Mutagenetix > Incidental Mutation

Incidental Mutation 'R9225:B4galnt3'

699772

Institutional Source

Beutler Lab

Gene Symbol

B4galnt3

Ensembl Gene

ENSMUSG00000041372

Gene Name

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

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R9225 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120180034-120271520 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120195928 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 300 (T300A)

Ref Sequence

ENSEMBL: ENSMUSP00000058253 (fasta)

Gene Model

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

AlphaFold

Q6L8S8

Predicted Effect

probably damaging
Transcript: ENSMUST00000057283
AA Change: T300A

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

SMART Domains

Protein: ENSMUSP00000058253
Gene: ENSMUSG00000041372
AA Change: T300A

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 damaging
Transcript: ENSMUST00000212457
AA Change: T300A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	G	T	5: 88,120,433 (GRCm39)	V397L	probably benign	Het
Adam26b	G	T	8: 43,973,453 (GRCm39)	Y516*	probably null	Het
Afap1	A	G	5: 36,133,968 (GRCm39)	K468E	possibly damaging	Het
Ank2	A	G	3: 126,736,111 (GRCm39)	S3258P	unknown	Het
Ap1g1	A	G	8: 110,585,509 (GRCm39)	K783E	probably benign	Het
Apbb1	A	G	7: 105,218,063 (GRCm39)	S20P		Het
Atg13	T	C	2: 91,519,128 (GRCm39)		probably null	Het
Atg16l2	A	G	7: 100,951,188 (GRCm39)	V16A	probably benign	Het
Atp11a	G	A	8: 12,867,005 (GRCm39)	R144Q	probably benign	Het
Avpr1a	A	T	10: 122,285,466 (GRCm39)	T253S	probably benign	Het
Bag4	A	G	8: 26,261,270 (GRCm39)	V157A	probably benign	Het
Brsk2	A	G	7: 141,547,039 (GRCm39)	H494R	probably damaging	Het
Cacna2d2	G	A	9: 107,403,403 (GRCm39)	G955S	probably benign	Het
Ccdc42	A	T	11: 68,479,061 (GRCm39)	E83V	probably damaging	Het
Cep120	T	C	18: 53,839,896 (GRCm39)	Q788R	probably benign	Het
Cnbd1	A	G	4: 18,907,010 (GRCm39)	I188T	probably benign	Het
Col6a6	C	T	9: 105,659,437 (GRCm39)	E503K	possibly damaging	Het
Cpt1c	A	T	7: 44,610,213 (GRCm39)	L661H	probably damaging	Het
Cyp2a22	T	C	7: 26,637,202 (GRCm39)	D194G	possibly damaging	Het
Cyp2c70	C	A	19: 40,168,912 (GRCm39)	R125L	probably damaging	Het
Cyp3a41a	A	T	5: 145,650,414 (GRCm39)	D76E	probably benign	Het
Cyp4f13	A	T	17: 33,144,319 (GRCm39)	I458N	probably damaging	Het
Cyp4f13	T	C	17: 33,148,175 (GRCm39)	Q350R	probably damaging	Het
Ddx60	G	A	8: 62,470,875 (GRCm39)	V1456I	probably benign	Het
Dgkh	T	C	14: 78,962,507 (GRCm39)	H8R	probably damaging	Het
Diaph3	A	G	14: 87,244,760 (GRCm39)		probably null	Het
Dnah8	A	C	17: 30,854,647 (GRCm39)	D103A	probably benign	Het
Dock4	G	A	12: 40,879,669 (GRCm39)	R1551Q	probably benign	Het
Eps8	A	T	6: 137,507,561 (GRCm39)	S56T	probably benign	Het
Fam171b	T	A	2: 83,710,386 (GRCm39)	L686Q	probably damaging	Het
Fndc3b	A	C	3: 27,510,680 (GRCm39)	L814*	probably null	Het
Gcnt2	T	A	13: 41,014,336 (GRCm39)	L169Q	probably damaging	Het
Gm21103	T	A	14: 17,484,877 (GRCm39)	I56F	possibly damaging	Het
Gpc1	A	T	1: 92,783,742 (GRCm39)	K276N	probably damaging	Het
Hivep1	T	A	13: 42,337,184 (GRCm39)	V2421D	probably damaging	Het
Hoxb1	T	C	11: 96,257,119 (GRCm39)	L156P	probably benign	Het
Ifi208	A	G	1: 173,518,294 (GRCm39)	D467G	possibly damaging	Het
