Mutagenetix > Incidental Mutation

Incidental Mutation 'R2207:B4galt3'

239097

Institutional Source

Beutler Lab

Gene Symbol

B4galt3

Ensembl Gene

ENSMUSG00000052423

Gene Name

UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 3

Synonyms

ESTM26, 9530061M23Rik, beta4GalT-III, R74981

MMRRC Submission

040209-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.454) question?

Stock #

R2207 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

171097898-171104468 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 171101613 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 196 (H196N)

Ref Sequence

ENSEMBL: ENSMUSP00000106945 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064272] [ENSMUST00000073120] [ENSMUST00000111313] [ENSMUST00000126699] [ENSMUST00000141999] [ENSMUST00000192956] [ENSMUST00000141114] [ENSMUST00000151863]

AlphaFold

Q91YY2

Predicted Effect

probably damaging
Transcript: ENSMUST00000064272
AA Change: H196N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000066353
Gene: ENSMUSG00000052423
AA Change: H196N

Domain	Start	End	E-Value	Type
transmembrane domain	12	31	N/A	INTRINSIC
low complexity region	61	77	N/A	INTRINSIC
Pfam:Glyco_transf_7N	79	212	1.7e-59	PFAM
Pfam:Glyco_transf_7C	217	294	6.3e-32	PFAM
low complexity region	348	364	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000073120

SMART Domains

Protein: ENSMUSP00000072863
Gene: ENSMUSG00000062729

Domain	Start	End	E-Value	Type
Pfam:NAD_binding_8	7	74	1.3e-9	PFAM
Pfam:Amino_oxidase	12	471	1.7e-64	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111313
AA Change: H196N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106945
Gene: ENSMUSG00000052423
AA Change: H196N

Domain	Start	End	E-Value	Type
transmembrane domain	12	31	N/A	INTRINSIC
low complexity region	61	77	N/A	INTRINSIC
Pfam:Glyco_transf_7N	79	214	2.1e-74	PFAM
Pfam:Glyco_transf_7C	217	294	1.7e-31	PFAM
Pfam:Glyco_tranf_2_2	238	298	1e-6	PFAM
low complexity region	348	364	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123954

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125939

Predicted Effect

probably benign
Transcript: ENSMUST00000126699

SMART Domains

Protein: ENSMUSP00000141958
Gene: ENSMUSG00000052423

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_7C	1	72	3.2e-28	PFAM
Pfam:Glyco_tranf_2_2	16	76	2.1e-5	PFAM
low complexity region	126	142	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126765

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129985

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132890

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155083

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152689

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138904

Predicted Effect

probably benign
Transcript: ENSMUST00000141999

SMART Domains

Protein: ENSMUSP00000114926
Gene: ENSMUSG00000052423

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192956

SMART Domains

Protein: ENSMUSP00000141835
Gene: ENSMUSG00000062729

Domain	Start	End	E-Value	Type
Pfam:NAD_binding_8	7	72	1.6e-7	PFAM
Pfam:Amino_oxidase	12	389	4.7e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141114

SMART Domains

Protein: ENSMUSP00000114560
Gene: ENSMUSG00000052423

Domain	Start	End	E-Value	Type
low complexity region	86	102	N/A	INTRINSIC
Pfam:Glyco_transf_7N	104	139	2.6e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151863

