Incidental Mutation 'R5033:Daam1'
ID 389393
Institutional Source Beutler Lab
Gene Symbol Daam1
Ensembl Gene ENSMUSG00000034574
Gene Name dishevelled associated activator of morphogenesis 1
Synonyms 1700066F09Rik, 2310028E21Rik
MMRRC Submission 042624-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5033 (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 71993294 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 354 (H354Q)
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: H354Q
SMART Domains Protein: ENSMUSP00000082406
Gene: ENSMUSG00000034574
AA Change: H354Q

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: H354Q
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221971
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222327
Predicted Effect unknown
Transcript: ENSMUST00000223272
AA Change: H354Q
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.8%
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
9930111J21Rik1 G A 11: 48,838,533 (GRCm39) R685W probably damaging Het
Arhgap10 A T 8: 78,109,386 (GRCm39) L399H probably damaging Het
Arih2 AGCCG AG 9: 108,488,859 (GRCm39) probably benign Het
Atp13a2 A G 4: 140,728,132 (GRCm39) H575R possibly damaging Het
Bbof1 G A 12: 84,458,044 (GRCm39) probably null Het
Bltp3a A G 17: 28,105,838 (GRCm39) E788G probably damaging Het
Catsperg2 A C 7: 29,409,559 (GRCm39) Y545D possibly damaging Het
Cdc42bpa T A 1: 179,892,580 (GRCm39) I248N probably damaging Het
Cdk11b A T 4: 155,733,282 (GRCm39) probably benign Het
Cfap46 C A 7: 139,183,776 (GRCm39) L90F probably benign Het
Cndp2 A G 18: 84,688,954 (GRCm39) L276P possibly damaging Het
Col3a1 A C 1: 45,385,270 (GRCm39) D129A probably damaging Het
Dnah5 T A 15: 28,421,824 (GRCm39) F3892Y probably damaging Het
Dnajb3 A G 1: 88,132,745 (GRCm39) V219A possibly damaging Het
Drd5 A G 5: 38,477,544 (GRCm39) H179R probably damaging Het
Dym A G 18: 75,252,232 (GRCm39) N333D possibly damaging Het
Eif2b3 A G 4: 116,909,933 (GRCm39) D156G probably damaging Het
Emc1 A G 4: 139,099,007 (GRCm39) D830G probably damaging Het
F13a1 A C 13: 37,172,830 (GRCm39) I183M probably damaging Het
Fam136b-ps T A 15: 31,277,043 (GRCm39) probably benign Het
Fdft1 C A 14: 63,400,853 (GRCm39) K93N probably damaging Het
Garre1 C T 7: 33,945,237 (GRCm39) G336S probably benign Het
Gcc2 A G 10: 58,114,628 (GRCm39) D959G probably damaging Het
Gp2 A G 7: 119,053,514 (GRCm39) V149A probably damaging Het
Gpc1 G A 1: 92,784,751 (GRCm39) G308D probably damaging Het
Hdac9 A T 12: 34,423,906 (GRCm39) C587S probably benign Het
Hspg2 C T 4: 137,246,251 (GRCm39) R1010C probably damaging Het
Iars2 A G 1: 185,050,125 (GRCm39) V453A possibly damaging Het
Il1r1 T G 1: 40,332,684 (GRCm39) C121W probably damaging Het
Inhca A G 9: 103,156,613 (GRCm39) V149A probably benign Het
Jazf1 A G 6: 52,754,525 (GRCm39) Y184H probably damaging Het
Kel A T 6: 41,675,989 (GRCm39) Y234N probably damaging Het
Khk G A 5: 31,087,004 (GRCm39) G186D probably damaging Het
Klf4 A T 4: 55,530,301 (GRCm39) M270K probably benign Het
Kmt2c G A 5: 25,519,706 (GRCm39) L2135F probably benign Het
Krtap15-1 A G 16: 88,626,044 (GRCm39) Y37C probably damaging Het
Lars1 A G 18: 42,347,841 (GRCm39) F994S possibly damaging Het
Ldc1 C T 4: 130,115,408 (GRCm39) probably null Het
