Incidental Mutation 'IGL02799:Ggta1'
ID 392252
Institutional Source Beutler Lab
Gene Symbol Ggta1
Ensembl Gene ENSMUSG00000035778
Gene Name glycoprotein galactosyltransferase alpha 1, 3
Synonyms alpha Gal, Gal, Ggta, GALT, alpha3GalT, glycoprotein alpha galactosyl transferase 1, Ggta-1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02799 (G1)
Quality Score 150
Status Validated
Chromosome 2
Chromosomal Location 35290191-35353243 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 35312211 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 56 (F56I)
Ref Sequence ENSEMBL: ENSMUSP00000115112 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044255] [ENSMUST00000079424] [ENSMUST00000102794] [ENSMUST00000113001] [ENSMUST00000113002] [ENSMUST00000131745] [ENSMUST00000164889]
AlphaFold P23336
Predicted Effect possibly damaging
Transcript: ENSMUST00000044255
AA Change: F56I

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000049408
Gene: ENSMUSG00000035778
AA Change: F56I

DomainStartEndE-ValueType
transmembrane domain 42 60 N/A INTRINSIC
Pfam:Glyco_transf_6 81 404 1.2e-165 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000079424
AA Change: F56I

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000078393
Gene: ENSMUSG00000035778
AA Change: F56I

DomainStartEndE-ValueType
Pfam:Glyco_transf_6 34 370 5.5e-177 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000102794
AA Change: F56I

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099858
Gene: ENSMUSG00000035778
AA Change: F56I

DomainStartEndE-ValueType
transmembrane domain 42 60 N/A INTRINSIC
Pfam:Glyco_transf_6 74 404 4.3e-182 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113001
AA Change: F56I

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108625
Gene: ENSMUSG00000035778
AA Change: F56I

DomainStartEndE-ValueType
Pfam:Glyco_transf_6 45 382 3.6e-177 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113002
AA Change: F56I

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108626
Gene: ENSMUSG00000035778
AA Change: F56I

DomainStartEndE-ValueType
transmembrane domain 42 60 N/A INTRINSIC
Pfam:Glyco_transf_6 62 392 3.6e-182 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130913
Predicted Effect probably damaging
Transcript: ENSMUST00000131745
AA Change: F56I

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115112
Gene: ENSMUSG00000035778
AA Change: F56I

DomainStartEndE-ValueType
Pfam:Glyco_transf_6 34 140 1.5e-29 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000164889
AA Change: F56I

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000132408
Gene: ENSMUSG00000035778
AA Change: F56I

