Mutagenetix > Incidental Mutation

Incidental Mutation 'R5377:B4galnt1'

425629

Institutional Source

Beutler Lab

Gene Symbol

B4galnt1

Ensembl Gene

ENSMUSG00000006731

Gene Name

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

Synonyms

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

MMRRC Submission

042845-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5377 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127001094-127008199 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127007691 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 531 (T531A)

Ref Sequence

ENSEMBL: ENSMUSP00000006914 (fasta)

Gene Model

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

AlphaFold

Q09200

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006914
AA Change: T531A

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000006914
Gene: ENSMUSG00000006731
AA Change: T531A

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

probably benign
Transcript: ENSMUST00000217678

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218658

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220327

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	G	T	6: 121,622,212 (GRCm39)	V372F	probably benign	Het
Adcy10	G	A	1: 165,347,464 (GRCm39)	C393Y	probably damaging	Het
Adgrg7	A	C	16: 56,550,669 (GRCm39)	I681S	possibly damaging	Het
Akap8l	T	C	17: 32,540,485 (GRCm39)		probably benign	Het
Akr1a1	A	T	4: 116,497,092 (GRCm39)	V156E	probably damaging	Het
Alk	T	G	17: 72,202,734 (GRCm39)	D1167A	probably damaging	Het
Ankrd11	T	C	8: 123,620,453 (GRCm39)		probably null	Het
Aspm	T	A	1: 139,385,221 (GRCm39)	N288K	probably damaging	Het
Aspm	A	G	1: 139,398,133 (GRCm39)		probably null	Het
Asxl2	G	A	12: 3,524,618 (GRCm39)		probably null	Het
Atp6v0a1	A	G	11: 100,946,413 (GRCm39)	H802R	probably damaging	Het
Cecr2	A	G	6: 120,733,530 (GRCm39)	N506D	possibly damaging	Het
Crebrf	T	C	17: 26,978,839 (GRCm39)	V509A	probably damaging	Het
Cyp4f40	A	T	17: 32,894,590 (GRCm39)	I413F	probably null	Het
Defb12	C	A	8: 19,164,342 (GRCm39)		probably null	Het
Dnah2	T	C	11: 69,312,674 (GRCm39)	E4297G	probably damaging	Het
Dpysl5	A	T	5: 30,948,857 (GRCm39)	N371Y	probably damaging	Het
Eef1d	G	T	15: 75,775,038 (GRCm39)	T207N	probably benign	Het
Esrrb	C	T	12: 86,565,783 (GRCm39)	Q416*	probably null	Het
Exd2	T	C	12: 80,536,222 (GRCm39)	L284P	probably damaging	Het
Fat3	T	A	9: 16,287,739 (GRCm39)	I595F	probably benign	Het
Gm9920	A	G	15: 54,972,371 (GRCm39)		probably benign	Het
Hephl1	T	C	9: 14,981,084 (GRCm39)	K783E	probably damaging	Het
Irs2	A	G	8: 11,055,277 (GRCm39)	S1052P	probably benign	Het
Kctd18	T	C	1: 58,002,252 (GRCm39)	I192V	probably benign	Het
Lama3	A	G	18: 12,586,803 (GRCm39)	D722G	probably damaging	Het
Lepr	T	C	4: 101,672,216 (GRCm39)	V1080A	possibly damaging	Het
Lpin1	C	T	12: 16,613,656 (GRCm39)	G504S	probably damaging	Het
Lrit2	A	C	14: 36,791,140 (GRCm39)	Q273P	possibly damaging	Het
Mlkl	T	A	8: 112,054,569 (GRCm39)	E189D	probably benign	Het
Mttp	C	T	3: 137,810,790 (GRCm39)	R608H	probably benign	Het
Nav2	T	C	7: 49,238,908 (GRCm39)	V2011A	probably benign	Het
Nos2	A	T	11: 78,848,317 (GRCm39)	I1075F	probably benign	Het
Npat	A	G	9: 53,461,336 (GRCm39)		probably null	Het
Nucks1	T	C	1: 131,846,771 (GRCm39)	F16L	probably damaging	Het
Nus1	T	C	10: 52,305,309 (GRCm39)	S150P	possibly damaging	Het
Odad1	C	T	7: 45,591,506 (GRCm39)	R257*	probably null	Het
Oga	A	T	19: 45,746,461 (GRCm39)	Y779*	probably null	Het
Or4c123	G	T	2: 89,127,506 (GRCm39)	T36K	probably damaging	Het
Or8b35	A	T	9: 37,903,908 (GRCm39)	Y40F	probably benign	Het
Pclo	A	G	5: 14,731,367 (GRCm39)	T3290A	unknown	Het
Pign	A	T	1: 105,585,537 (GRCm39)	F4Y	probably benign	Het
Rfx4	A	G	10: 84,696,406 (GRCm39)	N233D	possibly damaging	Het
Rpgrip1	A	T	14: 52,397,652 (GRCm39)	M1325L	possibly damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Scaf11	T	A	15: 96,315,001 (GRCm39)	H1227L	possibly damaging	Het
Sec31b	G	T	19: 44,507,076 (GRCm39)	P840T	probably damaging	Het
Slc16a9	T	A	10: 70,118,958 (GRCm39)	L426I	probably damaging	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc34a1	T	C	13: 23,996,575 (GRCm39)	S27P	probably damaging	Het
Tacc1	A	G	8: 25,672,299 (GRCm39)	S310P	possibly damaging	Het
Tmem245	G	A	4: 56,947,084 (GRCm39)	R110C	probably damaging	Het
Trip12	T	C	1: 84,735,152 (GRCm39)	Y953C	probably damaging	Het
Trpm7	C	A	2: 126,684,775 (GRCm39)		probably null	Het
Ush2a	G	A	1: 188,644,320 (GRCm39)	V4561I	probably benign	Het
Vmn1r192	C	T	13: 22,371,801 (GRCm39)	V140I	probably benign	Het
Vmn2r66	A	T	7: 84,656,026 (GRCm39)	I330N	probably damaging	Het
Vmn2r99	T	C	17: 19,599,531 (GRCm39)	V405A	probably damaging	Het
Wdhd1	A	C	14: 47,509,678 (GRCm39)	V172G	probably benign	Het
Zfhx3	C	T	8: 109,677,817 (GRCm39)	R2956C	possibly damaging	Het
Zfp446	T	C	7: 12,716,178 (GRCm39)	L283P	possibly damaging	Het
Zfp82	T	C	7: 29,756,591 (GRCm39)	K164E	probably damaging	Het

