Incidental Mutation 'IGL02422:Dapp1'
ID292735
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? Possibly non essential (E-score: 0.376) question?
Stock #IGL02422
Quality Score
Status
Chromosome3
Chromosomal Location137931007-137981545 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 137961499 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 101 (S101T)
Ref Sequence ENSEMBL: ENSMUSP00000029806 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029806] [ENSMUST00000136613]
Predicted Effect probably benign
Transcript: ENSMUST00000029806
AA Change: S101T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000029806
Gene: ENSMUSG00000028159
AA Change: S101T

DomainStartEndE-ValueType
SH2 33 115 1.1e-20 SMART
PH 165 261 6.64e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000136613
AA Change: S60T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000119634
Gene: ENSMUSG00000028159
AA Change: S60T

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019M22Rik T C 12: 96,047,047 noncoding transcript Het
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Aak1 A T 6: 86,982,616 T846S unknown Het
Adgrl1 A G 8: 83,937,486 D1149G probably damaging Het
AI661453 C T 17: 47,467,092 probably benign Het
Ap4b1 T C 3: 103,812,854 V139A possibly damaging Het
Arhgef16 G A 4: 154,287,065 R224* probably null Het
Ash1l T A 3: 89,069,079 probably null Het
Atm A T 9: 53,500,792 V988D probably damaging Het
C3 T C 17: 57,226,823 E47G probably damaging Het
Cdkn2aip G A 8: 47,711,499 S393L probably damaging Het
Cyp2c68 A C 19: 39,734,452 N217K probably damaging Het
Ddx25 T C 9: 35,551,364 I242V probably null Het
Dpy19l4 T C 4: 11,265,803 N715S possibly damaging Het
Dync1h1 A G 12: 110,640,210 E2511G possibly damaging Het
Fopnl T G 16: 14,300,206 D150A probably benign Het
Gm9839 T A 1: 32,519,862 probably benign Het
Grn A G 11: 102,436,258 probably benign Het
Haus5 T C 7: 30,660,146 T196A possibly damaging Het
Ik A G 18: 36,753,260 probably null Het
Inpp5d T G 1: 87,708,132 F473C probably damaging Het
Kif19a C A 11: 114,789,361 S841R probably damaging Het
Lipn G A 19: 34,068,663 C12Y probably benign Het
Ltbp4 G T 7: 27,319,672 P1074Q probably damaging Het
Mfap2 T C 4: 141,014,224 S65P probably benign Het
Mtbp T C 15: 55,563,043 F127S possibly damaging Het
Olfr1084 A G 2: 86,639,216 F164S probably damaging Het
Pappa2 T C 1: 158,936,933 D336G probably damaging Het
Plekhh2 A G 17: 84,563,809 probably benign Het
Plekhm3 A T 1: 64,921,866 C410* probably null Het
Ppm1f T A 16: 16,917,716 H265Q probably damaging Het
Pramef25 T A 4: 143,949,883 Y217F probably benign Het
Rasal3 T C 17: 32,398,973 T207A probably benign Het
Rnf17 T A 14: 56,482,135 N947K probably damaging Het
Rpl3l C A 17: 24,733,988 Y307* probably null Het
Sema4d A G 13: 51,703,088 S703P probably benign Het
Slc12a7 T C 13: 73,806,161 M857T probably benign Het
Slc34a3 T C 2: 25,232,263 D110G probably benign Het
Spata32 A T 11: 103,208,880 N266K probably benign Het
Spata9 A G 13: 75,993,074 I147V probably benign Het
Supt16 T C 14: 52,179,543 Y326C possibly damaging Het
Tpx2 T C 2: 152,873,144 I95T probably benign Het
Usp17ld T A 7: 103,250,760 M322L probably damaging Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Other mutations in Dapp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01353:Dapp1 APN 3 137961480 missense probably benign 0.12
IGL01947:Dapp1 APN 3 137935643 missense probably damaging 1.00
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 On2015-04-16