Incidental Mutation 'IGL02486:Daam1'
ID 295448
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
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL02486
Quality Score
Status
Chromosome 12
Chromosomal Location 71831078-71992333 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 71947145 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152564 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085299] [ENSMUST00000221317] [ENSMUST00000223272]
AlphaFold Q8BPM0
Predicted Effect probably benign
Transcript: ENSMUST00000085299
SMART Domains Protein: ENSMUSP00000082406
Gene: ENSMUSG00000034574

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000221317
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221971
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222327
Predicted Effect probably benign
Transcript: ENSMUST00000223272
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010106E10Rik T A X: 112,515,258 N147K probably benign Het
9330182L06Rik T A 5: 9,422,323 V340E probably benign Het
BC052040 T C 2: 115,777,006 V280A possibly damaging Het
Bcas1 T C 2: 170,406,398 D201G probably damaging Het
Bmp1 T A 14: 70,504,776 D333V possibly damaging Het
Btbd11 C A 10: 85,640,555 P900H probably damaging Het
Capn6 T C X: 143,804,677 E535G probably benign Het
Chac2 T C 11: 30,977,625 D86G probably damaging Het
Col14a1 T A 15: 55,388,696 probably benign Het
Eno4 A G 19: 58,945,665 probably null Het
Fat1 T C 8: 45,025,072 V2385A probably benign Het
Ffar4 T C 19: 38,113,760 I281T possibly damaging Het
Flcn C T 11: 59,801,043 W260* probably null Het
Fry T G 5: 150,491,177 S496A probably damaging Het
Gk T A X: 85,715,668 I373F possibly damaging Het
Gpr108 T C 17: 57,235,977 N528S probably damaging Het
Hey1 T A 3: 8,666,519 R50W probably damaging Het
Hgf A G 5: 16,602,289 Y393C probably damaging Het
Hmcn2 A T 2: 31,420,095 E3260D probably damaging Het
Ift172 A G 5: 31,257,583 I1365T probably damaging Het
Letmd1 A G 15: 100,475,111 R31G probably damaging Het
Mak16 T C 8: 31,160,586 probably benign Het
Mapkapk3 C T 9: 107,289,268 G26D probably damaging Het
Mphosph8 T C 14: 56,688,387 V603A possibly damaging Het
Myom1 G T 17: 71,099,944 probably benign Het
Neb T A 2: 52,282,603 N1564I possibly damaging Het
Nox1 C T X: 134,092,811 G433D probably damaging Het
Olfr133 T A 17: 38,149,221 L211Q probably damaging Het
Olfr554 A T 7: 102,640,420 H58L probably damaging Het
Olfr641 T C 7: 104,040,410 S205P probably damaging Het
Olfr745 T C 14: 50,642,632 F111S probably damaging Het
Rcc2 T C 4: 140,710,362 W135R probably damaging Het
Rgl2 A G 17: 33,935,980 I205V probably damaging Het
Robo4 G A 9: 37,408,374 G640E probably damaging Het
Slc26a5 A G 5: 21,846,325 F64L probably damaging Het
Slc27a2 A G 2: 126,553,350 T66A probably benign Het
St18 T C 1: 6,820,083 S580P probably damaging Het
Syt15 G A 14: 34,222,976 R160K probably damaging Het
Tmem63b A G 17: 45,673,983 S200P probably damaging Het
Tnks T A 8: 34,851,198 N841I probably damaging Het
Tnr G A 1: 159,852,094 probably null Het
Unc13d A G 11: 116,069,806 probably benign Het
Usp4 T C 9: 108,351,029 L74P probably damaging Het
Other mutations in Daam1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Daam1 APN 12 71942219 missense unknown
IGL00323:Daam1 APN 12 71958743 splice site probably benign
