Incidental Mutation 'IGL00885:Daam1'
ID 28688
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Daam1
Ensembl Gene ENSMUSG00000034574
Gene Name dishevelled associated activator of morphogenesis 1
Synonyms 1700066F09Rik, 2310028E21Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00885
Quality Score
Chromosome 12
Chromosomal Location 71831078-71992333 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 71944091 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 160 (C160S)
Ref Sequence ENSEMBL: ENSMUSP00000152564 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085299] [ENSMUST00000221317] [ENSMUST00000223272]
AlphaFold Q8BPM0
Predicted Effect unknown
Transcript: ENSMUST00000085299
AA Change: C160S
SMART Domains Protein: ENSMUSP00000082406
Gene: ENSMUSG00000034574
AA Change: C160S

Drf_GBD 45 232 4.99e-67 SMART
Drf_FH3 235 433 1.92e-77 SMART
SCOP:d1eq1a_ 442 522 4e-3 SMART
Blast:Drf_FH3 459 519 1e-9 BLAST
SCOP:d1jvr__ 532 565 5e-3 SMART
FH2 600 1060 9.99e-110 SMART
Predicted Effect unknown
Transcript: ENSMUST00000221317
AA Change: C160S
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221971
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222327
Predicted Effect unknown
Transcript: ENSMUST00000223272
AA Change: C160S
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cell motility, adhesion, cytokinesis, and other functions of the cell cortex are mediated by reorganization of the actin cytoskeleton and several formin homology (FH) proteins have been associated with these processes. The protein encoded by this gene contains two FH domains and belongs to a novel FH protein subfamily implicated in cell polarity. A key regulator of cytoskeletal architecture, the small GTPase Rho, is activated during development by Wnt/Fz signaling to control cell polarity and movement. The protein encoded by this gene is thought to function as a scaffolding protein for the Wnt-induced assembly of a disheveled (Dvl)-Rho complex. This protein also promotes the nucleation and elongation of new actin filaments and regulates cell growth through the stabilization of microtubules. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2012]
PHENOTYPE: Homozygotes for a gene trap allele show reduced fetal size, partial embryonic and neonatal lethality, altered cytoskeletal structure, cardiac defects including ventricular noncompaction, double outlet right ventricles and ventricular septal defects, and impaired cell adhesion and wound healing. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf2 A T 17: 42,714,315 (GRCm38) probably benign Het
Adora2a T G 10: 75,333,451 (GRCm38) F250V probably damaging Het
Atp8b5 T C 4: 43,355,567 (GRCm38) S516P probably damaging Het
Btbd16 A G 7: 130,788,822 (GRCm38) I150V probably damaging Het
Capn13 A T 17: 73,339,425 (GRCm38) I331N possibly damaging Het
Capzb A G 4: 139,287,050 (GRCm38) S233G probably benign Het
Clasp2 A G 9: 113,911,416 (GRCm38) R1171G probably damaging Het
Col16a1 T G 4: 130,096,910 (GRCm38) I1419S probably damaging Het
Coro7 T A 16: 4,635,026 (GRCm38) Y286F probably benign Het
