Mutagenetix > Incidental Mutation

Incidental Mutation 'YA93:B4galnt4'

Institutional Source

Beutler Lab

Gene Symbol

B4galnt4

Ensembl Gene

ENSMUSG00000055629

Gene Name

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

Synonyms

LOC381951

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

YA93 of strain inept

Quality Score

Status

Validated

Chromosome

Chromosomal Location

140641017-140652313 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 140647324 bp (GRCm39)

Zygosity

Homozygous

Amino Acid Change

Isoleucine to Lysine at position 358 (I358K)

Ref Sequence

ENSEMBL: ENSMUSP00000039758 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048002]

AlphaFold

Q766D5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048002
AA Change: I358K

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000039758
Gene: ENSMUSG00000055629
AA Change: I358K

Domain	Start	End	E-Value	Type
transmembrane domain	13	31	N/A	INTRINSIC
low complexity region	68	83	N/A	INTRINSIC
PA14	129	276	6.07e-7	SMART
low complexity region	412	421	N/A	INTRINSIC
low complexity region	433	449	N/A	INTRINSIC
low complexity region	461	481	N/A	INTRINSIC
low complexity region	634	660	N/A	INTRINSIC
Pfam:CHGN	691	1024	8.9e-31	PFAM
Pfam:Glyco_transf_7C	939	1017	1.2e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209546

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210203

Predicted Effect

probably benign
Transcript: ENSMUST00000210517

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211455

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 90.4%
3x: 81.3%

Validation Efficiency

88% (101/115)

Allele List at MGI

All alleles(3) : Targeted, knock-out(1) Gene trapped(2)

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef4	C	T	1: 34,771,298 (GRCm39)	R1202W	probably benign	Het
Ccdc168	A	G	1: 44,104,245 (GRCm39)		probably benign	Het
Chodl	A	G	16: 78,738,170 (GRCm39)	H46R	probably benign	Homo
Cubn	C	A	2: 13,388,803 (GRCm39)	R1468L	probably benign	Het
Dlg5	G	A	14: 24,205,201 (GRCm39)		probably benign	Het
Dntt	A	C	19: 41,041,626 (GRCm39)	M437L	probably benign	Het
Grsf1	G	A	5: 88,821,594 (GRCm39)	P157S	probably damaging	Het
Lct	C	T	1: 128,229,057 (GRCm39)	G812D	probably damaging	Het
Osbpl5	T	A	7: 143,247,607 (GRCm39)	I720F	probably benign	Homo
Pbld2	T	A	10: 62,890,224 (GRCm39)	Y211N	possibly damaging	Het
Peg3	T	A	7: 6,714,646 (GRCm39)	E192V	probably damaging	Het
Ptbp3	T	C	4: 59,524,413 (GRCm39)	T38A	possibly damaging	Het
Rpap3	T	A	15: 97,591,114 (GRCm39)	E241V	possibly damaging	Het
Scara3	C	A	14: 66,168,398 (GRCm39)	M406I	probably damaging	Het
Serpinf2	C	A	11: 75,323,510 (GRCm39)	V399L	probably benign	Het

