Mutagenetix > Incidental Mutation

Incidental Mutation 'R1671:Gal3st2'

187592

Institutional Source

Beutler Lab

Gene Symbol

Gal3st2

Ensembl Gene

ENSMUSG00000094651

Gene Name

galactose-3-O-sulfotransferase 2

Synonyms

LOC381334

MMRRC Submission

039707-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R1671 (G1)

Quality Score

126

Status

Validated

Chromosome

Chromosomal Location

93861306-93876494 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 93873678 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 19 (R19C)

Ref Sequence

ENSEMBL: ENSMUSP00000140697 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094663] [ENSMUST00000187896]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000094663
AA Change: R68C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000092250
Gene: ENSMUSG00000094651
AA Change: R68C

Domain	Start	End	E-Value	Type
Pfam:Gal-3-0_sulfotr	1	382	1.3e-151	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000187896
AA Change: R19C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140697
Gene: ENSMUSG00000094651
AA Change: R19C

Domain	Start	End	E-Value	Type
Pfam:Gal-3-0_sulfotr	1	67	2.4e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190710

Meta Mutation Damage Score

0.8359

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	A	C	14: 63,973,188 (GRCm38)	L197R	probably benign	Het
Arglu1	A	G	8: 8,683,896 (GRCm38)	V140A	possibly damaging	Het
Arhgef28	T	C	13: 97,931,034 (GRCm38)	E1461G	possibly damaging	Het
Best3	A	T	10: 117,024,668 (GRCm38)	D611V	possibly damaging	Het
Cenpf	T	C	1: 189,679,144 (GRCm38)		probably null	Het
Cenpj	A	C	14: 56,565,045 (GRCm38)	M21R	probably damaging	Het
Cltc	A	T	11: 86,732,595 (GRCm38)	H201Q	possibly damaging	Het
Col28a1	A	T	6: 8,083,773 (GRCm38)	N561K	possibly damaging	Het
Cyp2c70	G	A	19: 40,153,637 (GRCm38)	P470L	probably damaging	Het
Cyp4f14	G	A	17: 32,916,909 (GRCm38)		probably benign	Het
Ddi1	A	T	9: 6,266,225 (GRCm38)	V48D	possibly damaging	Het
Dnah11	A	C	12: 117,916,788 (GRCm38)	Y3866D	probably damaging	Het
Dnah9	A	G	11: 65,927,963 (GRCm38)	V3183A	probably damaging	Het
Elmo1	T	A	13: 20,287,884 (GRCm38)		probably benign	Het
Fap	T	A	2: 62,553,835 (GRCm38)	Y9F	possibly damaging	Het
Fbxo15	T	A	18: 84,959,106 (GRCm38)	S93T	possibly damaging	Het
Gmnn	A	T	13: 24,752,071 (GRCm38)	*207R	probably null	Het
Gucy1a1	A	C	3: 82,106,222 (GRCm38)	I371S	probably damaging	Het
H1f11-ps	C	A	19: 47,170,855 (GRCm38)	V94L	possibly damaging	Het
Igsf10	G	T	3: 59,328,500 (GRCm38)	S1420*	probably null	Het
Itih5	G	T	2: 10,186,971 (GRCm38)	V106L	probably benign	Het
Itsn1	T	A	16: 91,812,150 (GRCm38)	I201K	probably damaging	Het
Kirrel1	C	T	3: 87,089,151 (GRCm38)	M380I	probably null	Het
Lars2	C	T	9: 123,418,279 (GRCm38)	T283I	probably benign	Het
Loxhd1	T	C	18: 77,404,802 (GRCm38)	I1313T	probably damaging	Het
Mamdc4	T	A	2: 25,568,223 (GRCm38)	R368*	probably null	Het
Mdga1	A	T	17: 29,850,629 (GRCm38)	Y422N	probably damaging	Het
Mro	A	T	18: 73,870,055 (GRCm38)		probably benign	Het
Mroh2b	T	C	15: 4,951,294 (GRCm38)		probably null	Het
Nlrp1b	C	A	11: 71,201,259 (GRCm38)	V14L	probably benign	Het
Nos3	A	G	5: 24,383,840 (GRCm38)	D1157G	probably damaging	Het
Nrxn2	C	A	19: 6,473,750 (GRCm38)	R598S	probably damaging	Het
Or2av9	A	T	11: 58,490,609 (GRCm38)	W49R	possibly damaging	Het
Or4k1	T	C	14: 50,139,833 (GRCm38)	K269E	probably damaging	Het
Or52ae9	C	A	7: 103,740,410 (GRCm38)	A277S	possibly damaging	Het
Or8b101	A	G	9: 38,109,132 (GRCm38)	M144V	probably benign	Het
Otog	A	T	7: 46,261,786 (GRCm38)	D687V	probably damaging	Het
Pcsk5	C	T	19: 17,454,868 (GRCm38)	C1461Y	probably damaging	Het
Raet1d	A	G	10: 22,362,715 (GRCm38)	M1V	probably null	Het
Rnf6	A	T	5: 146,211,188 (GRCm38)	L340*	probably null	Het
Rsl1d1	T	C	16: 11,201,381 (GRCm38)	T99A	probably damaging	Het
Sbno1	A	T	5: 124,392,067 (GRCm38)		probably null	Het
Sipa1l1	A	G	12: 82,397,461 (GRCm38)	Y982C	probably damaging	Het
Sorbs3	G	T	14: 70,191,466 (GRCm38)	R417S	possibly damaging	Het
Sorl1	A	G	9: 41,974,000 (GRCm38)	C2102R	probably damaging	Het
Sp140l2	C	T	1: 85,257,385 (GRCm38)		probably null	Het
Sptbn1	T	A	11: 30,142,245 (GRCm38)	I494F	possibly damaging	Het
Tank	T	A	2: 61,649,753 (GRCm38)	V211E	probably damaging	Het
Tbcd	T	A	11: 121,597,294 (GRCm38)	D840E	probably benign	Het
Tg	T	A	15: 66,692,387 (GRCm38)	C1146S	possibly damaging	Het
Tiam2	A	T	17: 3,506,834 (GRCm38)	E110V	probably damaging	Het
Tle4	A	T	19: 14,453,739 (GRCm38)	W560R	probably damaging	Het
Triml2	G	A	8: 43,183,743 (GRCm38)	R76H	possibly damaging	Het
Ttn	T	C	2: 76,711,620 (GRCm38)	E25347G	probably damaging	Het
Ube2e2	A	G	14: 18,586,889 (GRCm38)	L124P	probably damaging	Het
Vmn2r81	A	G	10: 79,267,431 (GRCm38)	K153E	probably benign	Het
Wnt16	A	T	6: 22,298,179 (GRCm38)	Y348F	probably damaging	Het
Xpo6	A	G	7: 126,108,543 (GRCm38)	V897A	possibly damaging	Het
Zbtb26	T	C	2: 37,436,365 (GRCm38)	T220A	probably benign	Het
Zik1	A	T	7: 10,490,748 (GRCm38)	S141T	probably damaging	Het
Zkscan3	A	G	13: 21,396,135 (GRCm38)	Y128H	possibly damaging	Het