Meta Mutation Damage Score

0.5682

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene encodes an enzyme that may be mainly involved in the synthesis of the first N-acetyllactosamine unit of poly-N-acetyllactosamine chains. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	A	G	17: 37,288,965 (GRCm39)		probably benign	Het
Abcb1b	C	T	5: 8,874,803 (GRCm39)	R488C	probably benign	Het
Adam34	T	C	8: 44,105,274 (GRCm39)	I124V	probably benign	Het
Aicda	T	A	6: 122,538,244 (GRCm39)	V134D	possibly damaging	Het
Akt2	T	A	7: 27,336,625 (GRCm39)		probably null	Het
Aldh1a3	T	C	7: 66,055,769 (GRCm39)	R341G	probably damaging	Het
Ankrd12	G	T	17: 66,338,569 (GRCm39)		probably null	Het
Anxa11	A	G	14: 25,874,721 (GRCm39)	Y244C	probably damaging	Het
Atp2c2	G	A	8: 120,475,048 (GRCm39)	R551Q	probably damaging	Het
Bcl11a	G	T	11: 24,113,343 (GRCm39)	G229W	probably damaging	Het
Brip1	A	G	11: 85,952,703 (GRCm39)	V1026A	probably benign	Het
Cacna1h	A	T	17: 25,603,987 (GRCm39)	S1282T	probably benign	Het
Calcr	T	C	6: 3,717,133 (GRCm39)	Y109C	probably damaging	Het
Ccdc39	T	C	3: 33,890,882 (GRCm39)	I241V	probably damaging	Het
Ccdc9	A	G	7: 16,018,194 (GRCm39)		probably benign	Het
Cdk17	G	A	10: 93,064,624 (GRCm39)	D298N	probably damaging	Het
Cdkl3	A	G	11: 51,918,020 (GRCm39)	*354W	probably null	Het
Celf6	A	T	9: 59,511,610 (GRCm39)	Y401F	possibly damaging	Het
Clec4a4	C	T	6: 122,990,766 (GRCm39)	L169F	probably damaging	Het
Col14a1	T	C	15: 55,327,082 (GRCm39)	F1411L	unknown	Het
Col4a2	G	T	8: 11,493,352 (GRCm39)	G1354W	probably damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Cst13	A	T	2: 148,665,202 (GRCm39)	R66W	probably damaging	Het
Depp1	G	A	6: 116,628,683 (GRCm39)	V9M	possibly damaging	Het
Dhx8	A	G	11: 101,641,797 (GRCm39)	T632A	probably benign	Het
Disp1	A	G	1: 182,869,906 (GRCm39)	F838S	possibly damaging	Het
Dlg1	A	G	16: 31,672,664 (GRCm39)	H599R	probably benign	Het
Dnah12	T	A	14: 26,503,744 (GRCm39)	V1654E	probably damaging	Het
Dnah5	C	T	15: 28,343,817 (GRCm39)	L2406F	probably benign	Het
Fam98b	C	G	2: 117,098,300 (GRCm39)	R257G	probably damaging	Het
Fbn2	A	T	18: 58,214,471 (GRCm39)	C900*	probably null	Het
Fgf1	A	G	18: 38,980,138 (GRCm39)	Y79H	possibly damaging	Het
Foxn1	C	A	11: 78,249,630 (GRCm39)	A632S	probably benign	Het
Fsip2	T	G	2: 82,807,823 (GRCm39)	S1381A	probably benign	Het
Gtf2b	G	A	3: 142,484,081 (GRCm39)	G85D	probably benign	Het
Gyg1	C	A	3: 20,204,703 (GRCm39)	G161C	probably damaging	Het
Hemgn	G	T	4: 46,396,301 (GRCm39)	L312I	possibly damaging	Het
Hic2	T	C	16: 17,075,324 (GRCm39)	M51T	possibly damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hpx	C	T	7: 105,241,633 (GRCm39)	R287H	probably damaging	Het
Igf2bp3	C	T	6: 49,065,488 (GRCm39)	G468E	possibly damaging	Het
Il5ra	C	A	6: 106,689,402 (GRCm39)	E397*	probably null	Het
Itfg1	A	T	8: 86,502,827 (GRCm39)	S246R	probably benign	Het
Kdm2a	A	T	19: 4,412,898 (GRCm39)	D29E	probably damaging	Het
Lamc2	T	G	1: 153,009,452 (GRCm39)	E784D	possibly damaging	Het
Lrp2	A	T	2: 69,297,372 (GRCm39)	N3196K	possibly damaging	Het
Lyzl1	T	A	18: 4,181,962 (GRCm39)	C96*	probably null	Het
Maf1	A	G	15: 76,236,718 (GRCm39)	T17A	probably benign	Het
