Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01301:B4galnt1'

73231

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

B4galnt1

Ensembl Gene

ENSMUSG00000006731

Gene Name

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

Synonyms

Ggm2, Gal-NAc-T, GalNAcT, beta1,4GalNAC-T, GalNAc-T, Ggm-2, GM2/GD2 synthase, 4933429D13Rik, Galgt1

Accession Numbers

Genbank: NM_008080; MGI: 1342057

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01301

Quality Score

Status

Chromosome

Chromosomal Location

127165225-127172330 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127169779 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 250 (T250A)

Ref Sequence

ENSEMBL: ENSMUSP00000006914 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006914] [ENSMUST00000095270] [ENSMUST00000217678] [ENSMUST00000222911]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006914
AA Change: T250A

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000006914
Gene: ENSMUSG00000006731
AA Change: T250A

Domain	Start	End	E-Value	Type
transmembrane domain	7	24	N/A	INTRINSIC
low complexity region	191	202	N/A	INTRINSIC
Pfam:Glycos_transf_2	280	450	7e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000095270

SMART Domains

Protein: ENSMUSP00000092904
Gene: ENSMUSG00000040441

Domain	Start	End	E-Value	Type
low complexity region	51	78	N/A	INTRINSIC
low complexity region	82	97	N/A	INTRINSIC
Pfam:Sulfate_transp	105	497	5.5e-103	PFAM
low complexity region	512	522	N/A	INTRINSIC
Pfam:STAS	549	664	3.3e-19	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000217678

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218977

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220055

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221174

Predicted Effect

probably benign
Transcript: ENSMUST00000222911

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T is the enzyme involved in the biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T catalyzes the transfer of GalNAc into G(M3) and G(D3) by a beta-1,4 linkage, resulting in the synthesis of G(M2) and G(D2), respectively. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]
PHENOTYPE: Mice homozygous for one knock-out allele lack all complex gangliosides but show normal brain histology and gross behavior with only subtle defects in neural conduction velocities. Mice homozygous for another knock-out allele exhibit male infertility due to degeneration of the seminiferous tubules. [provided by MGI curators]

Allele List at MGI

All alleles(2) : Targeted, knock-out(2)

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	C	T	17: 14,943,919		probably null	Het
Acacb	A	T	5: 114,246,498	I2238L	probably benign	Het
Aldh1l2	T	C	10: 83,522,846	Y95C	probably damaging	Het
Asxl2	A	G	12: 3,501,425	T1056A	probably damaging	Het
Cela3b	A	T	4: 137,423,843		probably null	Het
Chst3	T	C	10: 60,185,832	T398A	probably damaging	Het
Cngb3	A	G	4: 19,425,625	T478A	probably damaging	Het
Cyp4a10	T	C	4: 115,518,455	L45P	probably damaging	Het
Defb21	A	G	2: 152,574,751	E49G	possibly damaging	Het
Dnajc1	T	C	2: 18,308,834	T159A	probably damaging	Het
Dnmbp	A	G	19: 43,902,354	S325P	probably benign	Het
Fam91a1	T	C	15: 58,442,871	F534L	probably damaging	Het
Fermt2	T	C	14: 45,464,863	E488G	probably damaging	Het
Filip1	T	C	9: 79,819,180	D719G	possibly damaging	Het
Gad1-ps	A	G	10: 99,445,151		noncoding transcript	Het
Glra3	C	A	8: 55,940,962	A36E	probably benign	Het
Gm9884	T	A	1: 25,830,648		probably benign	Het
Hectd2	T	C	19: 36,569,370		probably benign	Het
Hnrnpm	C	T	17: 33,669,168		probably null	Het
Lrrk2	T	A	15: 91,767,339	Y1733N	probably damaging	Het
Mindy1	T	C	3: 95,288,390	L148P	probably damaging	Het
Mkrn2	C	A	6: 115,611,789	Y164*	probably null	Het
Msra	T	C	14: 64,210,435	Y135C	probably damaging	Het
Ndst3	C	T	3: 123,548,916	A749T	probably damaging	Het
Ngdn	G	T	14: 55,017,114	A41S	probably benign	Het
Nlrp12	A	T	7: 3,240,092	S597T	probably damaging	Het
Olfr1451	A	T	19: 12,999,417	I144F	probably damaging	Het
Pabpc6	A	G	17: 9,667,970	S551P	probably benign	Het
Plekhg5	C	T	4: 152,112,553	A752V	probably benign	Het
Prpf4b	T	C	13: 34,884,291	S368P	probably benign	Het
Pus7	A	G	5: 23,746,424		probably null	Het
Rad23b	T	C	4: 55,366,774		probably benign	Het
Rgs13	T	C	1: 144,171,414		probably benign	Het
Sfpq	T	C	4: 127,026,760		probably benign	Het
Slc9a9	T	A	9: 95,055,459	S455T	probably benign	Het
Slco1a1	A	G	6: 141,932,530		probably benign	Het
Tmem26	A	T	10: 68,778,606	N284Y	probably damaging	Het
Tmem87a	T	C	2: 120,380,769	I232V	probably benign	Het
Trpm2	A	G	10: 77,923,984	L1106P	probably damaging	Het
Vmn1r18	T	C	6: 57,389,667		probably benign	Het
Zfp213	G	T	17: 23,561,417	A43D	probably benign	Het
Zfp365	A	G	10: 67,909,354	V198A	probably damaging	Het
Zfp395	T	A	14: 65,394,751		probably null	Het
Zfp618	G	A	4: 63,132,826	V615M	probably damaging	Het

Other mutations in B4galnt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00858:B4galnt1	APN	10	127167764	missense	probably benign	0.01
IGL01087:B4galnt1	APN	10	127166191	missense	probably damaging	1.00
IGL01924:B4galnt1	APN	10	127166761	missense	probably benign	0.01
IGL02996:B4galnt1	APN	10	127167003	missense	probably damaging	1.00
Hypokalemic	UTSW	10	127171793	splice site	probably null
ANU18:B4galnt1	UTSW	10	127169779	missense	possibly damaging	0.56
R0233:B4galnt1	UTSW	10	127170911	unclassified	probably benign
R4646:B4galnt1	UTSW	10	127167836	missense	probably damaging	0.99
R4702:B4galnt1	UTSW	10	127167525	missense	possibly damaging	0.90
R4703:B4galnt1	UTSW	10	127167525	missense	possibly damaging	0.90
R4705:B4galnt1	UTSW	10	127167525	missense	possibly damaging	0.90
R4708:B4galnt1	UTSW	10	127169815	missense	probably damaging	1.00
R5377:B4galnt1	UTSW	10	127171822	missense	possibly damaging	0.95
R6644:B4galnt1	UTSW	10	127171793	splice site	probably null
R7006:B4galnt1	UTSW	10	127169831	missense	probably benign	0.00
R7278:B4galnt1	UTSW	10	127167788	missense	probably benign	0.01
R7396:B4galnt1	UTSW	10	127171616	missense	possibly damaging	0.89
R7886:B4galnt1	UTSW	10	127167054	missense	probably damaging	0.99
R7935:B4galnt1	UTSW	10	127171621	missense	probably damaging	1.00

Posted On

2013-10-07