Incidental Mutation 'IGL02951:Gpaa1'
ID366023
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpaa1
Ensembl Gene ENSMUSG00000022561
Gene NameGPI anchor attachment protein 1
SynonymsmGAA1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02951
Quality Score
Status
Chromosome15
Chromosomal Location76331231-76334907 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to A at 76332819 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023221] [ENSMUST00000059045] [ENSMUST00000164972] [ENSMUST00000165279] [ENSMUST00000169378] [ENSMUST00000170121] [ENSMUST00000172281] [ENSMUST00000230512]
Predicted Effect probably benign
Transcript: ENSMUST00000023221
SMART Domains Protein: ENSMUSP00000023221
Gene: ENSMUSG00000022561

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
low complexity region 68 81 N/A INTRINSIC
Pfam:Gaa1 125 615 3.8e-155 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000059045
SMART Domains Protein: ENSMUSP00000050940
Gene: ENSMUSG00000034259

DomainStartEndE-ValueType
Pfam:RNase_PH 21 152 5.1e-37 PFAM
Pfam:RNase_PH_C 155 220 1.9e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000074205
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163798
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164680
Predicted Effect probably benign
Transcript: ENSMUST00000164972
SMART Domains Protein: ENSMUSP00000127108
Gene: ENSMUSG00000022561

DomainStartEndE-ValueType
low complexity region 8 20 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165179
Predicted Effect probably benign
Transcript: ENSMUST00000165279
SMART Domains Protein: ENSMUSP00000127955
Gene: ENSMUSG00000022562

DomainStartEndE-ValueType
Pfam:Hydant_A_N 9 53 8.2e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167515
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168948
SMART Domains Protein: ENSMUSP00000126326
Gene: ENSMUSG00000022561

DomainStartEndE-ValueType
Pfam:Gaa1 1 129 1.9e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169378
SMART Domains Protein: ENSMUSP00000128507
Gene: ENSMUSG00000022561

DomainStartEndE-ValueType
low complexity region 19 32 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170121
SMART Domains Protein: ENSMUSP00000133173
Gene: ENSMUSG00000022561

DomainStartEndE-ValueType
low complexity region 9 22 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171005
Predicted Effect probably benign
Transcript: ENSMUST00000172281
SMART Domains Protein: ENSMUSP00000132986
Gene: ENSMUSG00000022561

