Mutagenetix > Incidental Mutation

Incidental Mutation 'R1086:B3gnt8'

85024

Institutional Source

Beutler Lab

Gene Symbol

B3gnt8

Ensembl Gene

ENSMUSG00000059479

Gene Name

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8

Synonyms

B3galt7

MMRRC Submission

039172-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R1086 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25327025-25328917 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 25327736 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 55 (N55K)

Ref Sequence

ENSEMBL: ENSMUSP00000145797 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071329] [ENSMUST00000076034] [ENSMUST00000077338] [ENSMUST00000085953] [ENSMUST00000126925] [ENSMUST00000205281] [ENSMUST00000205808] [ENSMUST00000206940]

AlphaFold

Q8R3I9

Predicted Effect

probably benign
Transcript: ENSMUST00000071329

SMART Domains

Protein: ENSMUSP00000071292
Gene: ENSMUSG00000060376

Domain	Start	End	E-Value	Type
low complexity region	14	36	N/A	INTRINSIC
Pfam:E1_dh	107	407	2.9e-117	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000076034
AA Change: N55K

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

SMART Domains

Protein: ENSMUSP00000092277
Gene: ENSMUSG00000059479
AA Change: N55K

Domain	Start	End	E-Value	Type
low complexity region	8	19	N/A	INTRINSIC
Pfam:Galactosyl_T	154	344	2.9e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000077338

SMART Domains

Protein: ENSMUSP00000076563
Gene: ENSMUSG00000057229

Domain	Start	End	E-Value	Type
PDB:3E4G\|A	82	213	2e-10	PDB
SCOP:d1fqva2	109	209	2e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000085953

SMART Domains

Protein: ENSMUSP00000083115
Gene: ENSMUSG00000057229

Domain	Start	End	E-Value	Type
PDB:3E4G\|A	81	212	3e-10	PDB
SCOP:d1fqva2	108	208	3e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126925

Predicted Effect

probably damaging
Transcript: ENSMUST00000205281
AA Change: N55K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000205808

Predicted Effect

probably damaging
Transcript: ENSMUST00000206940
AA Change: N55K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206824

