Incidental Mutation 'R2017:Gla'
ID223318
Institutional Source Beutler Lab
Gene Symbol Gla
Ensembl Gene ENSMUSG00000031266
Gene Namegalactosidase, alpha
SynonymsAgs
MMRRC Submission 040026-MU
Accession Numbers
Is this an essential gene? Not available question?
Stock #R2017 (G1)
Quality Score222
Status Not validated
ChromosomeX
Chromosomal Location134588149-134601125 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 134596322 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 39 (A39T)
Ref Sequence ENSEMBL: ENSMUSP00000123098 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033621] [ENSMUST00000050331] [ENSMUST00000059297] [ENSMUST00000074950] [ENSMUST00000113202] [ENSMUST00000113203] [ENSMUST00000153024]
Predicted Effect probably damaging
Transcript: ENSMUST00000033621
AA Change: A110T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033621
Gene: ENSMUSG00000031266
AA Change: A110T

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
Pfam:Melibiase_2 41 413 3.5e-190 PFAM
Pfam:Melibiase 70 141 1.5e-5 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000050331
SMART Domains Protein: ENSMUSP00000108827
Gene: ENSMUSG00000045427

DomainStartEndE-ValueType
RRM 12 86 2.45e-9 SMART
RRM 112 184 2.77e-8 SMART
low complexity region 234 256 N/A INTRINSIC
RRM 290 360 3.06e-10 SMART
low complexity region 383 401 N/A INTRINSIC
low complexity region 413 433 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000059297
SMART Domains Protein: ENSMUSP00000050838
Gene: ENSMUSG00000045427

DomainStartEndE-ValueType
RRM 12 86 2.45e-9 SMART
RRM 112 184 2.77e-8 SMART
low complexity region 234 256 N/A INTRINSIC
RRM 290 360 3.06e-10 SMART
low complexity region 383 401 N/A INTRINSIC
low complexity region 413 433 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000074950
SMART Domains Protein: ENSMUSP00000074483
Gene: ENSMUSG00000045427

DomainStartEndE-ValueType
RRM 12 86 2.45e-9 SMART
RRM 112 184 2.77e-8 SMART
low complexity region 234 256 N/A INTRINSIC
RRM 290 360 3.06e-10 SMART
low complexity region 383 401 N/A INTRINSIC
low complexity region 413 433 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113202
SMART Domains Protein: ENSMUSP00000108828
Gene: ENSMUSG00000045427

DomainStartEndE-ValueType
RRM 12 86 2.45e-9 SMART
RRM 112 184 2.77e-8 SMART
low complexity region 234 256 N/A INTRINSIC
RRM 290 360 3.06e-10 SMART
low complexity region 383 401 N/A INTRINSIC
low complexity region 413 433 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113203
SMART Domains Protein: ENSMUSP00000108829
Gene: ENSMUSG00000045427

DomainStartEndE-ValueType
RRM 12 86 2.45e-9 SMART
RRM 112 184 2.77e-8 SMART
low complexity region 234 256 N/A INTRINSIC
RRM 290 360 3.06e-10 SMART
low complexity region 383 401 N/A INTRINSIC
low complexity region 413 433 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000153024
AA Change: A39T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123098
Gene: ENSMUSG00000031266
AA Change: A39T

