Incidental Mutation 'R5677:Diaph1'
ID 442860
Institutional Source Beutler Lab
Gene Symbol Diaph1
Ensembl Gene ENSMUSG00000024456
Gene Name diaphanous related formin 1
Synonyms Drf1, Dia1, D18Wsu154e, mDia1, Diap1, p140mDia
MMRRC Submission 043316-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5677 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 37843601-37935476 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 37855951 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 910 (M910K)
Ref Sequence ENSEMBL: ENSMUSP00000111297 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025337] [ENSMUST00000080033] [ENSMUST00000115629] [ENSMUST00000115631] [ENSMUST00000115634]
AlphaFold O08808
PDB Structure Crystal structure of the core FH2 domain of mouse mDia1 [X-RAY DIFFRACTION]
Crystal structure of mDIA1 GBD-FH3 in complex with RhoC-GMPPNP [X-RAY DIFFRACTION]
Crystal structure of the N-terminal mDia1 Armadillo Repeat Region and Dimerisation Domain in complex with the mDia1 autoregulatory domain (DAD) [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE DIMERIC REGULATORY DOMAIN OF MOUSE DIAPHANEOUS-RELATED FORMIN (DRF), MDIA1 [X-RAY DIFFRACTION]
Crystal structure of the autoinhibitory switch in Formin mDia1; the DID/DAD complex [X-RAY DIFFRACTION]
Mouse Profilin IIa in complex with a double repeat from the FH1 domain of mDia1 [X-RAY DIFFRACTION]
Crystal structure of MDIA1-TSH GBD-FH3 in complex with CDC42-GMPPNP [X-RAY DIFFRACTION]
Crystal structure of complex between amino and carboxy terminal fragments of mDia1 [X-RAY DIFFRACTION]
Autoinhibited Formin mDia1 Structure [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000025337
AA Change: M919K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025337
Gene: ENSMUSG00000024456
AA Change: M919K

DomainStartEndE-ValueType
low complexity region 5 13 N/A INTRINSIC
Drf_GBD 84 268 1.07e-57 SMART
Drf_FH3 274 466 2.06e-68 SMART
coiled coil region 471 571 N/A INTRINSIC
Pfam:Drf_FH1 609 756 6.1e-43 PFAM
FH2 761 1206 2.46e-182 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000080033
AA Change: M910K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078942
Gene: ENSMUSG00000024456
AA Change: M910K

DomainStartEndE-ValueType
low complexity region 5 13 N/A INTRINSIC
Drf_GBD 75 259 1.07e-57 SMART
Drf_FH3 265 457 2.06e-68 SMART
coiled coil region 462 562 N/A INTRINSIC
Pfam:Drf_FH1 589 747 7.9e-52 PFAM
FH2 752 1197 3.73e-182 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115629
AA Change: M875K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111292
Gene: ENSMUSG00000024456
AA Change: M875K

DomainStartEndE-ValueType
Drf_GBD 40 224 1.07e-57 SMART
Drf_FH3 230 422 2.06e-68 SMART
coiled coil region 427 527 N/A INTRINSIC
Pfam:Drf_FH1 554 712 7.6e-52 PFAM
FH2 717 1162 3.73e-182 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115631
AA Change: M875K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111294
Gene: ENSMUSG00000024456
AA Change: M875K

DomainStartEndE-ValueType
Drf_GBD 40 224 1.07e-57 SMART
Drf_FH3 230 422 2.06e-68 SMART
coiled coil region 427 527 N/A INTRINSIC
Pfam:Drf_FH1 554 712 1.1e-51 PFAM
FH2 717 1162 2.46e-182 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115634
AA Change: M910K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111297
Gene: ENSMUSG00000024456
AA Change: M910K

DomainStartEndE-ValueType
low complexity region 5 13 N/A INTRINSIC
Drf_GBD 75 259 1.07e-57 SMART
