Incidental Mutation 'R6132:Gal3st2b'
ID487161
Institutional Source Beutler Lab
Gene Symbol Gal3st2b
Ensembl Gene ENSMUSG00000093805
Gene Namegalactose-3-O-sulfotransferase 2B
SynonymsGm9994
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.233) question?
Stock #R6132 (G1)
Quality Score198.009
Status Validated
Chromosome1
Chromosomal Location93918311-93942650 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 93939966 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 112 (M112L)
Ref Sequence ENSEMBL: ENSMUSP00000136012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000177958] [ENSMUST00000178757]
Predicted Effect possibly damaging
Transcript: ENSMUST00000177958
AA Change: M114L

PolyPhen 2 Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000136311
Gene: ENSMUSG00000093805
AA Change: M114L

DomainStartEndE-ValueType
Pfam:Gal-3-0_sulfotr 1 382 6.5e-151 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000178757
AA Change: M112L

PolyPhen 2 Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000136012
Gene: ENSMUSG00000093805
AA Change: M112L

DomainStartEndE-ValueType
Pfam:Gal-3-0_sulfotr 13 380 1.1e-151 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 96% (49/51)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110017D15Rik C T 4: 41,517,160 M1I probably null Het
Abca15 T C 7: 120,361,420 Y702H probably benign Het
Adgrv1 G T 13: 81,506,076 N2225K probably benign Het
Afg3l2 G T 18: 67,421,259 L458M probably damaging Het
Alkbh5 G T 11: 60,537,995 probably benign Het
Atp5g1 A G 11: 96,075,024 M1T probably null Het
Crebrf C T 17: 26,763,403 P588S probably benign Het
Ctsr A C 13: 61,161,768 probably null Het
Cyp2c68 A G 19: 39,703,414 V355A possibly damaging Het
Ddx52 A G 11: 83,959,457 K555E possibly damaging Het
Depdc5 T A 5: 32,910,467 S410T probably damaging Het
Dhx30 A T 9: 110,085,779 I884N probably damaging Het
Dlg1 A T 16: 31,836,241 N518I possibly damaging Het
Dnah12 T A 14: 26,717,911 I506N probably damaging Het
Efcab6 A G 15: 84,032,972 L129P probably damaging Het
Erap1 A G 13: 74,660,282 N38D probably benign Het
Esf1 A G 2: 140,159,779 F383L probably benign Het
Exoc4 A G 6: 33,758,098 E550G probably damaging Het
Fbxo44 G A 4: 148,156,108 T221I probably benign Het
Golph3l C G 3: 95,591,834 P96A probably benign Het
Gprc6a T A 10: 51,615,260 I727F possibly damaging Het
Grin3b T C 10: 79,976,440 L479P probably damaging Het
Kdm5a C T 6: 120,374,931 H161Y probably damaging Het
Lman2 A G 13: 55,362,225 S73P probably benign Het
Map3k19 T C 1: 127,850,476 N4S possibly damaging Het
Mkln1 G A 6: 31,431,220 V161M probably damaging Het
Mmel1 C T 4: 154,895,018 H728Y probably damaging Het
Nova2 G A 7: 18,957,869 A244T unknown Het
Nrcam T A 12: 44,570,224 Y668N probably damaging Het
Oacyl G T 18: 65,726,355 G255W probably damaging Het
Olfr201 A G 16: 59,269,004 V221A probably damaging Het
Olfr883 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 38,026,540 probably null Het
Olfr994 A T 2: 85,430,146 S228T probably benign Het
Omd A C 13: 49,590,367 I298L probably damaging Het
Otor A T 2: 143,078,600 D34V probably damaging Het
Otx1 A T 11: 21,999,406 L24H probably damaging Het
Pwwp2a A G 11: 43,705,628 Y540C probably damaging Het
Rttn T A 18: 89,115,646 probably null Het
S1pr4 G A 10: 81,499,196 A148V probably benign Het
Scn10a C T 9: 119,613,695 V1495M possibly damaging Het
Sel1l3 T C 5: 53,200,189 K154E possibly damaging Het
Sema3a T G 5: 13,523,175 probably null Het
Slf2 T A 19: 44,960,861 N870K possibly damaging Het
Syne2 T C 12: 75,945,147 V1962A probably benign Het
Tarbp1 T A 8: 126,434,809 I1219F probably benign Het
Tet1 A C 10: 62,813,300 C173W probably damaging Het
Tnn A G 1: 160,146,071 F242S probably damaging Het
Tollip A G 7: 141,889,597 S174P probably benign Het
Tsr3 G T 17: 25,241,861 D234Y probably null Het
Vmn2r106 T C 17: 20,268,404 T578A probably benign Het
Zfp457 G T 13: 67,293,296 S309* probably null Het
Other mutations in Gal3st2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0593:Gal3st2b UTSW 1 93940827 missense probably benign 0.05
R1631:Gal3st2b UTSW 1 93940783 missense probably damaging 0.98
R1753:Gal3st2b UTSW 1 93940616 missense probably damaging 1.00
R2354:Gal3st2b UTSW 1 93939786 missense probably damaging 0.99
R3926:Gal3st2b UTSW 1 93940790 missense probably benign 0.06
R4347:Gal3st2b UTSW 1 93939808 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CATCATGTTCCTCAAGACTCACAAG -3'
(R):5'- GCCAAGAGCAATTACAGGCC -3'

Sequencing Primer
(F):5'- TGTTCCTCAAGACTCACAAGACAGC -3'
(R):5'- CATTGGCAGCCTAAACAGAATGGTC -3'
Posted On2017-10-10