Other mutations in B4galnt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00858:B4galnt1	APN	10	127,003,633 (GRCm39)	missense	probably benign	0.01
IGL01087:B4galnt1	APN	10	127,002,060 (GRCm39)	missense	probably damaging	1.00
IGL01301:B4galnt1	APN	10	127,005,648 (GRCm39)	missense	possibly damaging	0.56
IGL01924:B4galnt1	APN	10	127,002,630 (GRCm39)	missense	probably benign	0.01
IGL02996:B4galnt1	APN	10	127,002,872 (GRCm39)	missense	probably damaging	1.00
Hypokalemic	UTSW	10	127,007,662 (GRCm39)	splice site	probably null
ANU18:B4galnt1	UTSW	10	127,005,648 (GRCm39)	missense	possibly damaging	0.56
R0233:B4galnt1	UTSW	10	127,006,780 (GRCm39)	unclassified	probably benign
R4646:B4galnt1	UTSW	10	127,003,705 (GRCm39)	missense	probably damaging	0.99
R4702:B4galnt1	UTSW	10	127,003,394 (GRCm39)	missense	possibly damaging	0.90
R4703:B4galnt1	UTSW	10	127,003,394 (GRCm39)	missense	possibly damaging	0.90
R4705:B4galnt1	UTSW	10	127,003,394 (GRCm39)	missense	possibly damaging	0.90
R4708:B4galnt1	UTSW	10	127,005,684 (GRCm39)	missense	probably damaging	1.00
R6644:B4galnt1	UTSW	10	127,007,662 (GRCm39)	splice site	probably null
R7006:B4galnt1	UTSW	10	127,005,700 (GRCm39)	missense	probably benign	0.00
R7278:B4galnt1	UTSW	10	127,003,657 (GRCm39)	missense	probably benign	0.01
R7396:B4galnt1	UTSW	10	127,007,485 (GRCm39)	missense	possibly damaging	0.89
R7886:B4galnt1	UTSW	10	127,002,923 (GRCm39)	missense	probably damaging	0.99
R7935:B4galnt1	UTSW	10	127,007,490 (GRCm39)	missense	probably damaging	1.00
R8738:B4galnt1	UTSW	10	127,007,584 (GRCm39)	missense	probably benign	0.28
R9057:B4galnt1	UTSW	10	127,006,999 (GRCm39)	missense	probably damaging	1.00
R9520:B4galnt1	UTSW	10	127,006,580 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGAATTCTTCCTGGATGGACTTGG -3'
(R):5'- TCTGGTCGCTCACAGAAAGG -3'

Sequencing Primer
(F):5'- CCTGGATGGACTTGGTTTCC -3'
(R):5'- CTCACAGAAAGGAAGGGTGTCAC -3'

Posted On

2016-08-04