Mutagenetix > Incidental Mutation

Incidental Mutation 'R8125:B4galnt3'

631699

Institutional Source

Beutler Lab

Gene Symbol

B4galnt3

Ensembl Gene

ENSMUSG00000041372

Gene Name

beta-1,4-N-acetyl-galactosaminyl transferase 3

Synonyms

MMRRC Submission

067554-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R8125 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120180034-120271520 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120201554 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 164 (T164A)

Ref Sequence

ENSEMBL: ENSMUSP00000058253 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057283] [ENSMUST00000212457]

AlphaFold

Q6L8S8

Predicted Effect

probably damaging
Transcript: ENSMUST00000057283
AA Change: T164A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000058253
Gene: ENSMUSG00000041372
AA Change: T164A

Domain	Start	End	E-Value	Type
transmembrane domain	25	47	N/A	INTRINSIC
PA14	129	276	1.16e-21	SMART
low complexity region	591	612	N/A	INTRINSIC
Pfam:CHGN	650	985	3.9e-29	PFAM
Pfam:Glyco_transf_7C	896	974	3.3e-14	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212457
AA Change: T164A

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.9%
20x: 97.0%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] B4GALNT3 transfers N-acetylgalactosamine (GalNAc) onto glucosyl residues to form N,N-prime-diacetyllactosediamine (LacdiNAc, or LDN), a unique terminal structure of cell surface N-glycans (Ikehara et al., 2006 [PubMed 16728562]).[supplied by OMIM, Aug 2008]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	C	A	18: 24,608,709 (GRCm39)	T143K	probably benign	Het
4933434E20Rik	T	A	3: 89,972,818 (GRCm39)	V74D	possibly damaging	Het
Acot11	C	T	4: 106,617,277 (GRCm39)		probably null	Het
Adam20	A	T	8: 41,247,973 (GRCm39)	I28L	probably benign	Het
Adamtsl3	A	G	7: 82,099,541 (GRCm39)		probably null	Het
Adgrv1	A	T	13: 81,588,344 (GRCm39)	V4414E	possibly damaging	Het
Ahnak	C	T	19: 8,989,240 (GRCm39)	A3508V	possibly damaging	Het
Arhgap20	T	C	9: 51,738,209 (GRCm39)	I235T	probably damaging	Het
Brip1	A	G	11: 86,077,817 (GRCm39)	S204P	possibly damaging	Het
Ccdc185	C	A	1: 182,574,835 (GRCm39)	S618I	probably benign	Het
Ckap5	T	A	2: 91,406,614 (GRCm39)	I805K	probably damaging	Het
Clpsl2	G	A	17: 28,769,702 (GRCm39)	G55R	probably damaging	Het
Cmtm2a	A	T	8: 105,019,343 (GRCm39)	I82N	probably damaging	Het
Corin	T	A	5: 72,515,806 (GRCm39)	H416L	probably damaging	Het
Csnk2a2	G	A	8: 96,182,575 (GRCm39)	P296L		Het
Cygb	T	A	11: 116,540,116 (GRCm39)	T178S	probably benign	Het
Dchs1	T	C	7: 105,414,089 (GRCm39)	T909A	possibly damaging	Het
Ddx60	C	T	8: 62,436,945 (GRCm39)	A965V	probably benign	Het
Dmbt1	A	G	7: 130,700,953 (GRCm39)	T1218A	unknown	Het
Ebf1	T	C	11: 44,863,742 (GRCm39)	I364T	probably damaging	Het
Efcab10	C	A	12: 33,448,313 (GRCm39)	R49S	probably damaging	Het
