Incidental Mutation 'R4236:Gal3st2c'
ID 321104
Institutional Source Beutler Lab
Gene Symbol Gal3st2c
Ensembl Gene ENSMUSG00000073608
Gene Name galactose-3-O-sulfotransferase 2C
Synonyms Gm6086
MMRRC Submission 041053-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R4236 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 93918227-93939261 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 93936463 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 136 (F136S)
Ref Sequence ENSEMBL: ENSMUSP00000095234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097632]
AlphaFold Q3ULK5
Predicted Effect probably damaging
Transcript: ENSMUST00000097632
AA Change: F136S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095234
Gene: ENSMUSG00000073608
AA Change: F136S

DomainStartEndE-ValueType
Pfam:Gal-3-0_sulfotr 1 382 8.4e-150 PFAM
Meta Mutation Damage Score 0.6656 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 96% (49/51)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik C T X: 69,438,135 (GRCm39) A53T probably benign Het
Abca13 A T 11: 9,206,205 (GRCm39) K168N probably damaging Het
Ajuba T C 14: 54,806,983 (GRCm39) R490G probably damaging Het
Akap6 T A 12: 53,186,454 (GRCm39) N1289K probably damaging Het
Ankfy1 G A 11: 72,605,310 (GRCm39) probably null Het
Arhgap21 A G 2: 20,891,948 (GRCm39) V161A probably damaging Het
Arhgef18 T C 8: 3,500,317 (GRCm39) I541T possibly damaging Het
Atg14 T C 14: 47,788,802 (GRCm39) K184E probably benign Het
Casp8 T C 1: 58,883,929 (GRCm39) V432A probably damaging Het
Cela1 T C 15: 100,580,794 (GRCm39) Y91C probably damaging Het
Chrnb3 C A 8: 27,884,021 (GRCm39) L253M probably damaging Het
Col24a1 G T 3: 145,230,037 (GRCm39) G1493* probably null Het
Dnah7a C T 1: 53,486,524 (GRCm39) E3346K probably benign Het
Dock5 A T 14: 67,993,941 (GRCm39) S1845T probably benign Het
Dtx3 A G 10: 127,029,058 (GRCm39) I60T possibly damaging Het
Eif1ad8 A T 12: 87,563,935 (GRCm39) D90V probably damaging Het
F2rl1 A G 13: 95,649,796 (GRCm39) L362P probably damaging Het
Gm26678 T C 3: 54,540,504 (GRCm39) noncoding transcript Het
Impg1 A G 9: 80,252,611 (GRCm39) L523P probably damaging Het
Ip6k2 G A 9: 108,682,847 (GRCm39) R319Q probably benign Het
Klhl23 T C 2: 69,654,516 (GRCm39) F129L probably damaging Het
Krt71 T C 15: 101,643,129 (GRCm39) T460A probably benign Het
Madd C T 2: 90,997,373 (GRCm39) R746Q probably benign Het
Med12l T G 3: 59,164,644 (GRCm39) probably null Het
Mrps30 T C 13: 118,523,376 (GRCm39) D132G probably damaging Het
Myh6 T G 14: 55,197,819 (GRCm39) M440L probably benign Het
Myh7 T A 14: 55,228,575 (GRCm39) S205C probably benign Het
Nxpe4 A T 9: 48,310,137 (GRCm39) T467S probably damaging Het
Or13a20 T C 7: 140,232,653 (GRCm39) Y254H probably damaging Het
Or1e17 A G 11: 73,831,182 (GRCm39) T37A possibly damaging Het
Or7g30 T A 9: 19,352,886 (GRCm39) L226I probably damaging Het
Pcdh7 G A 5: 57,876,631 (GRCm39) G62D possibly damaging Het
Pde3b A G 7: 114,120,923 (GRCm39) T683A possibly damaging Het
Plcb2 A T 2: 118,540,047 (GRCm39) L1082Q probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Skint11 C A 4: 114,101,856 (GRCm39) Q99K probably benign Het
Slc6a6 T C 6: 91,718,257 (GRCm39) V357A probably damaging Het
Slitrk6 T C 14: 110,987,580 (GRCm39) E709G probably benign Het
Spc24 T C 9: 21,667,498 (GRCm39) probably null Het
Tas2r140 A T 6: 133,031,915 (GRCm39) V281D probably damaging Het
Tfcp2l1 G A 1: 118,589,795 (GRCm39) R285H probably benign Het
Tmem132d A G 5: 128,509,389 (GRCm39) S14P possibly damaging Het
Tulp2 A G 7: 45,171,298 (GRCm39) K360E probably damaging Het
Vmn1r60 A G 7: 5,547,803 (GRCm39) V99A probably benign Het
Zfp599 T A 9: 22,161,041 (GRCm39) K375* probably null Het
Other mutations in Gal3st2c
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- ACTTGCTCCCTTGGTGTAGG -3'
(R):5'- GGCATTTGCGAACATAGTCCTTG -3'

Sequencing Primer
(F):5'- TAGGAATGAGGCTCCAGCTCTG -3'
(R):5'- CGAACATAGTCCTTGTCTGCTGG -3'
Posted On 2015-06-12