Mutagenetix > Incidental Mutation

Incidental Mutation 'R1851:B3galt4'

208145

Institutional Source

Beutler Lab

Gene Symbol

B3galt4

Ensembl Gene

ENSMUSG00000067370

Gene Name

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

Synonyms

Gal-T2

MMRRC Submission

039875-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.201) question?

Stock #

R1851 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34168886-34170462 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 34169885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 118 (Q118K)

Ref Sequence

ENSEMBL: ENSMUSP00000084823 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008812] [ENSMUST00000025170] [ENSMUST00000025178] [ENSMUST00000087543] [ENSMUST00000174609]

AlphaFold

Q9Z0F0

Predicted Effect

probably benign
Transcript: ENSMUST00000008812

SMART Domains

Protein: ENSMUSP00000008812
Gene: ENSMUSG00000008668

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S13	14	142	2.2e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000025170

SMART Domains

Protein: ENSMUSP00000025170
Gene: ENSMUSG00000024312

Domain	Start	End	E-Value	Type
coiled coil region	126	155	N/A	INTRINSIC
low complexity region	204	217	N/A	INTRINSIC
WD40	225	262	1.02e2	SMART
WD40	267	302	3.3e1	SMART
Blast:WD40	305	344	8e-19	BLAST
WD40	347	386	9.52e-6	SMART
Blast:WD40	392	426	3e-14	BLAST
BING4CT	439	517	8.85e-53	SMART
low complexity region	542	556	N/A	INTRINSIC
low complexity region	586	593	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000025178

SMART Domains

Protein: ENSMUSP00000025178
Gene: ENSMUSG00000024319

Domain	Start	End	E-Value	Type
low complexity region	1	11	N/A	INTRINSIC
low complexity region	24	45	N/A	INTRINSIC
Pfam:Sec3_C	79	244	4.6e-13	PFAM
Pfam:Vps52	94	601	5.1e-233	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000087543
AA Change: Q118K

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000084823
Gene: ENSMUSG00000067370
AA Change: Q118K

Domain	Start	End	E-Value	Type
transmembrane domain	5	24	N/A	INTRINSIC
Pfam:Galactosyl_T	85	302	1.3e-66	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172550