Eif2b1	G	A	5: 124,717,162 (GRCm39)		probably benign	Het
Evl	C	T	12: 108,647,783 (GRCm39)	R295*	probably null	Het
Gm49358	T	A	10: 86,656,857 (GRCm39)	F273Y		Het
Gria2	T	A	3: 80,614,550 (GRCm39)	I497F	possibly damaging	Het
Ipo9	T	C	1: 135,331,078 (GRCm39)	T426A	probably benign	Het
Klhl11	T	C	11: 100,354,811 (GRCm39)	I337V	probably benign	Het
Krtap19-5	A	T	16: 88,693,236 (GRCm39)	Y25*	probably null	Het
Lamb2	T	G	9: 108,364,722 (GRCm39)	S1159A	probably benign	Het
Mpig6b	A	T	17: 35,284,328 (GRCm39)	L154Q	probably damaging	Het
Mrpl28	T	C	17: 26,343,594 (GRCm39)	I118T	probably damaging	Het
Msh3	A	T	13: 92,435,690 (GRCm39)	N536K	probably benign	Het
Mtcl3	T	C	10: 29,072,894 (GRCm39)	S729P	probably damaging	Het
Myh8	A	G	11: 67,190,598 (GRCm39)	K1308E	possibly damaging	Het
Nav3	C	A	10: 109,688,520 (GRCm39)	G586W	probably damaging	Het
Ncoa7	T	C	10: 30,570,087 (GRCm39)	K291E	possibly damaging	Het
Nr5a1	C	T	2: 38,591,993 (GRCm39)	V327I	probably damaging	Het
Nup85	TACAAGACAA	TACAA	11: 115,469,063 (GRCm39)		probably null	Het
Or1o4	A	T	17: 37,590,935 (GRCm39)	H125Q	probably benign	Het
Or4f4-ps1	A	T	2: 111,330,332 (GRCm39)	D245V	possibly damaging	Het
Or4g17	T	C	2: 111,210,086 (GRCm39)	V247A	probably damaging	Het
Pard3b	T	C	1: 61,807,143 (GRCm39)	Y53H	probably damaging	Het
Pcyox1l	G	A	18: 61,840,576 (GRCm39)	P26L	unknown	Het
Pdzrn4	A	G	15: 92,641,476 (GRCm39)	S391G	probably damaging	Het
Pfn4	T	A	12: 4,825,487 (GRCm39)	M108K	probably damaging	Het
Pibf1	C	T	14: 99,416,803 (GRCm39)	Q459*	probably null	Het
Pkd1l1	C	T	11: 8,897,241 (GRCm39)	C556Y	probably damaging	Het
Plin1	A	G	7: 79,379,599 (GRCm39)	F84L	possibly damaging	Het
Rasa3	A	G	8: 13,627,801 (GRCm39)		probably null	Het
Sdc1	G	A	12: 8,840,663 (GRCm39)	V143I	probably benign	Het
Skic3	T	C	13: 76,278,446 (GRCm39)		probably null	Het
Skor2	C	A	18: 76,947,373 (GRCm39)	A365E	unknown	Het
Slc16a7	A	G	10: 125,164,202 (GRCm39)		probably null	Het
Slc25a31	T	A	3: 40,663,573 (GRCm39)	V51E	probably damaging	Het
Slc6a6	C	A	6: 91,703,087 (GRCm39)	F153L	probably damaging	Het
Snx7	T	A	3: 117,630,894 (GRCm39)	K238M	probably damaging	Het
Spata3	C	T	1: 85,952,075 (GRCm39)	R110C	unknown	Het
Spata31f3	A	G	4: 42,873,051 (GRCm39)	L80P	probably damaging	Het
Sphkap	T	G	1: 83,241,303 (GRCm39)	Q1587P	probably damaging	Het
Tcte1	T	C	17: 45,850,618 (GRCm39)	I298T	possibly damaging	Het
Tmem247	A	G	17: 87,229,795 (GRCm39)	Y120C		Het
Togaram2	C	G	17: 72,023,489 (GRCm39)	L802V	probably benign	Het
Trim32	T	C	4: 65,532,199 (GRCm39)	V252A	probably benign	Het
Ube2q2l	T	G	6: 136,378,184 (GRCm39)	R215S	possibly damaging	Het
Vat1	T	C	11: 101,351,029 (GRCm39)	K404R	probably benign	Het
Xirp2	C	A	2: 67,342,379 (GRCm39)	T1540K	probably benign	Het
Zc2hc1c	C	T	12: 85,343,386 (GRCm39)	H508Y	probably damaging	Het
Zfp407	A	T	18: 84,579,310 (GRCm39)	M601K	probably damaging	Het
Zfp951	A	T	5: 104,963,169 (GRCm39)	Y132*	probably null	Het

