Mutagenetix > Incidental Mutation

Incidental Mutation 'R0846:Gal3st2c'

77351

Institutional Source

Beutler Lab

Gene Symbol

Gal3st2c

Ensembl Gene

ENSMUSG00000073608

Gene Name

galactose-3-O-sulfotransferase 2C

Synonyms

Gm6086

MMRRC Submission

039025-MU

Accession Numbers

Essential gene?

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

Stock #

R0846 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

93918227-93939261 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93934669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 19 (V19A)

Ref Sequence

ENSEMBL: ENSMUSP00000095234 (fasta)

Gene Model

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

AlphaFold

Q3ULK5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097632
AA Change: V19A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000095234
Gene: ENSMUSG00000073608
AA Change: V19A

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

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.2%
20x: 90.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	C	6: 86,936,071 (GRCm39)		probably benign	Het
Adgrv1	G	A	13: 81,627,861 (GRCm39)	R3667*	probably null	Het
Adh5	T	G	3: 138,156,835 (GRCm39)	C174G	probably damaging	Het
Cap1	A	C	4: 122,756,692 (GRCm39)		probably null	Het
Caps2	G	A	10: 112,051,490 (GRCm39)	R587H	probably damaging	Het
Ccn1	T	A	3: 145,353,525 (GRCm39)	M346L	possibly damaging	Het
Cdo1	A	G	18: 46,848,812 (GRCm39)	V142A	probably damaging	Het
Chuk	T	C	19: 44,079,467 (GRCm39)	T345A	probably damaging	Het
Cobll1	T	C	2: 64,932,409 (GRCm39)		probably null	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cop1	T	C	1: 159,147,386 (GRCm39)	Y571H	probably benign	Het
Cstpp1	T	A	2: 91,214,182 (GRCm39)	T58S	probably damaging	Het
Dcc	A	G	18: 71,959,283 (GRCm39)	V163A	probably benign	Het
Dnah11	G	T	12: 117,897,585 (GRCm39)	N3548K	probably damaging	Het
Ehhadh	G	T	16: 21,592,247 (GRCm39)	S152*	probably null	Het
Fitm2	T	C	2: 163,311,734 (GRCm39)	T160A	probably benign	Het
Fos	C	T	12: 85,522,457 (GRCm39)	T162I	probably damaging	Het
Fsd2	T	C	7: 81,190,145 (GRCm39)	I546V	probably benign	Het
Gorasp2	T	A	2: 70,521,298 (GRCm39)	S443T	probably benign	Het
Klf4	G	A	4: 55,530,191 (GRCm39)	H307Y	probably damaging	Het
Ldc1	A	C	4: 130,115,417 (GRCm39)	S44A	probably benign	Het
Mark3	A	G	12: 111,593,658 (GRCm39)	D230G	possibly damaging	Het
Mnat1	T	G	12: 73,170,706 (GRCm39)		probably null	Het
Or5m9b	T	C	2: 85,905,510 (GRCm39)	L142P	possibly damaging	Het
Otogl	T	G	10: 107,608,157 (GRCm39)	T2073P	probably benign	Het
Pdxdc1	A	C	16: 13,672,257 (GRCm39)		probably null	Het
Pkhd1l1	T	C	15: 44,358,993 (GRCm39)	S401P	probably damaging	Het
Polr1a	T	C	6: 71,901,627 (GRCm39)	Y262H	probably damaging	Het
Pramel19	A	T	4: 101,798,447 (GRCm39)	K139N	probably benign	Het
Scamp4	T	C	10: 80,450,537 (GRCm39)	F205L	probably benign	Het
Scn1a	C	T	2: 66,155,099 (GRCm39)	S620N	probably benign	Het
Scn7a	C	T	2: 66,527,944 (GRCm39)	D849N	possibly damaging	Het
Slc17a8	T	C	10: 89,442,596 (GRCm39)	D79G	possibly damaging	Het
Sync	A	G	4: 129,187,897 (GRCm39)	S310G	probably benign	Het
Tbc1d9b	A	C	11: 50,062,148 (GRCm39)	I1219L	probably benign	Het
Vmn1r47	T	A	6: 89,999,657 (GRCm39)	M263K	probably benign	Het
Zfp773	A	T	7: 7,135,691 (GRCm39)	C302S	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
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

Predicted Primers

PCR Primer
(F):5'- AGGTGCTCCAGGTTCTGAGACAAG -3'
(R):5'- TTGTAGGCCAGAAGGTAGCCTTCC -3'

Sequencing Primer
(F):5'- GGTTCTGAGACAAGCAGGC -3'
(R):5'- TCCTCTTCAATTCAAGAGACGGG -3'

Posted On

2013-10-16