Drf_FH3 265 457 2.06e-68 SMART
coiled coil region 462 562 N/A INTRINSIC
Pfam:Drf_FH1 589 747 9.4e-52 PFAM
FH2 752 1197 2.46e-182 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124822
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127346
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183927
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the formin family of proteins that play important roles in cytoskeletal rearragnement by nucleation of actin filaments. Mice lacking the encoded protein develop age-dependent myeloproliferative defects resembling human myeloproliferative syndrome and myelodysplastic syndromes. Trafficking of T lymphocytes to secondary lymphoid organs and egression of thymocytes from the thymus are impaired in these animals. Lack of the encoded protein in T lymphocytes and thymocytes also reduces chemotaxis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal hematopoiesis, bone marrow cell morphology, spleen morphology, skin physiology, skull morphology, and postnatal growth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 116 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik C T 10: 28,986,229 (GRCm38) V22I probably benign Het
4930430A15Rik T C 2: 111,211,565 (GRCm38) T342A probably benign Het
4931423N10Rik T A 2: 23,212,718 (GRCm38) L156Q probably damaging Het
Abca8a A T 11: 110,038,399 (GRCm38) V1296D possibly damaging Het
Abca8b C T 11: 109,940,861 (GRCm38) S1328N probably damaging Het
Adcy1 G A 11: 7,161,914 (GRCm38) M926I probably damaging Het
Aff4 G T 11: 53,400,275 (GRCm38) M687I possibly damaging Het
Agbl2 T A 2: 90,807,978 (GRCm38) Y636N possibly damaging Het
Agtr1a A T 13: 30,381,584 (GRCm38) I211F probably damaging Het
Alkbh8 T G 9: 3,385,147 (GRCm38) S480A possibly damaging Het
Ankrd13b A T 11: 77,477,544 (GRCm38) V84E probably damaging Het
Ap3b1 C T 13: 94,528,196 (GRCm38) T881I unknown Het
Apbb1 A C 7: 105,559,246 (GRCm38) D617E probably damaging Het
Apobec4 A G 1: 152,757,282 (GRCm38) R354G probably benign Het
BC003331 G A 1: 150,374,837 (GRCm38) L319F probably damaging Het
Brdt T G 5: 107,348,617 (GRCm38) C198W possibly damaging Het
Cacna1b G T 2: 24,679,358 (GRCm38) H851Q possibly damaging Het
Car2 G T 3: 14,898,055 (GRCm38) V217F possibly damaging Het
Ccdc24 A C 4: 117,869,880 (GRCm38) probably benign Het
Chodl C A 16: 78,941,315 (GRCm38) A57E probably damaging Het
Clgn G T 8: 83,409,538 (GRCm38) C185F probably damaging Het
Cltc G T 11: 86,705,242 (GRCm38) N1223K probably damaging Het
Cnot10 T C 9: 114,629,093 (GRCm38) N115S probably damaging Het
Col12a1 T C 9: 79,699,321 (GRCm38) R607G probably damaging Het
Cpd A G 11: 76,799,825 (GRCm38) V835A probably benign Het
Csmd3 G C 15: 48,622,051 (GRCm38) L153V probably damaging Het
Ctr9 A G 7: 111,044,002 (GRCm38) H527R probably benign Het
Cwc22 G A 2: 77,929,443 (GRCm38) R87W probably damaging Het
D930020B18Rik T A 10: 121,669,201 (GRCm38) N107K probably benign Het
Dgkg C A 16: 22,570,171 (GRCm38) V418L probably benign Het
Dhx40 A G 11: 86,800,963 (GRCm38) probably null Het
Diras2 T A 13: 52,507,675 (GRCm38) M199L possibly damaging Het
Dnah8 G A 17: 30,748,568 (GRCm38) D2585N probably benign Het
Dock5 T A 14: 67,777,603 (GRCm38) Q1302H probably benign Het
Dync1i2 T C 2: 71,228,623 (GRCm38) S90P probably benign Het
E2f8 A T 7: 48,867,195 (GRCm38) V812E probably damaging Het
Egfem1 C A 3: 29,690,174 (GRCm38) Q521K probably damaging Het
