Mutagenetix > Incidental Mutation

Incidental Mutation 'R8155:B3gnt4'

633252

Institutional Source

Beutler Lab

Gene Symbol

B3gnt4

Ensembl Gene

ENSMUSG00000029431

Gene Name

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4

Synonyms

1010001G17Rik

MMRRC Submission

067581-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R8155 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123648523-123649945 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 123649426 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 264 (H264Y)

Ref Sequence

ENSEMBL: ENSMUSP00000031384 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031384] [ENSMUST00000094327] [ENSMUST00000111586] [ENSMUST00000111587] [ENSMUST00000121444] [ENSMUST00000125652] [ENSMUST00000139398] [ENSMUST00000145152] [ENSMUST00000196809] [ENSMUST00000197682] [ENSMUST00000200247]

AlphaFold

Q1RLK6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031384
AA Change: H264Y

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000031384
Gene: ENSMUSG00000029431
AA Change: H264Y

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Galactosyl_T	106	297	1.3e-43	PFAM
Pfam:Fringe	169	302	2.8e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000094327

SMART Domains

Protein: ENSMUSP00000091885
Gene: ENSMUSG00000063409

Domain	Start	End	E-Value	Type
low complexity region	63	80	N/A	INTRINSIC
SCOP:d1a9na_	117	262	3e-16	SMART
low complexity region	389	402	N/A	INTRINSIC
low complexity region	537	565	N/A	INTRINSIC
low complexity region	614	629	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111586

SMART Domains

Protein: ENSMUSP00000107213
Gene: ENSMUSG00000029433

Domain	Start	End	E-Value	Type
Pfam:Smac_DIABLO	6	174	7.6e-85	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111587

SMART Domains

Protein: ENSMUSP00000107214
Gene: ENSMUSG00000029433

Domain	Start	End	E-Value	Type
Pfam:Smac_DIABLO	9	237	4.1e-106	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121444

SMART Domains

Protein: ENSMUSP00000113933
Gene: ENSMUSG00000063409

Domain	Start	End	E-Value	Type
low complexity region	63	80	N/A	INTRINSIC
SCOP:d1a9na_	117	262	4e-16	SMART
low complexity region	389	402	N/A	INTRINSIC
low complexity region	530	558	N/A	INTRINSIC
low complexity region	607	622	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125652

SMART Domains

Protein: ENSMUSP00000115045
Gene: ENSMUSG00000029433

Domain	Start	End	E-Value	Type
Pfam:Smac_DIABLO	6	237	1.1e-111	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139398

SMART Domains

Protein: ENSMUSP00000143485
Gene: ENSMUSG00000029433

Domain	Start	End	E-Value	Type
Pfam:Smac_DIABLO	6	150	7.1e-68	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145152

SMART Domains

Protein: ENSMUSP00000143617
Gene: ENSMUSG00000029433

Domain	Start	End	E-Value	Type
Pfam:Smac_DIABLO	9	150	3.4e-62	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196809

SMART Domains

Protein: ENSMUSP00000143602
Gene: ENSMUSG00000063409

Domain	Start	End	E-Value	Type
low complexity region	63	80	N/A	INTRINSIC
SCOP:d1a9na_	117	262	2e-16	SMART
low complexity region	389	402	N/A	INTRINSIC
low complexity region	537	565	N/A	INTRINSIC
low complexity region	635	652	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000197682