DomainStartEndE-ValueType
transmembrane domain 42 60 N/A INTRINSIC
Pfam:Glyco_transf_6 62 392 3.6e-182 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 99% (67/68)
MGI Phenotype FUNCTION: This gene encodes a member of the galactosyltransferase family of intracellular, membrane-bound enzymes that are involved in the biosynthesis of glycoproteins and glycolipids. The encoded protein catalyzes the transfer of galactose from UDP-galactose to N-acetyllactosamine in an alpha(1,3) linkage to form galactose alpha(1,3)-galactose. Mice lacking the encoded protein develop cortical cataracts. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2015]
PHENOTYPE: Mice homozygous for disruption of this gene display defects in humoral immune responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add2 A G 6: 86,083,234 (GRCm39) N444S possibly damaging Het
Atp2b2 A T 6: 113,739,813 (GRCm39) Y823* probably null Het
Atp2c1 A C 9: 105,290,242 (GRCm39) probably benign Het
Capns1 A T 7: 29,891,644 (GRCm39) D133E probably benign Het
Cast A G 13: 74,884,871 (GRCm39) V361A probably damaging Het
Cd69 G A 6: 129,245,223 (GRCm39) probably benign Het
Celsr2 T A 3: 108,321,378 (GRCm39) D478V probably damaging Het
Cenpf T C 1: 189,391,849 (GRCm39) E661G probably damaging Het
Chrna1 A G 2: 73,404,985 (GRCm39) probably benign Het
Clec5a C A 6: 40,554,983 (GRCm39) V138F probably damaging Het
Ctsj T A 13: 61,151,634 (GRCm39) I95F probably benign Het
Dcaf1 T A 9: 106,735,139 (GRCm39) S696T probably benign Het
Dcp1a T C 14: 30,241,636 (GRCm39) probably null Het
Dnajc14 C T 10: 128,642,725 (GRCm39) P216S possibly damaging Het
Dst T C 1: 34,218,930 (GRCm39) I1790T possibly damaging Het
Ehmt1 A T 2: 24,705,818 (GRCm39) H789Q probably damaging Het
Exoc7 A T 11: 116,192,007 (GRCm39) L188Q probably damaging Het
Faap100 A G 11: 120,261,561 (GRCm39) L823P probably damaging Het
Fdxacb1 T A 9: 50,683,896 (GRCm39) S620T probably benign Het
Fhl2 C T 1: 43,167,562 (GRCm39) R177Q probably benign Het
Gars1 C A 6: 55,040,084 (GRCm39) T337K probably damaging Het
Gm10715 A C 9: 3,038,062 (GRCm39) probably benign Het
Gpr108 T A 17: 57,544,482 (GRCm39) I343F probably damaging Het
Gpr12 T A 5: 146,520,629 (GRCm39) I98F possibly damaging Het
Hk2 A G 6: 82,737,219 (GRCm39) L3P probably damaging Het
Imp4 C A 1: 34,479,258 (GRCm39) probably benign Het
Insrr G A 3: 87,720,888 (GRCm39) V1049M probably damaging Het
Klhl24 T C 16: 19,933,331 (GRCm39) V314A probably damaging Het
Krt32 A T 11: 99,978,733 (GRCm39) V107D possibly damaging Het
Krtap5-1 G A 7: 141,850,242 (GRCm39) Q189* probably null Het
Lrrc9 A G 12: 72,553,178 (GRCm39) E1360G probably damaging Het
Mdc1 G T 17: 36,157,083 (GRCm39) L163F possibly damaging Het
Mroh1 T G 15: 76,276,661 (GRCm39) probably null Het
Myh8 A G 11: 67,192,418 (GRCm39) probably benign Het
Ndufab1 A T 7: 121,692,949 (GRCm39) probably benign Het
Nek3 A G 8: 22,648,735 (GRCm39) probably benign Het
Ngly1 A T 14: 16,260,636 (GRCm38) I107L probably benign Het
Nkain4 A T 2: 180,577,728 (GRCm39) probably null Het
Nsd2 T A 5: 34,022,132 (GRCm39) probably benign Het
Or4n4 A G 14: 50,518,801 (GRCm39) I303T probably benign Het
Or5e1 A T 7: 108,354,830 (GRCm39) M256L probably benign Het
Or5t9 A T 2: 86,659,300 (GRCm39) H68L probably damaging Het
Or7e166 T A 9: 19,624,314 (GRCm39) Y64N probably damaging Het
Or8b12 T A 9: 37,657,805 (GRCm39) I125N probably damaging Het
Pcnt G A 10: 76,248,417 (GRCm39) Q901* probably null Het
Pctp C A 11: 89,881,913 (GRCm39) W81C probably damaging Het
Pik3r5 A T 11: 68,386,773 (GRCm39) I801F probably damaging Het
Ptprj A T 2: 90,299,942 (GRCm39) N193K probably benign Het
Rab11fip1 A T 8: 27,642,788 (GRCm39) D670E probably benign Het
Racgap1 T C 15: 99,530,628 (GRCm39) K201E probably benign Het
Ranbp2 T C 10: 58,316,086 (GRCm39) F2269L probably damaging Het
Rint1 C A 5: 24,024,478 (GRCm39) A760D possibly damaging Het
Ryr2 G A 13: 11,680,848 (GRCm39) P3166S probably damaging Het
