Mutagenetix > Incidental Mutation

Incidental Mutation 'R8170:B4galnt3'

652019

Institutional Source

Beutler Lab

Gene Symbol

B4galnt3

Ensembl Gene

ENSMUSG00000041372

Gene Name

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

Synonyms

MMRRC Submission

067596-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R8170 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120203073-120294559 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 120206616 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148759 (fasta)

Gene Model

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

AlphaFold

Q6L8S8

Predicted Effect

probably null
Transcript: ENSMUST00000057283

SMART Domains

Protein: ENSMUSP00000058253
Gene: ENSMUSG00000041372

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

probably null
Transcript: ENSMUST00000212457

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (76/76)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,263,594 (GRCm38)	V595A	probably benign	Het
A430033K04Rik	A	G	5: 138,647,053 (GRCm38)	E400G	possibly damaging	Het
Abca16	C	T	7: 120,465,782 (GRCm38)	T554I	probably damaging	Het
Acadm	T	A	3: 153,944,398 (GRCm38)	R10W	possibly damaging	Het
Arhgap45	G	A	10: 80,027,872 (GRCm38)	A819T	probably damaging	Het
Arhgef25	A	G	10: 127,187,179 (GRCm38)	W120R	probably damaging	Het
Atg7	A	T	6: 114,701,190 (GRCm38)	Q347L	probably benign	Het
Atl2	T	C	17: 79,856,261 (GRCm38)	I316V	possibly damaging	Het
Baiap2l1	A	T	5: 144,277,692 (GRCm38)	Y397*	probably null	Het
Cacna1b	A	G	2: 24,678,874 (GRCm38)		probably null	Het
Capn10	T	C	1: 92,934,964 (GRCm38)	S31P	probably damaging	Het
Casp8ap2	C	T	4: 32,615,490 (GRCm38)		probably benign	Het
Ccdc122	A	T	14: 77,091,878 (GRCm38)	I124L	probably benign	Het
Ccdc90b	A	G	7: 92,561,542 (GRCm38)	S3G	probably benign	Het
Cdc14b	A	T	13: 64,215,735 (GRCm38)		probably null	Het
Chd5	T	A	4: 152,376,583 (GRCm38)	M1210K	probably benign	Het
Clec18a	T	G	8: 111,080,919 (GRCm38)	K133T	probably damaging	Het
Cog4	T	A	8: 110,866,031 (GRCm38)	M413K	probably damaging	Het
Cpa5	A	T	6: 30,624,595 (GRCm38)	I145L	probably benign	Het
Ctdspl2	T	G	2: 122,006,942 (GRCm38)	S397A	probably benign	Het
Dnah8	T	A	17: 30,673,823 (GRCm38)	I794N	probably damaging	Het
Ednrb	T	A	14: 103,823,204 (GRCm38)	T218S	possibly damaging	Het
Eif3b	T	A	5: 140,426,775 (GRCm38)		probably null	Het
Fam208b	G	A	13: 3,574,881 (GRCm38)	Q1690*	probably null	Het
Fanci	A	C	7: 79,433,557 (GRCm38)		probably null	Het
Fat2	C	T	11: 55,270,455 (GRCm38)	V3150M	probably damaging	Het
Fat3	T	C	9: 15,947,496 (GRCm38)	Y3808C	probably damaging	Het
Gabrr1	T	A	4: 33,162,718 (GRCm38)	L428Q	probably damaging	Het
Garnl3	G	C	2: 33,015,223 (GRCm38)	P488R	possibly damaging	Het
Gli3	T	C	13: 15,720,208 (GRCm38)	S656P	probably benign	Het
