Mutagenetix > Incidental Mutation

Incidental Mutation 'R8859:B4galt3'

675499

Institutional Source

Beutler Lab

Gene Symbol

B4galt3

Ensembl Gene

ENSMUSG00000052423

Gene Name

UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 3

Synonyms

9530061M23Rik, R74981, ESTM26, beta4GalT-III

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.364) question?

Stock #

R8859 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

171270328-171276896 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 171271671 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 2 (S2P)

Ref Sequence

ENSEMBL: ENSMUSP00000114560 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064272] [ENSMUST00000111313] [ENSMUST00000126699] [ENSMUST00000141114] [ENSMUST00000141999] [ENSMUST00000151863]

AlphaFold

Q91YY2

Predicted Effect

probably benign
Transcript: ENSMUST00000064272

SMART Domains

Protein: ENSMUSP00000066353
Gene: ENSMUSG00000052423

Domain	Start	End	E-Value	Type
transmembrane domain	12	31	N/A	INTRINSIC
low complexity region	61	77	N/A	INTRINSIC
Pfam:Glyco_transf_7N	79	212	1.7e-59	PFAM
Pfam:Glyco_transf_7C	217	294	6.3e-32	PFAM
low complexity region	348	364	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111313

SMART Domains

Protein: ENSMUSP00000106945
Gene: ENSMUSG00000052423

Domain	Start	End	E-Value	Type
transmembrane domain	12	31	N/A	INTRINSIC
low complexity region	61	77	N/A	INTRINSIC
Pfam:Glyco_transf_7N	79	214	2.1e-74	PFAM
Pfam:Glyco_transf_7C	217	294	1.7e-31	PFAM
Pfam:Glyco_tranf_2_2	238	298	1e-6	PFAM
low complexity region	348	364	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126699

SMART Domains

Protein: ENSMUSP00000141958
Gene: ENSMUSG00000052423

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_7C	1	72	3.2e-28	PFAM
Pfam:Glyco_tranf_2_2	16	76	2.1e-5	PFAM
low complexity region	126	142	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000141114
AA Change: S2P

SMART Domains

Protein: ENSMUSP00000114560
Gene: ENSMUSG00000052423
AA Change: S2P

Domain	Start	End	E-Value	Type
low complexity region	86	102	N/A	INTRINSIC
Pfam:Glyco_transf_7N	104	139	2.6e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141999

SMART Domains

Protein: ENSMUSP00000114926
Gene: ENSMUSG00000052423

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151863

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (95/96)

