Incidental Mutation 'IGL01889:Gapt'
ID179203
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gapt
Ensembl Gene ENSMUSG00000046006
Gene NameGrb2-binding adaptor, transmembrane
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01889
Quality Score
Status
Chromosome13
Chromosomal Location110352616-110357199 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 110353967 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 54 (Q54L)
Ref Sequence ENSEMBL: ENSMUSP00000153170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058806] [ENSMUST00000224534]
Predicted Effect probably benign
Transcript: ENSMUST00000058806
AA Change: Q54L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000053775
Gene: ENSMUSG00000046006
AA Change: Q54L

DomainStartEndE-ValueType
Pfam:GAPT 1 155 2.5e-77 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224534
AA Change: Q54L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit increased B cell proliferation, marginal zone B cell numbers and concentrations of IgM, IgG2b and IgG3. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730049H05Rik G A 6: 92,828,000 probably benign Het
Brap G A 5: 121,660,818 V18I probably benign Het
Csmd1 C T 8: 15,998,857 V2282M probably damaging Het
Flnb A G 14: 7,935,967 E2269G possibly damaging Het
Gaa A G 11: 119,278,297 I557V probably benign Het
Gsdmc A T 15: 63,780,003 I253N possibly damaging Het
Kcnj3 T A 2: 55,437,204 S2T possibly damaging Het
Mindy2 T C 9: 70,631,162 probably benign Het
Ncor1 A G 11: 62,334,601 V1048A possibly damaging Het
Nlrp4d A T 7: 10,378,334 V636D unknown Het
Nphs1 G T 7: 30,460,511 R82S probably damaging Het
Olfr1269 A G 2: 90,118,965 V211A possibly damaging Het
Olfr1336 G A 7: 6,460,503 probably benign Het
Olfr512 T A 7: 108,713,882 F164L probably benign Het
Papln T A 12: 83,786,835 L1175Q probably benign Het
Rab22a T C 2: 173,688,238 probably benign Het
Rel A G 11: 23,757,035 Y56H probably damaging Het
Sdc4 A G 2: 164,431,207 L61P probably damaging Het
Slc1a4 A G 11: 20,314,089 probably benign Het
Ubr4 T A 4: 139,462,472 C3989* probably null Het
Zfyve16 A G 13: 92,522,569 V278A possibly damaging Het
Other mutations in Gapt
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0862:Gapt UTSW 13 110353739 missense probably damaging 0.99
R0864:Gapt UTSW 13 110353739 missense probably damaging 0.99
R0980:Gapt UTSW 13 110353739 missense probably damaging 0.99
R0981:Gapt UTSW 13 110353739 missense probably damaging 0.99
R1183:Gapt UTSW 13 110353838 missense possibly damaging 0.92
R1953:Gapt UTSW 13 110353806 missense probably damaging 0.99
R4248:Gapt UTSW 13 110353755 missense probably damaging 0.99
R5225:Gapt UTSW 13 110353988 missense possibly damaging 0.71
R5969:Gapt UTSW 13 110353946 missense probably benign 0.27
R7494:Gapt UTSW 13 110353728 missense probably damaging 0.99
Posted On2014-05-07