Fbxl18 A T 5: 142,878,720 (GRCm38) C699* probably null Het
Fgf3 C T 7: 144,838,783 (GRCm38) R26* probably null Het
Fpr-rs7 T G 17: 20,114,103 (GRCm38) I42L probably benign Het
Gm13101 A T 4: 143,965,138 (GRCm38) D338E possibly damaging Het
Gm3159 T A 14: 4,398,582 (GRCm38) M91K probably damaging Het
Gprin3 A G 6: 59,353,892 (GRCm38) S477P possibly damaging Het
Grm8 A T 6: 27,761,204 (GRCm38) probably null Het
Hepacam2 A T 6: 3,466,142 (GRCm38) D420E probably damaging Het
Hmcn1 A T 1: 150,609,778 (GRCm38) W4358R probably benign Het
Ifna6 G A 4: 88,827,719 (GRCm38) A102T probably benign Het
Ighv2-2 T C 12: 113,588,522 (GRCm38) Q32R probably benign Het
Igkv1-131 T A 6: 67,766,258 (GRCm38) Q47L possibly damaging Het
Il16 T C 7: 83,674,553 (GRCm38) E263G probably damaging Het
Kansl1 A T 11: 104,335,148 (GRCm38) C981S probably benign Het
Lrp1 A T 10: 127,574,429 (GRCm38) F1483I probably damaging Het
Ltf T C 9: 111,020,912 (GRCm38) M1T probably null Het
Ly75 C T 2: 60,299,082 (GRCm38) R1653H probably benign Het
Macrod2 T C 2: 142,176,667 (GRCm38) F240S probably damaging Het
Man1c1 T C 4: 134,569,060 (GRCm38) E433G probably damaging Het
Mansc4 A T 6: 147,081,549 (GRCm38) M130K probably benign Het
Mccc1 C T 3: 35,990,048 (GRCm38) probably null Het
Mink1 G T 11: 70,605,165 (GRCm38) R75L possibly damaging Het
Mst1 A G 9: 108,081,286 (GRCm38) D65G probably damaging Het
Myo9b C T 8: 71,343,686 (GRCm38) A857V probably damaging Het
Ndufa4 A G 6: 11,900,575 (GRCm38) V70A probably benign Het
Npat T A 9: 53,555,100 (GRCm38) S230T probably benign Het
Nr1d1 A G 11: 98,771,308 (GRCm38) Y167H probably damaging Het
Oca2 A G 7: 56,414,462 (GRCm38) D735G probably damaging Het
Olfr13 T C 6: 43,174,331 (GRCm38) V115A probably benign Het
Olfr1359 C T 13: 21,703,223 (GRCm38) T74I probably benign Het
Olfr1383 A G 11: 49,523,944 (GRCm38) T74A probably damaging Het
Olfr835 T A 9: 19,035,558 (GRCm38) I145N possibly damaging Het
Otop1 A G 5: 38,300,163 (GRCm38) Y422C probably damaging Het
Pde4dip G A 3: 97,841,648 (GRCm38) R126* probably null Het
Pdp2 C T 8: 104,594,688 (GRCm38) P390S probably damaging Het
Pds5b A T 5: 150,716,461 (GRCm38) T14S possibly damaging Het
Pfkp T C 13: 6,588,595 (GRCm38) E580G probably damaging Het
Piezo2 G C 18: 63,117,697 (GRCm38) L444V probably benign Het
Piezo2 A T 18: 63,117,696 (GRCm38) L212Q possibly damaging Het
Pla2g4d T A 2: 120,278,948 (GRCm38) T207S possibly damaging Het
Plk2 C A 13: 110,399,057 (GRCm38) T471K possibly damaging Het
Ppp1r3g G A 13: 35,969,262 (GRCm38) E222K probably damaging Het
Prkcg A G 7: 3,323,458 (GRCm38) D480G probably damaging Het
Pxdc1 T A 13: 34,652,195 (GRCm38) T81S probably benign Het
Rnf150 A T 8: 83,003,599 (GRCm38) K253* probably null Het
Rsg1 C T 4: 141,219,866 (GRCm38) P186L probably benign Het
Sae1 T C 7: 16,370,462 (GRCm38) probably null Het
Scin C T 12: 40,063,259 (GRCm38) D538N probably damaging Het
Serpinb3c C A 1: 107,271,803 (GRCm38) K329N probably damaging Het
Sgo2b T A 8: 63,926,974 (GRCm38) K941N possibly damaging Het
Six1 C T 12: 73,046,284 (GRCm38) S48N possibly damaging Het
Slc39a8 G A 3: 135,884,688 (GRCm38) G381R probably damaging Het
Slc9b1 A G 3: 135,357,559 (GRCm38) K35E unknown Het
Srek1 C T 13: 103,759,244 (GRCm38) A274T probably damaging Het
Steap2 A T 5: 5,677,497 (GRCm38) Y279* probably null Het
Svil T A 18: 5,046,823 (GRCm38) L110* probably null Het
Syncrip T C 9: 88,456,709 (GRCm38) probably benign Het