Meta Mutation Damage Score

0.0926

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.3%
20x: 94.4%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,334,220 (GRCm39)		probably benign	Het
Agbl4	G	C	4: 110,335,791 (GRCm39)		probably benign	Het
Ano6	T	C	15: 95,847,843 (GRCm39)		probably null	Het
Brox	A	G	1: 183,064,052 (GRCm39)	Y252H	probably damaging	Het
Cfap100	T	A	6: 90,380,890 (GRCm39)	K605*	probably null	Het
Chd7	A	G	4: 8,866,458 (GRCm39)	T877A	probably benign	Het
Csmd3	T	A	15: 47,559,151 (GRCm39)	I2371F	probably damaging	Het
Cwc22	T	A	2: 77,754,824 (GRCm39)		probably benign	Het
Cyp2s1	A	T	7: 25,505,422 (GRCm39)	D347E	probably damaging	Het
Dab1	C	A	4: 104,185,769 (GRCm39)		probably benign	Het
Dis3l2	G	A	1: 86,917,871 (GRCm39)	D493N	probably benign	Het
Got1l1	A	G	8: 27,688,007 (GRCm39)	W341R	probably damaging	Het
Gps2	A	G	11: 69,806,050 (GRCm39)		probably benign	Het
Haus1	A	C	18: 77,854,553 (GRCm39)		probably benign	Het
Itgam	T	C	7: 127,679,436 (GRCm39)	S193P	probably damaging	Het
Itpr2	C	A	6: 146,251,543 (GRCm39)	A1034S	probably damaging	Het
Lrp5	T	C	19: 3,699,476 (GRCm39)	R270G	probably benign	Het
Ltbr	G	A	6: 125,289,703 (GRCm39)		probably benign	Het
Mdga2	T	C	12: 66,552,876 (GRCm39)		probably benign	Het
Mug1	T	A	6: 121,862,813 (GRCm39)	M1387K	probably damaging	Het
Nwd2	C	T	5: 63,963,917 (GRCm39)	S1167L	probably damaging	Het
Or5h19	T	A	16: 58,856,626 (GRCm39)	H158L	probably damaging	Het
Pfkm	T	C	15: 98,029,546 (GRCm39)	V719A	probably benign	Het
Ppfia3	C	G	7: 45,011,182 (GRCm39)	G16A	probably damaging	Het
Ppp2r3d	G	A	9: 101,031,021 (GRCm39)	T245I	possibly damaging	Het
Ptprd	T	C	4: 76,051,495 (GRCm39)	T256A	probably damaging	Het
Ptprg	C	T	14: 11,952,706 (GRCm38)		probably benign	Het
Rabgap1	T	C	2: 37,359,458 (GRCm39)	V7A	probably damaging	Het
Rnh1	T	G	7: 140,743,282 (GRCm39)	Q231P	probably benign	Het
Rwdd2b	C	T	16: 87,233,446 (GRCm39)		probably benign	Het
Saal1	T	C	7: 46,338,883 (GRCm39)		probably benign	Het
Sap130	G	A	18: 31,783,673 (GRCm39)		probably benign	Het
Serpina1d	T	G	12: 103,730,046 (GRCm39)	M379L	probably benign	Het
Skor2	A	C	18: 76,946,994 (GRCm39)	S239R	unknown	Het
Slc16a13	A	G	11: 70,109,850 (GRCm39)	L217P	probably damaging	Het
Slc18b1	T	C	10: 23,679,693 (GRCm39)	M74T	probably benign	Het
Speer4e2	T	C	5: 15,028,804 (GRCm39)	D29G	probably benign	Het
Tacc2	A	T	7: 130,228,227 (GRCm39)	E1637D	possibly damaging	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tg	A	C	15: 66,555,911 (GRCm39)	I868L	probably benign	Het
Ttll5	G	A	12: 85,937,853 (GRCm39)	V395I	possibly damaging	Het
Uba6	C	A	5: 86,275,578 (GRCm39)	C739F	probably benign	Het
Unc5d	A	C	8: 29,365,658 (GRCm39)	V109G	possibly damaging	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het
Zfp462	G	T	4: 55,013,000 (GRCm39)	K507N	probably damaging	Het

Other mutations in B3gnt8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01788:B3gnt8	APN	7	25,328,613 (GRCm39)	missense	probably damaging	0.99
IGL01998:B3gnt8	APN	7	25,328,203 (GRCm39)	missense	probably damaging	0.99
R1826:B3gnt8	UTSW	7	25,328,188 (GRCm39)	missense	probably damaging	1.00
R2197:B3gnt8	UTSW	7	25,328,373 (GRCm39)	missense	probably benign	0.33
R4916:B3gnt8	UTSW	7	25,328,308 (GRCm39)	missense	probably damaging	0.96
R5294:B3gnt8	UTSW	7	25,328,191 (GRCm39)	missense	probably damaging	1.00
R6879:B3gnt8	UTSW	7	25,328,277 (GRCm39)	missense	probably benign	0.30
R7287:B3gnt8	UTSW	7	25,328,395 (GRCm39)	missense	probably damaging	0.99
R7632:B3gnt8	UTSW	7	25,327,860 (GRCm39)	missense	possibly damaging	0.84
R8903:B3gnt8	UTSW	7	25,328,659 (GRCm39)	missense	probably benign
R9239:B3gnt8	UTSW	7	25,327,676 (GRCm39)	frame shift	probably null
R9578:B3gnt8	UTSW	7	25,328,089 (GRCm39)	missense	probably damaging	0.99
Z1088:B3gnt8	UTSW	7	25,327,575 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAGACTTCTGTGGCTCCTTGTGAC -3'
(R):5'- AGTGTCCTGGTTCTGATTTGACAGC -3'

Sequencing Primer
(F):5'- GACTCTTGCAGCCCCACTG -3'
(R):5'- GGGTACATCCTTATCAGAGCAGC -3'

Posted On

2013-11-18