Mutagenetix > Incidental Mutation

Incidental Mutation 'R6554:B3galt9'

521818

Institutional Source

Beutler Lab

Gene Symbol

B3galt9

Ensembl Gene

ENSMUSG00000107167

Gene Name

beta-1,3-galactosyltransferase 9

Synonyms

Gm34653

MMRRC Submission

044679-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R6554 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34723019-34729740 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 34729276 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 358 (S358R)

Ref Sequence

ENSEMBL: ENSMUSP00000149256 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000201786]

AlphaFold

A0A1L1SR01

Predicted Effect

probably benign
Transcript: ENSMUST00000201786
AA Change: S358R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	T	6: 121,618,246 (GRCm39)	R180C	probably damaging	Het
Ces1b	C	A	8: 93,791,619 (GRCm39)	V327L	probably benign	Het
Cps1	C	T	1: 67,213,628 (GRCm39)	R787*	probably null	Het
Dmrt2	C	T	19: 25,655,312 (GRCm39)	P304S	probably damaging	Het
Dop1b	A	G	16: 93,557,346 (GRCm39)	D429G	probably benign	Het
Dync1h1	T	A	12: 110,616,282 (GRCm39)	M3111K	probably benign	Het
Dync2h1	A	G	9: 7,037,699 (GRCm39)	V3393A	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Fam184a	T	C	10: 53,517,063 (GRCm39)	D1007G	possibly damaging	Het
Flt3	A	C	5: 147,312,545 (GRCm39)	L132W	probably damaging	Het
Gm14322	G	A	2: 177,410,220 (GRCm39)	S60N	possibly damaging	Het
Katnip	C	T	7: 125,449,914 (GRCm39)	R993C	probably damaging	Het
Kcnj16	T	A	11: 110,916,131 (GRCm39)	Y264*	probably null	Het
Klkb1	T	A	8: 45,726,591 (GRCm39)	I471F	probably damaging	Het
Lrfn4	T	C	19: 4,663,914 (GRCm39)	T207A	probably damaging	Het
Mfsd4b5	T	A	10: 39,862,428 (GRCm39)	T32S	probably benign	Het
Mtbp	A	G	15: 55,430,645 (GRCm39)	D234G	probably damaging	Het
Nfix	T	C	8: 85,454,279 (GRCm39)	T218A	possibly damaging	Het
Nsd3	A	T	8: 26,152,891 (GRCm39)	E410D	probably damaging	Het
Or4g17	C	T	2: 111,209,504 (GRCm39)	S53F	possibly damaging	Het
Or5aq7	A	T	2: 86,937,970 (GRCm39)	S254T	probably benign	Het
Reln	T	C	5: 22,101,838 (GRCm39)	Y3364C	probably damaging	Het
Selplg	G	A	5: 113,958,210 (GRCm39)	P32L	probably benign	Het
Serpina1d	A	T	12: 103,731,062 (GRCm39)	H305Q	probably benign	Het
Skic8	A	T	9: 54,634,929 (GRCm39)	I88N	probably damaging	Het
Skint8	G	A	4: 111,784,413 (GRCm39)	C13Y	probably benign	Het
Smc4	G	A	3: 68,936,848 (GRCm39)	V863I	probably benign	Het
Spdl1	T	G	11: 34,713,397 (GRCm39)	N224T	possibly damaging	Het
Sprr1b	T	G	3: 92,344,420 (GRCm39)	Q152P	possibly damaging	Het
St6gal1	A	G	16: 23,140,405 (GRCm39)	N192S	probably benign	Het
Tbc1d8	T	C	1: 39,445,903 (GRCm39)	N96S	probably damaging	Het
Tbccd1	A	T	16: 22,640,874 (GRCm39)	I501K	probably damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Unk	T	C	11: 115,942,285 (GRCm39)	I293T	probably damaging	Het
Vmn2r61	A	G	7: 41,926,139 (GRCm39)	E548G	probably damaging	Het
Wdr97	A	G	15: 76,239,178 (GRCm39)	D85G	possibly damaging	Het
Zeb2	A	T	2: 44,887,524 (GRCm39)	V496E	probably damaging	Het

Other mutations in B3galt9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R5800:B3galt9	UTSW	2	34,728,654 (GRCm39)	missense	possibly damaging	0.50
R7709:B3galt9	UTSW	2	34,728,437 (GRCm39)	missense	probably damaging	1.00
R7968:B3galt9	UTSW	2	34,728,257 (GRCm39)	missense	probably damaging	1.00
R8807:B3galt9	UTSW	2	34,728,818 (GRCm39)	missense	probably damaging	0.96
R8829:B3galt9	UTSW	2	34,728,634 (GRCm39)	missense	probably benign	0.01
R8867:B3galt9	UTSW	2	34,728,636 (GRCm39)	missense	probably damaging	1.00
R9071:B3galt9	UTSW	2	34,728,435 (GRCm39)	missense	probably benign	0.00
R9076:B3galt9	UTSW	2	34,729,209 (GRCm39)	missense	probably damaging	0.99
R9138:B3galt9	UTSW	2	34,728,920 (GRCm39)	missense	probably damaging	1.00
R9380:B3galt9	UTSW	2	34,729,029 (GRCm39)	missense	probably damaging	1.00
R9443:B3galt9	UTSW	2	34,728,623 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCTGGGGAAAGACACATCAC -3'
(R):5'- CTAACATGGGCCCAGAGAGTTG -3'

Sequencing Primer
(F):5'- TCACATATAACAGATGCTGCTACAAG -3'
(R):5'- CCCAGAGAGTTGCCTTCTGTAATAG -3'

Posted On

2018-06-06