Incidental Mutation 'R5358:Daam1'
ID 424197
Institutional Source Beutler Lab
Gene Symbol Daam1
Ensembl Gene ENSMUSG00000034574
Gene Name dishevelled associated activator of morphogenesis 1
Synonyms 1700066F09Rik, 2310028E21Rik
MMRRC Submission 042937-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5358 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 71877852-72039107 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 71999233 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 623 (L623*)
Ref Sequence ENSEMBL: ENSMUSP00000152564 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085299] [ENSMUST00000221317] [ENSMUST00000223272]
AlphaFold Q8BPM0
Predicted Effect probably null
Transcript: ENSMUST00000085299
AA Change: L623*
SMART Domains Protein: ENSMUSP00000082406
Gene: ENSMUSG00000034574
AA Change: L623*

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 null
Transcript: ENSMUST00000221317
AA Change: L623*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221971
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222327
Predicted Effect probably null
Transcript: ENSMUST00000223272
AA Change: L623*
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,849,165 (GRCm39) V1842A probably damaging Het
Abi3 A T 11: 95,732,934 (GRCm39) F13L probably benign Het
Adgre4 A G 17: 56,125,758 (GRCm39) K538R probably benign Het
Bcas3 C T 11: 85,342,581 (GRCm39) H191Y probably benign Het
Bicdl2 A G 17: 23,886,538 (GRCm39) T376A probably benign Het
Ceacam18 C A 7: 43,286,497 (GRCm39) N123K possibly damaging Het
Celsr3 C T 9: 108,709,224 (GRCm39) R1357C possibly damaging Het
Chek2 T C 5: 110,989,148 (GRCm39) probably benign Het
Chmp7 A G 14: 69,958,684 (GRCm39) V210A probably benign Het
Chrm2 A G 6: 36,500,290 (GRCm39) K49R probably damaging Het
Ciao2b T C 8: 105,368,282 (GRCm39) N14S probably damaging Het
Ddx31 T A 2: 28,753,782 (GRCm39) C448S probably damaging Het
Dnah7a A G 1: 53,586,331 (GRCm39) S1507P probably damaging Het
Dnah8 C A 17: 30,965,928 (GRCm39) T2420K probably damaging Het
Dyrk3 C T 1: 131,057,432 (GRCm39) R247H probably damaging Het
Exoc4 A G 6: 33,242,934 (GRCm39) E49G probably damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Foxj3 A G 4: 119,476,596 (GRCm39) E258G probably damaging Het
Gata4 C T 14: 63,478,075 (GRCm39) A175T probably benign Het
Helz2 C T 2: 180,877,321 (GRCm39) E1106K probably damaging Het
Hip1 G T 5: 135,465,252 (GRCm39) S385R probably benign Het
Igsf9 C T 1: 172,312,078 (GRCm39) T8I probably benign Het
Insyn2b G A 11: 34,352,788 (GRCm39) E277K probably damaging Het
Katnal2 A G 18: 77,105,190 (GRCm39) Y86H possibly damaging Het
Kcnh6 A T 11: 105,918,417 (GRCm39) I756F possibly damaging Het
Kdm5b C T 1: 134,535,432 (GRCm39) R570* probably null Het
Kif16b T A 2: 142,582,889 (GRCm39) R545S probably damaging Het
Kif21b T A 1: 136,100,030 (GRCm39) I1528N possibly damaging Het
Kmt2a T C 9: 44,730,571 (GRCm39) probably benign Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Melk C T 4: 44,363,730 (GRCm39) T592M probably damaging Het
Mknk2 T C 10: 80,507,597 (GRCm39) T60A probably benign Het
Ncoa6 T C 2: 155,248,907 (GRCm39) K1466E probably damaging Het