Crygd C T 1: 65,062,091 (GRCm38) R115Q probably benign Het
Cyp11b2 T C 15: 74,853,515 (GRCm38) T252A probably benign Het
Ephx4 T C 5: 107,406,125 (GRCm38) probably benign Het
Fbxo47 A T 11: 97,878,120 (GRCm38) D63E probably benign Het
Fgf3 A T 7: 144,840,784 (GRCm38) probably benign Het
Fstl4 C T 11: 53,148,982 (GRCm38) T331I possibly damaging Het
Gm597 T C 1: 28,776,845 (GRCm38) E702G unknown Het
Gpr158 T C 2: 21,649,021 (GRCm38) F467S probably damaging Het
Igfbpl1 C T 4: 45,826,478 (GRCm38) V106I probably damaging Het
Ikzf2 T C 1: 69,539,322 (GRCm38) T271A possibly damaging Het
Kat14 T A 2: 144,394,255 (GRCm38) N302K probably benign Het
Kmt2c G T 5: 25,409,171 (GRCm38) Q184K possibly damaging Het
Moxd2 A G 6: 40,884,179 (GRCm38) probably benign Het
Nbeal2 C A 9: 110,638,661 (GRCm38) E479D probably damaging Het
Neo1 A G 9: 58,888,463 (GRCm38) L1231P probably damaging Het
Nfatc3 C T 8: 106,099,177 (GRCm38) P620L probably damaging Het
Nol9 T C 4: 152,041,600 (GRCm38) F253L probably damaging Het
Nutm2 T A 13: 50,474,860 (GRCm38) S653R probably benign Het
Olfr138 A C 17: 38,274,899 (GRCm38) I43L probably benign Het
Olfr1504 A T 19: 13,888,168 (GRCm38) M14K probably benign Het
Plcg1 A G 2: 160,758,083 (GRCm38) D921G probably benign Het
Plpp4 A T 7: 129,321,533 (GRCm38) I101F probably damaging Het
Psg17 A T 7: 18,820,166 (GRCm38) L53Q probably damaging Het
Ptpn4 A T 1: 119,802,363 (GRCm38) I20N possibly damaging Het
R3hdm1 A T 1: 128,236,438 (GRCm38) I1030L probably damaging Het
Rpl7 A C 1: 16,102,583 (GRCm38) S171A possibly damaging Het
Snx25 G A 8: 46,038,476 (GRCm38) T859M probably damaging Het
Tmem94 A G 11: 115,795,328 (GRCm38) M990V probably damaging Het
Tnnt2 A G 1: 135,846,764 (GRCm38) probably benign Het
Ttn T C 2: 76,709,685 (GRCm38) H34319R possibly damaging Het
Vmn1r72 A G 7: 11,670,497 (GRCm38) V8A probably benign Het
Zbtb41 A G 1: 139,430,324 (GRCm38) T457A probably benign Het
Other mutations in Daam1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Daam1 APN 12 71,942,219 (GRCm38) missense unknown
IGL00323:Daam1 APN 12 71,958,743 (GRCm38) splice site probably benign
IGL01768:Daam1 APN 12 71,989,885 (GRCm38) missense probably benign 0.39
IGL02189:Daam1 APN 12 71,946,285 (GRCm38) missense unknown
IGL02237:Daam1 APN 12 71,982,721 (GRCm38) missense probably benign 0.01
IGL02486:Daam1 APN 12 71,947,145 (GRCm38) splice site probably benign
IGL02561:Daam1 APN 12 71,946,516 (GRCm38) missense unknown
IGL02699:Daam1 APN 12 71,988,943 (GRCm38) missense probably damaging 1.00
IGL02977:Daam1 APN 12 71,944,172 (GRCm38) missense unknown
R0390:Daam1 UTSW 12 71,975,304 (GRCm38) splice site probably benign
R0492:Daam1 UTSW 12 71,944,380 (GRCm38) missense unknown
R0780:Daam1 UTSW 12 71,947,050 (GRCm38) missense unknown
R0973:Daam1 UTSW 12 71,915,784 (GRCm38) missense unknown
R0973:Daam1 UTSW 12 71,915,784 (GRCm38) missense unknown
R0974:Daam1 UTSW 12 71,915,784 (GRCm38) missense unknown
R1264:Daam1 UTSW 12 71,975,311 (GRCm38) splice site probably benign
R1462:Daam1 UTSW 12 71,944,142 (GRCm38) missense unknown
