Mutagenetix > Incidental Mutation

Incidental Mutation 'R1600:B3gntl1'

176103

Institutional Source

Beutler Lab

Gene Symbol

B3gntl1

Ensembl Gene

ENSMUSG00000046605

Gene Name

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

Synonyms

6030413G23Rik

MMRRC Submission

039637-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.191) question?

Stock #

R1600 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121507023-121563979 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121521662 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 175 (M175T)

Ref Sequence

ENSEMBL: ENSMUSP00000068590 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062654] [ENSMUST00000067399]

AlphaFold

Q3U129

Predicted Effect

probably damaging
Transcript: ENSMUST00000062654
AA Change: M175T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000049890
Gene: ENSMUSG00000046605
AA Change: M175T

Domain	Start	End	E-Value	Type
Pfam:Glyco_tranf_2_3	14	244	3e-13	PFAM
Pfam:Glycos_transf_2	17	189	2.2e-24	PFAM
Pfam:Glyco_tranf_2_2	17	237	9.5e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000067399
AA Change: M175T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000068590
Gene: ENSMUSG00000046605
AA Change: M175T

Domain	Start	End	E-Value	Type
Pfam:Glyco_tranf_2_3	14	245	1.4e-10	PFAM
Pfam:Glycos_transf_2	17	189	1.2e-23	PFAM
Pfam:Glyco_tranf_2_2	17	248	2.1e-8	PFAM

Meta Mutation Damage Score

0.3243

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

85% (41/48)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	T	C	14: 54,881,174 (GRCm39)		probably benign	Het
Acot3	C	T	12: 84,105,484 (GRCm39)	A317V	probably benign	Het
Ahrr	T	C	13: 74,362,497 (GRCm39)	D334G	probably benign	Het
Alpk2	C	T	18: 65,511,108 (GRCm39)	V30M	probably damaging	Het
Arhgef25	G	T	10: 127,021,158 (GRCm39)	H281N	probably damaging	Het
Brca2	T	A	5: 150,484,295 (GRCm39)		probably benign	Het
Ccnj	A	T	19: 40,833,101 (GRCm39)		probably benign	Het
Cebpzos	A	G	17: 79,225,817 (GRCm39)	K11E	probably damaging	Het
Col6a6	A	G	9: 105,655,274 (GRCm39)	S816P	probably damaging	Het
Cul4a	A	G	8: 13,173,954 (GRCm39)	R64G	probably damaging	Het
Cul7	C	A	17: 46,962,748 (GRCm39)	C126*	probably null	Het
Ercc2	T	C	7: 19,119,866 (GRCm39)	Y176H	probably benign	Het
Frem2	T	G	3: 53,455,144 (GRCm39)	D2144A	probably damaging	Het
Gabrg3	A	T	7: 56,384,822 (GRCm39)	Y246*	probably null	Het
Gpatch2l	T	C	12: 86,303,708 (GRCm39)		probably null	Het
Grk1	A	G	8: 13,455,406 (GRCm39)	T97A	probably benign	Het
Hmcn2	A	G	2: 31,320,799 (GRCm39)	E4004G	probably damaging	Het
Kcnu1	A	T	8: 26,339,821 (GRCm39)	R46S	probably damaging	Het
Lrrfip1	T	C	1: 91,042,389 (GRCm39)	S265P	probably damaging	Het
Lyve1	A	G	7: 110,452,902 (GRCm39)		probably null	Het
Mme	A	G	3: 63,272,479 (GRCm39)	Y659C	probably damaging	Het
Mrs2	G	T	13: 25,179,393 (GRCm39)	N299K	possibly damaging	Het
Mtnr1b	T	C	9: 15,774,615 (GRCm39)	Y148C	probably damaging	Het
Myo5b	T	A	18: 74,846,611 (GRCm39)		probably benign	Het
Neb	A	G	2: 52,161,616 (GRCm39)	Y2059H	probably damaging	Het
Nkain3	T	C	4: 20,469,528 (GRCm39)		probably benign	Het
Peg10	A	T	6: 4,757,080 (GRCm39)		probably benign	Het
Pramel20	A	G	4: 143,298,537 (GRCm39)	E160G	possibly damaging	Het
Rufy2	A	G	10: 62,842,450 (GRCm39)	T458A	probably benign	Het
Sec14l1	G	A	11: 117,041,430 (GRCm39)	V448I	probably benign	Het
Tbx19	C	T	1: 164,970,136 (GRCm39)	G251D	possibly damaging	Het
Tcstv7b	T	C	13: 120,702,369 (GRCm39)	V55A	probably benign	Het
Trappc9	G	A	15: 72,808,958 (GRCm39)	Q711*	probably null	Het
Trpm3	A	G	19: 22,116,519 (GRCm39)	R13G	probably benign	Het
Usp33	G	T	3: 152,085,247 (GRCm39)	A628S	probably damaging	Het
Vps13a	T	C	19: 16,643,636 (GRCm39)	N2080S	probably benign	Het
Wdr45b	A	T	11: 121,221,015 (GRCm39)	I221N	probably damaging	Het
Zfp119a	A	T	17: 56,175,355 (GRCm39)	W47R	possibly damaging	Het
Zswim9	A	G	7: 13,003,497 (GRCm39)	C118R	probably damaging	Het