Lrp8 T C 4: 107,691,952 (GRCm39) probably null Het
Lrrc2 A T 9: 110,809,987 (GRCm39) D341V probably damaging Het
Map4k4 A G 1: 40,046,662 (GRCm39) K646R probably damaging Het
Mrps9 T A 1: 42,934,491 (GRCm39) probably null Het
Or10ag60 T A 2: 87,438,055 (GRCm39) C108S probably damaging Het
Or11h6 T A 14: 50,880,619 (GRCm39) Y288N probably damaging Het
Or8c20 C T 9: 38,260,924 (GRCm39) H176Y probably damaging Het
Pcnt A T 10: 76,235,779 (GRCm39) C1401S possibly damaging Het
Pdgfrb A T 18: 61,210,740 (GRCm39) K749M probably damaging Het
Pigo A T 4: 43,019,412 (GRCm39) W969R probably null Het
Pigr A T 1: 130,772,436 (GRCm39) Y218F probably damaging Het
Pih1d1 A G 7: 44,804,278 (GRCm39) probably benign Het
Pik3cg A T 12: 32,249,195 (GRCm39) probably null Het
Pik3r6 A T 11: 68,424,294 (GRCm39) K300* probably null Het
Pip5k1c A G 10: 81,141,084 (GRCm39) D64G probably damaging Het
Piwil2 A T 14: 70,659,042 (GRCm39) I161K possibly damaging Het
Pou3f1 A G 4: 124,552,449 (GRCm39) E317G probably damaging Het
Prdm8 C T 5: 98,333,071 (GRCm39) Q213* probably null Het
Prpf6 T A 2: 181,291,899 (GRCm39) C739S possibly damaging Het
Psmc3 T A 2: 90,884,953 (GRCm39) S40T probably benign Het
Psmd3 A T 11: 98,573,650 (GRCm39) D32V probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rapgef6 A T 11: 54,582,207 (GRCm39) H1373L possibly damaging Het
Rnf207 A C 4: 152,397,666 (GRCm39) S328A probably benign Het
Ros1 C T 10: 52,004,512 (GRCm39) probably null Het
Ryr2 T A 13: 11,602,140 (GRCm39) I4581F possibly damaging Het
Sacm1l C T 9: 123,415,464 (GRCm39) R480W probably damaging Het
Sec16a A G 2: 26,309,661 (GRCm39) V664A probably benign Het
Selenoo T A 15: 88,976,969 (GRCm39) M207K probably damaging Het
Sh3tc2 G A 18: 62,147,962 (GRCm39) probably null Het
Slc28a2b T A 2: 122,353,395 (GRCm39) probably null Het
Slco2b1 G T 7: 99,309,256 (GRCm39) Q692K probably benign Het
Slfn4 A T 11: 83,077,623 (GRCm39) D137V probably damaging Het
Srrm2 G A 17: 24,039,592 (GRCm39) A2175T probably damaging Het
Stard9 T A 2: 120,523,880 (GRCm39) C692S probably benign Het
Sulf2 T A 2: 165,923,542 (GRCm39) D559V probably benign Het
Tbpl2 T C 2: 23,977,170 (GRCm39) I283V probably benign Het
Tmem19 A G 10: 115,195,666 (GRCm39) F46S probably benign Het
Trp63 T A 16: 25,582,056 (GRCm39) Y35N probably damaging Het
Ttn T A 2: 76,716,786 (GRCm39) probably benign Het
Ube2z A T 11: 95,941,148 (GRCm39) H331Q probably benign Het
Ubr1 C T 2: 120,742,478 (GRCm39) probably null Het
Vmn1r235 A T 17: 21,482,550 (GRCm39) I292F possibly damaging Het
Vmn2r1 T A 3: 64,012,501 (GRCm39) D787E probably damaging Het
Vmn2r3 A G 3: 64,167,220 (GRCm39) V637A probably benign Het
Xpnpep1 C A 19: 52,994,606 (GRCm39) V341L probably benign Het
Yme1l1 A G 2: 23,084,759 (GRCm39) D619G probably damaging Het
Zfp597 G A 16: 3,684,502 (GRCm39) P85S probably damaging Het
Zscan20 A G 4: 128,479,921 (GRCm39) S857P 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
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
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'- TGTAGGCTCATAATCGTTCTGG -3'
(R):5'- TACAGAGTATGCGCTTTGGACAC -3'

Sequencing Primer
(F):5'- GGACTTGCCTCAGAAATGCATGTTC -3'
(R):5'- GACACTGTCCCAGGTCTCCATG -3'
Posted On 2016-06-06