Incidental Mutation 'IGL03370:Daam2'
ID420262
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Daam2
Ensembl Gene ENSMUSG00000040260
Gene Namedishevelled associated activator of morphogenesis 2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03370
Quality Score
Status
Chromosome17
Chromosomal Location49456022-49564343 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 49486501 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 329 (D329E)
Ref Sequence ENSEMBL: ENSMUSP00000153095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057610] [ENSMUST00000224595]
Predicted Effect probably benign
Transcript: ENSMUST00000057610
AA Change: D329E

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000052085
Gene: ENSMUSG00000040260
AA Change: D329E

DomainStartEndE-ValueType
Drf_GBD 40 228 4.89e-61 SMART
Drf_FH3 231 429 1.19e-73 SMART
Blast:FH2 476 513 4e-10 BLAST
low complexity region 514 534 N/A INTRINSIC
low complexity region 539 576 N/A INTRINSIC
FH2 595 1085 7.36e-99 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000224595
AA Change: D329E

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224954
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous KO in combination with homozygous Daam1 conditional KO increases the severity of the heart phenotype (abnormal ventricular morphology and pressure) of the Daam1 single KO. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl7b A G 4: 56,741,173 Y62H probably damaging Het
Cfap52 A G 11: 67,939,055 I296T probably damaging Het
Col14a1 A G 15: 55,488,541 probably null Het
Defb26 A G 2: 152,507,982 V126A probably benign Het
Fasn A T 11: 120,812,795 I1535N possibly damaging Het
Fbxw15 A T 9: 109,555,151 Y431N probably benign Het
Fbxw26 T G 9: 109,746,019 I13L probably damaging Het
Fggy A T 4: 95,822,064 H300L probably damaging Het
Fndc3c1 G A X: 106,420,701 T1277I probably benign Het
Gigyf1 G T 5: 137,525,690 V1041L possibly damaging Het
Kif26b G A 1: 178,915,381 R567H probably benign Het
Kpna6 G A 4: 129,655,521 T156M probably damaging Het
Lrrc37a C T 11: 103,497,673 E2309K unknown Het
Lyn T C 4: 3,780,931 Y357H possibly damaging Het
Mki67 A G 7: 135,695,490 V2605A probably benign Het
Mtmr3 T C 11: 4,487,385 D1023G probably damaging Het
Muc5b G T 7: 141,864,777 R3820L probably benign Het
Mus81 A G 19: 5,484,963 probably benign Het
Nup188 A G 2: 30,340,641 Y1397C possibly damaging Het
Pgd A T 4: 149,165,228 V29D probably damaging Het
Plch2 T C 4: 154,986,914 S244G probably benign Het
Rapgef5 C A 12: 117,730,559 T372K probably damaging Het
Rb1 A G 14: 73,282,866 probably null Het
Ryr3 A T 2: 112,756,599 V2680E possibly damaging Het
Sgsm3 A C 15: 81,011,654 probably null Het
Slc38a1 C T 15: 96,579,347 V362I possibly damaging Het
Sun1 T A 5: 139,231,131 D308E probably damaging Het
Tns1 C T 1: 73,985,894 V387M probably damaging Het
Ttn C A 2: 76,751,739 G22937C probably damaging Het
Ubr1 C A 2: 120,895,160 A1258S probably benign Het
Vmn2r74 A G 7: 85,958,057 F153L probably benign Het
Other mutations in Daam2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02150:Daam2 APN 17 49490304 missense possibly damaging 0.82
IGL02373:Daam2 APN 17 49473380 missense probably damaging 1.00
IGL02626:Daam2 APN 17 49490254 missense possibly damaging 0.46
IGL02793:Daam2 APN 17 49464028 missense probably damaging 1.00
IGL02861:Daam2 APN 17 49469427 missense probably damaging 1.00
IGL02875:Daam2 APN 17 49464028 missense probably damaging 1.00
R0145:Daam2 UTSW 17 49480778 missense probably benign
R0310:Daam2 UTSW 17 49463924 critical splice donor site probably null
R0362:Daam2 UTSW 17 49480785 splice site probably null
R0423:Daam2 UTSW 17 49469421 nonsense probably null
R0883:Daam2 UTSW 17 49498883 utr 5 prime probably benign
R0928:Daam2 UTSW 17 49488227 missense probably benign 0.30
R1444:Daam2 UTSW 17 49480751 missense possibly damaging 0.89
R1559:Daam2 UTSW 17 49496120 splice site probably benign
R1733:Daam2 UTSW 17 49490203 missense possibly damaging 0.60
R1919:Daam2 UTSW 17 49485457 missense probably benign 0.00
R1930:Daam2 UTSW 17 49462213 splice site probably null
R1968:Daam2 UTSW 17 49483060 missense probably damaging 1.00
R2520:Daam2 UTSW 17 49480757 nonsense probably null
R3004:Daam2 UTSW 17 49460654 missense probably damaging 0.98
R3726:Daam2 UTSW 17 49469738 missense probably damaging 1.00
R3854:Daam2 UTSW 17 49458596 missense probably benign
R4833:Daam2 UTSW 17 49490145 missense possibly damaging 0.91
R4878:Daam2 UTSW 17 49460710 missense probably damaging 1.00
R5015:Daam2 UTSW 17 49476522 missense probably damaging 1.00
R5106:Daam2 UTSW 17 49476461 missense probably damaging 1.00
R5184:Daam2 UTSW 17 49494391 missense possibly damaging 0.50
R5419:Daam2 UTSW 17 49480754 missense possibly damaging 0.95
R5529:Daam2 UTSW 17 49459057 missense probably benign
R5974:Daam2 UTSW 17 49464473 missense probably damaging 1.00
R5979:Daam2 UTSW 17 49459204 missense possibly damaging 0.47
R6032:Daam2 UTSW 17 49486497 missense probably damaging 1.00
R6032:Daam2 UTSW 17 49486497 missense probably damaging 1.00
R6050:Daam2 UTSW 17 49486502 missense possibly damaging 0.78
R6180:Daam2 UTSW 17 49469666 missense probably damaging 0.99
R6225:Daam2 UTSW 17 49494439 missense probably damaging 0.98
R6385:Daam2 UTSW 17 49463936 missense probably damaging 1.00
R6426:Daam2 UTSW 17 49469376 missense probably damaging 1.00
R6427:Daam2 UTSW 17 49469376 missense probably damaging 1.00
R6428:Daam2 UTSW 17 49469376 missense probably damaging 1.00
R6539:Daam2 UTSW 17 49469711 missense probably damaging 1.00
R7090:Daam2 UTSW 17 49482945 missense probably damaging 0.99
R7108:Daam2 UTSW 17 49460674 missense probably damaging 1.00
R7487:Daam2 UTSW 17 49486482 missense probably benign 0.03
R7599:Daam2 UTSW 17 49480727 nonsense probably null
R7763:Daam2 UTSW 17 49490022 missense probably benign 0.04
R8039:Daam2 UTSW 17 49464538 missense probably damaging 1.00
V1662:Daam2 UTSW 17 49464601 missense possibly damaging 0.85
Z1177:Daam2 UTSW 17 49464620 missense probably damaging 1.00
Z1177:Daam2 UTSW 17 49489016 missense probably damaging 1.00
Posted On2016-08-02