Mutagenetix > Incidental Mutation

Incidental Mutation 'R7369:B3gnt5'

572037

Institutional Source

Beutler Lab

Gene Symbol

B3gnt5

Ensembl Gene

ENSMUSG00000022686

Gene Name

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5

Synonyms

MMRRC Submission

045453-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.594) question?

Stock #

R7369 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19578958-19591503 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 19588410 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 210 (Q210K)

Ref Sequence

ENSEMBL: ENSMUSP00000078712 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079780] [ENSMUST00000119468] [ENSMUST00000121344] [ENSMUST00000164397]

AlphaFold

Q8BGY6

Predicted Effect

probably benign
Transcript: ENSMUST00000079780
AA Change: Q210K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000078712
Gene: ENSMUSG00000022686
AA Change: Q210K

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
Pfam:Galactosyl_T	100	299	2e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119468
AA Change: Q210K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000113145
Gene: ENSMUSG00000022686
AA Change: Q210K

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
Pfam:Galactosyl_T	100	299	2e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121344
AA Change: Q210K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000112624
Gene: ENSMUSG00000022686
AA Change: Q210K

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
Pfam:Galactosyl_T	100	299	2e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164397
AA Change: Q210K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000126157
Gene: ENSMUSG00000022686
AA Change: Q210K

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
Pfam:Galactosyl_T	100	299	2e-49	PFAM

Meta Mutation Damage Score

0.0900

Coding Region Coverage

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

Validation Efficiency

100% (77/77)