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172799

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173323

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174662

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174175

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174745

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174620

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174758

Predicted Effect

probably benign
Transcript: ENSMUST00000174609

SMART Domains

Protein: ENSMUSP00000138296
Gene: ENSMUSG00000008668

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S13	14	107	2.1e-21	PFAM

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 94.9%
20x: 91.3%

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). This gene is oriented telomere to centromere in close proximity to the ribosomal protein S18 gene. The functionality of the encoded protein is limited to ganglioseries glycolipid biosynthesis. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730507C01Rik	A	G	12: 18,583,687 (GRCm39)	E225G	possibly damaging	Het
Abcb7	T	C	X: 103,349,005 (GRCm39)	M153V	probably benign	Het
Abi1	A	T	2: 22,840,276 (GRCm39)	V329D	possibly damaging	Het
Ablim3	G	A	18: 61,982,466 (GRCm39)	H160Y	probably benign	Het
Acox3	A	T	5: 35,766,406 (GRCm39)	D624V	possibly damaging	Het
Adam6b	A	G	12: 113,455,442 (GRCm39)	D753G	probably benign	Het
Ago1	C	A	4: 126,333,788 (GRCm39)	R771L	probably benign	Het
Aktip	A	G	8: 91,852,505 (GRCm39)	V217A	possibly damaging	Het
Ankk1	A	C	9: 49,327,150 (GRCm39)	H676Q	probably benign	Het
Arl1	G	C	10: 88,569,408 (GRCm39)		probably benign	Het
Asxl3	T	A	18: 22,650,796 (GRCm39)	D928E	probably damaging	Het
AW209491	T	C	13: 14,811,318 (GRCm39)	V57A	possibly damaging	Het
Ccdc187	A	T	2: 26,166,080 (GRCm39)	M783K	probably benign	Het
Cdon	T	G	9: 35,394,454 (GRCm39)	M900R	probably damaging	Het
Ceacam5	G	A	7: 17,448,835 (GRCm39)	W67*	probably null	Het
Chd5	A	G	4: 152,462,727 (GRCm39)	S1356G	probably damaging	Het
Chil3	C	T	3: 106,056,117 (GRCm39)		probably null	Het
Chmp7	C	T	14: 69,956,899 (GRCm39)	M336I	probably benign	Het
Cntn1	C	T	15: 92,203,021 (GRCm39)	R768C	probably damaging	Het
Col6a3	T	A	1: 90,735,256 (GRCm39)	I798F	possibly damaging	Het
Cpxcr1	T	A	X: 115,387,758 (GRCm39)	L223*	probably null	Het
Cpz	C	A	5: 35,659,902 (GRCm39)	R581L	possibly damaging	Het
Cxcr2	A	G	1: 74,198,438 (GRCm39)	I311V	probably benign	Het
Cym	T	A	3: 107,126,030 (GRCm39)	I78F	probably benign	Het
Defb8	A	T	8: 19,495,899 (GRCm39)	S54T	probably benign	Het
Dennd4a	A	G	9: 64,769,312 (GRCm39)	T433A	probably damaging	Het
Dhx29	A	G	13: 113,084,815 (GRCm39)	T678A	probably damaging	Het
Dspp	T	C	5: 104,321,951 (GRCm39)		probably null	Het
Enkur	G	T	2: 21,193,988 (GRCm39)	A195E	probably benign	Het
Ero1b	T	A	13: 12,619,292 (GRCm39)	S429T	possibly damaging	Het
Fh1	A	G	1: 175,435,452 (GRCm39)	S344P	probably damaging	Het
Flnc	G	T	6: 29,443,478 (GRCm39)	G553V	probably damaging	Het
Fmo1	A	T	1: 162,657,554 (GRCm39)	L529*	probably null	Het
Frem1	C	A	4: 82,868,737 (GRCm39)	V1415F	probably damaging	Het
Gatb	T	G	3: 85,526,184 (GRCm39)	L354R	probably damaging	Het
Gdpgp1	A	T	7: 79,888,349 (GRCm39)	N127Y	probably damaging	Het
Gpat2	A	G	2: 127,276,739 (GRCm39)	T648A	possibly damaging	Het
Grk6	C	T	13: 55,599,591 (GRCm39)	R225*	probably null	Het
Hells	A	T	19: 38,948,120 (GRCm39)	Q682L	probably null	Het
Hspa5	T	A	2: 34,664,690 (GRCm39)	N381K	possibly damaging	Het
Ighmbp2	T	C	19: 3,312,075 (GRCm39)	N893S	probably benign	Het
Ipo11	A	T	13: 106,948,765 (GRCm39)	V914E	possibly damaging	Het
Lars1	T	C	18: 42,345,673 (GRCm39)	N1001S	probably benign	Het
Lats2	A	G	14: 57,934,912 (GRCm39)	L606P	probably damaging	Het
Map4k1	T	C	7: 28,699,209 (GRCm39)	Y521H	probably benign	Het
Marchf11	T	A	15: 26,387,916 (GRCm39)	V257E	probably damaging	Het
Med23	G	A	10: 24,786,768 (GRCm39)		probably null	Het
Meltf	A	G	16: 31,715,395 (GRCm39)	D696G	probably benign	Het
Ms4a7	T	A	19: 11,301,788 (GRCm39)	M212L	probably benign	Het
Mx1	A	T	16: 97,249,403 (GRCm39)	L608Q	probably damaging	Het
Myh1	T	C	11: 67,095,224 (GRCm39)	Y195H	probably damaging	Het
Napb	G	T	2: 148,548,909 (GRCm39)	H110Q	probably benign	Het
Ngly1	C	T	14: 16,260,585 (GRCm38)	P90S	probably damaging	Het
Nlrp1b	T	A	11: 71,073,442 (GRCm39)	I134L	possibly damaging	Het
Nup210	A	G	6: 90,993,036 (GRCm39)	L1017P	probably damaging	Het
Nup85	T	A	11: 115,472,643 (GRCm39)	I233N	probably damaging	Het
Obsl1	A	G	1: 75,469,537 (GRCm39)	V965A	probably damaging	Het
Or4c12	A	C	2: 89,774,158 (GRCm39)	Y100*	probably null	Het
Or4f6	T	C	2: 111,839,036 (GRCm39)	D165G	probably benign	Het
Or6c5c	T	C	10: 129,299,370 (GRCm39)	L275P	probably damaging	Het
Pak1ip1	A	G	13: 41,164,708 (GRCm39)	T264A	possibly damaging	Het
Pard6g	C	T	18: 80,160,357 (GRCm39)	R157C	probably damaging	Het
Pcdhb7	A	T	18: 37,475,631 (GRCm39)	T256S	possibly damaging	Het
Phrf1	T	C	7: 140,820,831 (GRCm39)	F153L	probably damaging	Het
Pigw	A	T	11: 84,768,874 (GRCm39)	F152I	probably damaging	Het
Pip4k2c	A	G	10: 127,036,744 (GRCm39)	S222P	probably damaging	Het
Pjvk	A	G	2: 76,487,775 (GRCm39)		probably null	Het
Plxnd1	C	T	6: 115,940,875 (GRCm39)	V1355M	probably damaging	Het
Pramel26	T	C	4: 143,539,396 (GRCm39)	I32M	probably benign	Het
Prss22	G	A	17: 24,215,288 (GRCm39)	P163S	probably damaging	Het
Prune2	A	G	19: 17,176,503 (GRCm39)	I154V	probably damaging	Het
Rapgef6	T	A	11: 54,533,637 (GRCm39)	D362E	probably benign	Het
Retreg2	A	G	1: 75,123,319 (GRCm39)	K416E	probably benign	Het
Scn7a	T	C	2: 66,510,635 (GRCm39)	I1256V	probably benign	Het
Sema4d	A	G	13: 51,865,258 (GRCm39)	V362A	possibly damaging	Het
Septin4	T	A	11: 87,459,741 (GRCm39)	D496E	probably damaging	Het
Slc25a34	G	A	4: 141,349,579 (GRCm39)	T192I	probably benign	Het
Tacc3	G	T	5: 33,825,544 (GRCm39)	V425L	probably benign	Het
Tfdp2	A	T	9: 96,179,762 (GRCm39)	K125I	probably damaging	Het
Tjp2	C	T	19: 24,076,899 (GRCm39)	R952Q	possibly damaging	Het
Tk2	G	T	8: 104,975,077 (GRCm39)	S30*	probably null	Het
Tmem74	A	T	15: 43,730,559 (GRCm39)	D161E	probably benign	Het
Tmprss9	G	A	10: 80,728,119 (GRCm39)	V570M	probably damaging	Het
Tnk2	C	A	16: 32,498,280 (GRCm39)	P26Q	probably damaging	Het
Tnpo2	T	G	8: 85,778,401 (GRCm39)	V610G	probably damaging	Het
Trim37	T	C	11: 87,109,132 (GRCm39)	F953S	probably damaging	Het
U2surp	T	A	9: 95,364,150 (GRCm39)	K589*	probably null	Het
Usp2	G	A	9: 43,987,263 (GRCm39)	R187H	probably benign	Het
Vmn2r1	C	T	3: 64,008,926 (GRCm39)	T535I	probably benign	Het
Wdr20rt	T	A	12: 65,273,925 (GRCm39)	S463T	possibly damaging	Het
Zbtb25	C	A	12: 76,396,488 (GRCm39)	G245W	probably damaging	Het
Zc3h14	T	A	12: 98,726,613 (GRCm39)	L27*	probably null	Het
Zfp2	T	C	11: 50,791,915 (GRCm39)	K43E	probably benign	Het
Zfp268	T	G	4: 145,350,820 (GRCm39)		probably benign	Het
Zfp654	A	G	16: 64,605,491 (GRCm39)	Y904H	probably benign	Het