Tcf20 A G 15: 82,853,242 (GRCm38) I1336T probably benign Het
Tecpr1 T A 5: 144,218,633 (GRCm38) K36* probably null Het
Tenm2 A G 11: 36,141,683 (GRCm38) V670A probably damaging Het
Thbd G A 2: 148,407,366 (GRCm38) T194I probably damaging Het
Tm9sf2 A T 14: 122,151,962 (GRCm38) probably null Het
Tmtc4 A T 14: 122,950,499 (GRCm38) I225N probably damaging Het
Tpp1 C T 7: 105,747,536 (GRCm38) V425M probably damaging Het
Trbc2 T A 6: 41,547,812 (GRCm38) Y144* probably null Het
Trps1 T C 15: 50,846,108 (GRCm38) D282G probably damaging Het
Tsc22d4 T A 5: 137,747,142 (GRCm38) S9R probably damaging Het
Upp1 T A 11: 9,136,025 (GRCm38) D287E probably benign Het
Uso1 A C 5: 92,201,299 (GRCm38) Q916H probably damaging Het
Uty T A Y: 1,134,902 (GRCm38) Y884F probably damaging Het
Vmn1r222 T C 13: 23,232,780 (GRCm38) R88G probably damaging Het
Vmn1r79 T C 7: 12,177,001 (GRCm38) V270A possibly damaging Het
Zbtb22 T C 17: 33,917,735 (GRCm38) S285P probably benign Het
Zfp385a A G 15: 103,318,065 (GRCm38) V82A probably damaging Het
Zfp59 T C 7: 27,854,169 (GRCm38) F349L probably benign Het
Zfp780b T G 7: 27,962,799 (GRCm38) H777P probably benign Het
Zfp82 T C 7: 30,057,124 (GRCm38) T178A probably benign Het
Zfp850 T C 7: 27,989,088 (GRCm38) Y565C probably damaging Het
Zfp957 A G 14: 79,212,767 (GRCm38) Y531H probably damaging Het
Other mutations in Diaph1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00518:Diaph1 APN 18 37,893,348 (GRCm38) critical splice donor site probably null
IGL01432:Diaph1 APN 18 37,897,504 (GRCm38) missense unknown
IGL01646:Diaph1 APN 18 37,893,416 (GRCm38) critical splice acceptor site probably null
IGL01676:Diaph1 APN 18 37,856,188 (GRCm38) nonsense probably null
IGL01731:Diaph1 APN 18 37,853,709 (GRCm38) critical splice acceptor site probably benign
IGL01921:Diaph1 APN 18 37,856,208 (GRCm38) missense possibly damaging 0.73
IGL02200:Diaph1 APN 18 37,890,682 (GRCm38) missense unknown
IGL02258:Diaph1 APN 18 37,853,330 (GRCm38) missense probably damaging 0.99
IGL02325:Diaph1 APN 18 37,853,600 (GRCm38) missense probably damaging 1.00
IGL03304:Diaph1 APN 18 37,854,573 (GRCm38) missense possibly damaging 0.47
albatross UTSW 18 37,853,679 (GRCm38) nonsense probably null
cucamonga UTSW 18 37,896,093 (GRCm38) critical splice donor site probably null
damselfly UTSW 18 37,897,550 (GRCm38) nonsense probably null
devastator UTSW 18 37,896,093 (GRCm38) critical splice donor site probably null
fishnets UTSW 18 37,895,300 (GRCm38) critical splice acceptor site probably null
Guangzhou UTSW 18 37,896,093 (GRCm38) critical splice donor site probably null
saran UTSW 18 37,855,804 (GRCm38) missense probably damaging 1.00
seethrough UTSW 18 37,889,769 (GRCm38) missense probably damaging 1.00
sheer UTSW 18 37,896,093 (GRCm38) critical splice donor site probably benign
R0137:Diaph1 UTSW 18 37,891,849 (GRCm38) missense unknown
R0446:Diaph1 UTSW 18 37,853,590 (GRCm38) missense possibly damaging 0.94
R0523:Diaph1 UTSW 18 37,856,500 (GRCm38) missense possibly damaging 0.56
R1433:Diaph1 UTSW 18 37,905,134 (GRCm38) missense unknown
R1532:Diaph1 UTSW 18 37,896,093 (GRCm38) critical splice donor site probably null
R1534:Diaph1 UTSW 18 37,896,093 (GRCm38) critical splice donor site probably null
R1535:Diaph1 UTSW 18 37,896,093 (GRCm38) critical splice donor site probably null
R1536:Diaph1 UTSW 18 37,896,093 (GRCm38) critical splice donor site probably null
