Incidental Mutation 'R7152:Ggta1'
ID 554173
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
MMRRC Submission 045254-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7152 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 35290191-35353243 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 35292711 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 199 (M199L)
Ref Sequence ENSEMBL: ENSMUSP00000108626 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044255] [ENSMUST00000079424] [ENSMUST00000102794] [ENSMUST00000113001] [ENSMUST00000113002] [ENSMUST00000164889]
AlphaFold P23336
Predicted Effect probably benign
Transcript: ENSMUST00000044255
AA Change: M211L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000049408
Gene: ENSMUSG00000035778
AA Change: M211L

DomainStartEndE-ValueType
transmembrane domain 42 60 N/A INTRINSIC
Pfam:Glyco_transf_6 81 404 1.2e-165 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000079424
AA Change: M177L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000078393
Gene: ENSMUSG00000035778
AA Change: M177L

DomainStartEndE-ValueType
Pfam:Glyco_transf_6 34 370 5.5e-177 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102794
AA Change: M211L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099858
Gene: ENSMUSG00000035778
AA Change: M211L

DomainStartEndE-ValueType
transmembrane domain 42 60 N/A INTRINSIC
Pfam:Glyco_transf_6 74 404 4.3e-182 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113001
AA Change: M189L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108625
Gene: ENSMUSG00000035778
AA Change: M189L

DomainStartEndE-ValueType
Pfam:Glyco_transf_6 45 382 3.6e-177 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113002
AA Change: M199L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108626
Gene: ENSMUSG00000035778
AA Change: M199L

DomainStartEndE-ValueType
transmembrane domain 42 60 N/A INTRINSIC
Pfam:Glyco_transf_6 62 392 3.6e-182 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164889
AA Change: M199L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000132408
Gene: ENSMUSG00000035778
AA Change: M199L

DomainStartEndE-ValueType
transmembrane domain 42 60 N/A INTRINSIC
Pfam:Glyco_transf_6 62 392 3.6e-182 PFAM
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (53/53)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Btnl10 A G 11: 58,813,223 (GRCm39) N284S probably benign Het
Casz1 C G 4: 148,985,748 (GRCm39) probably benign Het
Cdkn2c A T 4: 109,522,235 (GRCm39) F37I probably damaging Het
Cdyl2 T C 8: 117,351,066 (GRCm39) K22E probably damaging Het
Cers1 T C 8: 70,770,901 (GRCm39) W104R probably damaging Het
Cgrrf1 T A 14: 47,090,934 (GRCm39) Y223* probably null Het
Cited2 C A 10: 17,600,134 (GRCm39) N147K probably benign Het
Clip2 A T 5: 134,525,095 (GRCm39) L904Q probably damaging Het
Cntln T C 4: 84,802,937 (GRCm39) V79A possibly damaging Het
Cntnap1 C T 11: 101,068,152 (GRCm39) R55W probably damaging Het
Cspg4b T C 13: 113,455,384 (GRCm39) F477L Het
Ctnna2 T A 6: 76,957,807 (GRCm39) T481S possibly damaging Het
Ddx17 T C 15: 79,414,464 (GRCm39) T570A possibly damaging Het
Epha7 A G 4: 28,935,826 (GRCm39) K483E possibly damaging Het
Eps8l2 A T 7: 140,935,678 (GRCm39) I150F possibly damaging Het
Esyt1 A G 10: 128,351,629 (GRCm39) S827P possibly damaging Het
Fbxl13 T A 5: 21,787,065 (GRCm39) I291F possibly damaging Het
Foxd3 A C 4: 99,545,562 (GRCm39) H234P probably benign Het
H3c13 A G 3: 96,176,254 (GRCm39) D82G probably benign Het
Ighv5-15 T C 12: 113,790,317 (GRCm39) E101G probably benign Het
Igkv8-18 T C 6: 70,333,205 (GRCm39) L49P probably damaging Het
Itpr1 T C 6: 108,371,368 (GRCm39) probably null Het
Klhl36 C T 8: 120,596,953 (GRCm39) T218M probably benign Het
Ltn1 A G 16: 87,224,529 (GRCm39) F65S probably damaging Het
Marchf3 A G 18: 56,909,053 (GRCm39) V244A probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Ndst3 T A 3: 123,346,305 (GRCm39) I642F possibly damaging Het
Neb T C 2: 52,153,557 (GRCm39) D2456G probably damaging Het
Nphp1 A G 2: 127,595,899 (GRCm39) M522T probably benign Het
Or51k1 T A 7: 103,661,226 (GRCm39) M228L probably benign Het
Or8k33 C T 2: 86,383,673 (GRCm39) S265N probably benign Het
Pam T A 1: 97,813,465 (GRCm39) M322L probably damaging Het
Pcdhgb1 C A 18: 37,814,854 (GRCm39) H448Q probably benign Het
Pcnt T C 10: 76,247,194 (GRCm39) probably null Het
Pgm3 A T 9: 86,449,593 (GRCm39) D142E probably benign Het
Pomgnt2 C T 9: 121,812,589 (GRCm39) G64D probably damaging Het
Sds A T 5: 120,619,716 (GRCm39) probably null Het
Sirpb1b G T 3: 15,607,230 (GRCm39) Q351K probably benign Het
Slc2a12 T A 10: 22,541,453 (GRCm39) M436K probably benign Het
Slc9a5 G A 8: 106,095,025 (GRCm39) G872D probably benign Het
Stxbp2 T G 8: 3,682,583 (GRCm39) S57R probably benign Het
Sult2a6 T A 7: 13,956,445 (GRCm39) D272V probably benign Het
Supt5 A G 7: 28,023,325 (GRCm39) M318T probably benign Het
Tdpoz3 T C 3: 93,733,772 (GRCm39) V149A probably damaging Het
Tead2 T A 7: 44,869,871 (GRCm39) S124T possibly damaging Het
Tssc4 T A 7: 142,624,139 (GRCm39) V149D probably damaging Het
Ttn C T 2: 76,683,505 (GRCm39) A906T Het
Uspl1 A G 5: 149,124,588 (GRCm39) T2A possibly damaging Het
Vmn1r124 G A 7: 20,994,184 (GRCm39) P120L probably benign Het
Vmn1r37 T C 6: 66,708,883 (GRCm39) Y170H probably benign Het
Vnn3 T A 10: 23,727,513 (GRCm39) V11E possibly damaging Het
Zbtb7b C T 3: 89,288,209 (GRCm39) R203H probably benign Het
Zfhx3 T C 8: 109,674,839 (GRCm39) V1963A possibly damaging Het
Zfp324 C A 7: 12,700,198 (GRCm39) A19E probably benign Het
Zfyve26 T C 12: 79,325,888 (GRCm39) S784G 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
IGL02799:Ggta1 UTSW 2 35,312,211 (GRCm39) missense probably damaging 0.98
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
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'- CTTGATCCACGTCCATGCAG -3'
(R):5'- TCGAGTGGTATGTGGAGAAGCC -3'

Sequencing Primer
(F):5'- TTGATCCACGTCCATGCAGAAGAG -3'
(R):5'- TGGAGAAGCCATCCCCTC -3'
Posted On 2019-05-15