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. This gene encodes an enzyme that may be mainly involved in the synthesis of the first N-acetyllactosamine unit of poly-N-acetyllactosamine chains. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,378,397	Y3490F		Het
Abcc1	T	C	16: 14,396,361	V167A	probably benign	Het
Abcd2	G	A	15: 91,188,946	R337C	probably damaging	Het
Adcy1	A	G	11: 7,161,877	D914G	probably benign	Het
Ahnak	G	T	19: 9,007,203	L1950F	probably damaging	Het
Alox5ap	T	C	5: 149,265,184		probably null	Het
Ank	C	T	15: 27,562,748	H181Y	possibly damaging	Het
Ankrd44	T	A	1: 54,667,521	D592V	possibly damaging	Het
Ap4m1	T	A	5: 138,175,923	N185K	possibly damaging	Het
Arhgef28	T	A	13: 97,945,702	D1199V	probably damaging	Het
Arnt	T	C	3: 95,490,380		probably null	Het
Atcay	C	T	10: 81,224,464	V13M	probably benign	Het
Bicra	A	T	7: 15,987,812	S593R	possibly damaging	Het
Brsk2	A	C	7: 141,998,678	Q633P	probably damaging	Het
Cacna1c	T	A	6: 118,676,319	S909C		Het
Ccdc7a	G	A	8: 129,061,632	T72M	probably benign	Het
Cct2	A	T	10: 117,060,834	F155I	possibly damaging	Het
Cdv3	G	T	9: 103,356,395	P194T	probably damaging	Het
Cenpc1	A	T	5: 86,012,294	V895E	probably benign	Het
Cep170b	T	C	12: 112,736,447	V448A	probably benign	Het
Chil3	G	A	3: 106,164,124	R75C	possibly damaging	Het
Cnfn	A	T	7: 25,368,444	C24S	probably benign	Het
Cnga3	A	G	1: 37,260,771	K191E	possibly damaging	Het
Col12a1	A	T	9: 79,680,399	Y1153*	probably null	Het
Coq4	C	A	2: 29,795,479	H168Q	probably damaging	Het
Cyr61	T	C	3: 145,648,625	D177G	probably benign	Het
Dnajc14	G	A	10: 128,806,619	V137I	probably benign	Het
Efr3a	T	C	15: 65,854,765	L569P	probably damaging	Het
Epb41l3	A	T	17: 69,284,580	E677D	probably benign	Het
Esp8	G	A	17: 40,530,122	M91I	unknown	Het
Fubp1	A	T	3: 152,232,032		probably benign	Het
Gldc	G	T	19: 30,139,379	A391D	probably damaging	Het
Gm17728	A	G	17: 9,422,195	T46A	probably benign	Het
Gm5798	A	G	14: 41,350,646	K112E	probably damaging	Het
Gm884	A	C	11: 103,615,544	I1866S	unknown	Het
Gpnmb	A	G	6: 49,052,030		probably benign	Het
Grwd1	T	C	7: 45,825,874	T415A	probably benign	Het
Gsdma3	C	G	11: 98,631,260	A172G	possibly damaging	Het
Hltf	C	T	3: 20,065,402	Q204*	probably null	Het
Igf1r	T	G	7: 68,183,463	V457G	possibly damaging	Het
Inhbc	A	T	10: 127,357,115	M344K	probably damaging	Het
Jak3	C	T	8: 71,678,516	A60V	probably benign	Het
Kif13b	A	G	14: 64,742,433	T511A	probably benign	Het
Lama2	T	A	10: 27,459,388	N97I	possibly damaging	Het
Limd2	T	A	11: 106,158,750	D104V	probably damaging	Het
Loxl3	T	A	6: 83,037,545	C145S	probably damaging	Het
Lrrc73	A	G	17: 46,254,529	N62S	probably benign	Het
Lrrtm4	A	G	6: 80,021,887	D94G	probably damaging	Het
Lsm3	C	A	6: 91,522,270	F86L	probably damaging	Het
Map10	T	C	8: 125,670,552	V228A	probably benign	Het
Mcidas	A	C	13: 112,994,130	S54R	possibly damaging	Het
Me3	T	C	7: 89,806,668	Y243H	probably damaging	Het
Mgat4b	A	G	11: 50,230,847	T89A	possibly damaging	Het
Mmp16	T	A	4: 18,054,355		probably benign	Het
Mtmr9	G	A	14: 63,543,777		probably benign	Het
Myo1b	G	T	1: 51,797,039	A331E	probably damaging	Het
Ncoa6	C	T	2: 155,406,468	V1639M	possibly damaging	Het
Nek9	C	T	12: 85,306,346	G752R	probably damaging	Het
Nufip2	A	G	11: 77,693,243	Y661C	probably benign	Het
Olfr1490	T	A	19: 13,654,882	V151E	probably damaging	Het
Olfr354	C	T	2: 36,907,504	A186V	possibly damaging	Het
Olfr574	A	T	7: 102,949,166	I234F	probably damaging	Het
Olfr828	T	C	9: 18,815,696	I199M	possibly damaging	Het
Olfr972	G	A	9: 39,873,598	G108S	probably benign	Het
Oxct2a	A	G	4: 123,322,529	L353S	probably benign	Het
Parvg	A	G	15: 84,337,800	I243V	probably benign	Het
Pcdhgb7	C	A	18: 37,753,296	N506K	possibly damaging	Het
Peg10	T	TCCA	6: 4,756,451		probably benign	Het
Pgghg	G	A	7: 140,945,454		probably null	Het
Phrf1	G	T	7: 141,256,603	G263W	unknown	Het
Ppfia1	A	C	7: 144,479,025		probably null	Het
Ppp1r32	T	A	19: 10,482,235	Y36F	probably damaging	Het
Prss37	T	A	6: 40,514,963	I228F	probably damaging	Het
Ptpro	A	T	6: 137,426,784	K921*	probably null	Het
Rictor	T	G	15: 6,783,586	L940R	probably damaging	Het
Rp1	A	G	1: 4,349,960	S310P	probably benign	Het
Ryr3	A	G	2: 112,653,219	V4091A	probably damaging	Het
Sirt5	T	A	13: 43,370,851	M33K	possibly damaging	Het
Slc25a30	T	A	14: 75,771,477	Y90F	probably benign	Het
St5	T	A	7: 109,524,656	K1132M	probably damaging	Het
Stk11	G	A	10: 80,128,435	D388N	probably benign	Het
Tgm1	C	A	14: 55,712,229	R126L	probably benign	Het
Tmem110	T	A	14: 30,866,672	Y119N	probably damaging	Het
Tmem129	G	T	5: 33,654,493	T321N	probably benign	Het
Tnfrsf11a	A	T	1: 105,844,518		probably null	Het
Tor1aip1	A	G	1: 156,031,444	C195R	probably benign	Het
Tpr	A	G	1: 150,408,846	E428G	possibly damaging	Het
Trps1	T	A	15: 50,822,373	D802V	possibly damaging	Het
Usp17lc	T	A	7: 103,415,109	S6T	probably benign	Het
Vangl1	C	A	3: 102,158,442	R459L		Het
Vmn1r43	T	C	6: 89,869,955	Y183C	probably damaging	Het
Vmn2r110	C	T	17: 20,574,298	C703Y	probably damaging	Het
Vmn2r54	T	C	7: 12,629,775	Q397R	possibly damaging	Het
Vmn2r88	T	C	14: 51,418,806	V824A	probably damaging	Het
Vmn2r89	A	T	14: 51,455,713	Y79F	probably benign	Het
Vnn1	T	C	10: 23,904,586	S491P	probably benign	Het
Zbbx	A	G	3: 75,061,434	F572L	unknown	Het
Zc3h4	A	T	7: 16,435,014	Q1091L	unknown	Het
Zfp503	C	T	14: 21,987,218	V106I	possibly damaging	Het
Zfp874a	T	C	13: 67,442,528	T346A	probably benign	Het

