Incidental Mutation 'R1535:Diaph1'
ID 166929
Institutional Source Beutler Lab
Gene Symbol Diaph1
Ensembl Gene ENSMUSG00000024456
Gene Name diaphanous related formin 1
Synonyms p140mDia, Dia1, mDia1, D18Wsu154e, Diap1, Drf1
MMRRC Submission 039574-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1535 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 37976654-38068529 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 38029146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 null
Transcript: ENSMUST00000025337
SMART Domains Protein: ENSMUSP00000025337
Gene: ENSMUSG00000024456

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 null
Transcript: ENSMUST00000080033
SMART Domains Protein: ENSMUSP00000078942
Gene: ENSMUSG00000024456

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 null
Transcript: ENSMUST00000115629
SMART Domains Protein: ENSMUSP00000111292
Gene: ENSMUSG00000024456

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 null
Transcript: ENSMUST00000115631
SMART Domains Protein: ENSMUSP00000111294
Gene: ENSMUSG00000024456

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 null
Transcript: ENSMUST00000115634
SMART Domains Protein: ENSMUSP00000111297
Gene: ENSMUSG00000024456

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: ENSMUST00000129688
Meta Mutation Damage Score 0.9584 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.2%
Validation Efficiency 100% (75/75)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik T C 1: 120,099,203 (GRCm39) S99P possibly damaging Het
Abca16 T A 7: 120,139,928 (GRCm39) I1530N probably benign Het
Abcc9 T G 6: 142,610,361 (GRCm39) Q601P probably damaging Het
Acap3 A G 4: 155,980,631 (GRCm39) probably benign Het
Adamts16 A T 13: 70,939,913 (GRCm39) probably null Het
Alpk2 G C 18: 65,483,275 (GRCm39) S244R probably benign Het
Aoc1l1 T C 6: 48,952,398 (GRCm39) F108L probably damaging Het
Atp8b1 C T 18: 64,678,335 (GRCm39) V854M probably damaging Het
Bend5 C A 4: 111,316,960 (GRCm39) D374E probably benign Het
Catsperg2 T C 7: 29,397,671 (GRCm39) D1014G possibly damaging Het
Ccer2 G T 7: 28,456,822 (GRCm39) G189* probably null Het
Ces2h A G 8: 105,741,118 (GRCm39) T37A probably benign Het
Cfap68 C T 9: 50,675,307 (GRCm39) R40Q probably damaging Het
Cmah T C 13: 24,623,203 (GRCm39) F213L probably damaging Het
Cntn2 T C 1: 132,453,122 (GRCm39) E390G probably benign Het
Coq7 C T 7: 118,128,897 (GRCm39) R46Q possibly damaging Het
Cpb1 T A 3: 20,320,451 (GRCm39) D136V probably benign Het
Cxcr2 T C 1: 74,198,217 (GRCm39) L237P probably damaging Het
Daam1 T C 12: 71,998,692 (GRCm39) L549P unknown Het
Dis3 G T 14: 99,316,862 (GRCm39) Q825K probably damaging Het
Dnah11 C T 12: 117,982,465 (GRCm39) R2568Q probably damaging Het
Dnah12 A T 14: 26,538,279 (GRCm39) R2312S possibly damaging Het
Dock9 C T 14: 121,783,476 (GRCm39) E2041K probably damaging Het
Eci1 A G 17: 24,658,064 (GRCm39) E282G probably benign Het
Egf T A 3: 129,484,427 (GRCm39) T464S probably benign Het
Eif4g3 C T 4: 137,824,613 (GRCm39) P97S probably damaging Het
Emsy A G 7: 98,242,944 (GRCm39) V1065A possibly damaging Het
Ep400 G T 5: 110,856,032 (GRCm39) probably benign Het
Fam13a A C 6: 58,916,332 (GRCm39) I607S probably damaging Het
Fam241b A G 10: 61,944,728 (GRCm39) S113P probably damaging Het
Fbxl21 A T 13: 56,671,340 (GRCm39) M1L probably benign Het
Fnip2 C A 3: 79,389,072 (GRCm39) C553F probably damaging Het
Frmd3 G T 4: 73,931,995 (GRCm39) probably benign Het
Grm4 G A 17: 27,653,775 (GRCm39) S470L probably benign Het
Gucy2e T A 11: 69,117,070 (GRCm39) I784F probably damaging Het
H1f10 T C 6: 87,958,130 (GRCm39) Y70C probably damaging Het
Hmcn2 A T 2: 31,310,419 (GRCm39) T3338S possibly damaging Het
Idh1 C T 1: 65,207,697 (GRCm39) G161R probably damaging Het
