Incidental Mutation 'R1535:Daam1'
ID 166909
Institutional Source Beutler Lab
Gene Symbol Daam1
Ensembl Gene ENSMUSG00000034574
Gene Name dishevelled associated activator of morphogenesis 1
Synonyms 1700066F09Rik, 2310028E21Rik
MMRRC Submission 039574-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1535 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 71831078-71992333 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71951918 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 549 (L549P)
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: L549P
SMART Domains Protein: ENSMUSP00000082406
Gene: ENSMUSG00000034574
AA Change: L549P

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 unknown
Transcript: ENSMUST00000221317
AA Change: L549P
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221971
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222327
Predicted Effect unknown
Transcript: ENSMUST00000223272
AA Change: L549P
Meta Mutation Damage Score 0.0590 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.2%
Validation Efficiency 100% (75/75)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110032A03Rik C T 9: 50,764,007 (GRCm38) R40Q probably damaging Het
3110009E18Rik T C 1: 120,171,473 (GRCm38) S99P possibly damaging Het
4932431P20Rik C T 7: 29,529,579 (GRCm38) noncoding transcript Het
Abca16 T A 7: 120,540,705 (GRCm38) I1530N probably benign Het
Abcc9 T G 6: 142,664,635 (GRCm38) Q601P probably damaging Het
Acap3 A G 4: 155,896,174 (GRCm38) probably benign Het
Adamts16 A T 13: 70,791,794 (GRCm38) probably null Het
Alpk2 G C 18: 65,350,204 (GRCm38) S244R probably benign Het
Atp8b1 C T 18: 64,545,264 (GRCm38) V854M probably damaging Het
Bend5 C A 4: 111,459,763 (GRCm38) D374E probably benign Het
Catsperg2 T C 7: 29,698,246 (GRCm38) D1014G possibly damaging Het
Ccer2 G T 7: 28,757,397 (GRCm38) G189* probably null Het
Ces2h A G 8: 105,014,486 (GRCm38) T37A probably benign Het
Cmah T C 13: 24,439,220 (GRCm38) F213L probably damaging Het
Cntn2 T C 1: 132,525,384 (GRCm38) E390G probably benign Het
Coq7 C T 7: 118,529,674 (GRCm38) R46Q possibly damaging Het
Cpb1 T A 3: 20,266,287 (GRCm38) D136V probably benign Het
Cxcr2 T C 1: 74,159,058 (GRCm38) L237P probably damaging Het
Diaph1 A G 18: 37,896,093 (GRCm38) probably null Het
Dis3 G T 14: 99,079,426 (GRCm38) Q825K probably damaging Het
Dnah11 C T 12: 118,018,730 (GRCm38) R2568Q probably damaging Het
Dnah12 A T 14: 26,816,322 (GRCm38) R2312S possibly damaging Het
Dock9 C T 14: 121,546,064 (GRCm38) E2041K probably damaging Het
Doxl2 T C 6: 48,975,464 (GRCm38) F108L probably damaging Het
Eci1 A G 17: 24,439,090 (GRCm38) E282G probably benign Het
Egf T A 3: 129,690,778 (GRCm38) T464S probably benign Het
Eif4g3 C T 4: 138,097,302 (GRCm38) P97S probably damaging Het
Emsy A G 7: 98,593,737 (GRCm38) V1065A possibly damaging Het
Ep400 G T 5: 110,708,166 (GRCm38) probably benign Het
Fam13a A C 6: 58,939,347 (GRCm38) I607S probably damaging Het
Fam241b A G 10: 62,108,949 (GRCm38) S113P probably damaging Het
Fbxl21 A T 13: 56,523,527 (GRCm38) M1L probably benign Het
Fnip2 C A 3: 79,481,765 (GRCm38) C553F probably damaging Het
Frmd3 G T 4: 74,013,758 (GRCm38) probably benign Het
Gm597 T C 1: 28,777,424 (GRCm38) E509G probably damaging Het
Gm9745 A T 13: 8,940,644 (GRCm38) probably benign Het
Grm4 G A 17: 27,434,801 (GRCm38) S470L probably benign Het
Gucy2e T A 11: 69,226,244 (GRCm38) I784F probably damaging Het
H1fx T C 6: 87,981,148 (GRCm38) Y70C probably damaging Het
Hmcn2 A T 2: 31,420,407 (GRCm38) T3338S possibly damaging Het
Idh1 C T 1: 65,168,538 (GRCm38) G161R probably damaging Het
Idi1 T C 13: 8,886,909 (GRCm38) probably benign Het
Kcnq2 C T 2: 181,134,825 (GRCm38) G90S probably damaging Het
Klhl29 A G 12: 5,084,486 (GRCm38) Y642H probably damaging Het
Lmtk3 T A 7: 45,794,570 (GRCm38) probably benign Het
Macf1 A T 4: 123,440,693 (GRCm38) F4420I probably benign Het
Me1 A G 9: 86,587,043 (GRCm38) S470P probably damaging Het
Mfsd2b A G 12: 4,870,605 (GRCm38) S71P probably damaging Het
Mfsd3 T C 15: 76,702,779 (GRCm38) L273P probably damaging Het
Mical1 A G 10: 41,485,211 (GRCm38) K757R possibly damaging Het
Myh9 A T 15: 77,777,813 (GRCm38) V782D probably damaging Het
Nab2 C G 10: 127,665,047 (GRCm38) E59Q probably damaging Het
Nfyc A T 4: 120,761,724 (GRCm38) N244K probably damaging Het
Nupr1l A G 5: 129,908,831 (GRCm38) I80M probably damaging Het
Olfr1229 T C 2: 89,283,057 (GRCm38) I46M probably benign Het
Olfr583 A G 7: 103,051,369 (GRCm38) T24A probably benign Het
Olfr76 A G 19: 12,120,332 (GRCm38) C115R probably damaging Het
Pkn3 A G 2: 30,087,053 (GRCm38) T602A probably benign Het
Prrc2b T A 2: 32,204,289 (GRCm38) V561D probably benign Het
Psd2 T A 18: 36,005,790 (GRCm38) V489E probably benign Het
Rasal2 T C 1: 157,230,059 (GRCm38) T181A probably benign Het
Serpinb13 T C 1: 106,982,156 (GRCm38) M1T probably null Het
Sgsm1 A T 5: 113,263,269 (GRCm38) S864T possibly damaging Het
Slc5a10 C A 11: 61,673,941 (GRCm38) G404V possibly damaging Het
Slc6a1 G T 6: 114,307,770 (GRCm38) G263V probably damaging Het
Son A G 16: 91,659,734 (GRCm38) K1790E probably damaging Het
Syde2 A G 3: 146,002,421 (GRCm38) probably benign Het
Tmem126a T C 7: 90,452,818 (GRCm38) I58V probably benign Het
Vmn2r8 T C 5: 108,802,174 (GRCm38) Y269C probably damaging Het
Yeats2 T A 16: 20,189,365 (GRCm38) S416T probably damaging Het
Zfp40 A T 17: 23,175,869 (GRCm38) H513Q probably damaging 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
IGL00885:Daam1 APN 12 71,944,091 (GRCm38) missense unknown
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
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
Predicted Primers PCR Primer
(F):5'- GGACAGGCCCTAATGTGTCCAAAG -3'
(R):5'- ATGGTCAAGTTACCCAGCAGCAG -3'

Sequencing Primer
(F):5'- ATGTCCTCAAAAATGTGGGTGC -3'
(R):5'- TGGGAACAAATGGCTTACCTC -3'
Posted On 2014-04-13