Incidental Mutation 'R0970:A3galt2'
ID 84011
Institutional Source Beutler Lab
Gene Symbol A3galt2
Ensembl Gene ENSMUSG00000028794
Gene Name alpha 1,3-galactosyltransferase 2
Synonyms iGb3, LOC215493
MMRRC Submission 039099-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0970 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 128653051-128663091 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 128661364 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 307 (S307P)
Ref Sequence ENSEMBL: ENSMUSP00000101687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030585] [ENSMUST00000106077]
AlphaFold Q3V1N9
Predicted Effect probably damaging
Transcript: ENSMUST00000030585
AA Change: S338P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030585
Gene: ENSMUSG00000028794
AA Change: S338P

DomainStartEndE-ValueType
transmembrane domain 43 65 N/A INTRINSIC
Pfam:Glyco_transf_6 80 370 4.8e-111 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106077
AA Change: S307P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101687
Gene: ENSMUSG00000028794
AA Change: S307P

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
Pfam:Glyco_transf_6 49 339 1.4e-114 PFAM
Meta Mutation Damage Score 0.1517 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (40/41)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and behaviorally normal with no detectable alterations in the development and function of invariant natural killer T cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amdhd2 C T 17: 24,375,544 (GRCm39) probably null Het
Ano1 A T 7: 144,149,308 (GRCm39) M851K probably benign Het
Arid3b A T 9: 57,740,834 (GRCm39) probably benign Het
Arpp21 A G 9: 111,965,516 (GRCm39) probably benign Het
Atxn7l3 C G 11: 102,183,261 (GRCm39) probably benign Het
C87436 G A 6: 86,424,310 (GRCm39) V281M probably damaging Het
Cep70 A G 9: 99,157,652 (GRCm39) K184E possibly damaging Het
Clcn7 T C 17: 25,370,208 (GRCm39) probably null Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Col4a2 A G 8: 11,465,438 (GRCm39) T383A probably benign Het
Commd5 A T 15: 76,784,885 (GRCm39) probably null Het
Cyp4b1 G A 4: 115,492,833 (GRCm39) A292V probably benign Het
Dthd1 T C 5: 63,045,324 (GRCm39) L696P probably damaging Het
Dync1h1 G A 12: 110,602,943 (GRCm39) E2195K probably benign Het
Eepd1 A G 9: 25,514,722 (GRCm39) R510G probably damaging Het
Eno3 T C 11: 70,551,628 (GRCm39) I196T probably damaging Het
Eva1a A G 6: 82,069,084 (GRCm39) E137G probably damaging Het
Gapvd1 T A 2: 34,620,625 (GRCm39) probably null Het
Ggnbp2 T C 11: 84,753,138 (GRCm39) M34V possibly damaging Het
Gpihbp1 G A 15: 75,469,795 (GRCm39) S170N probably benign Het
Kdm3b T C 18: 34,942,092 (GRCm39) S528P probably damaging Het
Lrrk2 A T 15: 91,613,372 (GRCm39) Q832L probably benign Het
Nav2 C A 7: 49,233,901 (GRCm39) P1861Q probably damaging Het
Or52n5 A C 7: 104,588,284 (GRCm39) M184L probably benign Het
Piezo1 A T 8: 123,213,549 (GRCm39) I1782N possibly damaging Het
Pikfyve T A 1: 65,304,983 (GRCm39) S1757T probably damaging Het
Plxnb1 G T 9: 108,932,331 (GRCm39) W523C probably damaging Het
Pmm2 G T 16: 8,460,640 (GRCm39) L31F probably damaging Het
Ppm1f T C 16: 16,721,457 (GRCm39) probably null Het
Prss16 T C 13: 22,189,287 (GRCm39) Y34C probably damaging Het
Slc10a2 C G 8: 5,155,115 (GRCm39) E23D probably benign Het
Smc5 T A 19: 23,216,362 (GRCm39) I489F probably damaging Het
Snx2 T C 18: 53,343,762 (GRCm39) probably benign Het
Stradb C T 1: 59,016,219 (GRCm39) L3F possibly damaging Het
Tnxb C G 17: 34,917,917 (GRCm39) P2277A possibly damaging Het
Tpm2 T A 4: 43,515,968 (GRCm39) I270F probably benign Het
Ugt2b38 T G 5: 87,560,232 (GRCm39) N361H probably damaging Het
Urb1 A T 16: 90,566,335 (GRCm39) L1484Q possibly damaging Het
Xylt1 G A 7: 117,233,963 (GRCm39) V497I probably damaging Het
Other mutations in A3galt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01555:A3galt2 APN 4 128,655,851 (GRCm39) missense probably damaging 1.00
IGL02691:A3galt2 APN 4 128,655,457 (GRCm39) missense probably benign 0.01
IGL02826:A3galt2 APN 4 128,655,302 (GRCm39) splice site probably benign
IGL02839:A3galt2 APN 4 128,653,816 (GRCm39) critical splice donor site probably null
R0234:A3galt2 UTSW 4 128,660,941 (GRCm39) missense possibly damaging 0.59
R0234:A3galt2 UTSW 4 128,660,941 (GRCm39) missense possibly damaging 0.59
R1807:A3galt2 UTSW 4 128,661,394 (GRCm39) missense probably benign 0.00
R3498:A3galt2 UTSW 4 128,649,350 (GRCm39) missense probably benign
R3799:A3galt2 UTSW 4 128,660,863 (GRCm39) missense probably damaging 1.00
R3891:A3galt2 UTSW 4 128,655,847 (GRCm39) missense probably damaging 1.00
R4810:A3galt2 UTSW 4 128,649,356 (GRCm39) critical splice donor site probably null
R5133:A3galt2 UTSW 4 128,655,934 (GRCm39) missense probably damaging 1.00
R6540:A3galt2 UTSW 4 128,660,779 (GRCm39) missense possibly damaging 0.78
R8323:A3galt2 UTSW 4 128,649,351 (GRCm39) missense probably benign
R8989:A3galt2 UTSW 4 128,655,231 (GRCm39) missense probably damaging 1.00
R9384:A3galt2 UTSW 4 128,655,851 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGCGAAGGCGATTTCTACTACCAC -3'
(R):5'- ACAAGCACCTGGGATACAAAAGCTG -3'

Sequencing Primer
(F):5'- CGATTTCTACTACCACGCTGC -3'
(R):5'- TGGAGCAAAAAGGCTCTCCTG -3'
Posted On 2013-11-08