Ntsr2 A C 12: 16,704,083 (GRCm39) T109P probably damaging Het
Nup214 C A 2: 31,907,158 (GRCm39) S995Y unknown Het
Or2a5 A T 6: 42,873,454 (GRCm39) Q23L probably benign Het
Pclo T A 5: 14,762,750 (GRCm39) L456* probably null Het
Pde5a A G 3: 122,541,825 (GRCm39) D105G probably damaging Het
Pik3c3 C A 18: 30,456,597 (GRCm39) P709H probably damaging Het
R3hdm4 C T 10: 79,748,292 (GRCm39) E162K possibly damaging Het
Rab3c T C 13: 110,198,497 (GRCm39) N179S possibly damaging Het
Setdb2 T A 14: 59,646,885 (GRCm39) R559S probably benign Het
Sf3b1 A G 1: 55,042,469 (GRCm39) Y474H probably benign Het
Slc6a6 G T 6: 91,712,155 (GRCm39) W228L probably benign Het
Slc8a2 T G 7: 15,891,228 (GRCm39) I750S probably damaging Het
Slco2b1 T A 7: 99,309,251 (GRCm39) I194L unknown Het
Smarcd1 C T 15: 99,601,128 (GRCm39) Q45* probably null Het
Srcap T G 7: 127,139,492 (GRCm39) L1271R probably damaging Het
Srsf12 A T 4: 33,209,330 (GRCm39) N9Y probably damaging Het
St7 T C 6: 17,819,317 (GRCm39) S74P probably damaging Het
Stxbp5l T A 16: 36,994,688 (GRCm39) E739V probably damaging Het
Sun3 T A 11: 8,981,496 (GRCm39) Q36L possibly damaging Het
Tbc1d32 T C 10: 56,047,033 (GRCm39) H545R possibly damaging Het
Tcp11 A T 17: 28,296,994 (GRCm39) C133S probably benign Het
Tm6sf2 T C 8: 70,526,939 (GRCm39) V36A possibly damaging Het
Tmem108 T C 9: 103,376,717 (GRCm39) Y244C probably damaging Het
Tra2a A T 6: 49,227,949 (GRCm39) probably benign Het
Trpm3 A T 19: 22,903,332 (GRCm39) I1031F probably damaging Het
Ttll3 A G 6: 113,378,292 (GRCm39) K381E probably benign Het
Uaca T C 9: 60,778,430 (GRCm39) V937A probably benign Het
Umod C T 7: 119,071,577 (GRCm39) G388D probably damaging Het
Vmn2r90 G A 17: 17,924,412 (GRCm39) probably null Het
Zbtb47 T A 9: 121,594,661 (GRCm39) F540Y probably damaging Het
Zfp644 G A 5: 106,783,541 (GRCm39) T1002I probably damaging Het
Zfp738 A G 13: 67,819,131 (GRCm39) Y287H probably damaging Het
Zfyve16 T C 13: 92,644,771 (GRCm39) T1144A probably benign Het
Zgrf1 T C 3: 127,361,352 (GRCm39) probably null Het
Other mutations in Daam1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Daam1 APN 12 71,988,993 (GRCm39) missense unknown
IGL00323:Daam1 APN 12 72,005,517 (GRCm39) splice site probably benign
IGL00885:Daam1 APN 12 71,990,865 (GRCm39) missense unknown
IGL01768:Daam1 APN 12 72,036,659 (GRCm39) missense probably benign 0.39
IGL02189:Daam1 APN 12 71,993,059 (GRCm39) missense unknown
IGL02237:Daam1 APN 12 72,029,495 (GRCm39) missense probably benign 0.01
IGL02486:Daam1 APN 12 71,993,919 (GRCm39) splice site probably benign
IGL02561:Daam1 APN 12 71,993,290 (GRCm39) missense unknown
IGL02699:Daam1 APN 12 72,035,717 (GRCm39) missense probably damaging 1.00
IGL02977:Daam1 APN 12 71,990,946 (GRCm39) missense unknown
R0390:Daam1 UTSW 12 72,022,078 (GRCm39) splice site probably benign
R0492:Daam1 UTSW 12 71,991,154 (GRCm39) missense unknown
R0780:Daam1 UTSW 12 71,993,824 (GRCm39) missense unknown
R0973:Daam1 UTSW 12 71,962,558 (GRCm39) missense unknown
R0973:Daam1 UTSW 12 71,962,558 (GRCm39) missense unknown
R0974:Daam1 UTSW 12 71,962,558 (GRCm39) missense unknown