Gm35339	C	A	15: 76,363,619 (GRCm38)	F1614L		Het
Gpr153	T	C	4: 152,280,177 (GRCm38)	I230T	probably damaging	Het
Hoxc6	A	G	15: 103,009,861 (GRCm38)	N86D	probably benign	Het
Iqch	T	G	9: 63,429,030 (GRCm38)	R985S	probably damaging	Het
Jun	T	A	4: 95,050,322 (GRCm38)	N317I	probably damaging	Het
Kif26a	T	G	12: 112,175,318 (GRCm38)		probably null	Het
Map4k3	T	C	17: 80,605,860 (GRCm38)	H627R	possibly damaging	Het
Misp	T	A	10: 79,826,466 (GRCm38)	I239N	probably benign	Het
Mpzl2	T	A	9: 45,043,721 (GRCm38)	V27E	probably damaging	Het
Mta3	T	C	17: 83,791,661 (GRCm38)	S385P	probably damaging	Het
Muc5b	G	A	7: 141,861,000 (GRCm38)	S2561N	unknown	Het
Myh8	A	G	11: 67,288,266 (GRCm38)	H495R	probably benign	Het
Nbeal1	G	C	1: 60,237,151 (GRCm38)	V684L	probably benign	Het
Nlrp5	A	T	7: 23,433,710 (GRCm38)	T927S	probably benign	Het
Nr5a2	T	A	1: 136,940,647 (GRCm38)	D310V	probably benign	Het
Nrbp1	A	G	5: 31,245,803 (GRCm38)	T207A	probably damaging	Het
Nxf1	G	T	19: 8,771,050 (GRCm38)	L14F	probably benign	Het
Olfr447	G	A	6: 42,912,191 (GRCm38)	A223T	possibly damaging	Het
Olfr777	T	A	10: 129,269,048 (GRCm38)	N92Y	possibly damaging	Het
Pcdhb15	A	G	18: 37,475,584 (GRCm38)	E623G	probably damaging	Het
Pid1	T	C	1: 84,285,000 (GRCm38)		probably null	Het
Plcb2	C	A	2: 118,711,453 (GRCm38)	R892L	possibly damaging	Het
Polr1a	C	G	6: 71,920,749 (GRCm38)	P243A	probably benign	Het
Pot1a	A	G	6: 25,758,803 (GRCm38)	*326Q	probably null	Het
Ppp5c	G	T	7: 17,007,146 (GRCm38)	F335L	probably damaging	Het
Prl8a2	T	C	13: 27,352,811 (GRCm38)	Y139H	probably benign	Het
Rogdi	G	T	16: 5,011,737 (GRCm38)	R93S	probably benign	Het
Rsph6a	C	A	7: 19,057,580 (GRCm38)	R225S	probably damaging	Het
Sept8	T	C	11: 53,537,857 (GRCm38)	S408P	possibly damaging	Het
Sf3a2	T	A	10: 80,803,297 (GRCm38)		probably null	Het
Shank3	T	C	15: 89,548,840 (GRCm38)	S1263P	possibly damaging	Het
Speer4f2	A	C	5: 17,374,461 (GRCm38)	D86A		Het
Stard9	T	C	2: 120,700,048 (GRCm38)	F2262S	possibly damaging	Het
Svep1	T	A	4: 58,069,378 (GRCm38)	I2803F	probably benign	Het
Taf1c	C	T	8: 119,602,826 (GRCm38)		probably null	Het
Tepp	A	T	8: 95,320,058 (GRCm38)	I120F	probably damaging	Het
Tfap2a	C	T	13: 40,719,268 (GRCm38)	V317I	probably benign	Het
Thnsl2	T	C	6: 71,129,333 (GRCm38)	T370A	probably benign	Het
Tmem201	C	T	4: 149,718,720 (GRCm38)	G564S	probably benign	Het
Ttc41	A	C	10: 86,776,166 (GRCm38)	E1101A	probably damaging	Het
Ugcg	T	A	4: 59,211,974 (GRCm38)	F113L	possibly damaging	Het
Unc80	G	T	1: 66,651,533 (GRCm38)	V2456L	probably benign	Het
Vav3	A	T	3: 109,424,007 (GRCm38)	N74I	probably damaging	Het
Vmn2r25	T	A	6: 123,853,017 (GRCm38)	R58S	probably benign	Het
Ylpm1	T	A	12: 85,034,027 (GRCm38)	M1499K	probably benign	Het
Zfp647	A	G	15: 76,911,371 (GRCm38)	V363A	possibly damaging	Het

