Incidental Mutation 'PIT4472001:Gpaa1'
ID 555884
Institutional Source Beutler Lab
Gene Symbol Gpaa1
Ensembl Gene ENSMUSG00000022561
Gene Name GPI anchor attachment protein 1
Synonyms mGAA1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # PIT4472001 (G1)
Quality Score 147.008
Status Not validated
Chromosome 15
Chromosomal Location 76215494-76219099 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 76218940 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 594 (T594I)
Ref Sequence ENSEMBL: ENSMUSP00000023221 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023221] [ENSMUST00000059045] [ENSMUST00000164972] [ENSMUST00000169378] [ENSMUST00000170121] [ENSMUST00000172281] [ENSMUST00000230512]
AlphaFold Q9WTK3
Predicted Effect probably benign
Transcript: ENSMUST00000023221
AA Change: T594I

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000023221
Gene: ENSMUSG00000022561
AA Change: T594I

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 probably benign
Transcript: ENSMUST00000164972
SMART Domains Protein: ENSMUSP00000127108
Gene: ENSMUSG00000022561

DomainStartEndE-ValueType
low complexity region 8 20 N/A INTRINSIC
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 probably benign
Transcript: ENSMUST00000172281
AA Change: T534I

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000132986
Gene: ENSMUSG00000022561
AA Change: T534I

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Gaa1 64 560 3e-205 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000230512
Coding Region Coverage
  • 1x: 93.7%
  • 3x: 90.8%
  • 10x: 84.2%
  • 20x: 70.1%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt C A 9: 99,502,613 (GRCm39) P258T probably damaging Het
Arvcf T C 16: 18,221,699 (GRCm39) V714A possibly damaging Het
Bcas3 A G 11: 85,422,726 (GRCm39) I532V probably damaging Het
Cbr1 T A 16: 93,406,692 (GRCm39) V136E probably damaging Het
Ccdc27 T C 4: 154,126,184 (GRCm39) M102V unknown Het
Ccr1 T C 9: 123,763,765 (GRCm39) Y255C probably damaging Het
Cd300e T A 11: 114,945,336 (GRCm39) I153F possibly damaging Het
Chd7 C T 4: 8,753,101 (GRCm39) L533F unknown Het
Cpvl A T 6: 53,873,464 (GRCm39) F424Y possibly damaging Het
Cxcl16 C T 11: 70,349,625 (GRCm39) G80R probably damaging Het
Cyp2g1 T C 7: 26,513,619 (GRCm39) V186A probably benign Het
Cyp4f15 T A 17: 32,921,798 (GRCm39) M490K probably damaging Het
D630045J12Rik A T 6: 38,155,774 (GRCm39) V1160D probably damaging Het
Dennd2b G A 7: 109,130,337 (GRCm39) A888V probably damaging Het
Fbn1 T C 2: 125,148,421 (GRCm39) D2609G possibly damaging Het
Fgf5 T A 5: 98,409,838 (GRCm39) V129E probably damaging Het
Fhl5 C A 4: 25,211,194 (GRCm39) C166F probably damaging Het
Frem1 G A 4: 82,890,374 (GRCm39) T1035I probably benign Het
Gcnt2 G A 13: 41,071,413 (GRCm39) V19M probably benign Het
Gga1 C A 15: 78,777,836 (GRCm39) A595D probably damaging Het
Gskip C T 12: 105,651,121 (GRCm39) probably benign Het
Ighv1-72 A G 12: 115,721,620 (GRCm39) V112A probably damaging Het
Krt16 T A 11: 100,138,732 (GRCm39) T185S probably benign Het
Lama1 T C 17: 68,071,699 (GRCm39) V862A Het
Lats2 A C 14: 57,936,814 (GRCm39) Y558* probably null Het
Mast4 G A 13: 102,941,226 (GRCm39) T277M probably damaging Het
Mnx1 T C 5: 29,679,105 (GRCm39) E326G unknown Het
Mtmr10 A G 7: 63,983,106 (GRCm39) E471G probably benign Het
Or5p64 C T 7: 107,855,310 (GRCm39) V12M possibly damaging Het
Otog G A 7: 45,945,273 (GRCm39) V2177M probably damaging Het
Ovgp1 A G 3: 105,894,306 (GRCm39) E693G unknown Het
Pclo T C 5: 14,763,182 (GRCm39) M600T possibly damaging Het
Pdgfra T A 5: 75,340,907 (GRCm39) M622K probably damaging Het
Pdxdc1 A G 16: 13,663,209 (GRCm39) L428P probably damaging Het
Pfkfb4 T C 9: 108,828,222 (GRCm39) Y86H probably benign Het
Pik3cg A G 12: 32,254,983 (GRCm39) Y335H probably damaging Het
Podnl1 G A 8: 84,854,477 (GRCm39) V150M Het
Pou4f3 A G 18: 42,527,717 (GRCm39) M4V probably benign Het
Ppp1r13b G A 12: 111,799,074 (GRCm39) R864C probably damaging Het
R3hdm4 A G 10: 79,749,389 (GRCm39) probably null Het
Skil T A 3: 31,152,381 (GRCm39) V301D probably damaging Het
Sptb G A 12: 76,667,460 (GRCm39) T879M probably damaging Het
Strip1 G A 3: 107,535,486 (GRCm39) A79V probably benign Het
Tpgs2 G A 18: 25,301,652 (GRCm39) T5M possibly damaging Het
Trim34a T A 7: 103,897,155 (GRCm39) L73Q probably damaging Het
Trpv4 T A 5: 114,764,984 (GRCm39) T677S probably damaging Het
Vmn2r23 A G 6: 123,689,936 (GRCm39) T271A possibly damaging 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
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
R4165:Gpaa1 UTSW 15 76,216,667 (GRCm39) unclassified probably benign
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'- ATGGTGCGTACTTAAATGTTGCC -3'
(R):5'- TCCTCTAAAGGGGCGAACAG -3'

Sequencing Primer
(F):5'- AAATGTTGCCCTTCTCCCCAGG -3'
(R):5'- CTCTGAGAAGACAGCGGGC -3'
Posted On 2019-06-07