Klhl22	A	G	16: 17,594,617 (GRCm39)	M249V	probably damaging	Het
Kmt2b	A	G	7: 30,286,172 (GRCm39)	V240A	unknown	Het
Lacc1	A	T	14: 77,272,414 (GRCm39)	Y127*	probably null	Het
Lgr4	C	A	2: 109,842,485 (GRCm39)	H823Q	probably benign	Het
Llgl1	T	C	11: 60,600,889 (GRCm39)	S662P	probably damaging	Het
Lrrc1	G	A	9: 77,359,955 (GRCm39)	T279I	probably benign	Het
Lrrc8e	T	A	8: 4,284,561 (GRCm39)	V262E	probably damaging	Het
Magi1	G	T	6: 93,762,511 (GRCm39)	P292T	possibly damaging	Het
Mccc1	T	A	3: 36,018,511 (GRCm39)	I608F	probably benign	Het
Mroh8	T	A	2: 157,107,010 (GRCm39)	I220L	probably damaging	Het
Mtcl3	A	T	10: 29,072,327 (GRCm39)	K540*	probably null	Het
Mycn	C	A	12: 12,987,609 (GRCm39)	D263Y	probably damaging	Het
Myrip	A	G	9: 120,293,850 (GRCm39)	K782E	probably damaging	Het
Ncoa6	T	A	2: 155,249,441 (GRCm39)	I1288F	possibly damaging	Het
Nebl	A	G	2: 17,405,322 (GRCm39)	I399T	possibly damaging	Het
Neurod1	A	T	2: 79,284,731 (GRCm39)	H217Q	probably benign	Het
Nlrp5	T	C	7: 23,117,371 (GRCm39)	V365A	probably benign	Het
Or1e1	C	A	11: 73,244,595 (GRCm39)	N5K	probably damaging	Het
Or2ag12	A	G	7: 106,276,976 (GRCm39)	V239A	probably benign	Het
Or5b100-ps1	G	C	19: 12,994,371 (GRCm39)	*261Y	probably null	Het
Or5b100-ps1	A	G	19: 12,994,370 (GRCm39)	*261W	probably null	Het
Otud7a	A	G	7: 63,407,469 (GRCm39)	T591A	possibly damaging	Het
Pbx3	T	C	2: 34,260,938 (GRCm39)		probably benign	Het
Pcdhb4	A	T	18: 37,441,695 (GRCm39)	Q335L	possibly damaging	Het
Plxnc1	C	A	10: 94,629,061 (GRCm39)	C1571F	probably damaging	Het
Pola2	G	A	19: 6,000,492 (GRCm39)	P330S	probably benign	Het
Ppm1l	A	T	3: 69,460,244 (GRCm39)	N274Y	probably benign	Het
Ppp4r3b	A	G	11: 29,155,648 (GRCm39)	D538G	possibly damaging	Het
Ptx4	C	T	17: 25,341,696 (GRCm39)	T57I	probably benign	Het
Rchy1	A	T	5: 92,105,396 (GRCm39)	C108*	probably null	Het
Rif1	A	G	2: 52,001,862 (GRCm39)	E130G	probably benign	Het
Rmdn1	A	T	4: 19,601,385 (GRCm39)	Y219F	probably damaging	Het
Rnf144a	A	G	12: 26,377,606 (GRCm39)	C46R	probably damaging	Het
Rpl13a	C	A	7: 44,775,627 (GRCm39)	G146V	probably damaging	Het
Rpl13a	C	A	7: 44,775,628 (GRCm39)	G146W	probably damaging	Het
Rtn3	A	T	19: 7,434,854 (GRCm39)	N379K	probably damaging	Het
Sdc1	G	T	12: 8,821,817 (GRCm39)	R19L	unknown	Het
Shank1	A	G	7: 43,983,470 (GRCm39)	I651V	unknown	Het
Slamf6	T	C	1: 171,764,270 (GRCm39)	V221A	probably benign	Het
Sp9	C	A	2: 73,103,839 (GRCm39)	S131*	probably null	Het
Spen	T	C	4: 141,202,943 (GRCm39)	T1895A	possibly damaging	Het
Taf6l	CGCAGCCGCACCTG	CG	19: 8,751,688 (GRCm39)		probably benign	Het
Thada	G	T	17: 84,749,172 (GRCm39)	H600N	possibly damaging	Het
Trmt11	G	T	10: 30,423,753 (GRCm39)	P384Q	probably damaging	Het
Tsnaxip1	T	C	8: 106,566,659 (GRCm39)	L165P	probably damaging	Het
Ttc7	A	G	17: 87,637,502 (GRCm39)	Y419C	probably damaging	Het
Ugt1a6a	T	C	1: 88,066,560 (GRCm39)	F122S	probably benign	Het
Vmn1r218	G	A	13: 23,320,824 (GRCm39)	C57Y	probably benign	Het
Vmn2r14	T	C	5: 109,369,288 (GRCm39)	N95S	probably damaging	Het
Vmn2r2	G	T	3: 64,034,021 (GRCm39)	H500Q	probably benign	Het
Vmn2r70	T	A	7: 85,208,242 (GRCm39)	Y745F	probably damaging	Het
Zfp189	C	T	4: 49,530,193 (GRCm39)	S432F	probably benign	Het
Zscan2	C	T	7: 80,513,021 (GRCm39)	A2V	probably damaging	Het