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Gaa1 64 560 3e-205 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000230512
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230818
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230683
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Posttranslational glycosylphosphatidylinositol (GPI) anchor attachment serves as a general mechanism for linking proteins to the cell surface membrane. The protein encoded by this gene presumably functions in GPI anchoring at the GPI transfer step. The mRNA transcript is ubiquitously expressed in both fetal and adult tissues. The anchor attachment protein 1 contains an N-terminal signal sequence, 1 cAMP- and cGMP-dependent protein kinase phosphorylation site, 1 leucine zipper pattern, 2 potential N-glycosylation sites, and 8 putative transmembrane domains. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik C A 10: 76,454,702 probably benign Het
Acot10 G A 15: 20,665,782 T291I probably benign Het
Atp13a3 A G 16: 30,338,621 probably null Het
Atp2a1 C T 7: 126,450,227 V548M possibly damaging Het
Bsn G A 9: 108,115,613 S980L probably damaging Het
Ccdc158 A G 5: 92,650,006 M425T probably damaging Het
Cdh23 A G 10: 60,311,364 L2733S probably damaging Het
Chd3 C T 11: 69,361,048 probably null Het
Dock2 T C 11: 34,310,448 probably benign Het
Elfn2 T C 15: 78,671,882 K822E probably damaging Het
Eps15l1 G A 8: 72,358,396 S764L probably benign Het
Etl4 C A 2: 20,801,537 probably benign Het
Faap24 C A 7: 35,392,951 K180N probably damaging Het
Fam205a1 C T 4: 42,850,696 E487K probably benign Het
Fhod1 G A 8: 105,331,230 R888W probably damaging Het
Fus T C 7: 127,981,837 probably benign Het
Gm3453 T C 14: 5,976,168 E201G possibly damaging Het
Gm5346 T G 8: 43,627,088 H33P possibly damaging Het
Gnpat G T 8: 124,870,905 D69Y probably benign Het
Gsta1 A T 9: 78,242,537 K211* probably null Het
Lct G T 1: 128,300,211 Q1182K probably damaging Het
Mroh1 T C 15: 76,427,636 L523P probably damaging Het
Mrpl46 A G 7: 78,775,452 probably benign Het
Mst1r G T 9: 107,908,204 V354F possibly damaging Het
Myo15b A G 11: 115,881,301 D299G probably damaging Het
Myo6 G A 9: 80,264,234 V506I possibly damaging Het
Nadk A C 4: 155,587,476 K271Q probably benign Het
Nbas A G 12: 13,362,541 R954G probably benign Het
Nbr1 T A 11: 101,571,979 probably null Het
Nup88 T C 11: 70,944,872 D587G possibly damaging Het
Oas1a A T 5: 120,905,664 F135Y probably damaging Het
Obscn A G 11: 58,994,513 probably benign Het
Odf3l2 T C 10: 79,639,977 N251S probably benign Het
Olfr1290 T G 2: 111,490,120 I13L probably benign Het
Parp14 G A 16: 35,858,533 T355I probably benign Het
Pdgfd G T 9: 6,288,494 L43F probably damaging Het
Pou5f2 T C 13: 78,025,118 S60P probably benign Het
Prp2 A G 6: 132,599,825 N25S unknown Het
Ptprq A T 10: 107,667,460 F779Y probably benign Het
Rims2 C T 15: 39,534,938 R1078C probably damaging Het
Rnf38 G T 4: 44,129,619 S425* probably null Het
Rps21 T A 2: 180,258,047 I59N probably damaging Het
Scn5a A T 9: 119,495,685 F1359Y probably damaging Het
Slc35b2 A G 17: 45,564,768 E67G probably damaging Het
Slc37a2 A G 9: 37,255,315 F15L probably benign Het
Snapc4 A C 2: 26,370,835 N465K probably benign Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Taco1 A G 11: 106,069,527 N98S probably benign Het
Tcea3 T C 4: 136,257,988 probably null Het
Thada T C 17: 84,444,028 S507G probably benign Het
Tmem132b T A 5: 125,787,547 C906S probably damaging Het
Trpm2 A T 10: 77,929,278 I963N possibly damaging Het
Usp10 A G 8: 119,947,086 T397A probably benign Het
Usp3 G A 9: 66,542,550 R160* probably null Het
Utp15 T C 13: 98,257,952 Y144C probably damaging Het
Xpc G A 6: 91,506,849 R172W probably damaging Het
Other mutations in Gpaa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01869:Gpaa1 APN 15 76332998 missense probably benign
IGL02040:Gpaa1 APN 15 76334295 missense probably benign 0.17
IGL02162:Gpaa1 APN 15 76332153 unclassified probably benign
IGL02430:Gpaa1 APN 15 76332188 missense possibly damaging 0.93
PIT4466001:Gpaa1 UTSW 15 76334740 missense probably benign 0.03
PIT4472001:Gpaa1 UTSW 15 76334740 missense probably benign 0.03
R0137:Gpaa1 UTSW 15 76334781 missense probably damaging 1.00
R0458:Gpaa1 UTSW 15 76332033 missense probably benign 0.06
R0760:Gpaa1 UTSW 15 76331919 missense probably benign 0.01
R1681:Gpaa1 UTSW 15 76331453 missense probably benign
R1691:Gpaa1 UTSW 15 76332216 missense probably damaging 0.99
R2124:Gpaa1 UTSW 15 76333352 missense probably damaging 1.00
R4165:Gpaa1 UTSW 15 76332467 unclassified probably benign
R4166:Gpaa1 UTSW 15 76332467 unclassified probably benign
R4775:Gpaa1 UTSW 15 76334691 splice site probably null
R4844:Gpaa1 UTSW 15 76332308 unclassified probably benign
R5007:Gpaa1 UTSW 15 76331668 nonsense probably null
R5331:Gpaa1 UTSW 15 76332311 unclassified probably benign
R5804:Gpaa1 UTSW 15 76332626 missense probably damaging 1.00
R5828:Gpaa1 UTSW 15 76332271 unclassified probably benign
R6221:Gpaa1 UTSW 15 76333832 missense probably benign 0.00
R7408:Gpaa1 UTSW 15 76332993 missense probably damaging 1.00
R8255:Gpaa1 UTSW 15 76333238 missense probably damaging 1.00
R8309:Gpaa1 UTSW 15 76331960 missense possibly damaging 0.81
Z1088:Gpaa1 UTSW 15 76332542 missense possibly damaging 0.92
Posted On2015-12-18