Other mutations in B4galnt4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01598:B4galnt4	APN	7	140,650,428 (GRCm39)	missense	probably benign	0.15
IGL02055:B4galnt4	APN	7	140,650,731 (GRCm39)	missense	probably damaging	1.00
IGL02248:B4galnt4	APN	7	140,647,721 (GRCm39)	unclassified	probably benign
IGL02955:B4galnt4	APN	7	140,644,591 (GRCm39)	missense	probably null	0.08
IGL03334:B4galnt4	APN	7	140,647,354 (GRCm39)	splice site	probably null
H8786:B4galnt4	UTSW	7	140,651,235 (GRCm39)	missense	probably damaging	0.99
R0520:B4galnt4	UTSW	7	140,647,286 (GRCm39)	nonsense	probably null
R0735:B4galnt4	UTSW	7	140,644,236 (GRCm39)	missense	probably benign	0.24
R1355:B4galnt4	UTSW	7	140,645,308 (GRCm39)	missense	probably damaging	1.00
R1864:B4galnt4	UTSW	7	140,650,446 (GRCm39)	missense	probably damaging	1.00
R1874:B4galnt4	UTSW	7	140,650,439 (GRCm39)	missense	probably damaging	1.00
R1928:B4galnt4	UTSW	7	140,648,061 (GRCm39)	nonsense	probably null
R1969:B4galnt4	UTSW	7	140,644,761 (GRCm39)	missense	probably benign	0.01
R3429:B4galnt4	UTSW	7	140,650,752 (GRCm39)	missense	probably damaging	1.00
R4239:B4galnt4	UTSW	7	140,641,239 (GRCm39)	missense	probably damaging	1.00
R4382:B4galnt4	UTSW	7	140,650,449 (GRCm39)	missense	probably damaging	0.99
R4517:B4galnt4	UTSW	7	140,647,635 (GRCm39)	missense	probably damaging	1.00
R4748:B4galnt4	UTSW	7	140,651,633 (GRCm39)	missense	probably damaging	1.00
R4827:B4galnt4	UTSW	7	140,648,392 (GRCm39)	missense	probably benign	0.00
R4831:B4galnt4	UTSW	7	140,644,470 (GRCm39)	critical splice donor site	probably null
R4831:B4galnt4	UTSW	7	140,647,634 (GRCm39)	missense	probably damaging	0.99
R4898:B4galnt4	UTSW	7	140,648,173 (GRCm39)	missense	probably benign	0.11
R5028:B4galnt4	UTSW	7	140,647,975 (GRCm39)	missense	probably benign	0.40
R5249:B4galnt4	UTSW	7	140,644,983 (GRCm39)	missense	probably damaging	1.00
R5267:B4galnt4	UTSW	7	140,650,524 (GRCm39)	missense	probably damaging	0.99
R5728:B4galnt4	UTSW	7	140,650,488 (GRCm39)	missense	probably benign	0.00
R5924:B4galnt4	UTSW	7	140,650,742 (GRCm39)	missense	probably damaging	1.00
R6063:B4galnt4	UTSW	7	140,644,643 (GRCm39)	missense	probably benign	0.08
R6311:B4galnt4	UTSW	7	140,648,572 (GRCm39)	missense	probably damaging	1.00
R6376:B4galnt4	UTSW	7	140,647,335 (GRCm39)	missense	possibly damaging	0.87
R6689:B4galnt4	UTSW	7	140,647,897 (GRCm39)	missense	probably benign	0.25
R6954:B4galnt4	UTSW	7	140,647,145 (GRCm39)	missense	probably benign	0.01
R6974:B4galnt4	UTSW	7	140,647,449 (GRCm39)	missense	possibly damaging	0.95
R7041:B4galnt4	UTSW	7	140,650,593 (GRCm39)	missense	probably damaging	1.00
R7092:B4galnt4	UTSW	7	140,648,549 (GRCm39)	missense	probably damaging	1.00
R7359:B4galnt4	UTSW	7	140,651,197 (GRCm39)	missense	probably damaging	1.00
R7367:B4galnt4	UTSW	7	140,644,388 (GRCm39)	missense	probably damaging	1.00
R7409:B4galnt4	UTSW	7	140,646,916 (GRCm39)	splice site	probably null
R7519:B4galnt4	UTSW	7	140,644,257 (GRCm39)	missense	probably damaging	1.00
R7664:B4galnt4	UTSW	7	140,647,626 (GRCm39)	missense	probably damaging	1.00
R7679:B4galnt4	UTSW	7	140,647,678 (GRCm39)	missense	probably benign	0.28
R7782:B4galnt4	UTSW	7	140,644,988 (GRCm39)	missense	probably damaging	1.00
R8103:B4galnt4	UTSW	7	140,644,564 (GRCm39)	missense	possibly damaging	0.91
R8783:B4galnt4	UTSW	7	140,643,759 (GRCm39)	missense	probably damaging	1.00
R8796:B4galnt4	UTSW	7	140,647,488 (GRCm39)	missense	probably damaging	1.00
R8855:B4galnt4	UTSW	7	140,648,488 (GRCm39)	missense	possibly damaging	0.68
R9545:B4galnt4	UTSW	7	140,644,804 (GRCm39)	missense	probably benign	0.04
R9629:B4galnt4	UTSW	7	140,648,575 (GRCm39)	missense	probably damaging	1.00
R9680:B4galnt4	UTSW	7	140,647,957 (GRCm39)	missense	possibly damaging	0.94
R9708:B4galnt4	UTSW	7	140,647,657 (GRCm39)	missense	probably benign
RF007:B4galnt4	UTSW	7	140,650,609 (GRCm39)	critical splice donor site	probably null

Nature of Mutation

DNA sequencing using the SOLiD technique identified a T to A transversion at position 1073 of the B4galnt4 transcript in exon 11of 20 total exons. The mutated nucleotide causes an isoleucine to lysine substitution at amino acid 358 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

Protein Function and Prediction

The B4galnt4 gene encodes a 1034 amino acid Golgi membrane protein that is a member of the chondroitin N-acetylgalactosaminyltransferase family. The N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 1 (NGalNAc-T1) protein transfers N-acetylgalactosamine (GalNAc) from UDP-GalNAc to N-acetylglucosamine-beta-benzyl with a beta-1,4-linkage to form N,N'-diacetyllactosediamine, GalNAc-beta-1,4-GlcNAc structures in N-linked glycans and probably O-linked glycans (Uniprot Q766D5).

The I358K change occurs in the lumenal domain of the protein and is predicted to be possibly damaging by the PolyPhen program.

Posted On

2010-03-01