R1462:Daam1 UTSW 12 71,944,142 (GRCm38) missense unknown
R1510:Daam1 UTSW 12 71,977,726 (GRCm38) missense probably damaging 1.00
R1535:Daam1 UTSW 12 71,951,918 (GRCm38) missense unknown
R1688:Daam1 UTSW 12 71,947,046 (GRCm38) missense unknown
R1713:Daam1 UTSW 12 71,895,882 (GRCm38) missense unknown
R1957:Daam1 UTSW 12 71,982,755 (GRCm38) critical splice donor site probably null
R1974:Daam1 UTSW 12 71,988,929 (GRCm38) missense probably damaging 0.99
R2217:Daam1 UTSW 12 71,989,827 (GRCm38) missense probably damaging 1.00
R2507:Daam1 UTSW 12 71,975,223 (GRCm38) missense probably damaging 1.00
R2508:Daam1 UTSW 12 71,975,223 (GRCm38) missense probably damaging 1.00
R3161:Daam1 UTSW 12 71,947,098 (GRCm38) missense unknown
R3748:Daam1 UTSW 12 71,971,166 (GRCm38) missense probably damaging 1.00
R3749:Daam1 UTSW 12 71,971,166 (GRCm38) missense probably damaging 1.00
R4635:Daam1 UTSW 12 71,958,744 (GRCm38) splice site probably null
R4862:Daam1 UTSW 12 71,942,207 (GRCm38) missense unknown
R5033:Daam1 UTSW 12 71,946,520 (GRCm38) missense unknown
R5180:Daam1 UTSW 12 71,947,125 (GRCm38) missense unknown
R5202:Daam1 UTSW 12 71,944,274 (GRCm38) missense unknown
R5254:Daam1 UTSW 12 71,946,576 (GRCm38) missense unknown
R5358:Daam1 UTSW 12 71,952,459 (GRCm38) nonsense probably null
R5413:Daam1 UTSW 12 71,946,292 (GRCm38) missense unknown
R5733:Daam1 UTSW 12 71,945,498 (GRCm38) missense unknown
R5752:Daam1 UTSW 12 71,946,546 (GRCm38) missense unknown
R5891:Daam1 UTSW 12 71,944,149 (GRCm38) missense unknown
R6111:Daam1 UTSW 12 71,942,264 (GRCm38) missense unknown
R6182:Daam1 UTSW 12 71,959,887 (GRCm38) nonsense probably null
R6251:Daam1 UTSW 12 71,988,949 (GRCm38) missense probably damaging 1.00
R6252:Daam1 UTSW 12 71,988,949 (GRCm38) missense probably damaging 1.00
R6291:Daam1 UTSW 12 71,946,251 (GRCm38) missense unknown
R6379:Daam1 UTSW 12 71,951,938 (GRCm38) missense unknown
R6776:Daam1 UTSW 12 71,989,808 (GRCm38) missense possibly damaging 0.96
R7167:Daam1 UTSW 12 71,988,904 (GRCm38) missense probably damaging 0.99
R7223:Daam1 UTSW 12 71,988,943 (GRCm38) missense probably damaging 1.00
R7340:Daam1 UTSW 12 71,988,939 (GRCm38) missense probably benign 0.28
R7467:Daam1 UTSW 12 71,985,806 (GRCm38) nonsense probably null
R7709:Daam1 UTSW 12 71,977,649 (GRCm38) missense probably benign 0.10
R7715:Daam1 UTSW 12 71,988,901 (GRCm38) missense probably benign 0.15
R8157:Daam1 UTSW 12 71,952,489 (GRCm38) missense probably damaging 1.00
R8187:Daam1 UTSW 12 71,895,828 (GRCm38) missense unknown
R8297:Daam1 UTSW 12 71,951,915 (GRCm38) missense unknown
R8963:Daam1 UTSW 12 71,945,244 (GRCm38) missense unknown
R9283:Daam1 UTSW 12 71,988,922 (GRCm38) missense probably damaging 1.00
R9402:Daam1 UTSW 12 71,959,830 (GRCm38) missense probably benign 0.09
R9563:Daam1 UTSW 12 71,945,477 (GRCm38) missense unknown
R9696:Daam1 UTSW 12 71,944,373 (GRCm38) missense unknown
R9762:Daam1 UTSW 12 71,944,081 (GRCm38) missense unknown
R9803:Daam1 UTSW 12 71,944,148 (GRCm38) missense unknown
X0019:Daam1 UTSW 12 71,985,692 (GRCm38) missense probably damaging 1.00
Posted On 2013-04-17