Other mutations in B3gntl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01573:B3gntl1	APN	11	121,561,789 (GRCm39)	missense	probably damaging	1.00
IGL01640:B3gntl1	APN	11	121,563,846 (GRCm39)	missense	probably benign
IGL02609:B3gntl1	APN	11	121,535,427 (GRCm39)	splice site	probably benign
R0370:B3gntl1	UTSW	11	121,514,980 (GRCm39)	missense	probably damaging	1.00
R0394:B3gntl1	UTSW	11	121,510,541 (GRCm39)	missense	probably damaging	1.00
R0469:B3gntl1	UTSW	11	121,563,851 (GRCm39)	missense	probably benign
R0520:B3gntl1	UTSW	11	121,514,314 (GRCm39)	missense	possibly damaging	0.89
R0541:B3gntl1	UTSW	11	121,535,430 (GRCm39)	splice site	probably benign
R1460:B3gntl1	UTSW	11	121,530,624 (GRCm39)	missense	probably damaging	1.00
R1961:B3gntl1	UTSW	11	121,535,351 (GRCm39)	critical splice donor site	probably null
R4884:B3gntl1	UTSW	11	121,520,795 (GRCm39)	missense	possibly damaging	0.83
R5779:B3gntl1	UTSW	11	121,542,502 (GRCm39)	splice site	probably null
R7387:B3gntl1	UTSW	11	121,520,741 (GRCm39)	missense	possibly damaging	0.87
R7421:B3gntl1	UTSW	11	121,515,004 (GRCm39)	missense	probably benign	0.18
R7506:B3gntl1	UTSW	11	121,561,740 (GRCm39)	missense	probably damaging	1.00
R7654:B3gntl1	UTSW	11	121,542,439 (GRCm39)	missense	probably damaging	1.00
R7715:B3gntl1	UTSW	11	121,530,622 (GRCm39)	missense	possibly damaging	0.93
R8809:B3gntl1	UTSW	11	121,521,690 (GRCm39)	missense	possibly damaging	0.83
R9245:B3gntl1	UTSW	11	121,514,770 (GRCm39)	missense	possibly damaging	0.68
R9577:B3gntl1	UTSW	11	121,515,040 (GRCm39)	missense	probably benign	0.00
R9770:B3gntl1	UTSW	11	121,521,652 (GRCm39)	nonsense	probably null
Z1177:B3gntl1	UTSW	11	121,530,640 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTGCTGGAAAGAGGCTGAATTTCCC -3'
(R):5'- TGCTTAGCAATGCAGAGTGGCGAC -3'

Sequencing Primer
(F):5'- GAGGCTGAATTTCCCAAACTCTG -3'
(R):5'- GAAGTGGCCTCAGTTAATTTCC -3'

Posted On

2014-04-24