IGL00885:Daam1 APN 12 71944091 missense unknown
IGL01768:Daam1 APN 12 71989885 missense probably benign 0.39
IGL02189:Daam1 APN 12 71946285 missense unknown
IGL02237:Daam1 APN 12 71982721 missense probably benign 0.01
IGL02561:Daam1 APN 12 71946516 missense unknown
IGL02699:Daam1 APN 12 71988943 missense probably damaging 1.00
IGL02977:Daam1 APN 12 71944172 missense unknown
R0390:Daam1 UTSW 12 71975304 splice site probably benign
R0492:Daam1 UTSW 12 71944380 missense unknown
R0780:Daam1 UTSW 12 71947050 missense unknown
R0973:Daam1 UTSW 12 71915784 missense unknown
R0973:Daam1 UTSW 12 71915784 missense unknown
R0974:Daam1 UTSW 12 71915784 missense unknown
R1264:Daam1 UTSW 12 71975311 splice site probably benign
R1462:Daam1 UTSW 12 71944142 missense unknown
R1462:Daam1 UTSW 12 71944142 missense unknown
R1510:Daam1 UTSW 12 71977726 missense probably damaging 1.00
R1535:Daam1 UTSW 12 71951918 missense unknown
R1688:Daam1 UTSW 12 71947046 missense unknown
R1713:Daam1 UTSW 12 71895882 missense unknown
R1957:Daam1 UTSW 12 71982755 critical splice donor site probably null
R1974:Daam1 UTSW 12 71988929 missense probably damaging 0.99
R2217:Daam1 UTSW 12 71989827 missense probably damaging 1.00
R2507:Daam1 UTSW 12 71975223 missense probably damaging 1.00
R2508:Daam1 UTSW 12 71975223 missense probably damaging 1.00
R3161:Daam1 UTSW 12 71947098 missense unknown
R3748:Daam1 UTSW 12 71971166 missense probably damaging 1.00
R3749:Daam1 UTSW 12 71971166 missense probably damaging 1.00
R4635:Daam1 UTSW 12 71958744 splice site probably null
R4862:Daam1 UTSW 12 71942207 missense unknown
R5033:Daam1 UTSW 12 71946520 missense unknown
R5180:Daam1 UTSW 12 71947125 missense unknown
R5202:Daam1 UTSW 12 71944274 missense unknown
R5254:Daam1 UTSW 12 71946576 missense unknown
R5358:Daam1 UTSW 12 71952459 nonsense probably null
R5413:Daam1 UTSW 12 71946292 missense unknown
R5733:Daam1 UTSW 12 71945498 missense unknown
R5752:Daam1 UTSW 12 71946546 missense unknown
R5891:Daam1 UTSW 12 71944149 missense unknown
R6111:Daam1 UTSW 12 71942264 missense unknown
R6182:Daam1 UTSW 12 71959887 nonsense probably null
R6251:Daam1 UTSW 12 71988949 missense probably damaging 1.00
R6252:Daam1 UTSW 12 71988949 missense probably damaging 1.00
R6291:Daam1 UTSW 12 71946251 missense unknown
R6379:Daam1 UTSW 12 71951938 missense unknown
R6776:Daam1 UTSW 12 71989808 missense possibly damaging 0.96
R7167:Daam1 UTSW 12 71988904 missense probably damaging 0.99
R7223:Daam1 UTSW 12 71988943 missense probably damaging 1.00
R7340:Daam1 UTSW 12 71988939 missense probably benign 0.28
R7467:Daam1 UTSW 12 71985806 nonsense probably null
R7709:Daam1 UTSW 12 71977649 missense probably benign 0.10
R7715:Daam1 UTSW 12 71988901 missense probably benign 0.15
R8157:Daam1 UTSW 12 71952489 missense probably damaging 1.00
R8187:Daam1 UTSW 12 71895828 missense unknown
R8297:Daam1 UTSW 12 71951915 missense unknown
R8963:Daam1 UTSW 12 71945244 missense unknown
R9283:Daam1 UTSW 12 71988922 missense probably damaging 1.00
R9402:Daam1 UTSW 12 71959830 missense probably benign 0.09
R9563:Daam1 UTSW 12 71945477 missense unknown
R9696:Daam1 UTSW 12 71944373 missense unknown
R9762:Daam1 UTSW 12 71944081 missense unknown
R9803:Daam1 UTSW 12 71944148 missense unknown
X0019:Daam1 UTSW 12 71985692 missense probably damaging 1.00
Posted On 2015-04-16