Other mutations in B3galt4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01545:B3galt4	APN	17	34,170,187 (GRCm39)	missense	probably benign	0.23
IGL02216:B3galt4	APN	17	34,169,539 (GRCm39)	missense	probably damaging	1.00
beacon	UTSW	17	34,169,819 (GRCm39)	missense	probably damaging	1.00
beguiling	UTSW	17	34,169,821 (GRCm39)	missense	probably damaging	1.00
R0326:B3galt4	UTSW	17	34,169,722 (GRCm39)	missense	probably damaging	1.00
R0419:B3galt4	UTSW	17	34,169,764 (GRCm39)	missense	probably damaging	1.00
R0446:B3galt4	UTSW	17	34,169,992 (GRCm39)	missense	probably benign	0.00
R1024:B3galt4	UTSW	17	34,169,813 (GRCm39)	missense	probably damaging	1.00
R1028:B3galt4	UTSW	17	34,169,813 (GRCm39)	missense	probably damaging	1.00
R1412:B3galt4	UTSW	17	34,169,813 (GRCm39)	missense	probably damaging	1.00
R1590:B3galt4	UTSW	17	34,169,813 (GRCm39)	missense	probably damaging	1.00
R1591:B3galt4	UTSW	17	34,169,813 (GRCm39)	missense	probably damaging	1.00
R1681:B3galt4	UTSW	17	34,170,187 (GRCm39)	missense	probably benign	0.23
R1955:B3galt4	UTSW	17	34,169,606 (GRCm39)	nonsense	probably null
R2103:B3galt4	UTSW	17	34,169,813 (GRCm39)	missense	probably damaging	1.00
R5802:B3galt4	UTSW	17	34,169,731 (GRCm39)	missense	probably damaging	1.00
R6922:B3galt4	UTSW	17	34,169,821 (GRCm39)	missense	probably damaging	1.00
R7644:B3galt4	UTSW	17	34,169,419 (GRCm39)	missense	probably damaging	0.99
R8073:B3galt4	UTSW	17	34,169,797 (GRCm39)	missense	probably damaging	1.00
R8687:B3galt4	UTSW	17	34,169,819 (GRCm39)	missense	probably damaging	1.00
R8839:B3galt4	UTSW	17	34,169,867 (GRCm39)	missense	possibly damaging	0.89
R9200:B3galt4	UTSW	17	34,170,384 (GRCm39)	unclassified	probably benign
Z1177:B3galt4	UTSW	17	34,170,110 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTCTGCCATTGCTCCGAAGG -3'
(R):5'- AACTCTCATGCCTGTGGTG -3'

Sequencing Primer
(F):5'- TCTGGGACGTTGACATACAC -3'
(R):5'- CTGTGGTGGCTCCGGAC -3'

Posted On

2014-06-23