Predicted Effect

probably benign
Transcript: ENSMUST00000200247

SMART Domains

Protein: ENSMUSP00000143673
Gene: ENSMUSG00000029433

Domain	Start	End	E-Value	Type
Pfam:Smac_DIABLO	1	109	4.4e-57	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.9%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase protein family. The encoded enzyme is involved in the biosynthesis of poly-N-acetyllactosamine chains and prefers lacto-N-neotetraose as a substrate. It is a type II transmembrane protein. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	A	1: 71,330,497 (GRCm39)	T1386I	probably damaging	Het
Abcb6	A	T	1: 75,151,413 (GRCm39)	V504E	probably damaging	Het
Abtb3	G	A	10: 85,476,473 (GRCm39)		probably null	Het
Adprhl1	C	T	8: 13,271,764 (GRCm39)	A1665T	probably damaging	Het
Arhgap32	T	A	9: 32,093,196 (GRCm39)	L183H	probably damaging	Het
Arhgef12	A	G	9: 42,953,958 (GRCm39)	L24S	probably damaging	Het
Cfi	A	G	3: 129,648,739 (GRCm39)	T208A	probably benign	Het
Chd4	T	A	6: 125,082,287 (GRCm39)	F605Y	probably benign	Het
Cimap1d	A	T	10: 79,481,466 (GRCm39)	V21E	probably benign	Het
Clip1	A	G	5: 123,751,699 (GRCm39)	L694P		Het
Crybb3	A	T	5: 113,225,466 (GRCm39)	D135E	probably damaging	Het
Ddx60	T	A	8: 62,470,205 (GRCm39)	S1398T	possibly damaging	Het
Dusp5	T	A	19: 53,529,537 (GRCm39)	Y313*	probably null	Het
Eloa	A	G	4: 135,734,438 (GRCm39)	V689A	probably benign	Het
Ep300	T	A	15: 81,505,269 (GRCm39)	Y630N	unknown	Het
Galnt5	A	T	2: 57,889,427 (GRCm39)	K342N	probably benign	Het
Gm4841	A	G	18: 60,403,409 (GRCm39)	V228A	probably damaging	Het
Gna14	A	T	19: 16,576,338 (GRCm39)	D115V	probably benign	Het
Gpx5	T	C	13: 21,472,917 (GRCm39)	D139G	probably damaging	Het
Hmcn1	G	T	1: 150,480,705 (GRCm39)	N4490K	probably damaging	Het
Hsp90aa1	T	C	12: 110,661,828 (GRCm39)	S63G	unknown	Het
Itpkb	T	C	1: 180,159,913 (GRCm39)	I13T	possibly damaging	Het
Itprid2	T	C	2: 79,475,177 (GRCm39)	S379P	probably benign	Het
Lamb2	C	T	9: 108,357,845 (GRCm39)	R123W	probably damaging	Het
Ldha	A	G	7: 46,503,508 (GRCm39)	H300R	probably damaging	Het
Lrp2	A	G	2: 69,313,342 (GRCm39)	L2463P	possibly damaging	Het
Morf4l1	A	G	9: 89,977,225 (GRCm39)	I232T	probably damaging	Het
Mtg1	A	G	7: 139,724,622 (GRCm39)	H166R	probably benign	Het
Or14a260	A	G	7: 85,985,386 (GRCm39)	S73P	probably damaging	Het
Or2ad1	A	G	13: 21,327,062 (GRCm39)	L55P	probably damaging	Het
Or52r1	C	T	7: 102,536,452 (GRCm39)	D303N	probably benign	Het
Or5d46	A	G	2: 88,170,296 (GRCm39)	N129S	probably damaging	Het
Or6d12	T	A	6: 116,492,813 (GRCm39)	V25E	probably benign	Het
Or7g32	A	T	9: 19,389,453 (GRCm39)	V31D	probably benign	Het
Papss2	A	G	19: 32,618,742 (GRCm39)	T267A	probably benign	Het
Park7	G	A	4: 150,991,547 (GRCm39)	R48C	possibly damaging	Het
Pecr	A	G	1: 72,309,443 (GRCm39)	V199A	probably damaging	Het
Pla2g10	G	A	16: 13,543,048 (GRCm39)	R80W	probably damaging	Het
Plek2	G	A	12: 78,943,066 (GRCm39)	R77*	probably null	Het
Psg23	A	G	7: 18,346,179 (GRCm39)	L172P	probably damaging	Het
Psg25	A	C	7: 18,260,445 (GRCm39)	F151C	probably benign	Het
Ptpn3	G	T	4: 57,232,336 (GRCm39)	H433Q	probably benign	Het
Rasal3	A	G	17: 32,616,381 (GRCm39)	V294A	possibly damaging	Het
Rnf6	T	C	5: 146,147,815 (GRCm39)	D401G	probably damaging	Het
Rsf1	GCG	GCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Sema3d	T	C	5: 12,498,148 (GRCm39)		probably null	Het
Serpinb1c	A	T	13: 33,081,038 (GRCm39)	L15Q	probably damaging	Het
Slfn3	T	A	11: 83,103,611 (GRCm39)	Y161N	probably damaging	Het
Spns2	T	C	11: 72,347,394 (GRCm39)	M404V	possibly damaging	Het
Stk39	T	A	2: 68,097,410 (GRCm39)	I479L	probably damaging	Het
Tbx15	C	A	3: 99,259,886 (GRCm39)	Q586K	possibly damaging	Het
Thap11	C	T	8: 106,582,854 (GRCm39)	R288*	probably null	Het
Tm7sf2	T	A	19: 6,114,125 (GRCm39)	D236V	probably damaging	Het
Tmem214	T	C	5: 31,029,136 (GRCm39)	S192P	possibly damaging	Het
Tnfaip3	A	G	10: 18,880,439 (GRCm39)	S543P	possibly damaging	Het
Traf3ip3	A	G	1: 192,860,524 (GRCm39)	L466P	probably damaging	Het
Tspan18	C	T	2: 93,040,357 (GRCm39)		probably null	Het
Vmn1r229	T	A	17: 21,035,472 (GRCm39)	L239Q	probably damaging	Het
Vsig2	T	C	9: 37,455,329 (GRCm39)	V293A	possibly damaging	Het
Wdfy4	A	T	14: 32,884,776 (GRCm39)	V42D		Het
Wnk2	G	A	13: 49,192,577 (GRCm39)	P2055S	unknown	Het
Zfp953	C	A	13: 67,491,535 (GRCm39)	C139F	probably damaging	Het

