Mutagenetix > Incidental Mutation

Incidental Mutation 'R1577:Gal3st2c'

171196

Institutional Source

Beutler Lab

Gene Symbol

Gal3st2c

Ensembl Gene

ENSMUSG00000073608

Gene Name

galactose-3-O-sulfotransferase 2C

Synonyms

Gm6086

MMRRC Submission

039615-MU

Accession Numbers

Essential gene?

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

Stock #

R1577 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

93918227-93939261 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 93934650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 13 (V13M)

Ref Sequence

ENSEMBL: ENSMUSP00000095234 (fasta)

Gene Model

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

AlphaFold

Q3ULK5

Predicted Effect

probably damaging
Transcript: ENSMUST00000097632
AA Change: V13M

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095234
Gene: ENSMUSG00000073608
AA Change: V13M

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

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.6%
20x: 87.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	T	C	1: 25,133,264 (GRCm39)	N404S	possibly damaging	Het
Cep85	T	C	4: 133,879,599 (GRCm39)	E383G	probably damaging	Het
Chst4	A	T	8: 110,756,476 (GRCm39)	H379Q	probably benign	Het
Clca3b	A	T	3: 144,529,280 (GRCm39)	I798N	probably damaging	Het
Cldnd1	T	G	16: 58,553,016 (GRCm39)	L159R	possibly damaging	Het
Cntnap3	T	C	13: 64,906,104 (GRCm39)	E834G	probably damaging	Het
Col2a1	C	T	15: 97,877,083 (GRCm39)	R1065Q	probably damaging	Het
Dchs1	T	C	7: 105,415,162 (GRCm39)	D674G	probably damaging	Het
Dntt	A	G	19: 41,044,224 (GRCm39)	Y463C	probably damaging	Het
Egfr	A	G	11: 16,819,241 (GRCm39)	E257G	probably benign	Het
Eif4b	C	T	15: 101,998,336 (GRCm39)	R339*	probably null	Het
Fat1	C	T	8: 45,476,420 (GRCm39)	T1822M	probably benign	Het
Fgd3	T	C	13: 49,435,413 (GRCm39)	N282D	probably damaging	Het
Fmo4	T	C	1: 162,631,269 (GRCm39)	M233V	possibly damaging	Het
Gabbr2	T	A	4: 46,684,319 (GRCm39)	M652L	probably benign	Het
Gapvd1	C	T	2: 34,599,240 (GRCm39)	G686D	probably damaging	Het
Gdap1l1	T	G	2: 163,280,524 (GRCm39)	L20R	probably damaging	Het
Gm5800	A	T	14: 51,952,016 (GRCm39)	M82K	probably benign	Het
Grm6	T	A	11: 50,753,972 (GRCm39)	C759S	probably damaging	Het
Hs3st1	A	T	5: 39,772,393 (GRCm39)	D83E	probably benign	Het
Il12rb1	A	G	8: 71,263,250 (GRCm39)	D39G	probably damaging	Het
Ldhb	C	A	6: 142,438,324 (GRCm39)	K244N	possibly damaging	Het
Lypd6	C	T	2: 50,080,710 (GRCm39)	R133*	probably null	Het
Med13l	G	A	5: 118,859,457 (GRCm39)	G215S	probably damaging	Het
Ncoa1	T	C	12: 4,345,196 (GRCm39)	D606G	probably damaging	Het
Noc2l	C	T	4: 156,325,079 (GRCm39)	T151M	probably damaging	Het
Or10q3	T	C	19: 11,847,741 (GRCm39)	T280A	probably damaging	Het
Or2ag2	T	C	7: 106,485,217 (GRCm39)	K269R	probably benign	Het
Or2at4	T	C	7: 99,384,563 (GRCm39)	L71P	probably damaging	Het
Or2t26	T	A	11: 49,040,016 (GRCm39)	C311S	probably benign	Het
Or5aq1b	T	C	2: 86,901,741 (GRCm39)	T246A	probably benign	Het
Ppm1l	G	A	3: 69,460,403 (GRCm39)	G327R	probably damaging	Het
Rapgef5	C	T	12: 117,558,911 (GRCm39)	A282V	probably benign	Het
Rnf139	T	C	15: 58,771,367 (GRCm39)	V464A	probably damaging	Het
Rprd2	C	T	3: 95,672,047 (GRCm39)	E1119K	probably damaging	Het
Sipa1l2	G	A	8: 126,219,001 (GRCm39)	T112I	probably benign	Het
Skint6	T	C	4: 113,005,720 (GRCm39)	T363A	possibly damaging	Het
Slc22a16	G	T	10: 40,479,811 (GRCm39)	E607*	probably null	Het
Slc24a2	T	C	4: 86,909,648 (GRCm39)	Y690C	probably damaging	Het
Slc25a23	T	C	17: 57,354,306 (GRCm39)	S115G	probably benign	Het
Slc4a3	T	C	1: 75,527,535 (GRCm39)	L168P	probably damaging	Het
Spats2	T	A	15: 99,076,333 (GRCm39)	I137N	possibly damaging	Het
Stard4	A	T	18: 33,338,151 (GRCm39)	V133D	probably damaging	Het
Syn3	A	G	10: 86,284,728 (GRCm39)		probably null	Het
Tfpi	A	G	2: 84,263,447 (GRCm39)	I305T	probably damaging	Het
Tmtc1	T	A	6: 148,314,318 (GRCm39)		probably null	Het
Tpcn1	A	C	5: 120,682,485 (GRCm39)	W508G	probably damaging	Het
Ubr5	A	T	15: 38,030,974 (GRCm39)	N406K	possibly damaging	Het
Xrcc1	T	A	7: 24,265,052 (GRCm39)	L118*	probably null	Het
Zbtb5	T	C	4: 44,995,129 (GRCm39)	Y85C	probably damaging	Het
Zfand4	C	A	6: 116,306,373 (GRCm39)	Y735*	probably null	Het
Zfp180	G	T	7: 23,805,333 (GRCm39)	C584F	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- TGGATCTCTCCAGGGCTTGAAGAC -3'
(R):5'- TGTGTGCATTAAGCAGGTAGGACAG -3'

Sequencing Primer
(F):5'- tgggtgtggtgaggaagg -3'
(R):5'- ATCTGCACAGGACTTACGGT -3'

Posted On

2014-04-13