Incidental Mutation 'R2217:Daam1'
ID 241229
Institutional Source Beutler Lab
Gene Symbol Daam1
Ensembl Gene ENSMUSG00000034574
Gene Name dishevelled associated activator of morphogenesis 1
Synonyms 1700066F09Rik, 2310028E21Rik
MMRRC Submission 040219-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2217 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 71877852-72039107 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 72036601 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 1058 (R1058H)
Ref Sequence ENSEMBL: ENSMUSP00000152564 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085299] [ENSMUST00000221317] [ENSMUST00000223272]
AlphaFold Q8BPM0
Predicted Effect probably damaging
Transcript: ENSMUST00000085299
AA Change: R1058H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082406
Gene: ENSMUSG00000034574
AA Change: R1058H

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 damaging
Transcript: ENSMUST00000221317
AA Change: R1049H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000223272
AA Change: R1058H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat1 T C 8: 112,709,128 (GRCm39) K232E probably benign Het
Apba1 T C 19: 23,871,326 (GRCm39) M386T probably damaging Het
Appl2 G T 10: 83,444,601 (GRCm39) F472L possibly damaging Het
Atxn2 T C 5: 121,941,140 (GRCm39) Y56H probably damaging Het
Cacna1c T C 6: 118,647,368 (GRCm39) Y809C probably damaging Het
Canx C T 11: 50,201,694 (GRCm39) V59I probably benign Het
Catsperb T C 12: 101,560,478 (GRCm39) L823P probably damaging Het
Crb3 T C 17: 57,372,090 (GRCm39) S46P probably benign Het
Ehd1 T A 19: 6,348,502 (GRCm39) D493E probably damaging Het
Eml6 T A 11: 29,768,907 (GRCm39) Q746L probably damaging Het
Epg5 T A 18: 77,992,287 (GRCm39) M328K probably benign Het
Flt4 T A 11: 49,515,555 (GRCm39) S48T probably benign Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Gm7535 A G 17: 18,131,936 (GRCm39) probably benign Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
Hmcn2 A T 2: 31,240,586 (GRCm39) T494S probably benign Het
Hydin G A 8: 111,145,138 (GRCm39) V830I probably benign Het
Map3k6 T A 4: 132,973,983 (GRCm39) H487Q possibly damaging Het
Myh14 G A 7: 44,283,800 (GRCm39) P735S probably damaging Het
Nfkb2 T C 19: 46,296,163 (GRCm39) probably null Het
Nlrp4c T C 7: 6,076,113 (GRCm39) V671A probably benign Het
Nsrp1 A T 11: 76,936,587 (GRCm39) Y536* probably null Het
Or4c112 G T 2: 88,853,770 (GRCm39) H192Q probably benign Het
Pak5 A G 2: 135,958,123 (GRCm39) S322P probably damaging Het
Pank2 A G 2: 131,124,601 (GRCm39) probably null Het
Phf6 A T X: 52,031,525 (GRCm39) I272F probably damaging Het
Plxna2 T C 1: 194,480,056 (GRCm39) L1409P probably damaging Het
Polr2a A G 11: 69,633,511 (GRCm39) probably null Het
Pp2d1 C A 17: 53,822,482 (GRCm39) V195L probably benign Het
Psma1 C T 7: 113,864,173 (GRCm39) E227K unknown Het
Ptger1 C T 8: 84,395,357 (GRCm39) T278I probably benign Het
Slc20a2 C A 8: 23,050,532 (GRCm39) S250R probably benign Het
Slc27a2 A G 2: 126,409,672 (GRCm39) T285A probably damaging Het
Slc47a2 T C 11: 61,204,497 (GRCm39) T285A probably benign Het
Slf1 T A 13: 77,194,825 (GRCm39) probably null Het
Tiam2 A G 17: 3,465,389 (GRCm39) T373A probably benign Het
Timd2 T A 11: 46,577,844 (GRCm39) I96L probably damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Tmem64 T C 4: 15,266,658 (GRCm39) I236T possibly damaging Het
Trpm2 T A 10: 77,777,016 (GRCm39) D427V probably damaging Het
Vax2 A T 6: 83,714,871 (GRCm39) Y262F probably damaging Het
Virma T C 4: 11,544,924 (GRCm39) S1628P probably damaging Het
Zan C A 5: 137,408,568 (GRCm39) probably benign Het
Zbtb22 T G 17: 34,136,939 (GRCm39) D361E probably damaging Het
Zfp27 A G 7: 29,595,536 (GRCm39) L143P possibly damaging 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
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
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
(F):5'- AGATTCATTCCCTGCCGTGG -3'
(R):5'- ACCTTCACTCACAGAGGAGAGAAG -3'

Sequencing Primer
(F):5'- GAATCCTTCCCTCTGTGCAGAAAAC -3'
(R):5'- AGAAATTGCCATTGTTTTGGATCGC -3'
Posted On 2014-10-15