Incidental Mutation 'IGL01353:Dapp1'
ID75452
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dapp1
Ensembl Gene ENSMUSG00000028159
Gene Namedual adaptor for phosphotyrosine and 3-phosphoinositides 1
SynonymsBam32
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.090) question?
Stock #IGL01353
Quality Score
Status
Chromosome3
Chromosomal Location137931007-137981545 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 137961480 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 107 (K107R)
Ref Sequence ENSEMBL: ENSMUSP00000029806 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029806] [ENSMUST00000136613]
Predicted Effect probably benign
Transcript: ENSMUST00000029806
AA Change: K107R

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000029806
Gene: ENSMUSG00000028159
AA Change: K107R

DomainStartEndE-ValueType
SH2 33 115 1.1e-20 SMART
PH 165 261 6.64e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000136613
AA Change: K66R

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000119634
Gene: ENSMUSG00000028159
AA Change: K66R

DomainStartEndE-ValueType
PH 124 220 6.64e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154716
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
Abcc3 A T 11: 94,352,108 V1304E possibly damaging Het
Acr T C 15: 89,569,492 L78P probably damaging Het
Adamts12 T C 15: 11,292,005 probably benign Het
Adgrb2 T C 4: 130,012,300 S872P probably damaging Het
Adhfe1 T A 1: 9,566,863 N413K probably benign Het
Apoh T A 11: 108,397,385 C110S probably damaging Het
Arhgap11a A G 2: 113,833,524 F805L probably damaging Het
BC049730 G T 7: 24,714,237 S226I probably damaging Het
Bin3 C T 14: 70,134,826 L191F possibly damaging Het
Col3a1 A G 1: 45,333,638 probably benign Het
Dnah5 T C 15: 28,233,272 V259A probably benign Het
Dnah6 T C 6: 73,173,456 M775V probably benign Het
Dnah9 A G 11: 66,080,571 L1597P probably damaging Het
Elfn2 G A 15: 78,672,418 A643V possibly damaging Het
Epha6 T C 16: 60,424,895 T314A probably damaging Het
Fn1 C A 1: 71,586,939 W2237L probably damaging Het
Foxp4 T A 17: 47,888,153 D97V probably damaging Het
Kcnb2 C A 1: 15,710,824 T640K probably benign Het
Miga2 G A 2: 30,371,233 probably null Het
Nacad T A 11: 6,600,530 Q887L possibly damaging Het
Olfr1058 A T 2: 86,386,021 Y132* probably null Het
Olfr165 C T 16: 19,407,583 M145I probably benign Het
Olfr464 T C 11: 87,914,172 I245V probably benign Het
Olfr866 T C 9: 20,027,047 N297S probably damaging Het
Otub2 A T 12: 103,404,322 M288L probably benign Het
Otud4 A G 8: 79,665,021 S432G probably benign Het
Pcca G A 14: 122,582,617 V58I probably damaging Het
Pdpr T A 8: 111,121,278 probably null Het
Pinx1 C A 14: 63,866,115 Q48K probably benign Het
Pkd1l2 G T 8: 117,057,443 S698R probably benign Het
Psg29 A G 7: 17,205,013 R71G possibly damaging Het
Psmd3 T A 11: 98,690,600 V271E probably benign Het
Smarcc1 A G 9: 110,135,666 N97S probably benign Het
Sulf2 C T 2: 166,087,095 G319S probably damaging Het
Tmem67 C A 4: 12,079,895 C132F probably damaging Het
Ttll7 T C 3: 146,961,719 L780P probably damaging Het
Vmn1r223 A G 13: 23,249,256 T7A unknown Het
Vmn1r76 T G 7: 11,930,810 H159P probably damaging Het
Vnn1 G A 10: 23,900,840 C363Y probably damaging Het
Wdr64 T G 1: 175,731,585 L305V probably damaging Het
Zkscan4 T C 13: 21,484,348 L323P probably damaging Het
Zscan10 A T 17: 23,609,600 H295L probably damaging Het
Other mutations in Dapp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01947:Dapp1 APN 3 137935643 missense probably damaging 1.00
IGL02422:Dapp1 APN 3 137961499 missense probably benign 0.01
LCD18:Dapp1 UTSW 3 137939400 intron probably benign
R0395:Dapp1 UTSW 3 137935637 missense possibly damaging 0.46
R2356:Dapp1 UTSW 3 137937749 missense possibly damaging 0.91
R4585:Dapp1 UTSW 3 137939171 missense probably benign 0.05
R4586:Dapp1 UTSW 3 137939171 missense probably benign 0.05
R4706:Dapp1 UTSW 3 137933167 missense probably benign
R4707:Dapp1 UTSW 3 137933167 missense probably benign
R5165:Dapp1 UTSW 3 137939215 intron probably null
R5199:Dapp1 UTSW 3 137981385 missense probably benign 0.23
R5858:Dapp1 UTSW 3 137961531 missense possibly damaging 0.82
X0064:Dapp1 UTSW 3 137961513 missense probably damaging 1.00
Posted On2013-10-07