Idi1 T C 13: 8,936,945 (GRCm39) probably benign Het
Idi2l A T 13: 8,990,680 (GRCm39) probably benign Het
Kcnq2 C T 2: 180,776,618 (GRCm39) G90S probably damaging Het
Klhl29 A G 12: 5,134,486 (GRCm39) Y642H probably damaging Het
Lmtk3 T A 7: 45,443,994 (GRCm39) probably benign Het
Macf1 A T 4: 123,334,486 (GRCm39) F4420I probably benign Het
Me1 A G 9: 86,469,096 (GRCm39) S470P probably damaging Het
Mfsd2b A G 12: 4,920,605 (GRCm39) S71P probably damaging Het
Mfsd3 T C 15: 76,586,979 (GRCm39) L273P probably damaging Het
Mical1 A G 10: 41,361,207 (GRCm39) K757R possibly damaging Het
Myh9 A T 15: 77,662,013 (GRCm39) V782D probably damaging Het
Nab2 C G 10: 127,500,916 (GRCm39) E59Q probably damaging Het
Nfyc A T 4: 120,618,921 (GRCm39) N244K probably damaging Het
Nupr2 A G 5: 129,937,672 (GRCm39) I80M probably damaging Het
Or4c15b T C 2: 89,113,401 (GRCm39) I46M probably benign Het
Or51f1d A G 7: 102,700,576 (GRCm39) T24A probably benign Het
Or5a1 A G 19: 12,097,696 (GRCm39) C115R probably damaging Het
Pkn3 A G 2: 29,977,065 (GRCm39) T602A probably benign Het
Prrc2b T A 2: 32,094,301 (GRCm39) V561D probably benign Het
Psd2 T A 18: 36,138,843 (GRCm39) V489E probably benign Het
Rasal2 T C 1: 157,057,629 (GRCm39) T181A probably benign Het
Serpinb13 T C 1: 106,909,886 (GRCm39) M1T probably null Het
Sgsm1 A T 5: 113,411,135 (GRCm39) S864T possibly damaging Het
Slc5a10 C A 11: 61,564,767 (GRCm39) G404V possibly damaging Het
Slc6a1 G T 6: 114,284,731 (GRCm39) G263V probably damaging Het
Son A G 16: 91,456,622 (GRCm39) K1790E probably damaging Het
Spata31e5 T C 1: 28,816,505 (GRCm39) E509G probably damaging Het
Syde2 A G 3: 145,708,176 (GRCm39) probably benign Het
Tmem126a T C 7: 90,102,026 (GRCm39) I58V probably benign Het
Vmn2r8 T C 5: 108,950,040 (GRCm39) Y269C probably damaging Het
Wdr87-ps C T 7: 29,229,004 (GRCm39) noncoding transcript Het
Yeats2 T A 16: 20,008,115 (GRCm39) S416T probably damaging Het
Zfp40 A T 17: 23,394,843 (GRCm39) H513Q probably damaging Het
Other mutations in Diaph1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00518:Diaph1 APN 18 38,026,401 (GRCm39) critical splice donor site probably null
IGL01432:Diaph1 APN 18 38,030,557 (GRCm39) missense unknown
IGL01646:Diaph1 APN 18 38,026,469 (GRCm39) critical splice acceptor site probably null
IGL01676:Diaph1 APN 18 37,989,241 (GRCm39) nonsense probably null
IGL01731:Diaph1 APN 18 37,986,762 (GRCm39) critical splice acceptor site probably benign
IGL01921:Diaph1 APN 18 37,989,261 (GRCm39) missense possibly damaging 0.73
IGL02200:Diaph1 APN 18 38,023,735 (GRCm39) missense unknown
IGL02258:Diaph1 APN 18 37,986,383 (GRCm39) missense probably damaging 0.99
IGL02325:Diaph1 APN 18 37,986,653 (GRCm39) missense probably damaging 1.00
IGL03304:Diaph1 APN 18 37,987,626 (GRCm39) missense possibly damaging 0.47
albatross UTSW 18 37,986,732 (GRCm39) nonsense probably null
cucamonga UTSW 18 38,029,146 (GRCm39) critical splice donor site probably null
damselfly UTSW 18 38,030,603 (GRCm39) nonsense probably null
devastator UTSW 18 38,029,146 (GRCm39) critical splice donor site probably null
fishnets UTSW 18 38,028,353 (GRCm39) critical splice acceptor site probably null
Guangzhou UTSW 18 38,029,146 (GRCm39) critical splice donor site probably null
saran UTSW 18 37,988,857 (GRCm39) missense probably damaging 1.00
seethrough UTSW 18 38,022,822 (GRCm39) missense probably damaging 1.00
sheer UTSW 18 38,029,146 (GRCm39) critical splice donor site probably benign
R0137:Diaph1 UTSW 18 38,024,902 (GRCm39) missense unknown
R0446:Diaph1 UTSW 18 37,986,643 (GRCm39) missense possibly damaging 0.94
R0523:Diaph1 UTSW 18 37,989,553 (GRCm39) missense possibly damaging 0.56
R1433:Diaph1 UTSW 18 38,038,187 (GRCm39) missense unknown