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 family. This enzyme is a type II membrane protein. It exhibits strong activity to transfer GlcNAc to glycolipid substrates and is identified as the most likely candidate for lactotriaosylceramide synthase. This enzyme is essential for the expression of Lewis X epitopes on glycolipids. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice may show variable types of lethality or no lethality depending on the allele. Mice homozygous for 3 alleles show B cell abnormalities. Mice homozygous or heterozygous for 2 allele show reduced fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L13Rik	C	T	7: 29,989,377 (GRCm39)	L196F	unknown	Het
Ahr	A	T	12: 35,554,659 (GRCm39)	W487R	possibly damaging	Het
Apaf1	A	G	10: 90,836,898 (GRCm39)	S1060P	probably damaging	Het
Atf7	G	T	15: 102,462,244 (GRCm39)	P126H	probably damaging	Het
Begain	T	C	12: 108,999,853 (GRCm39)	Y306C	possibly damaging	Het
Car5a	T	C	8: 122,650,573 (GRCm39)	K157R	probably benign	Het
Car5b	A	C	X: 162,797,836 (GRCm39)	S35R	probably benign	Het
Cdh6	A	G	15: 13,042,724 (GRCm39)	V478A	probably damaging	Het
Cdyl	A	G	13: 35,999,992 (GRCm39)	E91G	probably damaging	Het
Cep135	A	C	5: 76,741,100 (GRCm39)	K59Q	possibly damaging	Het
Clec2m	T	A	6: 129,308,496 (GRCm39)	Q11L	possibly damaging	Het
Cnot3	T	A	7: 3,656,330 (GRCm39)	D205E	possibly damaging	Het
Dgkd	G	A	1: 87,849,344 (GRCm39)	G379R	probably damaging	Het
Dppa1	T	A	11: 46,506,944 (GRCm39)		probably null	Het
Dsp	G	T	13: 38,381,501 (GRCm39)	V2749F	possibly damaging	Het
E2f4	A	G	8: 106,026,966 (GRCm39)	K177E	probably benign	Het
Efcab5	G	A	11: 77,008,661 (GRCm39)	P819L	possibly damaging	Het
Ercc5	T	A	1: 44,220,020 (GRCm39)	S1097R	probably benign	Het
Erp44	T	C	4: 48,218,183 (GRCm39)	N162S	probably benign	Het
Evl	A	G	12: 108,652,824 (GRCm39)	Y423C	unknown	Het
Fam78a	T	A	2: 31,959,699 (GRCm39)	N137I	probably damaging	Het
Fcrl2	T	C	3: 87,164,008 (GRCm39)	N374D	possibly damaging	Het
Fcrla	T	G	1: 170,749,886 (GRCm39)	D57A	probably benign	Het
Gm7145	A	T	1: 117,913,838 (GRCm39)	H240L	probably benign	Het
Kdm5a	T	A	6: 120,408,965 (GRCm39)	N1549K	possibly damaging	Het
Kirrel1	C	T	3: 87,048,391 (GRCm39)	R9H	probably benign	Het
Klf7	T	C	1: 64,160,300 (GRCm39)		probably null	Het
Lce1d	G	A	3: 92,593,390 (GRCm39)	Q8*	probably null	Het
Lcn4	T	C	2: 26,557,906 (GRCm39)	H180R	probably benign	Het
Lmntd1	T	A	6: 145,359,301 (GRCm39)	Y283F	probably damaging	Het
Lrp1b	C	T	2: 41,172,051 (GRCm39)	R1646K		Het
Map3k21	C	A	8: 126,637,855 (GRCm39)	A147E	possibly damaging	Het
Mapk8ip2	T	C	15: 89,338,454 (GRCm39)	S11P	probably benign	Het
Mdn1	T	A	4: 32,773,375 (GRCm39)	F5518L	probably damaging	Het
Msh3	T	A	13: 92,435,770 (GRCm39)	T510S	probably benign	Het
Myh1	A	T	11: 67,111,524 (GRCm39)	Q1654H	probably damaging	Het
Ncbp3	T	C	11: 72,968,747 (GRCm39)	V506A	probably benign	Het
Nfkbiz	A	G	16: 55,642,209 (GRCm39)	S70P	probably damaging	Het
Nmi	T	C	2: 51,840,096 (GRCm39)	D215G	possibly damaging	Het
Nphp3	T	C	9: 103,895,449 (GRCm39)	S496P	probably damaging	Het
Nrp1	T	A	8: 129,158,396 (GRCm39)	C228S	probably damaging	Het
Or6c5c	A	T	10: 129,299,390 (GRCm39)	M282L	probably benign	Het
Pcdh9	C	A	14: 94,123,803 (GRCm39)	R789L	possibly damaging	Het
Pigr	A	T	1: 130,769,503 (GRCm39)	T105S	probably benign	Het
Polr2a	A	C	11: 69,636,803 (GRCm39)	S383A	probably benign	Het
Prr35	G	A	17: 26,166,934 (GRCm39)	S201L	probably damaging	Het
Psd3	T	A	8: 68,356,818 (GRCm39)	H634L	possibly damaging	Het
Ptgr2	T	G	12: 84,339,080 (GRCm39)		probably benign	Het
Ptk6	A	G	2: 180,840,254 (GRCm39)	Y251H	possibly damaging	Het
Rnf213	A	G	11: 119,321,294 (GRCm39)	T1251A		Het
Rtkn2	A	G	10: 67,877,259 (GRCm39)	K443E	probably damaging	Het
Rundc3a	T	A	11: 102,290,721 (GRCm39)	L268Q	probably damaging	Het
Serpinb5	A	G	1: 106,802,879 (GRCm39)	E138G	probably benign	Het
Shroom1	A	T	11: 53,356,075 (GRCm39)	D375V	probably benign	Het
Siglecf	A	G	7: 43,001,241 (GRCm39)	T70A	probably damaging	Het
Slc20a2	A	T	8: 23,051,416 (GRCm39)	E483V	probably benign	Het
Slc49a3	A	G	5: 108,593,394 (GRCm39)	V148A	probably benign	Het
Sort1	G	A	3: 108,258,996 (GRCm39)	G676D	probably damaging	Het
Spef2	T	C	15: 9,584,293 (GRCm39)	S1581G	probably benign	Het
Stx6	C	T	1: 155,073,130 (GRCm39)	R214*	probably null	Het
Stxbp5l	A	G	16: 36,954,703 (GRCm39)	I950T	probably benign	Het
Tdrd7	T	A	4: 46,013,239 (GRCm39)	C660S	possibly damaging	Het
Tgm4	T	A	9: 122,885,749 (GRCm39)		probably null	Het
Tmem67	T	C	4: 12,053,535 (GRCm39)	Y671C	probably damaging	Het
Ttc6	A	T	12: 57,719,717 (GRCm39)		probably null	Het
Tut7	A	G	13: 59,929,867 (GRCm39)	I1458T	possibly damaging	Het
Uba2	A	G	7: 33,850,239 (GRCm39)	S405P	possibly damaging	Het
Usp34	T	C	11: 23,382,361 (GRCm39)	I2043T		Het
Vmn1r12	T	A	6: 57,136,683 (GRCm39)	I260N	possibly damaging	Het
Vmn1r172	C	T	7: 23,360,030 (GRCm39)	T305I	unknown	Het
Vmn2r24	T	C	6: 123,792,638 (GRCm39)	V655A	probably damaging	Het
Wdr33	T	C	18: 32,019,719 (GRCm39)	S464P	probably benign	Het
Zfp260	T	A	7: 29,804,750 (GRCm39)	C217S	probably damaging	Het
Zfp760	A	G	17: 21,942,214 (GRCm39)	E463G	probably benign	Het
Zhx1	A	G	15: 57,916,696 (GRCm39)	Y517H	probably damaging	Het

