Mutagenetix > Incidental Mutation

Incidental Mutation 'R5717:B4galt5'

451205

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

043337-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5717 (G1)

Quality Score

207

Status

Validated

Chromosome

Chromosomal Location

167140364-167191103 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 167148549 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 190 (R190C)

Ref Sequence

ENSEMBL: ENSMUSP00000104844 (fasta)

Gene Model

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

AlphaFold

Q9JMK0

Predicted Effect

probably damaging
Transcript: ENSMUST00000109221
AA Change: R190C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104844
Gene: ENSMUSG00000017929
AA Change: R190C

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

0.7203

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

98% (48/49)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933411K16Rik	A	T	19: 42,041,484 (GRCm39)	H205L	probably benign	Het
Acss2	T	C	2: 155,403,073 (GRCm39)	L617S	probably damaging	Het
Adgrl4	T	C	3: 151,197,971 (GRCm39)	V77A	probably benign	Het
Adnp2	A	G	18: 80,171,479 (GRCm39)	S977P	probably benign	Het
Ankrd11	T	C	8: 123,619,377 (GRCm39)	K1492E	possibly damaging	Het
Bbs1	A	G	19: 4,947,354 (GRCm39)	V355A	possibly damaging	Het
Cenpj	GTTTT	GTTTTT	14: 56,790,978 (GRCm39)		probably null	Het
Ckap2	T	C	8: 22,665,063 (GRCm39)	E467G	probably damaging	Het
Cry1	A	T	10: 84,982,280 (GRCm39)	H355Q	probably damaging	Het
Cspg4	G	T	9: 56,793,082 (GRCm39)	M272I	probably benign	Het
Dicer1	T	A	12: 104,671,387 (GRCm39)	Y961F	probably damaging	Het
Epha2	A	T	4: 141,049,382 (GRCm39)	M689L	probably benign	Het
Foxc1	C	T	13: 31,991,471 (GRCm39)	A94V	probably benign	Het
Fras1	T	C	5: 96,929,596 (GRCm39)	V4000A	possibly damaging	Het
Frmd8	G	T	19: 5,923,396 (GRCm39)		probably benign	Het
Gm5218	A	G	15: 81,383,478 (GRCm39)		noncoding transcript	Het
Gm7735	T	C	16: 88,966,430 (GRCm39)	L18P	unknown	Het
Hr	C	T	14: 70,803,616 (GRCm39)	T808I	probably benign	Het
Hyal6	T	C	6: 24,743,690 (GRCm39)	M462T	probably benign	Het
Igkv6-20	T	A	6: 70,313,412 (GRCm39)		probably benign	Het
Igkv8-27	T	A	6: 70,148,918 (GRCm39)	T59S	probably benign	Het
Itga11	A	G	9: 62,659,531 (GRCm39)	T428A	probably benign	Het
Klk1b16	A	G	7: 43,788,913 (GRCm39)	I49V	probably benign	Het
Matn2	G	T	15: 34,399,237 (GRCm39)	E375*	probably null	Het
Msgn1	T	C	12: 11,258,519 (GRCm39)	Y144C	probably damaging	Het
Myh1	A	G	11: 67,099,782 (GRCm39)	N564S	probably benign	Het
Mypn	A	G	10: 62,963,555 (GRCm39)	V972A	probably damaging	Het
Or4c29	T	C	2: 88,740,366 (GRCm39)	I124V	possibly damaging	Het
Or5an11	A	G	19: 12,246,520 (GRCm39)	K309E	probably benign	Het
Or8s5	G	A	15: 98,238,246 (GRCm39)	A208V	probably benign	Het
Ppp2r5d	A	G	17: 46,998,820 (GRCm39)	S81P	probably damaging	Het
Ptgis	C	T	2: 167,050,284 (GRCm39)		probably benign	Het
Ptprr	A	G	10: 115,884,018 (GRCm39)	N25S	probably benign	Het
Rnf123	G	A	9: 107,944,623 (GRCm39)	T456I	probably damaging	Het
Rpl6l	T	C	10: 110,961,884 (GRCm39)		noncoding transcript	Het
Rps25	A	G	9: 44,320,047 (GRCm39)	Y23C	probably benign	Het
Sec24a	A	G	11: 51,598,037 (GRCm39)	V879A	probably benign	Het
Sema6a	G	A	18: 47,382,330 (GRCm39)	A739V	probably benign	Het
Senp6	A	T	9: 79,999,594 (GRCm39)	I4F	probably damaging	Het
Slc49a4	A	G	16: 35,539,799 (GRCm39)	F341L	probably benign	Het
Stoml3	A	T	3: 53,412,937 (GRCm39)	Q197L	probably damaging	Het
Ttn	T	A	2: 76,578,091 (GRCm39)	K24267N	probably damaging	Het
Vmn1r43	T	C	6: 89,846,905 (GRCm39)	S194G	probably damaging	Het
Vmn2r17	C	T	5: 109,575,140 (GRCm39)	T149I	possibly damaging	Het
Wdr72	T	A	9: 74,055,487 (GRCm39)	Y239N	probably damaging	Het
Zfp423	A	T	8: 88,413,187 (GRCm39)		probably null	Het
Zfp759	T	A	13: 67,286,772 (GRCm39)	C114S	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
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'- CACATACTCAGGAGAGGCAC -3'
(R):5'- GTTGCACATCCAGGAGTACAC -3'

Sequencing Primer
(F):5'- CACAGGAATGTGCTGATTGTCAACC -3'
(R):5'- CCAGGAGTACACAACTTTGTAGTG -3'

Posted On

2017-01-03