R1532:Diaph1 UTSW 18 38,029,146 (GRCm39) critical splice donor site probably null
R1534:Diaph1 UTSW 18 38,029,146 (GRCm39) critical splice donor site probably null
R1536:Diaph1 UTSW 18 38,029,146 (GRCm39) critical splice donor site probably null
R1537:Diaph1 UTSW 18 38,029,146 (GRCm39) critical splice donor site probably null
R1611:Diaph1 UTSW 18 38,033,755 (GRCm39) missense unknown
R1756:Diaph1 UTSW 18 37,987,626 (GRCm39) missense possibly damaging 0.47
R1771:Diaph1 UTSW 18 38,024,071 (GRCm39) missense unknown
R1812:Diaph1 UTSW 18 38,024,071 (GRCm39) missense unknown
R2121:Diaph1 UTSW 18 38,029,442 (GRCm39) missense unknown
R3710:Diaph1 UTSW 18 37,978,537 (GRCm39) missense probably damaging 1.00
R3891:Diaph1 UTSW 18 38,033,691 (GRCm39) splice site probably benign
R3892:Diaph1 UTSW 18 38,033,691 (GRCm39) splice site probably benign
R4077:Diaph1 UTSW 18 37,986,636 (GRCm39) missense possibly damaging 0.68
R4079:Diaph1 UTSW 18 37,986,636 (GRCm39) missense possibly damaging 0.68
R4771:Diaph1 UTSW 18 37,986,604 (GRCm39) missense probably damaging 1.00
R4815:Diaph1 UTSW 18 38,028,256 (GRCm39) missense unknown
R5242:Diaph1 UTSW 18 37,984,688 (GRCm39) missense probably damaging 1.00
R5294:Diaph1 UTSW 18 38,030,633 (GRCm39) missense unknown
R5294:Diaph1 UTSW 18 38,030,603 (GRCm39) nonsense probably null
R5349:Diaph1 UTSW 18 38,024,125 (GRCm39) missense unknown
R5427:Diaph1 UTSW 18 38,023,648 (GRCm39) missense unknown
R5623:Diaph1 UTSW 18 38,029,146 (GRCm39) critical splice donor site probably benign
R5677:Diaph1 UTSW 18 37,989,004 (GRCm39) missense probably damaging 1.00
R5730:Diaph1 UTSW 18 38,036,829 (GRCm39) missense unknown
R5767:Diaph1 UTSW 18 37,986,408 (GRCm39) missense probably damaging 1.00
R5925:Diaph1 UTSW 18 38,024,988 (GRCm39) missense unknown
R6151:Diaph1 UTSW 18 37,986,406 (GRCm39) missense probably damaging 1.00
R6823:Diaph1 UTSW 18 38,009,436 (GRCm39) splice site probably null
R6876:Diaph1 UTSW 18 38,029,426 (GRCm39) missense unknown
R6925:Diaph1 UTSW 18 37,986,732 (GRCm39) nonsense probably null
R6983:Diaph1 UTSW 18 38,022,822 (GRCm39) missense probably damaging 1.00
R7073:Diaph1 UTSW 18 38,022,867 (GRCm39) critical splice acceptor site probably null
R7248:Diaph1 UTSW 18 38,022,829 (GRCm39) missense probably benign 0.26
R7400:Diaph1 UTSW 18 37,987,555 (GRCm39) missense probably damaging 1.00
R7497:Diaph1 UTSW 18 38,028,353 (GRCm39) critical splice acceptor site probably null
R7544:Diaph1 UTSW 18 38,026,322 (GRCm39) splice site probably null
R7703:Diaph1 UTSW 18 38,023,862 (GRCm39) missense unknown
R7834:Diaph1 UTSW 18 37,986,762 (GRCm39) critical splice acceptor site probably benign
R8073:Diaph1 UTSW 18 38,024,850 (GRCm39) missense unknown
R8378:Diaph1 UTSW 18 38,025,006 (GRCm39) missense unknown
R8847:Diaph1 UTSW 18 37,987,590 (GRCm39) missense possibly damaging 0.71
R8947:Diaph1 UTSW 18 37,986,754 (GRCm39) missense probably damaging 1.00
R8990:Diaph1 UTSW 18 37,988,857 (GRCm39) missense probably damaging 1.00
R9059:Diaph1 UTSW 18 38,022,798 (GRCm39) missense possibly damaging 0.53
R9189:Diaph1 UTSW 18 38,024,162 (GRCm39) missense unknown
R9297:Diaph1 UTSW 18 38,022,828 (GRCm39) missense probably benign 0.26
R9438:Diaph1 UTSW 18 38,026,443 (GRCm39) missense unknown
R9439:Diaph1 UTSW 18 38,029,412 (GRCm39) critical splice donor site probably null
R9538:Diaph1 UTSW 18 37,986,470 (GRCm39) missense probably damaging 1.00
R9596:Diaph1 UTSW 18 38,024,111 (GRCm39) missense unknown
R9752:Diaph1 UTSW 18 38,036,124 (GRCm39) missense unknown
R9762:Diaph1 UTSW 18 37,987,589 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTTGAATGACTGCCAGGGTGATG -3'
(R):5'- ACCTTTCCTTAGAGAGGCTGGACTG -3'

Sequencing Primer
(F):5'- gcatcaaactcagaagagatcc -3'
(R):5'- CAGCCCTGATCATCTCTGAG -3'
Posted On 2014-04-13