R1537:Diaph1 UTSW 18 37,896,093 (GRCm38) critical splice donor site probably null
R1611:Diaph1 UTSW 18 37,900,702 (GRCm38) missense unknown
R1756:Diaph1 UTSW 18 37,854,573 (GRCm38) missense possibly damaging 0.47
R1771:Diaph1 UTSW 18 37,891,018 (GRCm38) missense unknown
R1812:Diaph1 UTSW 18 37,891,018 (GRCm38) missense unknown
R2121:Diaph1 UTSW 18 37,896,389 (GRCm38) missense unknown
R3710:Diaph1 UTSW 18 37,845,484 (GRCm38) missense probably damaging 1.00
R3891:Diaph1 UTSW 18 37,900,638 (GRCm38) splice site probably benign
R3892:Diaph1 UTSW 18 37,900,638 (GRCm38) splice site probably benign
R4077:Diaph1 UTSW 18 37,853,583 (GRCm38) missense possibly damaging 0.68
R4079:Diaph1 UTSW 18 37,853,583 (GRCm38) missense possibly damaging 0.68
R4771:Diaph1 UTSW 18 37,853,551 (GRCm38) missense probably damaging 1.00
R4815:Diaph1 UTSW 18 37,895,203 (GRCm38) missense unknown
R5242:Diaph1 UTSW 18 37,851,635 (GRCm38) missense probably damaging 1.00
R5294:Diaph1 UTSW 18 37,897,580 (GRCm38) missense unknown
R5294:Diaph1 UTSW 18 37,897,550 (GRCm38) nonsense probably null
R5349:Diaph1 UTSW 18 37,891,072 (GRCm38) missense unknown
R5427:Diaph1 UTSW 18 37,890,595 (GRCm38) missense unknown
R5623:Diaph1 UTSW 18 37,896,093 (GRCm38) critical splice donor site probably benign
R5730:Diaph1 UTSW 18 37,903,776 (GRCm38) missense unknown
R5767:Diaph1 UTSW 18 37,853,355 (GRCm38) missense probably damaging 1.00
R5925:Diaph1 UTSW 18 37,891,935 (GRCm38) missense unknown
R6151:Diaph1 UTSW 18 37,853,353 (GRCm38) missense probably damaging 1.00
R6823:Diaph1 UTSW 18 37,876,383 (GRCm38) splice site probably null
R6876:Diaph1 UTSW 18 37,896,373 (GRCm38) missense unknown
R6925:Diaph1 UTSW 18 37,853,679 (GRCm38) nonsense probably null
R6983:Diaph1 UTSW 18 37,889,769 (GRCm38) missense probably damaging 1.00
R7073:Diaph1 UTSW 18 37,889,814 (GRCm38) critical splice acceptor site probably null
R7248:Diaph1 UTSW 18 37,889,776 (GRCm38) missense probably benign 0.26
R7400:Diaph1 UTSW 18 37,854,502 (GRCm38) missense probably damaging 1.00
R7497:Diaph1 UTSW 18 37,895,300 (GRCm38) critical splice acceptor site probably null
R7544:Diaph1 UTSW 18 37,893,269 (GRCm38) splice site probably null
R7703:Diaph1 UTSW 18 37,890,809 (GRCm38) missense unknown
R7834:Diaph1 UTSW 18 37,853,709 (GRCm38) critical splice acceptor site probably benign
R8073:Diaph1 UTSW 18 37,891,797 (GRCm38) missense unknown
R8378:Diaph1 UTSW 18 37,891,953 (GRCm38) missense unknown
R8847:Diaph1 UTSW 18 37,854,537 (GRCm38) missense possibly damaging 0.71
R8947:Diaph1 UTSW 18 37,853,701 (GRCm38) missense probably damaging 1.00
R8990:Diaph1 UTSW 18 37,855,804 (GRCm38) missense probably damaging 1.00
R9059:Diaph1 UTSW 18 37,889,745 (GRCm38) missense possibly damaging 0.53
R9189:Diaph1 UTSW 18 37,891,109 (GRCm38) missense unknown
R9297:Diaph1 UTSW 18 37,889,775 (GRCm38) missense probably benign 0.26
R9438:Diaph1 UTSW 18 37,893,390 (GRCm38) missense unknown
R9439:Diaph1 UTSW 18 37,896,359 (GRCm38) critical splice donor site probably null
R9538:Diaph1 UTSW 18 37,853,417 (GRCm38) missense probably damaging 1.00
R9596:Diaph1 UTSW 18 37,891,058 (GRCm38) missense unknown
R9752:Diaph1 UTSW 18 37,903,071 (GRCm38) missense unknown
R9762:Diaph1 UTSW 18 37,854,536 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTCCGACCAGCAGTGTGAG -3'
(R):5'- CTGGCTGAGTCAGAGCAGTTTG -3'

Sequencing Primer
(F):5'- ACCAGCAGTGTGAGCTCCAG -3'
(R):5'- TAAGGCCTGGAGCAGTCACTC -3'
Posted On 2016-11-09