Map1b	T	C	13: 99,567,591 (GRCm39)	D1710G	unknown	Het
Megf8	C	T	7: 25,049,222 (GRCm39)	T1773I	probably damaging	Het
Mei1	T	C	15: 81,987,450 (GRCm39)	M414T	probably benign	Het
Myo15a	A	G	11: 60,396,860 (GRCm39)	N2643S	probably benign	Het
Ndufa9	A	G	6: 126,821,772 (GRCm39)	Y64H	probably damaging	Het
Neb	A	T	2: 52,101,579 (GRCm39)	L4354*	probably null	Het
Nom1	T	A	5: 29,644,972 (GRCm39)	I480N	probably damaging	Het
Nrxn3	C	T	12: 89,315,082 (GRCm39)	T331M	probably damaging	Het
Or1a1	G	T	11: 74,087,150 (GRCm39)	V274L	possibly damaging	Het
Or1j16	G	T	2: 36,530,201 (GRCm39)	R50M	possibly damaging	Het
Or4f14b	A	C	2: 111,775,270 (GRCm39)	F177C	probably damaging	Het
Or51a42	A	G	7: 103,708,612 (GRCm39)	S66P	probably damaging	Het
Pcdhb15	A	T	18: 37,608,075 (GRCm39)	T436S	probably benign	Het
Pcdhb18	T	A	18: 37,624,342 (GRCm39)	N557K	probably damaging	Het
Pcdhb6	T	C	18: 37,468,633 (GRCm39)	M518T	probably benign	Het
Pgm2l1	T	A	7: 99,917,319 (GRCm39)		probably null	Het
Pih1d2	C	A	9: 50,532,379 (GRCm39)	H162N	probably benign	Het
Pitrm1	T	A	13: 6,619,327 (GRCm39)	Y721N	probably damaging	Het
Pla2r1	C	A	2: 60,288,779 (GRCm39)	V618F	probably damaging	Het
Plb1	T	C	5: 32,473,984 (GRCm39)	S599P	possibly damaging	Het
Prkg1	T	C	19: 30,556,260 (GRCm39)	D562G	probably damaging	Het
Proser1	T	G	3: 53,385,812 (GRCm39)	S565A	probably benign	Het
Prx	T	A	7: 27,216,213 (GRCm39)	V238E	probably damaging	Het
Psapl1	T	C	5: 36,362,509 (GRCm39)	I367T	probably damaging	Het
Rc3h1	T	C	1: 160,767,595 (GRCm39)	V128A	probably damaging	Het
Rrm1	T	A	7: 102,091,233 (GRCm39)	M1K	probably null	Het
Rsf1	GCG	GCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Rsl1	A	G	13: 67,330,892 (GRCm39)	T447A	probably benign	Het
Ryr2	A	G	13: 11,825,823 (GRCm39)	S552P	probably damaging	Het
Sbf1	A	G	15: 89,190,896 (GRCm39)	S225P	possibly damaging	Het
Serpina3c	T	A	12: 104,117,757 (GRCm39)	I194F	probably benign	Het
Setd3	C	T	12: 108,073,544 (GRCm39)	V578M	probably benign	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slc6a1	T	A	6: 114,285,632 (GRCm39)	V356E	probably damaging	Het
Slfn1	A	G	11: 83,011,992 (GRCm39)	E36G	possibly damaging	Het
Sorcs1	T	C	19: 50,218,655 (GRCm39)	H609R	possibly damaging	Het
Spag16	A	G	1: 70,764,043 (GRCm39)	H621R	probably benign	Het
Spata31d1e	A	G	13: 59,890,920 (GRCm39)	V300A	probably benign	Het
Tg	G	A	15: 66,553,788 (GRCm39)	G401D	probably benign	Het
Tnxb	A	C	17: 34,928,391 (GRCm39)	T2602P	possibly damaging	Het
Trip11	T	C	12: 101,839,701 (GRCm39)	N1643S	probably benign	Het
Ttn	G	A	2: 76,709,687 (GRCm39)	R1581*	probably null	Het
Ttn	A	T	2: 76,796,155 (GRCm39)	I590K	probably benign	Het
Vmn1r225	A	G	17: 20,722,611 (GRCm39)	I17M	possibly damaging	Het
Vmn1r232	A	G	17: 21,134,465 (GRCm39)	L45P	probably benign	Het
Wdr7	T	A	18: 63,910,678 (GRCm39)	V690E	possibly damaging	Het
Xaf1	A	T	11: 72,194,228 (GRCm39)	E36D	possibly damaging	Het
Zfp131	A	T	13: 120,237,348 (GRCm39)	F303I	probably damaging	Het
Zfp513	T	G	5: 31,357,767 (GRCm39)	K202T	probably damaging	Het
Zfp788	A	T	7: 41,299,064 (GRCm39)	I567F	probably damaging	Het
Zfyve26	A	G	12: 79,292,861 (GRCm39)	V2096A	probably damaging	Het

