Mutagenetix > Incidental Mutation

Incidental Mutation 'R2846:Gal3st2c'

251563

Institutional Source

Beutler Lab

Gene Symbol

Gal3st2c

Ensembl Gene

ENSMUSG00000073608

Gene Name

galactose-3-O-sulfotransferase 2C

Synonyms

Gm6086

MMRRC Submission

040439-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R2846 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

93918227-93939261 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93924122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 8 (Q8L)

Ref Sequence

ENSEMBL: ENSMUSP00000095234 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097632]

AlphaFold

Q3ULK5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097632
AA Change: Q8L

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000095234
Gene: ENSMUSG00000073608
AA Change: Q8L

Domain	Start	End	E-Value	Type
Pfam:Gal-3-0_sulfotr	1	382	8.4e-150	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg4a	G	A	X: 139,893,589 (GRCm39)	E106K	probably benign	Het
Bahd1	G	A	2: 118,753,004 (GRCm39)	R757H	probably damaging	Het
Cdnf	T	A	2: 3,514,165 (GRCm39)	M1K	probably null	Het
Ddx4	T	A	13: 112,741,146 (GRCm39)	K496M	probably damaging	Het
Dlg1	T	C	16: 31,682,015 (GRCm39)	S779P	probably damaging	Het
Dtna	T	A	18: 23,784,560 (GRCm39)		probably null	Het
Fhad1	G	T	4: 141,632,279 (GRCm39)	Q1287K	probably benign	Het
Hsd3b1	T	C	3: 98,760,094 (GRCm39)	E299G	probably damaging	Het
Hydin	T	C	8: 111,245,746 (GRCm39)	V2153A	probably benign	Het
Irs4	C	A	X: 140,507,336 (GRCm39)	G287W	probably damaging	Het
Kif21a	T	C	15: 90,818,667 (GRCm39)	I1570V	probably benign	Het
Kremen1	GG	GGGCG	11: 5,151,793 (GRCm39)		probably benign	Het
Mark2	T	C	19: 7,264,227 (GRCm39)	E116G	probably damaging	Het
Mfsd13a	C	T	19: 46,360,431 (GRCm39)	R328C	probably damaging	Het
Mindy4	T	C	6: 55,255,085 (GRCm39)	V521A	probably damaging	Het
Or10al3	T	C	17: 38,011,714 (GRCm39)	I51T	probably damaging	Het
Or1e25	A	T	11: 73,494,209 (GRCm39)	T268S	probably benign	Het
Pdgfrb	C	T	18: 61,197,088 (GRCm39)	P175S	probably benign	Het
Pign	C	A	1: 105,585,521 (GRCm39)	L9F	possibly damaging	Het
Plekha1	G	T	7: 130,510,095 (GRCm39)	W280C	probably damaging	Het
Ppfia3	C	A	7: 45,005,852 (GRCm39)	R348L	probably damaging	Het
Prr12	G	C	7: 44,695,436 (GRCm39)	S1343R	unknown	Het
Psmd13	C	A	7: 140,477,653 (GRCm39)		probably benign	Het
Qpct	A	G	17: 79,378,171 (GRCm39)	T114A	probably damaging	Het
Sec24d	A	G	3: 123,144,395 (GRCm39)	D624G	probably damaging	Het
Shank2	A	G	7: 143,623,792 (GRCm39)	Y259C	probably damaging	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Smarcb1	C	A	10: 75,733,375 (GRCm39)	R332L	probably damaging	Het
Ssh3	T	C	19: 4,315,324 (GRCm39)	Y338C	probably damaging	Het
St18	T	A	1: 6,915,811 (GRCm39)	C819S	probably damaging	Het
Tas2r124	A	G	6: 132,732,230 (GRCm39)	N180D	possibly damaging	Het
Tgfbr3l	A	G	8: 4,299,280 (GRCm39)	D49G	probably damaging	Het
Tmem204	G	A	17: 25,299,307 (GRCm39)	H71Y	probably benign	Het
Vmn1r212	A	G	13: 23,068,262 (GRCm39)	S24P	probably damaging	Het
Vmn2r6	A	G	3: 64,464,211 (GRCm39)	S208P	possibly damaging	Het
Zbtb8os	A	T	4: 129,235,309 (GRCm39)	E54D	probably damaging	Het
Zmiz1	A	G	14: 25,646,099 (GRCm39)	S259G	probably benign	Het

Other mutations in Gal3st2c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00468:Gal3st2c	APN	1	93,936,771 (GRCm39)	missense	probably benign	0.38
IGL01469:Gal3st2c	APN	1	93,937,039 (GRCm39)	missense	probably benign	0.18
PIT4431001:Gal3st2c	UTSW	1	93,935,834 (GRCm39)	missense	probably damaging	1.00
R0110:Gal3st2c	UTSW	1	93,937,219 (GRCm39)	missense	probably benign	0.03
R0602:Gal3st2c	UTSW	1	93,936,901 (GRCm39)	missense	probably damaging	1.00
R0846:Gal3st2c	UTSW	1	93,934,669 (GRCm39)	missense	possibly damaging	0.51
R1577:Gal3st2c	UTSW	1	93,934,650 (GRCm39)	missense	probably damaging	0.98
R1900:Gal3st2c	UTSW	1	93,936,766 (GRCm39)	missense	probably damaging	1.00
R1902:Gal3st2c	UTSW	1	93,936,611 (GRCm39)	missense	probably damaging	1.00
R2143:Gal3st2c	UTSW	1	93,937,173 (GRCm39)	nonsense	probably null
R3737:Gal3st2c	UTSW	1	93,937,050 (GRCm39)	missense	possibly damaging	0.79
R4236:Gal3st2c	UTSW	1	93,936,463 (GRCm39)	missense	probably damaging	1.00
R4623:Gal3st2c	UTSW	1	93,937,178 (GRCm39)	missense	possibly damaging	0.59
R5177:Gal3st2c	UTSW	1	93,936,930 (GRCm39)	nonsense	probably null
R5590:Gal3st2c	UTSW	1	93,936,023 (GRCm39)	critical splice donor site	probably null
R7529:Gal3st2c	UTSW	1	93,937,039 (GRCm39)	missense	probably benign	0.18
R7559:Gal3st2c	UTSW	1	93,937,075 (GRCm39)	missense	probably damaging	1.00
R9525:Gal3st2c	UTSW	1	93,935,928 (GRCm39)	missense	probably damaging	1.00
Z1088:Gal3st2c	UTSW	1	93,935,867 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CCAGTAGGTAAGCTTCCTAGGG -3'
(R):5'- AAAAGGCTCTCCTGTCCCAAG -3'

Sequencing Primer
(F):5'- AGCTTCCTAGGGATTTAAGTTCAG -3'
(R):5'- TCCTGTCCCAAGTGAAACTGG -3'

Posted On

2014-12-04