Incidental Mutation 'R3737:Gal3st2c'
ID270148
Institutional Source Beutler Lab
Gene Symbol Gal3st2c
Ensembl Gene ENSMUSG00000073608
Gene Namegalactose-3-O-sulfotransferase 2C
SynonymsGm6086
MMRRC Submission 040724-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.128) question?
Stock #R3737 (G1)
Quality Score225
Status Not validated
Chromosome1
Chromosomal Location93990509-94017147 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 94009328 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 332 (I332V)
Ref Sequence ENSEMBL: ENSMUSP00000095234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097632]
Predicted Effect possibly damaging
Transcript: ENSMUST00000097632
AA Change: I332V

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000095234
Gene: ENSMUSG00000073608
AA Change: I332V

DomainStartEndE-ValueType
Pfam:Gal-3-0_sulfotr 1 382 8.4e-150 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Api5 C T 2: 94,425,613 R243Q possibly damaging Het
Arap1 A T 7: 101,400,277 Y982F possibly damaging Het
Bicral A T 17: 46,825,910 Y125N probably damaging Het
Brd2 A G 17: 34,117,080 L53S probably benign Het
Ccdc88c G A 12: 100,930,524 A1389V possibly damaging Het
Cdk17 G A 10: 93,221,644 probably null Het
Clca3a1 A G 3: 144,730,721 V867A probably benign Het
Dchs1 T A 7: 105,762,316 D1531V possibly damaging Het
Dnah9 G A 11: 66,156,908 Q29* probably null Het
Dopey1 T C 9: 86,494,433 V240A probably damaging Het
Fgfbp1 T C 5: 43,979,596 Y118C probably damaging Het
Gprc6a A C 10: 51,626,911 N285K probably benign Het
Hcn4 A G 9: 58,843,889 D266G probably benign Het
Hmcn2 A T 2: 31,336,612 K200* probably null Het
Hmgcr C G 13: 96,651,063 L852F probably damaging Het
Ifi203 T A 1: 173,929,474 probably benign Het
Il1f5 T C 2: 24,281,203 F101S probably damaging Het
Isl2 A G 9: 55,542,470 S119G probably benign Het
Kctd9 G A 14: 67,734,288 D157N possibly damaging Het
Lcorl A T 5: 45,734,041 N323K possibly damaging Het
Ltbp2 A T 12: 84,804,474 C836S probably damaging Het
Mfsd2b A G 12: 4,870,578 S80P probably damaging Het
Mon2 A G 10: 123,013,375 L1340P probably damaging Het
Myh9 G A 15: 77,766,812 R1612C probably damaging Het
Nlrp4f T C 13: 65,194,007 N608S probably benign Het
Nolc1 CAG CAGTAG 19: 46,081,353 probably benign Het
Nolc1 GCA GCAACA 19: 46,081,370 probably benign Het
Nolc1 C CAGT 19: 46,081,377 probably benign Het
Olfr878 G A 9: 37,918,641 probably benign Het
Osbpl2 G A 2: 180,161,560 R475H probably damaging Het
Pcm1 T A 8: 41,261,043 Y215* probably null Het
Pde6c T A 19: 38,140,224 V212D probably damaging Het
Ppl T C 16: 5,106,857 T115A probably benign Het
Prtg G T 9: 72,842,709 E132* probably null Het
R3hcc1 C T 14: 69,697,593 R262Q probably benign Het
Serpinb6d T A 13: 33,667,680 V140E probably damaging Het
Ska3 A T 14: 57,811,596 M306K probably benign Het
Spesp1 T A 9: 62,273,036 I197L probably benign Het
Srsf4 C T 4: 131,900,102 probably benign Het
Tprgl T C 4: 154,160,128 I137V probably benign Het
Ttk C A 9: 83,854,837 P450T possibly damaging Het
Ube2j1 A T 4: 33,036,723 M16L probably benign Het
Ubr3 G A 2: 69,971,234 probably null Het
Usp42 C T 5: 143,715,439 S943N probably benign Het
Usp49 G A 17: 47,672,318 V83M probably damaging Het
Usp6nl C A 2: 6,440,917 N568K probably damaging Het
Utp20 C T 10: 88,762,806 V103I probably benign Het
Vmn1r55 T G 7: 5,147,196 D76A probably damaging Het
Xrcc6 T C 15: 82,029,631 Y53H probably damaging Het
Zbtb7c T G 18: 76,136,940 L33R probably damaging Het
Other mutations in Gal3st2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00468:Gal3st2c APN 1 94009049 missense probably benign 0.38
IGL01469:Gal3st2c APN 1 94009317 missense probably benign 0.18
PIT4431001:Gal3st2c UTSW 1 94008112 missense probably damaging 1.00
R0110:Gal3st2c UTSW 1 94009497 missense probably benign 0.03
R0602:Gal3st2c UTSW 1 94009179 missense probably damaging 1.00
R0846:Gal3st2c UTSW 1 94006947 missense possibly damaging 0.51
R1577:Gal3st2c UTSW 1 94006928 missense probably damaging 0.98
R1900:Gal3st2c UTSW 1 94009044 missense probably damaging 1.00
R1902:Gal3st2c UTSW 1 94008889 missense probably damaging 1.00
R2143:Gal3st2c UTSW 1 94009451 nonsense probably null
R2846:Gal3st2c UTSW 1 93996400 missense possibly damaging 0.52
R4236:Gal3st2c UTSW 1 94008741 missense probably damaging 1.00
R4623:Gal3st2c UTSW 1 94009456 missense possibly damaging 0.59
R5177:Gal3st2c UTSW 1 94009208 nonsense probably null
R5590:Gal3st2c UTSW 1 94008301 critical splice donor site probably null
R7529:Gal3st2c UTSW 1 94009317 missense probably benign 0.18
R7559:Gal3st2c UTSW 1 94009353 missense probably damaging 1.00
Z1088:Gal3st2c UTSW 1 94008145 missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TCCTTCAAGCTGAACGTGC -3'
(R):5'- AGTCTTGTCGGGAAACTGCAG -3'

Sequencing Primer
(F):5'- AGAGCACTGTCTCCCACCTG -3'
(R):5'- CTGCAGAGAGTACATATGGGCC -3'
Posted On2015-03-18