Other mutations in Gal3st2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02066:Gal3st2	APN	1	93,873,657 (GRCm38)	missense	probably damaging	1.00
G1patch:Gal3st2	UTSW	1	93,873,702 (GRCm38)	missense	probably benign	0.05
R1738:Gal3st2	UTSW	1	93,874,596 (GRCm38)	splice site	probably null
R4688:Gal3st2	UTSW	1	93,872,523 (GRCm38)	missense	probably damaging	0.97
R5873:Gal3st2	UTSW	1	93,873,750 (GRCm38)	missense	probably benign	0.03
R5985:Gal3st2	UTSW	1	93,873,613 (GRCm38)	missense	possibly damaging	0.70
R6725:Gal3st2	UTSW	1	93,873,702 (GRCm38)	missense	probably benign	0.05
R7009:Gal3st2	UTSW	1	93,873,759 (GRCm38)	missense	probably benign	0.01
R7067:Gal3st2	UTSW	1	93,874,725 (GRCm38)	missense	possibly damaging	0.82
R7452:Gal3st2	UTSW	1	93,872,518 (GRCm38)	missense	possibly damaging	0.46
R9041:Gal3st2	UTSW	1	93,872,484 (GRCm38)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- TCAGTCACAGAGAATCCCTTGGACC -3'
(R):5'- ACAGGCCATTGGCAGCCTAAAC -3'

Sequencing Primer
(F):5'- CCTTGGACCTAAAGACTACAGAGTG -3'
(R):5'- TGGGAGCCCCATAGTTACAC -3'

Posted On

2014-05-09