Other mutations in B4galnt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01419:B4galnt3	APN	6	120,192,351 (GRCm39)	missense	possibly damaging	0.87
IGL01543:B4galnt3	APN	6	120,186,273 (GRCm39)	missense	probably benign	0.00
IGL02692:B4galnt3	APN	6	120,187,272 (GRCm39)	missense	probably damaging	1.00
IGL03149:B4galnt3	APN	6	120,208,555 (GRCm39)	splice site	probably benign
IGL03272:B4galnt3	APN	6	120,193,267 (GRCm39)	missense	probably damaging	1.00
Minimus	UTSW	6	120,192,018 (GRCm39)	missense	probably benign
R0121:B4galnt3	UTSW	6	120,191,999 (GRCm39)	missense	probably benign
R0414:B4galnt3	UTSW	6	120,193,526 (GRCm39)	missense	probably benign	0.05
R1885:B4galnt3	UTSW	6	120,200,601 (GRCm39)	missense	probably damaging	0.99
R1908:B4galnt3	UTSW	6	120,187,051 (GRCm39)	critical splice donor site	probably null
R2264:B4galnt3	UTSW	6	120,180,771 (GRCm39)	makesense	probably null
R4208:B4galnt3	UTSW	6	120,192,063 (GRCm39)	missense	probably damaging	0.99
R4353:B4galnt3	UTSW	6	120,192,437 (GRCm39)	missense	possibly damaging	0.89
R4649:B4galnt3	UTSW	6	120,201,581 (GRCm39)	missense	probably damaging	1.00
R4874:B4galnt3	UTSW	6	120,184,167 (GRCm39)	missense	probably damaging	1.00
R5046:B4galnt3	UTSW	6	120,191,759 (GRCm39)	missense	probably damaging	1.00
R5232:B4galnt3	UTSW	6	120,209,949 (GRCm39)	missense	probably damaging	1.00
R5431:B4galnt3	UTSW	6	120,195,928 (GRCm39)	missense	probably damaging	1.00
R5447:B4galnt3	UTSW	6	120,192,018 (GRCm39)	missense	probably benign
R5458:B4galnt3	UTSW	6	120,187,346 (GRCm39)	missense	probably damaging	0.98
R5793:B4galnt3	UTSW	6	120,185,865 (GRCm39)	critical splice donor site	probably null
R5954:B4galnt3	UTSW	6	120,202,149 (GRCm39)	missense	possibly damaging	0.88
R5985:B4galnt3	UTSW	6	120,187,119 (GRCm39)	missense	probably damaging	1.00
R6156:B4galnt3	UTSW	6	120,191,801 (GRCm39)	missense	probably benign	0.02
R6176:B4galnt3	UTSW	6	120,201,125 (GRCm39)	missense	probably damaging	1.00
R6207:B4galnt3	UTSW	6	120,183,575 (GRCm39)	splice site	probably null
R6565:B4galnt3	UTSW	6	120,194,440 (GRCm39)	nonsense	probably null
R7153:B4galnt3	UTSW	6	120,191,929 (GRCm39)	missense	probably benign	0.00
R7268:B4galnt3	UTSW	6	120,192,003 (GRCm39)	missense	possibly damaging	0.92
R7307:B4galnt3	UTSW	6	120,192,392 (GRCm39)	missense	probably benign	0.00
R7311:B4galnt3	UTSW	6	120,192,396 (GRCm39)	nonsense	probably null
R7360:B4galnt3	UTSW	6	120,209,940 (GRCm39)	nonsense	probably null
R7538:B4galnt3	UTSW	6	120,271,384 (GRCm39)	nonsense	probably null
R7674:B4galnt3	UTSW	6	120,192,166 (GRCm39)	missense	probably benign	0.01
R7706:B4galnt3	UTSW	6	120,195,913 (GRCm39)	missense	probably benign	0.16
R7727:B4galnt3	UTSW	6	120,202,148 (GRCm39)	missense	probably benign	0.03
R8125:B4galnt3	UTSW	6	120,201,554 (GRCm39)	missense	probably damaging	0.99
R8131:B4galnt3	UTSW	6	120,271,346 (GRCm39)	splice site	probably null
R8170:B4galnt3	UTSW	6	120,183,577 (GRCm39)	splice site	probably null
R9462:B4galnt3	UTSW	6	120,271,438 (GRCm39)	missense	probably null	0.38
R9531:B4galnt3	UTSW	6	120,180,802 (GRCm39)	missense	probably damaging	1.00
R9544:B4galnt3	UTSW	6	120,209,905 (GRCm39)	missense	probably damaging	1.00
X0028:B4galnt3	UTSW	6	120,208,513 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GGTCTCCTGAGTCCTATCTATCAAC -3'
(R):5'- AAGTACTATACAGGTGTAGGCTAAGTG -3'

Sequencing Primer
(F):5'- TCAACATAGAGAGCCTTGATGTG -3'
(R):5'- TTCTGTCAGGTCAACAGTAGAGC -3'

Posted On

2022-02-07