Incidental Mutation 'R6132:Gal3st2b'
ID 487161
Institutional Source Beutler Lab
Gene Symbol Gal3st2b
Ensembl Gene ENSMUSG00000093805
Gene Name galactose-3-O-sulfotransferase 2B
Synonyms Gm9994
MMRRC Submission 044279-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R6132 (G1)
Quality Score 198.009
Status Validated
Chromosome 1
Chromosomal Location 93846159-93870367 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 93867688 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q6XQH0
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
Abca15 T C 7: 119,960,643 (GRCm39) Y702H probably benign Het
Adgrv1 G T 13: 81,654,195 (GRCm39) N2225K probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Alkbh5 G T 11: 60,428,821 (GRCm39) probably benign Het
Atp5mc1 A G 11: 95,965,850 (GRCm39) M1T probably null Het
Crebrf C T 17: 26,982,377 (GRCm39) P588S probably benign Het
Ctsr A C 13: 61,309,582 (GRCm39) probably null Het
Cyp2c68 A G 19: 39,691,858 (GRCm39) V355A possibly damaging Het
Ddx52 A G 11: 83,850,283 (GRCm39) K555E possibly damaging Het
Depdc5 T A 5: 33,067,811 (GRCm39) S410T probably damaging Het
Dhx30 A T 9: 109,914,847 (GRCm39) I884N probably damaging Het
Dlg1 A T 16: 31,655,059 (GRCm39) N518I possibly damaging Het
Dnah12 T A 14: 26,439,066 (GRCm39) I506N probably damaging Het
Efcab6 A G 15: 83,917,173 (GRCm39) L129P probably damaging Het
Erap1 A G 13: 74,808,401 (GRCm39) N38D probably benign Het
Esf1 A G 2: 140,001,699 (GRCm39) F383L probably benign Het
Exoc4 A G 6: 33,735,033 (GRCm39) E550G probably damaging Het
Fbxo44 G A 4: 148,240,565 (GRCm39) T221I probably benign Het
Golph3l C G 3: 95,499,145 (GRCm39) P96A probably benign Het
Gprc6a T A 10: 51,491,356 (GRCm39) I727F possibly damaging Het
Grin3b T C 10: 79,812,274 (GRCm39) L479P probably damaging Het
Kdm5a C T 6: 120,351,892 (GRCm39) H161Y probably damaging Het
Lman2 A G 13: 55,510,038 (GRCm39) S73P probably benign Het
Map3k19 T C 1: 127,778,213 (GRCm39) N4S possibly damaging Het
Mkln1 G A 6: 31,408,155 (GRCm39) V161M probably damaging Het
Mmel1 C T 4: 154,979,475 (GRCm39) H728Y probably damaging Het
Nova2 G A 7: 18,691,794 (GRCm39) A244T unknown Het
Nrcam T A 12: 44,617,007 (GRCm39) Y668N probably damaging Het
Oacyl G T 18: 65,859,426 (GRCm39) G255W probably damaging Het
Omd A C 13: 49,743,843 (GRCm39) I298L probably damaging Het
Or5ac19 A G 16: 59,089,367 (GRCm39) V221A probably damaging Het
Or5ak24 A T 2: 85,260,490 (GRCm39) S228T probably benign Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Otor A T 2: 142,920,520 (GRCm39) D34V probably damaging Het
Otx1 A T 11: 21,949,406 (GRCm39) L24H probably damaging Het
Pwwp2a A G 11: 43,596,455 (GRCm39) Y540C probably damaging Het
Rttn T A 18: 89,133,770 (GRCm39) probably null Het
S1pr4 G A 10: 81,335,030 (GRCm39) A148V probably benign Het
Scn10a C T 9: 119,442,761 (GRCm39) V1495M possibly damaging Het
Sel1l3 T C 5: 53,357,531 (GRCm39) K154E possibly damaging Het
Sema3a T G 5: 13,573,142 (GRCm39) probably null Het
Slf2 T A 19: 44,949,300 (GRCm39) N870K possibly damaging Het
Spmip6 C T 4: 41,517,160 (GRCm39) M1I probably null Het
Syne2 T C 12: 75,991,921 (GRCm39) V1962A probably benign Het
Tarbp1 T A 8: 127,161,548 (GRCm39) I1219F probably benign Het
Tet1 A C 10: 62,649,079 (GRCm39) C173W probably damaging Het
Tnn A G 1: 159,973,641 (GRCm39) F242S probably damaging Het
Tollip A G 7: 141,443,334 (GRCm39) S174P probably benign Het
Tsr3 G T 17: 25,460,835 (GRCm39) D234Y probably null Het
Vmn2r106 T C 17: 20,488,666 (GRCm39) T578A probably benign Het
Zfp457 G T 13: 67,441,360 (GRCm39) S309* probably null Het
Other mutations in Gal3st2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0593:Gal3st2b UTSW 1 93,868,549 (GRCm39) missense probably benign 0.05
R1631:Gal3st2b UTSW 1 93,868,505 (GRCm39) missense probably damaging 0.98
R1753:Gal3st2b UTSW 1 93,868,338 (GRCm39) missense probably damaging 1.00
R2354:Gal3st2b UTSW 1 93,867,508 (GRCm39) missense probably damaging 0.99
R3926:Gal3st2b UTSW 1 93,868,512 (GRCm39) missense probably benign 0.06
R4347:Gal3st2b UTSW 1 93,867,530 (GRCm39) missense probably damaging 1.00
R7069:Gal3st2b UTSW 1 93,868,341 (GRCm39) missense possibly damaging 0.95
R7116:Gal3st2b UTSW 1 93,868,498 (GRCm39) missense possibly damaging 0.58
R7662:Gal3st2b UTSW 1 93,868,614 (GRCm39) missense probably damaging 1.00
R7775:Gal3st2b UTSW 1 93,868,506 (GRCm39) missense probably damaging 1.00
R8669:Gal3st2b UTSW 1 93,868,764 (GRCm39) missense possibly damaging 0.90
R8924:Gal3st2b UTSW 1 93,868,653 (GRCm39) missense probably benign 0.18
R8937:Gal3st2b UTSW 1 93,868,570 (GRCm39) missense probably benign 0.15
R9635:Gal3st2b UTSW 1 93,868,777 (GRCm39) missense probably benign 0.12
R9645:Gal3st2b UTSW 1 93,866,328 (GRCm39) missense probably damaging 0.97
R9713:Gal3st2b UTSW 1 93,866,409 (GRCm39) missense probably benign
Z1176:Gal3st2b UTSW 1 93,866,407 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- CATCATGTTCCTCAAGACTCACAAG -3'
(R):5'- GCCAAGAGCAATTACAGGCC -3'

Sequencing Primer
(F):5'- TGTTCCTCAAGACTCACAAGACAGC -3'
(R):5'- CATTGGCAGCCTAAACAGAATGGTC -3'
Posted On 2017-10-10