Mutagenetix > Incidental Mutation

Incidental Mutation 'R5137:B3galnt1'

396192

Institutional Source

Beutler Lab

Gene Symbol

B3galnt1

Ensembl Gene

ENSMUSG00000043300

Gene Name

UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 1

Synonyms

Mbrn 1, Globoside blood group, B3galt3, Brainiac 1

MMRRC Submission

042723-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R5137 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69481491-69506293 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 69482282 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 326 (N326K)

Ref Sequence

ENSEMBL: ENSMUSP00000058363 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061826]

AlphaFold

Q920V1

Predicted Effect

probably benign
Transcript: ENSMUST00000061826
AA Change: N326K

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000058363
Gene: ENSMUSG00000043300
AA Change: N326K

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
Pfam:Galactosyl_T	92	285	4.5e-68	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). The encoded protein of this gene does not use N-acetylglucosamine as an acceptor sugar at all. [provided by RefSeq, Mar 2017]
PHENOTYPE: A homozygous null mutation of this gene results in embryonic lethality. Mice homozygous for a second allele appear normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	C	3: 36,123,920 (GRCm39)	V75A	probably benign	Het
Ace	G	C	11: 105,865,652 (GRCm39)	W628C	probably damaging	Het
Adh4	T	C	3: 138,127,996 (GRCm39)	S141P	probably benign	Het
Apob	T	C	12: 8,061,384 (GRCm39)	Y3256H	possibly damaging	Het
Bltp3a	T	G	17: 28,095,964 (GRCm39)		probably null	Het
Catsperb	T	C	12: 101,516,070 (GRCm39)	F569L	probably damaging	Het
Cecr2	A	G	6: 120,732,478 (GRCm39)	I225V	probably benign	Het
Cox5b	A	G	1: 36,731,510 (GRCm39)		probably null	Het
Crybg1	T	C	10: 43,834,332 (GRCm39)	D1953G	probably damaging	Het
Dnaaf5	C	T	5: 139,167,215 (GRCm39)	T707M	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Ebf1	G	A	11: 44,882,295 (GRCm39)	R409Q	probably damaging	Het
Eef2k	G	A	7: 120,484,645 (GRCm39)	A256T	probably damaging	Het
Eef2k	C	A	7: 120,484,646 (GRCm39)	A256D	probably damaging	Het
Evl	C	G	12: 108,647,781 (GRCm39)	T294S	probably benign	Het
Eya2	T	C	2: 165,573,548 (GRCm39)	Y288H	probably damaging	Het
Ezh2	A	T	6: 47,509,014 (GRCm39)		probably null	Het
Fam171a1	T	C	2: 3,226,426 (GRCm39)	Y395H	probably benign	Het
Gas2l3	C	A	10: 89,249,837 (GRCm39)	R427L	probably damaging	Het
Gli2	T	A	1: 118,783,233 (GRCm39)	I91F	probably damaging	Het
Gm4884	T	C	7: 40,692,318 (GRCm39)	S96P	probably damaging	Het
Gprc5d	T	A	6: 135,093,031 (GRCm39)	D292V	probably benign	Het
Herc1	A	G	9: 66,355,505 (GRCm39)	K2252R	probably benign	Het
Il1rl1	A	T	1: 40,489,285 (GRCm39)	M346L	probably benign	Het
Kcna5	A	T	6: 126,510,946 (GRCm39)	V394D	probably damaging	Het
Kcng4	A	T	8: 120,352,617 (GRCm39)	M431K	possibly damaging	Het
Kifbp	A	T	10: 62,414,020 (GRCm39)	V46E	probably damaging	Het
Large1	A	G	8: 73,774,937 (GRCm39)	F258L	possibly damaging	Het
Mapkbp1	T	A	2: 119,852,662 (GRCm39)	C1001S	probably damaging	Het
Micu1	A	G	10: 59,663,054 (GRCm39)	Q328R	probably benign	Het
Mmp11	G	A	10: 75,761,290 (GRCm39)	P437S	probably damaging	Het
Msh6	T	A	17: 88,287,716 (GRCm39)	F119I	possibly damaging	Het
Myo6	A	G	9: 80,149,531 (GRCm39)	E159G	probably damaging	Het
Negr1	T	A	3: 156,721,833 (GRCm39)	Y136N	probably damaging	Het
Nol9	T	A	4: 152,130,428 (GRCm39)	C321S	probably damaging	Het
Nos1	T	C	5: 118,043,378 (GRCm39)	F551S	probably benign	Het
Nup153	C	A	13: 46,837,629 (GRCm39)	G1198C	probably damaging	Het
Omd	T	C	13: 49,743,552 (GRCm39)	S201P	probably benign	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or1e35	T	C	11: 73,797,452 (GRCm39)	I289V	probably damaging	Het
Or4c120	C	A	2: 89,000,744 (GRCm39)	V271F	probably benign	Het
Or51l14	A	G	7: 103,100,919 (GRCm39)	Y125C	probably damaging	Het
Or51l14	C	A	7: 103,100,920 (GRCm39)	Y125*	probably null	Het
Oxct1	G	T	15: 4,064,832 (GRCm39)	A57S	probably benign	Het
Pcdhga7	T	G	18: 37,850,433 (GRCm39)	S813R	probably damaging	Het
Pcmtd2	A	T	2: 181,496,787 (GRCm39)	I255F	possibly damaging	Het
Pdk1	T	G	2: 71,713,913 (GRCm39)	M186R	possibly damaging	Het
Pelp1	T	C	11: 70,285,925 (GRCm39)	T648A	probably damaging	Het
Phldb2	A	T	16: 45,628,621 (GRCm39)	S570R	possibly damaging	Het
Pramel16	T	A	4: 143,675,690 (GRCm39)	T379S	probably benign	Het
Ptprj	T	C	2: 90,299,992 (GRCm39)	T270A	possibly damaging	Het
Reln	C	T	5: 22,160,179 (GRCm39)	G2130D	probably damaging	Het
Rims1	A	T	1: 22,358,844 (GRCm39)	Y663*	probably null	Het
Rit2	T	C	18: 31,286,817 (GRCm39)	T123A	probably benign	Het
Rmdn2	A	T	17: 79,975,418 (GRCm39)	E302D	probably benign	Het
Ryr1	T	C	7: 28,801,283 (GRCm39)	E827G	possibly damaging	Het
Siglec1	C	T	2: 130,923,264 (GRCm39)	G494R	probably damaging	Het
Slc16a14	T	A	1: 84,890,318 (GRCm39)	Y329F	probably damaging	Het
Slc35d1	A	T	4: 103,071,978 (GRCm39)	L8Q	possibly damaging	Het
Smpdl3a	C	T	10: 57,677,163 (GRCm39)	S57L	possibly damaging	Het
Snx9	T	C	17: 5,978,528 (GRCm39)	V566A	probably damaging	Het
Spaca1	A	T	4: 34,029,095 (GRCm39)	I126N	probably damaging	Het
Spred1	T	G	2: 116,994,052 (GRCm39)	I94S	probably damaging	Het
Tardbp	T	C	4: 148,706,494 (GRCm39)	D105G	possibly damaging	Het
Tet2	T	C	3: 133,182,326 (GRCm39)	S1213G	probably benign	Het
Trak1	A	T	9: 121,196,121 (GRCm39)		probably benign	Het
Trem3	G	A	17: 48,556,756 (GRCm39)	V76M	possibly damaging	Het
Ttc13	G	T	8: 125,421,674 (GRCm39)	Y250*	probably null	Het
Ttll5	T	G	12: 85,969,819 (GRCm39)	S714R	possibly damaging	Het
Ube2l6	T	G	2: 84,633,220 (GRCm39)		probably null	Het
Ubr3	T	C	2: 69,803,679 (GRCm39)	S1090P	probably damaging	Het
Vezt	T	C	10: 93,806,372 (GRCm39)	T680A	probably benign	Het
Virma	A	G	4: 11,546,297 (GRCm39)	K1762E	probably damaging	Het
Vps53	A	G	11: 76,057,074 (GRCm39)	S57P	probably damaging	Het
Vwa7	G	T	17: 35,236,822 (GRCm39)	D130Y	probably damaging	Het
Vwa8	T	G	14: 79,302,342 (GRCm39)	F1004V	probably damaging	Het
Zfp35	A	T	18: 24,137,194 (GRCm39)	K513*	probably null	Het
Zfp384	ACAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGC	6: 125,013,472 (GRCm39)		probably benign	Het
Zfp521	C	A	18: 13,978,505 (GRCm39)	C636F	probably damaging	Het

