Incidental Mutation 'IGL01869:Gpaa1'
ID178661
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 #IGL01869
Quality Score
Status
Chromosome15
Chromosomal Location76331231-76334907 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 76332998 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 178 (T178A)
Ref Sequence ENSEMBL: ENSMUSP00000132986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023221] [ENSMUST00000059045] [ENSMUST00000164972] [ENSMUST00000165279] [ENSMUST00000169378] [ENSMUST00000170121] [ENSMUST00000172281] [ENSMUST00000230512]
Predicted Effect probably benign
Transcript: ENSMUST00000023221
AA Change: T238A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023221
Gene: ENSMUSG00000022561
AA Change: T238A

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
AA Change: T178A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000132986
Gene: ENSMUSG00000022561
AA Change: T178A

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: ENSMUST00000230683
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230818
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700026F02Rik A G 8: 71,043,045 noncoding transcript Het
Adam29 T C 8: 55,871,697 H574R probably damaging Het
Arap1 C A 7: 101,400,283 T984K probably damaging Het
Ccdc146 A T 5: 21,316,839 S396T probably benign Het
Col6a3 T C 1: 90,773,048 K2587E unknown Het
Cyp3a44 A G 5: 145,790,686 S278P probably damaging Het
Daw1 T G 1: 83,182,244 probably benign Het
Dnah17 T C 11: 118,052,676 K3200R probably benign Het
Efhd2 A G 4: 141,874,602 F89S probably damaging Het
Fras1 A G 5: 96,708,783 probably benign Het
Ggps1 T C 13: 14,054,394 D68G probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm3604 A T 13: 62,370,140 C134S probably damaging Het
Lama3 A G 18: 12,524,763 N312S possibly damaging Het
Npepps T C 11: 97,236,122 I437M probably damaging Het
Olfr1495 A G 19: 13,769,170 D276G probably benign Het
Olfr266 C T 3: 106,822,026 D178N probably benign Het
Rcor1 C A 12: 111,103,759 T330K possibly damaging Het
Sbno2 A G 10: 80,060,392 probably null Het
Sema3g A G 14: 31,223,667 E478G probably damaging Het
Smg9 A G 7: 24,416,524 D280G probably damaging Het
Smtnl1 A T 2: 84,811,397 *460R probably null Het
Syde1 A G 10: 78,588,919 C360R possibly damaging Het
Szt2 A G 4: 118,399,071 V197A possibly damaging Het
Tnrc6c T C 11: 117,755,448 V1405A possibly damaging Het
Ttbk1 A G 17: 46,447,063 S882P probably damaging Het
Tubgcp4 T A 2: 121,175,788 H116Q possibly damaging Het
Vmn1r192 T A 13: 22,187,580 N157Y probably damaging Het
Vmn1r60 C T 7: 5,544,229 V291M probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Xpo5 C T 17: 46,242,207 P1184L possibly damaging Het
Zfp946 T G 17: 22,454,703 I146S probably benign Het
Other mutations in Gpaa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02951:Gpaa1 APN 15 76332819 unclassified probably benign
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 unclassified 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
Z1088:Gpaa1 UTSW 15 76332542 missense possibly damaging 0.92
Posted On2014-05-07