Other mutations in B4galt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02019:B4galt3	APN	1	171271792	missense	probably damaging	1.00
BB004:B4galt3	UTSW	1	171271772	nonsense	probably null
BB014:B4galt3	UTSW	1	171271772	nonsense	probably null
R0026:B4galt3	UTSW	1	171274261	unclassified	probably benign
R0126:B4galt3	UTSW	1	171276165	missense	probably damaging	0.97
R0537:B4galt3	UTSW	1	171274251	unclassified	probably benign
R1478:B4galt3	UTSW	1	171276365	missense	probably benign	0.11
R2012:B4galt3	UTSW	1	171272548	missense	probably damaging	1.00
R2206:B4galt3	UTSW	1	171274043	missense	probably damaging	1.00
R2207:B4galt3	UTSW	1	171274043	missense	probably damaging	1.00
R2223:B4galt3	UTSW	1	171274043	missense	probably damaging	1.00
R2353:B4galt3	UTSW	1	171274043	missense	probably damaging	1.00
R2354:B4galt3	UTSW	1	171274043	missense	probably damaging	1.00
R2438:B4galt3	UTSW	1	171274043	missense	probably damaging	1.00
R2439:B4galt3	UTSW	1	171274043	missense	probably damaging	1.00
R3039:B4galt3	UTSW	1	171274043	missense	probably damaging	1.00
R3051:B4galt3	UTSW	1	171274043	missense	probably damaging	1.00
R3709:B4galt3	UTSW	1	171274043	missense	probably damaging	1.00
R3710:B4galt3	UTSW	1	171274043	missense	probably damaging	1.00
R3741:B4galt3	UTSW	1	171274043	missense	probably damaging	1.00
R3742:B4galt3	UTSW	1	171274043	missense	probably damaging	1.00
R3813:B4galt3	UTSW	1	171274043	missense	probably damaging	1.00
R3953:B4galt3	UTSW	1	171274043	missense	probably damaging	1.00
R4058:B4galt3	UTSW	1	171274043	missense	probably damaging	1.00
R4059:B4galt3	UTSW	1	171274043	missense	probably damaging	1.00
R4323:B4galt3	UTSW	1	171275942	missense	possibly damaging	0.93
R4367:B4galt3	UTSW	1	171274043	missense	probably damaging	1.00
R4368:B4galt3	UTSW	1	171274043	missense	probably damaging	1.00
R4370:B4galt3	UTSW	1	171274043	missense	probably damaging	1.00
R4371:B4galt3	UTSW	1	171274043	missense	probably damaging	1.00
R4486:B4galt3	UTSW	1	171271773	missense	possibly damaging	0.94
R4538:B4galt3	UTSW	1	171272710	missense	probably damaging	1.00
R5557:B4galt3	UTSW	1	171272519	critical splice acceptor site	probably null
R7313:B4galt3	UTSW	1	171272749	missense	probably damaging	1.00
R7927:B4galt3	UTSW	1	171271772	nonsense	probably null
R8222:B4galt3	UTSW	1	171272683	missense	possibly damaging	0.46
R8552:B4galt3	UTSW	1	171274347	missense	possibly damaging	0.70
R8804:B4galt3	UTSW	1	171276374	missense	probably benign	0.33
R9150:B4galt3	UTSW	1	171276326	missense	probably benign
R9265:B4galt3	UTSW	1	171274047	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGATGTAAGCCTTCTTGAGGG -3'
(R):5'- CACTAAGACTTCGGAAGCCC -3'

Sequencing Primer
(F):5'- GCCTTCTTGAGGGTAAAGATACAG -3'
(R):5'- TAAGACTTCGGAAGCCCCCTAG -3'

Posted On

2021-07-15