Other mutations in B3gnt5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01352:B3gnt5	APN	16	19,587,963 (GRCm39)	missense	probably damaging	1.00
IGL01503:B3gnt5	APN	16	19,588,531 (GRCm39)	missense	probably damaging	1.00
IGL02623:B3gnt5	APN	16	19,588,360 (GRCm39)	missense	probably damaging	1.00
IGL02978:B3gnt5	APN	16	19,588,744 (GRCm39)	missense	probably damaging	1.00
IGL03355:B3gnt5	APN	16	19,587,903 (GRCm39)	missense	probably benign	0.01
IGL03388:B3gnt5	APN	16	19,588,801 (GRCm39)	missense	possibly damaging	0.83
R0180:B3gnt5	UTSW	16	19,587,850 (GRCm39)	missense	possibly damaging	0.48
R0973:B3gnt5	UTSW	16	19,588,760 (GRCm39)	missense	probably damaging	1.00
R0973:B3gnt5	UTSW	16	19,588,760 (GRCm39)	missense	probably damaging	1.00
R0974:B3gnt5	UTSW	16	19,588,760 (GRCm39)	missense	probably damaging	1.00
R1034:B3gnt5	UTSW	16	19,588,234 (GRCm39)	missense	probably damaging	1.00
R1435:B3gnt5	UTSW	16	19,587,924 (GRCm39)	missense	probably damaging	0.99
R1480:B3gnt5	UTSW	16	19,588,617 (GRCm39)	missense	probably damaging	1.00
R1533:B3gnt5	UTSW	16	19,588,364 (GRCm39)	missense	probably damaging	1.00
R1920:B3gnt5	UTSW	16	19,588,294 (GRCm39)	missense	probably benign	0.34
R3962:B3gnt5	UTSW	16	19,587,798 (GRCm39)	missense	probably benign	0.37
R3963:B3gnt5	UTSW	16	19,587,798 (GRCm39)	missense	probably benign	0.37
R4620:B3gnt5	UTSW	16	19,588,632 (GRCm39)	missense	probably benign	0.37
R4948:B3gnt5	UTSW	16	19,587,894 (GRCm39)	missense	probably benign
R4987:B3gnt5	UTSW	16	19,587,952 (GRCm39)	missense	probably damaging	1.00
R5027:B3gnt5	UTSW	16	19,588,444 (GRCm39)	missense	probably damaging	1.00
R6415:B3gnt5	UTSW	16	19,588,759 (GRCm39)	missense	probably damaging	1.00
R7027:B3gnt5	UTSW	16	19,588,740 (GRCm39)	missense	probably damaging	1.00
R7224:B3gnt5	UTSW	16	19,588,503 (GRCm39)	missense	probably benign	0.06
R7261:B3gnt5	UTSW	16	19,588,123 (GRCm39)	missense	probably damaging	1.00
R8818:B3gnt5	UTSW	16	19,588,347 (GRCm39)	missense	possibly damaging	0.53
Z1176:B3gnt5	UTSW	16	19,588,560 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AACTCCTGGTCCACTGAAGG -3'
(R):5'- AGATTTTGGCAGCTACATCTCTG -3'

Sequencing Primer
(F):5'- CTCCTGGTCCACTGAAGGGAAAAG -3'
(R):5'- TTGGCAGCTACATCTCTGGAGAC -3'

Posted On

2019-09-13