142,266,264 (GRCm39)		probably benign	Het
Hebp2	T	C	10: 18,421,547 (GRCm39)		probably benign	Het
Hhipl2	T	A	1: 183,204,951 (GRCm39)	M88K	possibly damaging	Het
Hip1	A	G	5: 135,459,171 (GRCm39)	C605R	probably benign	Het
Hoxd13	T	C	2: 74,498,909 (GRCm39)	S86P	probably benign	Het
Hspa12a	G	T	19: 58,849,317 (GRCm39)	A2E	probably benign	Het
Il1rl1	A	C	1: 40,485,864 (GRCm39)	*338C	probably null	Het
Lrrc37a	G	T	11: 103,390,464 (GRCm39)	P1654T	probably benign	Het
Mybpc3	A	T	2: 90,959,376 (GRCm39)	D704V	probably benign	Het
Napsa	A	T	7: 44,231,130 (GRCm39)	K120*	probably null	Het
Nat3	A	C	8: 68,000,139 (GRCm39)	Y6S	probably damaging	Het
Negr1	C	T	3: 156,774,823 (GRCm39)	Q180*	probably null	Het
Nynrin	T	A	14: 56,107,693 (GRCm39)	D933E	probably benign	Het
Or10al3	T	A	17: 38,011,957 (GRCm39)	I132K	probably damaging	Het
Or10c1	A	T	17: 37,522,386 (GRCm39)	Y119*	probably null	Het
Or2l5	G	A	16: 19,333,678 (GRCm39)	A236V	probably benign	Het
Or6k2	A	T	1: 173,986,614 (GRCm39)	I92F	probably damaging	Het
Or8b1c	T	A	9: 38,384,831 (GRCm39)	S263T	possibly damaging	Het
Or8c16	T	A	9: 38,130,324 (GRCm39)	N65K	probably damaging	Het
Or9s23	C	T	1: 92,500,983 (GRCm39)	T30I	not run	Het
Pbx1	A	T	1: 168,030,995 (GRCm39)	F208I	probably damaging	Het
Pcdha11	T	C	18: 37,144,605 (GRCm39)	V232A	probably damaging	Het
Pcsk5	A	G	19: 17,558,593 (GRCm39)	Y605H	possibly damaging	Het
Pde3a	T	A	6: 141,195,983 (GRCm39)	L223Q	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pitpnm2	G	A	5: 124,261,632 (GRCm39)	R977C	probably damaging	Het
Pkdrej	A	C	15: 85,699,788 (GRCm39)	D2049E	probably benign	Het
Psmd6	T	C	14: 14,120,837 (GRCm38)	D16G	probably benign	Het
Pth2r	C	A	1: 65,427,605 (GRCm39)	T426N	probably benign	Het
Ralgapa1	G	T	12: 55,705,928 (GRCm39)	L1865M	probably damaging	Het
Ryr3	T	A	2: 112,664,245 (GRCm39)	Q1702L	probably benign	Het
Sars2	A	G	7: 28,446,176 (GRCm39)	Y135C	probably benign	Het
Sdha	G	A	13: 74,481,172 (GRCm39)	R345*	probably null	Het
Selp	A	T	1: 163,961,525 (GRCm39)	S413C	probably damaging	Het
Sirt2	G	A	7: 28,484,835 (GRCm39)	C221Y	probably damaging	Het
Skic2	A	T	17: 35,067,140 (GRCm39)	S100T	probably benign	Het
Socs7	C	A	11: 97,280,468 (GRCm39)	Q566K	probably benign	Het
Spdye4c	G	A	2: 128,436,056 (GRCm39)	V151M	probably benign	Het
Srcap	A	G	7: 127,158,980 (GRCm39)	D2952G	unknown	Het
Srd5a2	A	T	17: 74,354,749 (GRCm39)	L25Q	probably damaging	Het
Srrt	A	T	5: 137,298,410 (GRCm39)	V254D	probably damaging	Het
Tap2	T	C	17: 34,424,494 (GRCm39)	F76L	probably benign	Het
Tdpoz4	T	A	3: 93,704,815 (GRCm39)	*371R	probably null	Het
Tm9sf3	A	T	19: 41,209,743 (GRCm39)	F441I	probably damaging	Het
Tmem259	C	T	10: 79,814,414 (GRCm39)	R314Q	probably damaging	Het
Trim28	G	T	7: 12,762,040 (GRCm39)	R312L	possibly damaging	Het
Tsc1	A	G	2: 28,562,829 (GRCm39)	T393A	probably benign	Het
Txndc11	CCCGCCGCCGCCGCCGC	CCCGCCGCCGCCGC	16: 10,952,338 (GRCm39)		probably benign	Het
Ube2v2	T	C	16: 15,398,964 (GRCm39)	T42A	probably benign	Het
Vmn2r-ps158	A	C	7: 42,674,163 (GRCm39)	H414P	probably damaging	Het
Zfp609	A	T	9: 65,604,456 (GRCm39)	S1342R	possibly damaging	Het
Zg16	A	T	7: 126,649,763 (GRCm39)	V66E	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
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
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'- TTTCCAACATGGCTGCAAGG -3'
(R):5'- CTGAACTCTGATTGTGACCTTGG -3'

Sequencing Primer
(F):5'- AAAGTGACCGTGTGGCTC -3'
(R):5'- ACTCTGATTGTGACCTTGGTTGGAC -3'

Posted On

2019-11-12