Incidental Mutation 'R3161:Daam1'
ID 258179
Institutional Source Beutler Lab
Gene Symbol Daam1
Ensembl Gene ENSMUSG00000034574
Gene Name dishevelled associated activator of morphogenesis 1
Synonyms 1700066F09Rik, 2310028E21Rik
MMRRC Submission 040612-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3161 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 71877852-72039107 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 71993872 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 425 (T425K)
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: T425K
SMART Domains Protein: ENSMUSP00000082406
Gene: ENSMUSG00000034574
AA Change: T425K

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: T425K
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221971
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222327
Predicted Effect unknown
Transcript: ENSMUST00000223272
AA Change: T425K
Meta Mutation Damage Score 0.0850 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 98% (54/55)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik T C 5: 64,053,833 (GRCm39) probably benign Het
1700066M21Rik T A 1: 57,422,234 (GRCm39) N203K probably benign Het
Adcy9 A G 16: 4,129,452 (GRCm39) L715P probably damaging Het
Adgrl2 G A 3: 148,523,187 (GRCm39) L1354F probably damaging Het
Amer2 A G 14: 60,616,000 (GRCm39) D65G probably damaging Het
Aox1 G T 1: 58,343,597 (GRCm39) V427L possibly damaging Het
Atad2b C A 12: 4,989,689 (GRCm39) N133K possibly damaging Het
Bptf A T 11: 106,965,302 (GRCm39) D1182E probably damaging Het
Camk1g T C 1: 193,042,115 (GRCm39) T45A possibly damaging Het
Caps2 C A 10: 112,018,391 (GRCm39) Y180* probably null Het
Cfap54 T A 10: 92,881,140 (GRCm39) K349N probably damaging Het
Chct1 A G 11: 85,064,110 (GRCm39) S84G probably damaging Het
Ciz1 A G 2: 32,260,075 (GRCm39) D207G probably benign Het
Copa T A 1: 171,918,800 (GRCm39) C127S probably damaging Het
Crabp2 A T 3: 87,859,484 (GRCm39) K45* probably null Het
Dapk2 T G 9: 66,161,893 (GRCm39) V267G probably damaging Het
Disp1 T C 1: 182,868,806 (GRCm39) K1205E probably benign Het
Dlg4 G C 11: 69,908,051 (GRCm39) R4T probably damaging Het
Fbf1 A G 11: 116,039,046 (GRCm39) I743T probably damaging Het
Fen1 A G 19: 10,177,655 (GRCm39) L263P probably damaging Het
G6pc2 A G 2: 69,050,456 (GRCm39) N27S probably damaging Het
Garnl3 A T 2: 32,924,723 (GRCm39) N246K probably damaging Het
Gm7337 A C 5: 87,999,416 (GRCm39) noncoding transcript Het
Gpr152 A G 19: 4,192,713 (GRCm39) T85A probably benign Het
Hnrnpu T C 1: 178,158,690 (GRCm39) probably benign Het
Ighv1-81 C G 12: 115,883,949 (GRCm39) E101Q probably benign Het
Ipo9 T C 1: 135,337,214 (GRCm39) T174A probably benign Het
Myo9a C T 9: 59,739,598 (GRCm39) probably benign Het
Nup155 G T 15: 8,177,867 (GRCm39) R1083S possibly damaging Het
Or11g24 T A 14: 50,662,488 (GRCm39) C171S probably damaging Het
Or5an1c T C 19: 12,218,860 (GRCm39) H55R probably benign Het
Or6d13 C T 6: 116,517,807 (GRCm39) A131V probably damaging Het
Or7a35 C A 10: 78,853,438 (GRCm39) T94N probably benign Het
Phyh T A 2: 4,942,482 (GRCm39) probably benign Het
Pkp4 G T 2: 59,138,449 (GRCm39) R233M probably damaging Het
Plcb1 A T 2: 135,177,402 (GRCm39) Q578L probably benign Het
Ppil3 A T 1: 58,473,573 (GRCm39) N92K probably benign Het
Prokr1 C T 6: 87,565,413 (GRCm39) R144H probably damaging Het
Psap T C 10: 60,113,575 (GRCm39) L4P possibly damaging Het
Rai14 T C 15: 10,633,250 (GRCm39) T47A possibly damaging Het
Rps2 G T 17: 24,939,952 (GRCm39) A129S probably benign Het
Sult2a4 T C 7: 13,723,396 (GRCm39) T40A probably benign Het
Tacr2 A G 10: 62,101,024 (GRCm39) D378G probably benign Het
Topaz1 T C 9: 122,578,446 (GRCm39) I452T probably benign Het
Ttn A G 2: 76,663,581 (GRCm39) probably benign Het
Vmn2r115 T A 17: 23,575,998 (GRCm39) M532K possibly damaging Het
Vmn2r117 A G 17: 23,679,352 (GRCm39) L624P probably damaging Het
Vstm5 T G 9: 15,168,594 (GRCm39) S53A probably benign Het
Wipf1 C T 2: 73,265,293 (GRCm39) E437K probably damaging Het
Wls G T 3: 159,603,073 (GRCm39) C162F probably damaging Het
Yeats2 T C 16: 20,012,395 (GRCm39) V531A probably damaging Het
Zfp868 A G 8: 70,064,736 (GRCm39) S200P probably benign 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
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'- TGCTATTGACAGCGACTCATC -3'
(R):5'- TCTCTGGGCACACAAACAG -3'

Sequencing Primer
(F):5'- GACAGCGACTCATCCTAGTTTAC -3'
(R):5'- CAGTGTACTGCAGAGTCCTTG -3'
Posted On 2015-01-23