Snap29 A G 16: 17,240,367 (GRCm39) N158D probably benign Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
St6galnac1 G T 11: 116,657,473 (GRCm39) probably benign Het
Strc G A 2: 121,209,717 (GRCm39) T202I probably damaging Het
Stxbp4 A G 11: 90,385,426 (GRCm39) probably null Het
Syne1 A T 10: 5,309,059 (GRCm39) M650K probably damaging Het
Tbc1d2b C T 9: 90,105,487 (GRCm39) probably benign Het
Tcfl5 A T 2: 180,280,419 (GRCm39) I328N possibly damaging Het
Tenm2 A G 11: 36,164,235 (GRCm39) Y337H probably damaging Het
Tgfbr2 T C 9: 115,939,204 (GRCm39) K233E possibly damaging Het
Tnk2 T C 16: 32,484,699 (GRCm39) probably benign Het
Trbv13-2 A G 6: 41,098,471 (GRCm39) probably benign Het
Tut4 T C 4: 108,370,725 (GRCm39) Y875H probably benign Het
Usp6nl T A 2: 6,432,360 (GRCm39) probably benign Het
Vmn2r62 A G 7: 42,437,396 (GRCm39) S363P possibly damaging Het
Vnn3 T C 10: 23,727,869 (GRCm39) I93T possibly damaging Het
Ylpm1 A G 12: 85,091,258 (GRCm39) D1108G probably damaging Het
Zbtb17 G A 4: 141,190,691 (GRCm39) G170S probably benign Het
Zfyve26 T C 12: 79,320,084 (GRCm39) E1087G probably benign Het
Other mutations in Ggta1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01366:Ggta1 APN 2 35,292,462 (GRCm39) nonsense probably null
IGL01903:Ggta1 APN 2 35,292,569 (GRCm39) missense possibly damaging 0.74
IGL02796:Ggta1 APN 2 35,303,329 (GRCm39) splice site probably benign
R0383:Ggta1 UTSW 2 35,292,416 (GRCm39) missense probably damaging 1.00
R1430:Ggta1 UTSW 2 35,298,029 (GRCm39) missense possibly damaging 0.81
R1667:Ggta1 UTSW 2 35,304,295 (GRCm39) missense possibly damaging 0.83
R1672:Ggta1 UTSW 2 35,292,145 (GRCm39) nonsense probably null
R2246:Ggta1 UTSW 2 35,292,121 (GRCm39) makesense probably null
R3149:Ggta1 UTSW 2 35,292,635 (GRCm39) missense probably damaging 1.00
R3683:Ggta1 UTSW 2 35,298,000 (GRCm39) missense probably benign 0.39
R3684:Ggta1 UTSW 2 35,298,000 (GRCm39) missense probably benign 0.39
R3685:Ggta1 UTSW 2 35,298,000 (GRCm39) missense probably benign 0.39
R4812:Ggta1 UTSW 2 35,292,735 (GRCm39) missense probably benign 0.01
R4856:Ggta1 UTSW 2 35,292,803 (GRCm39) missense possibly damaging 0.59
R5079:Ggta1 UTSW 2 35,312,249 (GRCm39) missense possibly damaging 0.94
R5756:Ggta1 UTSW 2 35,292,395 (GRCm39) missense probably damaging 1.00
R6279:Ggta1 UTSW 2 35,298,006 (GRCm39) missense probably damaging 1.00
R6651:Ggta1 UTSW 2 35,292,306 (GRCm39) missense probably benign 0.00
R6967:Ggta1 UTSW 2 35,292,734 (GRCm39) missense possibly damaging 0.91
R7152:Ggta1 UTSW 2 35,292,711 (GRCm39) missense probably benign 0.00
R7529:Ggta1 UTSW 2 35,304,256 (GRCm39) missense probably damaging 1.00
R7534:Ggta1 UTSW 2 35,292,440 (GRCm39) missense probably damaging 1.00
R7557:Ggta1 UTSW 2 35,292,548 (GRCm39) missense probably damaging 0.98
R7610:Ggta1 UTSW 2 35,304,230 (GRCm39) critical splice donor site probably null
R8153:Ggta1 UTSW 2 35,313,333 (GRCm39) missense possibly damaging 0.53
R8195:Ggta1 UTSW 2 35,312,279 (GRCm39) missense probably damaging 1.00
R8447:Ggta1 UTSW 2 35,292,573 (GRCm39) missense probably damaging 1.00
R8739:Ggta1 UTSW 2 35,292,572 (GRCm39) missense probably damaging 1.00
R9122:Ggta1 UTSW 2 35,303,336 (GRCm39) critical splice donor site probably null
R9470:Ggta1 UTSW 2 35,292,767 (GRCm39) missense probably damaging 1.00
R9567:Ggta1 UTSW 2 35,313,333 (GRCm39) missense possibly damaging 0.53
R9720:Ggta1 UTSW 2 35,303,418 (GRCm39) missense probably benign
R9721:Ggta1 UTSW 2 35,303,418 (GRCm39) missense probably benign
R9723:Ggta1 UTSW 2 35,303,418 (GRCm39) missense probably benign
R9726:Ggta1 UTSW 2 35,292,422 (GRCm39) missense probably damaging 1.00
X0010:Ggta1 UTSW 2 35,292,731 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACAGTTTTAATGGCCATCTGGG -3'
(R):5'- ACTTGTCGCTGAGTGAGTTAC -3'

Sequencing Primer
(F):5'- ATCTGGGGCTCAGGAACAC -3'
(R):5'- CACCTGTGAGCTGCAAATGTG -3'
Posted On 2016-06-09