Incidental Mutation 'R4165:Gpaa1'
ID 321707
Institutional Source Beutler Lab
Gene Symbol Gpaa1
Ensembl Gene ENSMUSG00000022561
Gene Name GPI anchor attachment protein 1
Synonyms mGAA1
MMRRC Submission 041007-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4165 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 76215494-76219099 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to C at 76216667 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023221] [ENSMUST00000059045] [ENSMUST00000164972] [ENSMUST00000172281] [ENSMUST00000170121] [ENSMUST00000230512] [ENSMUST00000165279] [ENSMUST00000169378]
AlphaFold Q9WTK3
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: 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 noncoding transcript
Transcript: ENSMUST00000167515
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 noncoding transcript
Transcript: ENSMUST00000230683
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: ENSMUST00000168948
SMART Domains Protein: ENSMUSP00000126326
Gene: ENSMUSG00000022561

DomainStartEndE-ValueType
Pfam:Gaa1 1 129 1.9e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000230512
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 probably benign
Transcript: ENSMUST00000169378
SMART Domains Protein: ENSMUSP00000128507
Gene: ENSMUSG00000022561

DomainStartEndE-ValueType
low complexity region 19 32 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230818
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 97% (38/39)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T A 6: 86,827,044 (GRCm39) F4I probably damaging Het
Adamts8 G T 9: 30,862,684 (GRCm39) E296D probably benign Het
Alg11 T C 8: 22,555,573 (GRCm39) V278A probably damaging Het
Ankfy1 G A 11: 72,605,310 (GRCm39) probably null Het
Avil C T 10: 126,842,496 (GRCm39) Q92* probably null Het
Cfap300 A T 9: 8,026,071 (GRCm39) L167Q probably damaging Het
CK137956 A T 4: 127,864,522 (GRCm39) S36T possibly damaging Het
Epb41l3 T C 17: 69,514,883 (GRCm39) S7P probably damaging Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fsd2 T C 7: 81,195,608 (GRCm39) T434A probably damaging Het
Gm5174 A G 10: 86,492,797 (GRCm39) noncoding transcript Het
Grina T A 15: 76,133,529 (GRCm39) L334Q probably damaging Het
Gvin-ps5 T A 7: 105,929,895 (GRCm39) noncoding transcript Het
Igkv15-103 G T 6: 68,414,824 (GRCm39) G88* probably null Het
Ip6k2 G A 9: 108,682,847 (GRCm39) R319Q probably benign Het
Kdm3b A T 18: 34,928,797 (GRCm39) I183F probably benign Het
Kyat3 A G 3: 142,432,066 (GRCm39) probably null Het
Larp7 A G 3: 127,330,611 (GRCm39) Y569H probably benign Het
Loxhd1 A T 18: 77,460,025 (GRCm39) I758F probably damaging Het
Nr1d2 T C 14: 18,215,446 (GRCm38) I189V probably benign Het
Odad2 A T 18: 7,217,008 (GRCm39) I668K probably damaging Het
Pcdhb19 T A 18: 37,632,243 (GRCm39) N679K probably benign Het
Pigr G A 1: 130,769,554 (GRCm39) D122N probably benign Het
Prap1 T A 7: 139,676,091 (GRCm39) V35E probably benign Het
Prdm1 T A 10: 44,317,572 (GRCm39) Y417F probably benign Het
Ralgapa1 C T 12: 55,687,429 (GRCm39) R2019Q probably damaging Het
Rps3 T C 7: 99,132,816 (GRCm39) I5V probably benign Het
Sema3a A T 5: 13,523,364 (GRCm39) probably null Het
Serpina3g A T 12: 104,206,546 (GRCm39) T116S probably benign Het
Skint11 C A 4: 114,101,856 (GRCm39) Q99K probably benign Het
Slc22a28 A G 19: 8,040,773 (GRCm39) S493P possibly damaging Het
Snapc1 G T 12: 74,029,354 (GRCm39) probably null Het
Sobp C T 10: 42,897,644 (GRCm39) G647D probably damaging Het
Tomm22 C A 15: 79,555,206 (GRCm39) probably benign Het
Trappc11 T C 8: 47,978,003 (GRCm39) probably benign Het
Txnl4a T A 18: 80,265,471 (GRCm39) M112K probably benign Het
Vmn2r16 T C 5: 109,478,427 (GRCm39) F61L possibly damaging Het
Zfp709 C T 8: 72,644,649 (GRCm39) Q693* probably null Het
Other mutations in Gpaa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01869:Gpaa1 APN 15 76,217,198 (GRCm39) missense probably benign
IGL02040:Gpaa1 APN 15 76,218,495 (GRCm39) missense probably benign 0.17
IGL02162:Gpaa1 APN 15 76,216,353 (GRCm39) unclassified probably benign
IGL02430:Gpaa1 APN 15 76,216,388 (GRCm39) missense possibly damaging 0.93
IGL02951:Gpaa1 APN 15 76,217,019 (GRCm39) unclassified probably benign
PIT4466001:Gpaa1 UTSW 15 76,218,940 (GRCm39) missense probably benign 0.03
PIT4472001:Gpaa1 UTSW 15 76,218,940 (GRCm39) missense probably benign 0.03
R0137:Gpaa1 UTSW 15 76,218,981 (GRCm39) missense probably damaging 1.00
R0458:Gpaa1 UTSW 15 76,216,233 (GRCm39) missense probably benign 0.06
R0760:Gpaa1 UTSW 15 76,216,119 (GRCm39) missense probably benign 0.01
R1681:Gpaa1 UTSW 15 76,215,653 (GRCm39) missense probably benign
R1691:Gpaa1 UTSW 15 76,216,416 (GRCm39) missense probably damaging 0.99
R2124:Gpaa1 UTSW 15 76,217,552 (GRCm39) missense probably damaging 1.00
R4166:Gpaa1 UTSW 15 76,216,667 (GRCm39) unclassified probably benign
R4775:Gpaa1 UTSW 15 76,218,891 (GRCm39) splice site probably null
R4844:Gpaa1 UTSW 15 76,216,508 (GRCm39) unclassified probably benign
R5007:Gpaa1 UTSW 15 76,215,868 (GRCm39) nonsense probably null
R5331:Gpaa1 UTSW 15 76,216,511 (GRCm39) unclassified probably benign
R5804:Gpaa1 UTSW 15 76,216,826 (GRCm39) missense probably damaging 1.00
R5828:Gpaa1 UTSW 15 76,216,471 (GRCm39) unclassified probably benign
R6221:Gpaa1 UTSW 15 76,218,032 (GRCm39) missense probably benign 0.00
R7408:Gpaa1 UTSW 15 76,217,193 (GRCm39) missense probably damaging 1.00
R8255:Gpaa1 UTSW 15 76,217,438 (GRCm39) missense probably damaging 1.00
R8309:Gpaa1 UTSW 15 76,216,160 (GRCm39) missense possibly damaging 0.81
R9376:Gpaa1 UTSW 15 76,218,826 (GRCm39) missense possibly damaging 0.88
R9402:Gpaa1 UTSW 15 76,216,418 (GRCm39) missense probably benign 0.00
Z1088:Gpaa1 UTSW 15 76,216,742 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- AACTACCCTTCCCGGATGAG -3'
(R):5'- AGAGCCTCACCTCGGAAATG -3'

Sequencing Primer
(F):5'- ACCCACGAGCGCTATGTATTGAG -3'
(R):5'- TCACCTCGGAAATGGGCAG -3'
Posted On 2015-06-12