Mutagenetix > Incidental Mutation

Incidental Mutation 'R9682:B3gnt4'

728615

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

Accession Numbers

Essential gene?

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

Stock #

R9682 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123648523-123649945 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 123649516 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 294 (I294L)

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

probably benign
Transcript: ENSMUST00000031384
AA Change: I294L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000031384
Gene: ENSMUSG00000029431
AA Change: I294L

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: 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.] 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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	T	5: 8,752,507 (GRCm39)	M493L	probably benign	Het
Abcb5	T	A	12: 118,896,328 (GRCm39)	I334F	probably damaging	Het
Acad9	C	T	3: 36,136,268 (GRCm39)	A351V	possibly damaging	Het
Adgrg6	A	T	10: 14,316,128 (GRCm39)	N536K	possibly damaging	Het
Alk	A	T	17: 72,182,058 (GRCm39)	L1322M	possibly damaging	Het
Atp2b1	T	C	10: 98,815,662 (GRCm39)	V102A	possibly damaging	Het
Atp8b3	T	C	10: 80,371,230 (GRCm39)	N48S	probably damaging	Het
Bnip3	A	G	7: 138,496,445 (GRCm39)	S88P	probably damaging	Het
Ccr2	A	G	9: 123,906,176 (GRCm39)	Y152C	probably damaging	Het
Cd28	T	C	1: 60,804,505 (GRCm39)	L161P	probably damaging	Het
Clcn4	C	T	7: 7,299,797 (GRCm39)	V11M	probably benign	Het
Clec4g	T	A	8: 3,757,713 (GRCm39)	S79C	unknown	Het
Cux1	A	T	5: 136,337,116 (GRCm39)	S799T	probably benign	Het
Cyp2t4	A	T	7: 26,857,611 (GRCm39)	H408L	probably damaging	Het
Cyp3a41a	A	T	5: 145,652,326 (GRCm39)	W58R	possibly damaging	Het
Dicer1	A	G	12: 104,672,484 (GRCm39)	V921A	probably damaging	Het
Dpysl3	A	G	18: 43,491,313 (GRCm39)	L268P	probably damaging	Het
Dus3l	G	A	17: 57,076,770 (GRCm39)	V626I	probably benign	Het
Epb41	C	A	4: 131,655,820 (GRCm39)	D337Y		Het
Fer1l6	A	G	15: 58,422,113 (GRCm39)	T104A	probably benign	Het
Fgd4	T	C	16: 16,302,202 (GRCm39)	T118A	probably benign	Het
Gabra4	T	A	5: 71,798,415 (GRCm39)	Y188F	possibly damaging	Het
Gm28168	A	T	1: 117,875,824 (GRCm39)	H151L	probably damaging	Het
Gm7995	A	G	14: 42,133,395 (GRCm39)	I91V		Het
Heg1	A	G	16: 33,541,298 (GRCm39)	E485G	probably benign	Het
Hirip3	A	G	7: 126,462,021 (GRCm39)	D73G	probably benign	Het
Igdcc3	A	G	9: 65,091,332 (GRCm39)	D684G	probably benign	Het
Kif15	A	G	9: 122,815,712 (GRCm39)	E502G	probably damaging	Het
Lrrc31	C	T	3: 30,743,423 (GRCm39)	V181I	probably damaging	Het
Lrrc7	G	T	3: 157,882,954 (GRCm39)	S446R	possibly damaging	Het
Lyst	A	G	13: 13,831,526 (GRCm39)	E1650G	probably benign	Het
Map3k6	A	G	4: 132,975,419 (GRCm39)	Y718C	possibly damaging	Het
Mta1	T	C	12: 113,095,384 (GRCm39)		probably null	Het
Muc16	C	T	9: 18,553,874 (GRCm39)	G4140R	unknown	Het
Nfe2l1	A	C	11: 96,710,944 (GRCm39)	I428M	probably benign	Het
Nup210l	T	A	3: 90,051,469 (GRCm39)	Y538N	possibly damaging	Het
Nxpe4	G	A	9: 48,304,248 (GRCm39)	V112M	probably benign	Het
Or1e16	C	T	11: 73,286,025 (GRCm39)	M274I	probably benign	Het
Or4c112	T	A	2: 88,854,296 (GRCm39)	Q17L	possibly damaging	Het
Or4k40	T	A	2: 111,250,737 (GRCm39)	K186N	probably benign	Het
Or52d3	G	T	7: 104,229,434 (GRCm39)	A194S	probably damaging	Het
Or8g24	G	A	9: 38,989,874 (GRCm39)	H56Y	possibly damaging	Het
Palm	A	G	10: 79,655,039 (GRCm39)	T266A	possibly damaging	Het
Pdzph1	T	G	17: 59,257,262 (GRCm39)	K925N	probably damaging	Het
Pfkfb3	G	T	2: 11,491,058 (GRCm39)	Q179K	probably benign	Het
Phtf1	A	G	3: 103,901,214 (GRCm39)	Q421R	possibly damaging	Het
Pip5k1b	A	T	19: 24,356,318 (GRCm39)	S207T	probably damaging	Het
Pkd2	T	C	5: 104,626,790 (GRCm39)	V324A	probably damaging	Het
Plcxd1	A	T	5: 110,251,477 (GRCm39)	N351I	probably damaging	Het
Prr14l	G	A	5: 32,988,023 (GRCm39)	P491S	probably benign	Het
Rxfp2	A	T	5: 149,966,564 (GRCm39)	R101*	probably null	Het
Saxo2	T	G	7: 82,292,881 (GRCm39)	K72T	probably benign	Het
Sema3b	T	A	9: 107,481,013 (GRCm39)	D108V	probably damaging	Het
Sh3gl2	A	G	4: 85,295,748 (GRCm39)	D150G	probably damaging	Het
Slc6a12	G	A	6: 121,340,704 (GRCm39)	M544I	probably benign	Het
Spag6l	T	C	16: 16,646,981 (GRCm39)		probably null	Het
Stat3	A	G	11: 100,785,593 (GRCm39)	F512L	probably benign	Het
Stk39	A	G	2: 68,196,449 (GRCm39)	S327P	probably damaging	Het
Tjp3	C	T	10: 81,109,645 (GRCm39)	E853K	probably benign	Het
Tmem30c	A	T	16: 57,111,180 (GRCm39)	S31T	probably benign	Het
Tpte	A	T	8: 22,841,493 (GRCm39)	D495V	probably damaging	Het
Ugt2b5	A	T	5: 87,287,522 (GRCm39)	M215K	probably damaging	Het
Vinac1	T	C	2: 128,875,529 (GRCm39)	S1246G	unknown	Het
Vsig2	T	C	9: 37,451,771 (GRCm39)	L135S	probably benign	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
R8155:B3gnt4	UTSW	5	123,649,426 (GRCm39)	missense	possibly damaging	0.93
R8879:B3gnt4	UTSW	5	123,649,211 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCGTTTTCCATGTACAGGG -3'
(R):5'- CTGGTGATAGGAGTTGAGTCACTC -3'

Sequencing Primer
(F):5'- TTTCCATGTACAGGGCCCGC -3'
(R):5'- TGAGTCACTCTAAAGCTGTTGC -3'

Posted On

2022-10-06