Other mutations in B3gnt4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01395:B3gnt4	APN	5	123,649,131 (GRCm39)	missense	probably damaging	1.00
IGL01791:B3gnt4	APN	5	123,649,162 (GRCm39)	missense	probably damaging	1.00
IGL02825:B3gnt4	APN	5	123,649,114 (GRCm39)	missense	possibly damaging	0.58
R1996:B3gnt4	UTSW	5	123,649,402 (GRCm39)	missense	probably damaging	1.00
R2070:B3gnt4	UTSW	5	123,649,433 (GRCm39)	missense	probably benign	0.00
R2071:B3gnt4	UTSW	5	123,649,433 (GRCm39)	missense	probably benign	0.00
R2254:B3gnt4	UTSW	5	123,649,342 (GRCm39)	missense	probably damaging	0.99
R2255:B3gnt4	UTSW	5	123,649,342 (GRCm39)	missense	probably damaging	0.99
R3153:B3gnt4	UTSW	5	123,648,716 (GRCm39)	missense	probably benign	0.00
R3608:B3gnt4	UTSW	5	123,648,838 (GRCm39)	missense	probably damaging	1.00
R5021:B3gnt4	UTSW	5	123,649,010 (GRCm39)	missense	probably damaging	0.98
R6438:B3gnt4	UTSW	5	123,649,654 (GRCm39)	missense	probably benign	0.02
R6496:B3gnt4	UTSW	5	123,649,654 (GRCm39)	missense	probably benign	0.02
R7427:B3gnt4	UTSW	5	123,648,794 (GRCm39)	missense	probably damaging	0.99
R7428:B3gnt4	UTSW	5	123,648,794 (GRCm39)	missense	probably damaging	0.99
R7573:B3gnt4	UTSW	5	123,648,718 (GRCm39)	missense	probably benign
R8879:B3gnt4	UTSW	5	123,649,211 (GRCm39)	missense	probably damaging	1.00
R9682:B3gnt4	UTSW	5	123,649,516 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCAATGTGCTCGAGTTCTTG -3'
(R):5'- ACATGGTCCACATCTCCAGG -3'

Sequencing Primer
(F):5'- CTTGGAGGGCTGGGATCC -3'
(R):5'- ATCTCCAGGGGGCTGAGAC -3'

Posted On

2020-06-30