Incidental Mutation 'R5413:Daam1'
ID 501035
Institutional Source Beutler Lab
Gene Symbol Daam1
Ensembl Gene ENSMUSG00000034574
Gene Name dishevelled associated activator of morphogenesis 1
Synonyms 1700066F09Rik, 2310028E21Rik
MMRRC Submission 042982-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5413 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 71877852-72039107 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 71993066 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Methionine at position 352 (L352M)
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: L352M
SMART Domains Protein: ENSMUSP00000082406
Gene: ENSMUSG00000034574
AA Change: L352M

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: L352M
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221971
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222327
Predicted Effect unknown
Transcript: ENSMUST00000223272
AA Change: L352M
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 T A 11: 48,911,204 (GRCm39) T410S possibly damaging Het
Adamts3 A G 5: 89,856,626 (GRCm39) S316P probably damaging Het
Angptl3 A T 4: 98,919,259 (GRCm39) L6F probably benign Het
Clint1 T C 11: 45,777,307 (GRCm39) V98A probably damaging Het
Clk2 A G 3: 89,080,785 (GRCm39) N258S probably benign Het
Col18a1 T C 10: 76,905,310 (GRCm39) D723G probably damaging Het
Csmd3 A T 15: 47,701,831 (GRCm39) W1751R probably damaging Het
Dennd2a A T 6: 39,441,227 (GRCm39) F964I probably damaging Het
Dock5 A G 14: 68,002,104 (GRCm39) L1622P probably damaging Het
Dpy19l4 A G 4: 11,289,700 (GRCm39) L195P probably damaging Het
Esp24 A C 17: 39,350,893 (GRCm39) E31A possibly damaging Het
Fars2 T A 13: 36,388,545 (GRCm39) Y11* probably null Het
Fbxl16 C A 17: 26,035,817 (GRCm39) T138K possibly damaging Het
Frmpd1 A G 4: 45,249,196 (GRCm39) I129V probably benign Het
Gria1 A G 11: 57,108,620 (GRCm39) N241S probably benign Het
Homer1 A G 13: 93,528,287 (GRCm39) E274G probably benign Het
Igdcc3 T C 9: 65,084,797 (GRCm39) V189A possibly damaging Het
Igkv12-98 A G 6: 68,548,078 (GRCm39) Y68C possibly damaging Het
Igkv3-3 G C 6: 70,664,414 (GRCm39) R85S probably damaging Het
Ldha A G 7: 46,500,320 (GRCm39) T144A possibly damaging Het
Lrp1 A G 10: 127,423,936 (GRCm39) probably null Het
Myh9 A T 15: 77,692,186 (GRCm39) Y124* probably null Het
Or14c44 A G 7: 86,061,675 (GRCm39) Y35C probably benign Het
Or2n1d G T 17: 38,646,515 (GRCm39) A156S probably benign Het
Or2y1b A T 11: 49,209,240 (GRCm39) Y289F probably damaging Het
Or6b13 A T 7: 139,782,635 (GRCm39) V16E possibly damaging Het
Osbp T C 19: 11,961,855 (GRCm39) Y551H probably damaging Het
Paf1 T C 7: 28,096,040 (GRCm39) M249T possibly damaging Het
Pcsk2 T C 2: 143,538,620 (GRCm39) probably null Het
Piwil1 G A 5: 128,820,944 (GRCm39) V290I possibly damaging Het
Prmt9 A T 8: 78,298,638 (GRCm39) D444V possibly damaging Het
Rapgef2 T C 3: 78,995,173 (GRCm39) D677G probably damaging Het
Tmem59 A G 4: 107,057,659 (GRCm39) E237G probably benign Het
Trpm5 A T 7: 142,634,705 (GRCm39) I664N probably damaging Het
Unc13b G A 4: 43,257,936 (GRCm39) probably null Het
Usp17lc C A 7: 103,067,763 (GRCm39) Q353K probably benign Het
Uvssa G A 5: 33,568,252 (GRCm39) V547M probably damaging Het
Vdac1 G T 11: 52,265,794 (GRCm39) L52F probably null Het
Vmn2r14 T A 5: 109,369,154 (GRCm39) I140L probably benign Het
Wnt3a A G 11: 59,166,182 (GRCm39) S33P probably benign Het
Wwp2 T A 8: 108,281,710 (GRCm39) Y300N probably damaging Het
Zwilch T A 9: 64,075,892 (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
R5358:Daam1 UTSW 12 71,999,233 (GRCm39) nonsense probably null
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 2017-12-01