Incidental Mutation 'IGL01947:Dapp1'
ID 181245
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dapp1
Ensembl Gene ENSMUSG00000028159
Gene Name dual adaptor for phosphotyrosine and 3-phosphoinositides 1
Synonyms Bam32
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # IGL01947
Quality Score
Status
Chromosome 3
Chromosomal Location 137636768-137687306 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 137641404 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 197 (Y197C)
Ref Sequence ENSEMBL: ENSMUSP00000119634 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029806] [ENSMUST00000136613]
AlphaFold Q9QXT1
Predicted Effect probably damaging
Transcript: ENSMUST00000029806
AA Change: Y238C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029806
Gene: ENSMUSG00000028159
AA Change: Y238C

DomainStartEndE-ValueType
SH2 33 115 1.1e-20 SMART
PH 165 261 6.64e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124827
Predicted Effect probably damaging
Transcript: ENSMUST00000136613
AA Change: Y197C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119634
Gene: ENSMUSG00000028159
AA Change: Y197C

DomainStartEndE-ValueType
PH 124 220 6.64e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154716
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184222
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Inactivation of this gene invokes immune defects stemming from impaired B cell receptor crosslinking. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl4 T C 3: 151,216,428 (GRCm39) probably null Het
Aloxe3 T A 11: 69,033,847 (GRCm39) probably benign Het
Atic C T 1: 71,609,996 (GRCm39) probably benign Het
Avpr1a T C 10: 122,288,087 (GRCm39) V365A probably benign Het
Brd7 A G 8: 89,059,503 (GRCm39) probably benign Het
Cc2d2a A G 5: 43,845,579 (GRCm39) N332D probably damaging Het
Cdh20 C T 1: 104,921,649 (GRCm39) P649S possibly damaging Het
Cgnl1 T C 9: 71,632,326 (GRCm39) T342A probably damaging Het
Chst10 A G 1: 38,904,646 (GRCm39) L349P probably damaging Het
Cox6b2 T A 7: 4,754,929 (GRCm39) K77* probably null Het
Crnkl1 G A 2: 145,763,744 (GRCm39) A498V probably benign Het
Cux1 A G 5: 136,303,979 (GRCm39) L1394P probably benign Het
Dcc A G 18: 71,959,280 (GRCm39) I164T probably benign Het
Disp3 T A 4: 148,344,976 (GRCm39) I472F probably damaging Het
Gm10392 A T 11: 77,408,306 (GRCm39) D104E probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gpd1 A G 15: 99,618,112 (GRCm39) I143V possibly damaging Het
Hmcn1 T A 1: 150,608,643 (GRCm39) N1513I possibly damaging Het
Jakmip2 T C 18: 43,680,159 (GRCm39) I733V probably benign Het
Klhl12 T A 1: 134,391,689 (GRCm39) L107H probably damaging Het
Lcn8 A G 2: 25,545,157 (GRCm39) D109G probably damaging Het
Maz A T 7: 126,623,614 (GRCm39) probably null Het
Mttp T A 3: 137,812,890 (GRCm39) D595V probably damaging Het
Mymk A C 2: 26,956,406 (GRCm39) L58R possibly damaging Het
Nckap1 A C 2: 80,339,097 (GRCm39) I977S probably damaging Het
Nckap1l A T 15: 103,399,442 (GRCm39) I1021F probably benign Het
Or12d2 A T 17: 37,624,556 (GRCm39) C240S probably damaging Het
Or4f14b A T 2: 111,775,339 (GRCm39) M154K probably benign Het
Or4f6 A T 2: 111,839,361 (GRCm39) S57T possibly damaging Het
Or6c38 G A 10: 128,929,747 (GRCm39) T32I possibly damaging Het
Pde5a T A 3: 122,629,259 (GRCm39) F644L probably damaging Het
Pdzd2 A G 15: 12,592,440 (GRCm39) I68T probably damaging Het
Pik3r4 T A 9: 105,563,349 (GRCm39) V1242D possibly damaging Het
Ppp6r2 G T 15: 89,162,929 (GRCm39) W517L probably damaging Het
Scrib A T 15: 75,933,616 (GRCm39) I703K probably benign Het
Serpina1b T C 12: 103,695,576 (GRCm39) S322G probably benign Het
Siglecg C A 7: 43,058,187 (GRCm39) Q25K probably benign Het
Slc12a3 G A 8: 95,092,447 (GRCm39) probably null Het
Slc6a13 G T 6: 121,302,116 (GRCm39) probably null Het
Stard13 A T 5: 150,986,309 (GRCm39) D282E probably damaging Het
Tpte A T 8: 22,845,489 (GRCm39) Y513F possibly damaging Het
Ubox5 T A 2: 130,442,579 (GRCm39) K36I possibly damaging Het
Other mutations in Dapp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01353:Dapp1 APN 3 137,667,241 (GRCm39) missense probably benign 0.12
IGL02422:Dapp1 APN 3 137,667,260 (GRCm39) missense probably benign 0.01
LCD18:Dapp1 UTSW 3 137,645,161 (GRCm39) intron probably benign
R0395:Dapp1 UTSW 3 137,641,398 (GRCm39) missense possibly damaging 0.46
R2356:Dapp1 UTSW 3 137,643,510 (GRCm39) missense possibly damaging 0.91
R4585:Dapp1 UTSW 3 137,644,932 (GRCm39) missense probably benign 0.05
R4586:Dapp1 UTSW 3 137,644,932 (GRCm39) missense probably benign 0.05
R4706:Dapp1 UTSW 3 137,638,928 (GRCm39) missense probably benign
R4707:Dapp1 UTSW 3 137,638,928 (GRCm39) missense probably benign
R5165:Dapp1 UTSW 3 137,644,976 (GRCm39) splice site probably null
R5199:Dapp1 UTSW 3 137,687,146 (GRCm39) missense probably benign 0.23
R5858:Dapp1 UTSW 3 137,667,292 (GRCm39) missense possibly damaging 0.82
R9174:Dapp1 UTSW 3 137,638,916 (GRCm39) missense probably benign
R9250:Dapp1 UTSW 3 137,638,919 (GRCm39) missense probably benign
X0064:Dapp1 UTSW 3 137,667,274 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07