Other mutations in B4galt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02019:B4galt3	APN	1	171,099,362 (GRCm39)	missense	probably damaging	1.00
BB004:B4galt3	UTSW	1	171,099,342 (GRCm39)	nonsense	probably null
BB014:B4galt3	UTSW	1	171,099,342 (GRCm39)	nonsense	probably null
R0026:B4galt3	UTSW	1	171,101,831 (GRCm39)	unclassified	probably benign
R0126:B4galt3	UTSW	1	171,103,738 (GRCm39)	missense	probably damaging	0.97
R0537:B4galt3	UTSW	1	171,101,821 (GRCm39)	unclassified	probably benign
R1478:B4galt3	UTSW	1	171,103,938 (GRCm39)	missense	probably benign	0.11
R2012:B4galt3	UTSW	1	171,100,118 (GRCm39)	missense	probably damaging	1.00
R2206:B4galt3	UTSW	1	171,101,613 (GRCm39)	missense	probably damaging	1.00
R2223:B4galt3	UTSW	1	171,101,613 (GRCm39)	missense	probably damaging	1.00
R2353:B4galt3	UTSW	1	171,101,613 (GRCm39)	missense	probably damaging	1.00
R2354:B4galt3	UTSW	1	171,101,613 (GRCm39)	missense	probably damaging	1.00
R2438:B4galt3	UTSW	1	171,101,613 (GRCm39)	missense	probably damaging	1.00
R2439:B4galt3	UTSW	1	171,101,613 (GRCm39)	missense	probably damaging	1.00
R3039:B4galt3	UTSW	1	171,101,613 (GRCm39)	missense	probably damaging	1.00
R3051:B4galt3	UTSW	1	171,101,613 (GRCm39)	missense	probably damaging	1.00
R3709:B4galt3	UTSW	1	171,101,613 (GRCm39)	missense	probably damaging	1.00
R3710:B4galt3	UTSW	1	171,101,613 (GRCm39)	missense	probably damaging	1.00
R3741:B4galt3	UTSW	1	171,101,613 (GRCm39)	missense	probably damaging	1.00
R3742:B4galt3	UTSW	1	171,101,613 (GRCm39)	missense	probably damaging	1.00
R3813:B4galt3	UTSW	1	171,101,613 (GRCm39)	missense	probably damaging	1.00
R3953:B4galt3	UTSW	1	171,101,613 (GRCm39)	missense	probably damaging	1.00
R4058:B4galt3	UTSW	1	171,101,613 (GRCm39)	missense	probably damaging	1.00
R4059:B4galt3	UTSW	1	171,101,613 (GRCm39)	missense	probably damaging	1.00
R4323:B4galt3	UTSW	1	171,103,515 (GRCm39)	missense	possibly damaging	0.93
R4367:B4galt3	UTSW	1	171,101,613 (GRCm39)	missense	probably damaging	1.00
R4368:B4galt3	UTSW	1	171,101,613 (GRCm39)	missense	probably damaging	1.00
R4370:B4galt3	UTSW	1	171,101,613 (GRCm39)	missense	probably damaging	1.00
R4371:B4galt3	UTSW	1	171,101,613 (GRCm39)	missense	probably damaging	1.00
R4486:B4galt3	UTSW	1	171,099,343 (GRCm39)	missense	possibly damaging	0.94
R4538:B4galt3	UTSW	1	171,100,280 (GRCm39)	missense	probably damaging	1.00
R5557:B4galt3	UTSW	1	171,100,089 (GRCm39)	critical splice acceptor site	probably null
R7313:B4galt3	UTSW	1	171,100,319 (GRCm39)	missense	probably damaging	1.00
R7927:B4galt3	UTSW	1	171,099,342 (GRCm39)	nonsense	probably null
R8222:B4galt3	UTSW	1	171,100,253 (GRCm39)	missense	possibly damaging	0.46
R8552:B4galt3	UTSW	1	171,101,917 (GRCm39)	missense	possibly damaging	0.70
R8804:B4galt3	UTSW	1	171,103,947 (GRCm39)	missense	probably benign	0.33
R8859:B4galt3	UTSW	1	171,099,241 (GRCm39)	missense	unknown
R9150:B4galt3	UTSW	1	171,103,899 (GRCm39)	missense	probably benign
R9265:B4galt3	UTSW	1	171,101,617 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTTGGGTGCTCTCTTCAC -3'
(R):5'- AACTCCGCCAAAGTACTGGG -3'

Sequencing Primer
(F):5'- GGGTGCTCTCTTCACTTTGGC -3'
(R):5'- AGATCCCTGCGGTTCACAAATTTG -3'

Posted On

2014-10-02