R1264:Daam1 UTSW 12 72,022,085 (GRCm39) splice site probably benign
R1462:Daam1 UTSW 12 71,990,916 (GRCm39) missense unknown
R1462:Daam1 UTSW 12 71,990,916 (GRCm39) missense unknown
R1510:Daam1 UTSW 12 72,024,500 (GRCm39) missense probably damaging 1.00
R1535:Daam1 UTSW 12 71,998,692 (GRCm39) missense unknown
R1688:Daam1 UTSW 12 71,993,820 (GRCm39) missense unknown
R1713:Daam1 UTSW 12 71,942,656 (GRCm39) missense unknown
R1957:Daam1 UTSW 12 72,029,529 (GRCm39) critical splice donor site probably null
R1974:Daam1 UTSW 12 72,035,703 (GRCm39) missense probably damaging 0.99
R2217:Daam1 UTSW 12 72,036,601 (GRCm39) missense probably damaging 1.00
R2507:Daam1 UTSW 12 72,021,997 (GRCm39) missense probably damaging 1.00
R2508:Daam1 UTSW 12 72,021,997 (GRCm39) missense probably damaging 1.00
R3161:Daam1 UTSW 12 71,993,872 (GRCm39) missense unknown
R3748:Daam1 UTSW 12 72,017,940 (GRCm39) missense probably damaging 1.00
R3749:Daam1 UTSW 12 72,017,940 (GRCm39) missense probably damaging 1.00
R4635:Daam1 UTSW 12 72,005,518 (GRCm39) splice site probably null
R4862:Daam1 UTSW 12 71,988,981 (GRCm39) missense unknown
R5033:Daam1 UTSW 12 71,993,294 (GRCm39) missense unknown
R5180:Daam1 UTSW 12 71,993,899 (GRCm39) missense unknown
R5202:Daam1 UTSW 12 71,991,048 (GRCm39) missense unknown
R5254:Daam1 UTSW 12 71,993,350 (GRCm39) missense unknown
R5413:Daam1 UTSW 12 71,993,066 (GRCm39) missense unknown
R5733:Daam1 UTSW 12 71,992,272 (GRCm39) missense unknown
R5752:Daam1 UTSW 12 71,993,320 (GRCm39) missense unknown
R5891:Daam1 UTSW 12 71,990,923 (GRCm39) missense unknown
R6111:Daam1 UTSW 12 71,989,038 (GRCm39) missense unknown
R6182:Daam1 UTSW 12 72,006,661 (GRCm39) nonsense probably null
R6251:Daam1 UTSW 12 72,035,723 (GRCm39) missense probably damaging 1.00
R6252:Daam1 UTSW 12 72,035,723 (GRCm39) missense probably damaging 1.00
R6291:Daam1 UTSW 12 71,993,025 (GRCm39) missense unknown
R6379:Daam1 UTSW 12 71,998,712 (GRCm39) missense unknown
R6776:Daam1 UTSW 12 72,036,582 (GRCm39) missense possibly damaging 0.96
R7167:Daam1 UTSW 12 72,035,678 (GRCm39) missense probably damaging 0.99
R7223:Daam1 UTSW 12 72,035,717 (GRCm39) missense probably damaging 1.00
R7340:Daam1 UTSW 12 72,035,713 (GRCm39) missense probably benign 0.28
R7467:Daam1 UTSW 12 72,032,580 (GRCm39) nonsense probably null
R7709:Daam1 UTSW 12 72,024,423 (GRCm39) missense probably benign 0.10
R7715:Daam1 UTSW 12 72,035,675 (GRCm39) missense probably benign 0.15
R8157:Daam1 UTSW 12 71,999,263 (GRCm39) missense probably damaging 1.00
R8187:Daam1 UTSW 12 71,942,602 (GRCm39) missense unknown
R8297:Daam1 UTSW 12 71,998,689 (GRCm39) missense unknown
R8963:Daam1 UTSW 12 71,992,018 (GRCm39) missense unknown
R9283:Daam1 UTSW 12 72,035,696 (GRCm39) missense probably damaging 1.00
R9402:Daam1 UTSW 12 72,006,604 (GRCm39) missense probably benign 0.09
R9563:Daam1 UTSW 12 71,992,251 (GRCm39) missense unknown
R9696:Daam1 UTSW 12 71,991,147 (GRCm39) missense unknown
R9762:Daam1 UTSW 12 71,990,855 (GRCm39) missense unknown
R9803:Daam1 UTSW 12 71,990,922 (GRCm39) missense unknown
X0019:Daam1 UTSW 12 72,032,466 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-08-04