Other mutations in B4galnt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01419:B4galnt3	APN	6	120,192,351 (GRCm39)	missense	possibly damaging	0.87
IGL01543:B4galnt3	APN	6	120,186,273 (GRCm39)	missense	probably benign	0.00
IGL02692:B4galnt3	APN	6	120,187,272 (GRCm39)	missense	probably damaging	1.00
IGL03149:B4galnt3	APN	6	120,208,555 (GRCm39)	splice site	probably benign
IGL03272:B4galnt3	APN	6	120,193,267 (GRCm39)	missense	probably damaging	1.00
Minimus	UTSW	6	120,192,018 (GRCm39)	missense	probably benign
R0121:B4galnt3	UTSW	6	120,191,999 (GRCm39)	missense	probably benign
R0414:B4galnt3	UTSW	6	120,193,526 (GRCm39)	missense	probably benign	0.05
R1885:B4galnt3	UTSW	6	120,200,601 (GRCm39)	missense	probably damaging	0.99
R1908:B4galnt3	UTSW	6	120,187,051 (GRCm39)	critical splice donor site	probably null
R2264:B4galnt3	UTSW	6	120,180,771 (GRCm39)	makesense	probably null
R4208:B4galnt3	UTSW	6	120,192,063 (GRCm39)	missense	probably damaging	0.99
R4353:B4galnt3	UTSW	6	120,192,437 (GRCm39)	missense	possibly damaging	0.89
R4649:B4galnt3	UTSW	6	120,201,581 (GRCm39)	missense	probably damaging	1.00
R4874:B4galnt3	UTSW	6	120,184,167 (GRCm39)	missense	probably damaging	1.00
R5046:B4galnt3	UTSW	6	120,191,759 (GRCm39)	missense	probably damaging	1.00
R5232:B4galnt3	UTSW	6	120,209,949 (GRCm39)	missense	probably damaging	1.00
R5431:B4galnt3	UTSW	6	120,195,928 (GRCm39)	missense	probably damaging	1.00
R5447:B4galnt3	UTSW	6	120,192,018 (GRCm39)	missense	probably benign
R5458:B4galnt3	UTSW	6	120,187,346 (GRCm39)	missense	probably damaging	0.98
R5793:B4galnt3	UTSW	6	120,185,865 (GRCm39)	critical splice donor site	probably null
R5954:B4galnt3	UTSW	6	120,202,149 (GRCm39)	missense	possibly damaging	0.88
R5985:B4galnt3	UTSW	6	120,187,119 (GRCm39)	missense	probably damaging	1.00
R6156:B4galnt3	UTSW	6	120,191,801 (GRCm39)	missense	probably benign	0.02
R6176:B4galnt3	UTSW	6	120,201,125 (GRCm39)	missense	probably damaging	1.00
R6207:B4galnt3	UTSW	6	120,183,575 (GRCm39)	splice site	probably null
R6565:B4galnt3	UTSW	6	120,194,440 (GRCm39)	nonsense	probably null
R7153:B4galnt3	UTSW	6	120,191,929 (GRCm39)	missense	probably benign	0.00
R7268:B4galnt3	UTSW	6	120,192,003 (GRCm39)	missense	possibly damaging	0.92
R7307:B4galnt3	UTSW	6	120,192,392 (GRCm39)	missense	probably benign	0.00
R7311:B4galnt3	UTSW	6	120,192,396 (GRCm39)	nonsense	probably null
R7360:B4galnt3	UTSW	6	120,209,940 (GRCm39)	nonsense	probably null
R7538:B4galnt3	UTSW	6	120,271,384 (GRCm39)	nonsense	probably null
R7674:B4galnt3	UTSW	6	120,192,166 (GRCm39)	missense	probably benign	0.01
R7706:B4galnt3	UTSW	6	120,195,913 (GRCm39)	missense	probably benign	0.16
R7727:B4galnt3	UTSW	6	120,202,148 (GRCm39)	missense	probably benign	0.03
R8131:B4galnt3	UTSW	6	120,271,346 (GRCm39)	splice site	probably null
R8170:B4galnt3	UTSW	6	120,183,577 (GRCm39)	splice site	probably null
R9225:B4galnt3	UTSW	6	120,195,928 (GRCm39)	missense	probably damaging	1.00
R9462:B4galnt3	UTSW	6	120,271,438 (GRCm39)	missense	probably null	0.38
R9531:B4galnt3	UTSW	6	120,180,802 (GRCm39)	missense	probably damaging	1.00
R9544:B4galnt3	UTSW	6	120,209,905 (GRCm39)	missense	probably damaging	1.00
X0028:B4galnt3	UTSW	6	120,208,513 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GCAGTTGCCTGAGGATACTG -3'
(R):5'- AAGCGAGTAGGATCTCATAAGCAC -3'

Sequencing Primer
(F):5'- ACTGGATGAGATTTCACTATGCC -3'
(R):5'- GGATCTCATAAGCACACCTATCTTG -3'

Posted On

2020-06-30