Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00468:Gal3st2c'

7407

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gal3st2c

Ensembl Gene

ENSMUSG00000073608

Gene Name

galactose-3-O-sulfotransferase 2C

Synonyms

Gm6086

Accession Numbers

Essential gene?

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

Stock #

IGL00468

Quality Score

Status

Chromosome

Chromosomal Location

93918227-93939261 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93936771 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 239 (R239G)

Ref Sequence

ENSEMBL: ENSMUSP00000095234 (fasta)

Gene Model

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

AlphaFold

Q3ULK5

Predicted Effect

probably benign
Transcript: ENSMUST00000097632
AA Change: R239G

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000095234
Gene: ENSMUSG00000073608
AA Change: R239G

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,630,453 (GRCm39)	E123G	probably damaging	Het
Alpk2	A	T	18: 65,438,894 (GRCm39)	L1300Q	probably benign	Het
Armc9	T	C	1: 86,126,061 (GRCm39)	Y51H	probably damaging	Het
Bcl11b	A	G	12: 107,932,074 (GRCm39)	V166A	possibly damaging	Het
Cfap70	T	A	14: 20,462,530 (GRCm39)	D565V	possibly damaging	Het
Cops5	C	A	1: 10,104,295 (GRCm39)	G132W	probably damaging	Het
Dync1i1	G	A	6: 5,972,135 (GRCm39)	V468M	probably damaging	Het
Fasn	A	C	11: 120,711,365 (GRCm39)	D216E	probably damaging	Het
Fktn	T	A	4: 53,734,866 (GRCm39)	I168K	probably benign	Het
Glt6d1	A	C	2: 25,701,041 (GRCm39)	L36R	probably damaging	Het
Herc3	A	G	6: 58,895,751 (GRCm39)	I1000V	probably benign	Het
Hycc2	T	G	1: 58,569,391 (GRCm39)	E396A	probably benign	Het
Kif14	G	A	1: 136,396,756 (GRCm39)	S354N	probably benign	Het
Lhcgr	C	T	17: 89,049,874 (GRCm39)	V551I	probably benign	Het
Lmna	G	T	3: 88,391,991 (GRCm39)	S437R	probably benign	Het
Lrrc49	A	G	9: 60,595,151 (GRCm39)		probably benign	Het
Lrriq3	A	G	3: 154,806,816 (GRCm39)	D155G	probably damaging	Het
Mcf2	G	A	X: 59,179,095 (GRCm39)	T104I	probably damaging	Het
Men1	G	A	19: 6,387,237 (GRCm39)		probably null	Het
Mipep	A	G	14: 61,112,709 (GRCm39)	E664G	probably benign	Het
Mybpc1	A	T	10: 88,385,124 (GRCm39)	V519D	probably damaging	Het
Nfil3	C	A	13: 53,121,610 (GRCm39)	L431F	probably damaging	Het
Sctr	T	A	1: 119,972,450 (GRCm39)	V197E	probably damaging	Het
Sesn2	T	C	4: 132,227,124 (GRCm39)	T103A	probably benign	Het
Sptbn4	A	T	7: 27,117,390 (GRCm39)	V453D	probably damaging	Het
Supt5	A	T	7: 28,014,807 (GRCm39)	H1023Q	probably benign	Het
Tcof1	T	C	18: 60,947,640 (GRCm39)		probably benign	Het
Tekt2	T	A	4: 126,216,982 (GRCm39)	E262D	possibly damaging	Het
Tenm4	T	A	7: 96,523,679 (GRCm39)	H1732Q	probably damaging	Het
Tln2	T	C	9: 67,251,469 (GRCm39)	D840G	possibly damaging	Het
Tox4	A	G	14: 52,523,202 (GRCm39)	D54G	probably damaging	Het

Other mutations in Gal3st2c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R2846:Gal3st2c	UTSW	1	93,924,122 (GRCm39)	missense	possibly damaging	0.52
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

Posted On

2012-04-20