Other mutations in B3galnt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0101:B3galnt1	UTSW	3	69,483,139 (GRCm39)	missense	probably benign	0.01
R0230:B3galnt1	UTSW	3	69,482,673 (GRCm39)	missense	possibly damaging	0.80
R1580:B3galnt1	UTSW	3	69,483,040 (GRCm39)	missense	possibly damaging	0.95
R1628:B3galnt1	UTSW	3	69,482,961 (GRCm39)	missense	probably damaging	1.00
R1942:B3galnt1	UTSW	3	69,483,258 (GRCm39)	start codon destroyed	probably null	0.90
R6418:B3galnt1	UTSW	3	69,482,326 (GRCm39)	missense	probably damaging	1.00
R6468:B3galnt1	UTSW	3	69,482,866 (GRCm39)	missense	probably damaging	1.00
R6473:B3galnt1	UTSW	3	69,482,673 (GRCm39)	missense	possibly damaging	0.80
R7236:B3galnt1	UTSW	3	69,482,950 (GRCm39)	missense	probably benign	0.36
R7363:B3galnt1	UTSW	3	69,483,157 (GRCm39)	missense	probably damaging	1.00
R7501:B3galnt1	UTSW	3	69,482,632 (GRCm39)	missense	probably benign	0.17
R7819:B3galnt1	UTSW	3	69,483,108 (GRCm39)	missense	probably damaging	1.00
R7911:B3galnt1	UTSW	3	69,482,574 (GRCm39)	missense	probably damaging	1.00
R7999:B3galnt1	UTSW	3	69,482,548 (GRCm39)	missense	probably damaging	0.99
R8954:B3galnt1	UTSW	3	69,482,673 (GRCm39)	missense	possibly damaging	0.80
R8964:B3galnt1	UTSW	3	69,482,589 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCACTAAGTTCAGGCCTTGACTC -3'
(R):5'- CCAGGGTCTACGAGATGATGAG -3'

Sequencing Primer
(F):5'- TCCTGTCTAGGGAGCTCCATGAG -3'
(R):5'- CGTGAAGCCCATCAAGTTTG -3'

Posted On

2016-06-21