Other mutations in B4galnt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01419:B4galnt3	APN	6	120,215,390 (GRCm38)	missense	possibly damaging	0.87
IGL01543:B4galnt3	APN	6	120,209,312 (GRCm38)	missense	probably benign	0.00
IGL02692:B4galnt3	APN	6	120,210,311 (GRCm38)	missense	probably damaging	1.00
IGL03149:B4galnt3	APN	6	120,231,594 (GRCm38)	splice site	probably benign
IGL03272:B4galnt3	APN	6	120,216,306 (GRCm38)	missense	probably damaging	1.00
Minimus	UTSW	6	120,215,057 (GRCm38)	missense	probably benign
R0121:B4galnt3	UTSW	6	120,215,038 (GRCm38)	missense	probably benign
R0414:B4galnt3	UTSW	6	120,216,565 (GRCm38)	missense	probably benign	0.05
R1885:B4galnt3	UTSW	6	120,223,640 (GRCm38)	missense	probably damaging	0.99
R1908:B4galnt3	UTSW	6	120,210,090 (GRCm38)	critical splice donor site	probably null
R2264:B4galnt3	UTSW	6	120,203,810 (GRCm38)	makesense	probably null
R4208:B4galnt3	UTSW	6	120,215,102 (GRCm38)	missense	probably damaging	0.99
R4353:B4galnt3	UTSW	6	120,215,476 (GRCm38)	missense	possibly damaging	0.89
R4649:B4galnt3	UTSW	6	120,224,620 (GRCm38)	missense	probably damaging	1.00
R4874:B4galnt3	UTSW	6	120,207,206 (GRCm38)	missense	probably damaging	1.00
R5046:B4galnt3	UTSW	6	120,214,798 (GRCm38)	missense	probably damaging	1.00
R5232:B4galnt3	UTSW	6	120,232,988 (GRCm38)	missense	probably damaging	1.00
R5431:B4galnt3	UTSW	6	120,218,967 (GRCm38)	missense	probably damaging	1.00
R5447:B4galnt3	UTSW	6	120,215,057 (GRCm38)	missense	probably benign
R5458:B4galnt3	UTSW	6	120,210,385 (GRCm38)	missense	probably damaging	0.98
R5793:B4galnt3	UTSW	6	120,208,904 (GRCm38)	critical splice donor site	probably null
R5954:B4galnt3	UTSW	6	120,225,188 (GRCm38)	missense	possibly damaging	0.88
R5985:B4galnt3	UTSW	6	120,210,158 (GRCm38)	missense	probably damaging	1.00
R6156:B4galnt3	UTSW	6	120,214,840 (GRCm38)	missense	probably benign	0.02
R6176:B4galnt3	UTSW	6	120,224,164 (GRCm38)	missense	probably damaging	1.00
R6207:B4galnt3	UTSW	6	120,206,614 (GRCm38)	splice site	probably null
R6565:B4galnt3	UTSW	6	120,217,479 (GRCm38)	nonsense	probably null
R7153:B4galnt3	UTSW	6	120,214,968 (GRCm38)	missense	probably benign	0.00
R7268:B4galnt3	UTSW	6	120,215,042 (GRCm38)	missense	possibly damaging	0.92
R7307:B4galnt3	UTSW	6	120,215,431 (GRCm38)	missense	probably benign	0.00
R7311:B4galnt3	UTSW	6	120,215,435 (GRCm38)	nonsense	probably null
R7360:B4galnt3	UTSW	6	120,232,979 (GRCm38)	nonsense	probably null
R7538:B4galnt3	UTSW	6	120,294,423 (GRCm38)	nonsense	probably null
R7674:B4galnt3	UTSW	6	120,215,205 (GRCm38)	missense	probably benign	0.01
R7706:B4galnt3	UTSW	6	120,218,952 (GRCm38)	missense	probably benign	0.16
R7727:B4galnt3	UTSW	6	120,225,187 (GRCm38)	missense	probably benign	0.03
R8125:B4galnt3	UTSW	6	120,224,593 (GRCm38)	missense	probably damaging	0.99
R8131:B4galnt3	UTSW	6	120,294,385 (GRCm38)	splice site	probably null
R9225:B4galnt3	UTSW	6	120,218,967 (GRCm38)	missense	probably damaging	1.00
R9462:B4galnt3	UTSW	6	120,294,477 (GRCm38)	missense	probably null	0.38
R9531:B4galnt3	UTSW	6	120,203,841 (GRCm38)	missense	probably damaging	1.00
R9544:B4galnt3	UTSW	6	120,232,944 (GRCm38)	missense	probably damaging	1.00
X0028:B4galnt3	UTSW	6	120,231,552 (GRCm38)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AGCAAAGTTCTGTGGCCCTG -3'
(R):5'- ATCAGCCATGGTCACAGCTATG -3'

Sequencing Primer
(F):5'- CACTGGAGCTCTAGCAGATC -3'
(R):5'- GCCATGGTCACAGCTATGTTTGATC -3'

Posted On

2020-09-23