DomainStartEndE-ValueType
Pfam:Melibiase 2 77 6.7e-17 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry disease, a rare lysosomal storage disorder that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties. [provided by RefSeq, Jul 2008]
PHENOTYPE: Hemizygous male mutant mice exhibit lamellar inclusions within lysosomes in the kidneys and an accumulation of ceramidetrihexoside in the liver and kidneys, making these mutants a model of Fary disease. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025C18Rik T C 2: 165,079,026 D29G unknown Het
Abca13 A T 11: 9,290,619 L827F probably damaging Het
Abcc1 T A 16: 14,461,204 V1126E probably damaging Het
Abcc12 A G 8: 86,563,988 L41S probably damaging Het
Adgrg7 T C 16: 56,732,806 T643A probably benign Het
Angpt2 T C 8: 18,705,731 N240S probably damaging Het
Apc A G 18: 34,313,602 T1150A probably benign Het
Apob G A 12: 8,007,751 D2078N possibly damaging Het
Apool T A X: 112,364,561 S234T probably benign Het
Ascc3 C T 10: 50,690,211 P751S probably benign Het
Astn2 G A 4: 65,540,941 T1079I probably damaging Het
Atp8b1 T C 18: 64,540,334 N989S probably damaging Het
B3gnt2 T C 11: 22,836,621 D189G probably damaging Het
Bcas1 A C 2: 170,348,161 probably null Het
Btk T C X: 134,547,601 D355G probably benign Het
C2cd4c A G 10: 79,612,989 V108A possibly damaging Het
Cbfa2t2 T C 2: 154,517,807 L264P probably damaging Het
Cd22 A T 7: 30,872,780 L423Q probably damaging Het
Cep128 T C 12: 91,366,464 D9G probably damaging Het
Cer1 A T 4: 82,882,883 V181D probably damaging Het
Ciita T C 16: 10,511,676 L584P probably damaging Het
Cmss1 T C 16: 57,316,278 D77G probably damaging Het
Col4a2 T C 8: 11,445,086 F1515L probably benign Het
Dcaf1 T A 9: 106,839,088 D360E probably benign Het
Dcaf1 A G 9: 106,847,923 E536G probably damaging Het
Dnah2 T A 11: 69,437,070 I3370F probably damaging Het
Dsg1c T C 18: 20,266,196 V119A possibly damaging Het
Edn3 A G 2: 174,778,662 E103G probably benign Het
Efemp1 G T 11: 28,921,613 R376L probably damaging Het
Eid1 A G 2: 125,673,201 M4V probably benign Het
Emilin3 G A 2: 160,909,610 R170C possibly damaging Het
Epx T C 11: 87,874,337 D178G probably damaging Het
Fam208b A T 13: 3,576,770 I1060K probably benign Het
Fam49a T A 12: 12,362,361 V208D probably damaging Het
Fkbp10 G A 11: 100,421,673 V252I possibly damaging Het
Flnc G A 6: 29,443,797 probably null Het
Fsip2 A G 2: 82,982,732 K3132E possibly damaging Het
H2-Ke6 A T 17: 34,026,213 M259K probably damaging Het
Hivep2 C T 10: 14,130,757 T1033M probably damaging Het
Ikzf4 C T 10: 128,634,157 G498D probably damaging Het
Impg1 T C 9: 80,440,667 Y95C probably damaging Het
Ino80c T A 18: 24,111,753 K136* probably null Het
Iqsec1 A C 6: 90,689,930 H508Q probably benign Het
Itgb3 A G 11: 104,637,962 H305R possibly damaging Het
Jup T A 11: 100,386,341 T14S probably benign Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 52,725,906 probably benign Het
Klf12 T C 14: 100,022,637 R219G possibly damaging Het
Klhl42 G T 6: 147,107,793 V377L probably benign Het
Large1 A G 8: 72,852,197 F460S probably damaging Het
Loxl3 A T 6: 83,048,977 D402V probably damaging Het
Lrrc37a T A 11: 103,501,125 Y1158F probably benign Het
Map2 T A 1: 66,412,799 S365T probably damaging Het
Mapk8ip1 A G 2: 92,391,034 probably null Het
Med26 A G 8: 72,496,947 S103P probably damaging Het
Muc4 T C 16: 32,751,303 S394P possibly damaging Het
Nle1 G T 11: 82,905,547 P166Q probably damaging Het
Obox5 T C 7: 15,758,882 I254T probably benign Het
Olfr1288 G T 2: 111,479,187 M134I probably benign Het
Olfr371 T C 8: 85,230,744 L83P possibly damaging Het
Olfr406 T A 11: 74,270,333 W315R probably benign Het
Olfr592 T C 7: 103,186,930 F110L probably benign Het
Pacs2 A T 12: 113,062,457 N545Y probably damaging Het
Palld T C 8: 61,684,765 E652G probably damaging Het
Pgm5 T C 19: 24,824,312 N184S probably benign Het
Pitpnm1 T C 19: 4,111,873 V955A probably benign Het
Plcb1 T A 2: 135,362,420 I898N possibly damaging Het
Pramef12 A G 4: 144,394,674 V260A possibly damaging Het
Prr36 T A 8: 4,215,205 T182S probably benign Het
Prss35 A G 9: 86,755,512 S112G probably benign Het
Ptprj C T 2: 90,464,614 V417M probably damaging Het
Ptprm G T 17: 66,957,153 probably null Het
Rasgrp2 T C 19: 6,413,165 V498A probably benign Het
Rfx6 A G 10: 51,721,604 N513S possibly damaging Het
Rhbdf1 A G 11: 32,210,471 I693T probably damaging Het
Scn9a T C 2: 66,515,321 T1143A probably damaging Het
Spata17 A G 1: 187,048,453 S366P possibly damaging Het
Svep1 A G 4: 58,070,568 L2406P probably benign Het
Tgfb2 A T 1: 186,630,765 Y287* probably null Het
Trip11 A T 12: 101,885,360 V815E probably benign Het
Trp53bp2 G T 1: 182,449,015 V854L probably benign Het
Ttc30a1 A G 2: 75,981,457 L94P probably benign Het
Vmn1r78 T C 7: 12,153,343 S294P possibly damaging Het
Vmn2r86 T C 10: 130,446,713 K678R probably benign Het
Yeats2 T A 16: 20,159,181 N138K probably benign Het
Zufsp A T 10: 33,927,464 N541K possibly damaging Het
Other mutations in Gla
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00847:Gla APN X 134595198 missense probably benign
Predicted Primers PCR Primer
(F):5'- TCAAGCCCTGGAAACTATTGCG -3'
(R):5'- AGCGCTGAAGTAGTCACCTAAC -3'

Sequencing Primer
(F):5'- CCCTGGAAACTATTGCGAAATG -3'
(R):5'- GCTGAAGTAGTCACCTAACACATTGG -3'
Posted On2014-08-25