Mutagenetix > Incidental Mutation

Incidental Mutation 'R1024:B3galt4'

94827

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

039126-MU

Accession Numbers

Essential gene?

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

Stock #

R1024 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34168886-34170462 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34169813 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 142 (R142C)

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 damaging
Transcript: ENSMUST00000087543
AA Change: R142C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000084823
Gene: ENSMUSG00000067370
AA Change: R142C

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: ENSMUST00000174620

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174662

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174758

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174745

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174175

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

Meta Mutation Damage Score

0.4813

Coding Region Coverage

1x: 99.5%
3x: 98.4%
10x: 95.6%
20x: 90.2%

Validation Efficiency

90% (36/40)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	T	C	7: 75,327,157 (GRCm39)	S719P	probably damaging	Het
Atxn2l	A	T	7: 126,096,466 (GRCm39)	N425K	probably benign	Het
Cacna2d2	T	C	9: 107,404,249 (GRCm39)		probably null	Het
Ccar2	A	G	14: 70,377,964 (GRCm39)	S674P	probably damaging	Het
Ccm2	T	A	11: 6,520,119 (GRCm39)	Y56*	probably null	Het
Cdc14b	A	T	13: 64,363,490 (GRCm39)	V257E	probably damaging	Het
Cdca8	A	C	4: 124,815,798 (GRCm39)	S171R	probably benign	Het
Cep192	C	T	18: 67,971,125 (GRCm39)	T1042I	probably benign	Het
Cfap100	T	A	6: 90,389,986 (GRCm39)	T101S	possibly damaging	Het
Cfap46	T	A	7: 139,222,513 (GRCm39)	M1155L	probably benign	Het
Cyp3a13	T	A	5: 137,892,626 (GRCm39)	I473F	possibly damaging	Het
Dclk3	A	G	9: 111,298,138 (GRCm39)	I561V	possibly damaging	Het
Dock6	A	T	9: 21,744,908 (GRCm39)	L556H	probably damaging	Het
Dqx1	G	A	6: 83,038,070 (GRCm39)	C486Y	probably damaging	Het
Drd1	T	A	13: 54,207,333 (GRCm39)	M294L	probably benign	Het
Dsel	A	G	1: 111,788,403 (GRCm39)	S711P	probably damaging	Het
Fcho2	A	T	13: 98,869,167 (GRCm39)	I568N	probably damaging	Het
Folr1	A	G	7: 101,507,810 (GRCm39)	M210T	probably damaging	Het
Gatc	T	A	5: 115,478,904 (GRCm39)		probably null	Het
Gja8	A	T	3: 96,826,740 (GRCm39)	F307L	probably benign	Het
H1f7	G	A	15: 98,154,636 (GRCm39)	T171I	unknown	Het
Hnrnpd	C	A	5: 100,114,016 (GRCm39)	*87L	probably null	Het
Hpd	C	T	5: 123,312,532 (GRCm39)	R279H	possibly damaging	Het
Igfals	G	A	17: 25,099,457 (GRCm39)	V183M	probably damaging	Het
Izumo1	A	G	7: 45,276,598 (GRCm39)	Y387C	probably benign	Het
Kdm5a	A	G	6: 120,375,999 (GRCm39)	N585S	probably null	Het
Marchf2	C	A	17: 33,928,762 (GRCm39)	G45C	probably damaging	Het
Myo15a	A	T	11: 60,370,442 (GRCm39)	R1067S	probably benign	Het
Naip2	T	C	13: 100,298,362 (GRCm39)	E558G	probably benign	Het
Naip2	C	T	13: 100,298,368 (GRCm39)	G556D	probably benign	Het
Nell1	A	G	7: 49,770,411 (GRCm39)	S157G	probably damaging	Het
Nf1	A	T	11: 79,437,859 (GRCm39)	E2072D	probably damaging	Het
Nipal1	CGGG	CGG	5: 72,825,334 (GRCm39)		probably null	Het
Nop2	T	A	6: 125,114,149 (GRCm39)	V205E	probably benign	Het
Nphs1	G	T	7: 30,173,702 (GRCm39)	S939I	probably damaging	Het
Nudt8	T	A	19: 4,051,925 (GRCm39)	W179R	probably damaging	Het
Nutm1	A	T	2: 112,080,274 (GRCm39)	I547N	probably benign	Het
Oog2	A	C	4: 143,922,856 (GRCm39)	T374P	probably damaging	Het
Or4k5	A	T	14: 50,385,384 (GRCm39)	F316I	probably benign	Het
Or8b54	C	A	9: 38,686,631 (GRCm39)	L27I	probably damaging	Het
Otud4	T	A	8: 80,390,722 (GRCm39)	M413K	probably benign	Het
Pear1	A	G	3: 87,667,606 (GRCm39)		probably benign	Het
Pla2g3	G	A	11: 3,438,551 (GRCm39)	C67Y	probably damaging	Het
Plxdc2	A	G	2: 16,716,917 (GRCm39)	T334A	probably benign	Het
Ppl	G	A	16: 4,917,864 (GRCm39)	R543W	probably damaging	Het
Prl5a1	G	A	13: 28,333,880 (GRCm39)	V128I	probably damaging	Het
Pth1r	A	T	9: 110,571,295 (GRCm39)	L25Q	probably damaging	Het
Pth1r	T	C	9: 110,558,689 (GRCm39)	D96G	probably benign	Het
Rfpl4	G	T	7: 5,113,517 (GRCm39)	D215E	probably damaging	Het
Rnf146	T	A	10: 29,223,092 (GRCm39)	R265*	probably null	Het
Rpe65	T	C	3: 159,312,122 (GRCm39)	I207T	probably benign	Het
Rptn	A	G	3: 93,305,532 (GRCm39)	E955G	possibly damaging	Het
Rwdd2b	A	T	16: 87,233,738 (GRCm39)	C121S	probably damaging	Het
Scn10a	A	G	9: 119,438,340 (GRCm39)	I1843T	probably damaging	Het
Sirt5	A	G	13: 43,524,245 (GRCm39)	I6V	probably benign	Het
Slc25a36	A	G	9: 96,961,254 (GRCm39)	Y261H	probably damaging	Het
Slc5a3	G	A	16: 91,874,383 (GRCm39)	A147T	probably damaging	Het
Stk39	T	C	2: 68,240,390 (GRCm39)	S114G	probably damaging	Het
Stxbp1	T	C	2: 32,704,979 (GRCm39)		probably null	Het
Syt3	G	T	7: 44,040,106 (GRCm39)	G113V	probably damaging	Het
Tatdn2	A	G	6: 113,686,506 (GRCm39)	T644A	probably damaging	Het
Trim9	T	A	12: 70,298,791 (GRCm39)		probably null	Het
Tut1	A	G	19: 8,936,719 (GRCm39)	N181S	probably benign	Het
Vill	T	C	9: 118,895,892 (GRCm39)	S151P	probably damaging	Het
Vmn2r90	A	T	17: 17,948,400 (GRCm39)	I549F	probably damaging	Het
Wdfy4	T	C	14: 32,801,923 (GRCm39)	T1912A	possibly damaging	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
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
R1851:B3galt4	UTSW	17	34,169,885 (GRCm39)	missense	probably benign	0.26
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'- CCTGCCTAAATACAGAAGGGGCAC -3'
(R):5'- AGAGAAACGCCATTCGGGCATC -3'

Sequencing Primer
(F):5'- AGAAGGGGCACTGCCTG -3'
(R):5'- TCTTGGGGTGCCATCCG -3'

Posted On

2014-01-05