Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01419:B4galnt3'

80329

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

B4galnt3

Ensembl Gene

ENSMUSG00000041372

Gene Name

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

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

IGL01419

Quality Score

Status

Chromosome

Chromosomal Location

120180034-120271520 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120192351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 462 (S462P)

Ref Sequence

ENSEMBL: ENSMUSP00000058253 (fasta)

Gene Model

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

AlphaFold

Q6L8S8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057283
AA Change: S462P

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000058253
Gene: ENSMUSG00000041372
AA Change: S462P

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

noncoding transcript
Transcript: ENSMUST00000125341

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212457
AA Change: S461P

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)

Coding Region Coverage

Validation Efficiency

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	T	2: 25,327,526 (GRCm39)	T672S	probably damaging	Het
Adamts14	A	T	10: 61,041,321 (GRCm39)		probably benign	Het
Adgrv1	T	C	13: 81,705,277 (GRCm39)	E791G	probably damaging	Het
Alkbh8	A	G	9: 3,385,354 (GRCm39)	R584G	probably damaging	Het
Apob	A	T	12: 8,052,251 (GRCm39)	I1218F	probably damaging	Het
Atp5f1a	T	C	18: 77,865,233 (GRCm39)	S52P	probably damaging	Het
Bdkrb1	A	G	12: 105,571,040 (GRCm39)	H202R	possibly damaging	Het
Bltp1	T	C	3: 37,102,270 (GRCm39)	S1323P	probably damaging	Het
Cd300lf	T	C	11: 115,017,180 (GRCm39)	K48E	probably benign	Het
Cfhr4	T	C	1: 139,667,382 (GRCm39)		probably null	Het
Chuk	A	T	19: 44,085,420 (GRCm39)	I242K	probably damaging	Het
Csde1	A	G	3: 102,946,086 (GRCm39)	T27A	probably damaging	Het
D930048N14Rik	C	T	11: 51,545,603 (GRCm39)		probably benign	Het
Depdc7	A	T	2: 104,552,455 (GRCm39)	Y451N	possibly damaging	Het
Diaph3	C	A	14: 87,202,989 (GRCm39)	G623*	probably null	Het
Dlc1	T	C	8: 37,317,371 (GRCm39)	T435A	probably benign	Het
Dock8	A	G	19: 25,096,816 (GRCm39)	S575G	probably benign	Het
Fbxw22	T	A	9: 109,210,790 (GRCm39)	Y407F	probably benign	Het
Fzd4	C	A	7: 89,056,943 (GRCm39)	A330E	probably damaging	Het
Gm17415	A	G	1: 93,349,672 (GRCm39)		probably benign	Het
Gnat1	C	T	9: 107,556,633 (GRCm39)		probably null	Het
Gtf3c4	T	C	2: 28,725,081 (GRCm39)	Y76C	probably damaging	Het
Heatr5b	G	A	17: 79,103,939 (GRCm39)	H1079Y	probably benign	Het
Helz	T	G	11: 107,577,340 (GRCm39)	I1897S	unknown	Het
Hspa12a	T	C	19: 58,816,681 (GRCm39)		probably null	Het
Kcne1	G	T	16: 92,145,534 (GRCm39)	F103L	probably benign	Het
Lrrc20	A	T	10: 61,383,874 (GRCm39)	S94C	probably damaging	Het
Lrrc8a	A	G	2: 30,147,111 (GRCm39)	T642A	probably benign	Het
Ly6g5b	A	G	17: 35,333,494 (GRCm39)	L106P	probably benign	Het
Lyst	A	G	13: 13,810,423 (GRCm39)	S698G	probably benign	Het
Ndrg1	A	G	15: 66,802,900 (GRCm39)	V334A	probably benign	Het
Neb	A	T	2: 52,116,545 (GRCm39)	Y964*	probably null	Het
Or4c123	T	C	2: 89,126,689 (GRCm39)		probably benign	Het
Or8k3	A	T	2: 86,058,973 (GRCm39)	I114N	possibly damaging	Het
Parp10	A	G	15: 76,125,588 (GRCm39)	F497L	probably damaging	Het
Pdss1	A	G	2: 22,825,589 (GRCm39)	M343V	possibly damaging	Het
Phactr3	C	T	2: 177,920,855 (GRCm39)	T231I	probably benign	Het
Plekhh2	A	T	17: 84,890,980 (GRCm39)		probably benign	Het
Ppp1r12c	A	C	7: 4,489,351 (GRCm39)		probably null	Het
Prdm2	G	T	4: 142,860,218 (GRCm39)	P1024H	probably damaging	Het
Prkacb	A	T	3: 146,461,448 (GRCm39)	M1K	probably null	Het
Prkdc	C	A	16: 15,653,030 (GRCm39)	P3835Q	probably damaging	Het
Rps27a	T	C	11: 29,496,353 (GRCm39)	T87A	probably benign	Het
Ryr2	T	A	13: 11,814,723 (GRCm39)	E683V	possibly damaging	Het
Sbk2	A	G	7: 4,960,528 (GRCm39)	L214P	probably damaging	Het
Sema4g	A	G	19: 44,985,835 (GRCm39)	S250G	probably benign	Het
Slc27a6	T	A	18: 58,742,281 (GRCm39)	D498E	probably benign	Het
Tarbp1	T	C	8: 127,154,894 (GRCm39)	D1410G	probably benign	Het
Tas2r134	T	A	2: 51,517,759 (GRCm39)	Y79*	probably null	Het
Tie1	T	C	4: 118,333,295 (GRCm39)	D857G	probably damaging	Het
Tnk2	A	G	16: 32,499,498 (GRCm39)	N432S	probably damaging	Het
Tubg2	C	A	11: 101,049,883 (GRCm39)	D176E	probably benign	Het
Ugt2b34	A	T	5: 87,039,264 (GRCm39)	W466R	probably damaging	Het
Usp47	T	A	7: 111,687,118 (GRCm39)	M692K	possibly damaging	Het
Vmn2r106	T	C	17: 20,499,807 (GRCm39)	K143E	probably benign	Het
Vmn2r118	G	A	17: 55,900,000 (GRCm39)	L635F	probably benign	Het
Vmn2r16	C	T	5: 109,510,267 (GRCm39)		probably benign	Het
Vmn2r76	A	T	7: 85,874,910 (GRCm39)	M689K	probably benign	Het
Xkr6	T	C	14: 64,056,325 (GRCm39)	Y79H	probably benign	Het
Zdhhc6	A	G	19: 55,298,186 (GRCm39)	F224L	probably benign	Het
Zfp493	T	G	13: 67,934,921 (GRCm39)	I291M	probably benign	Het

Other mutations in B4galnt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R8125:B4galnt3	UTSW	6	120,201,554 (GRCm39)	missense	probably damaging	0.99
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

Posted On

2013-11-05