Incidental Mutation 'R5349:Diaph1'
ID 422781
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 042928-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5349 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 37976654-38068529 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38024125 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 571 (V571A)
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 unknown
Transcript: ENSMUST00000025337
AA Change: V580A
SMART Domains Protein: ENSMUSP00000025337
Gene: ENSMUSG00000024456
AA Change: V580A

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 unknown
Transcript: ENSMUST00000080033
AA Change: V571A
SMART Domains Protein: ENSMUSP00000078942
Gene: ENSMUSG00000024456
AA Change: V571A

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 unknown
Transcript: ENSMUST00000115629
AA Change: V536A
SMART Domains Protein: ENSMUSP00000111292
Gene: ENSMUSG00000024456
AA Change: V536A

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 unknown
Transcript: ENSMUST00000115631
AA Change: V536A
SMART Domains Protein: ENSMUSP00000111294
Gene: ENSMUSG00000024456
AA Change: V536A

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 unknown
Transcript: ENSMUST00000115634
AA Change: V571A
SMART Domains Protein: ENSMUSP00000111297
Gene: ENSMUSG00000024456
AA Change: V571A

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.2%
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn3 T C 19: 4,917,986 (GRCm39) E327G possibly damaging Het
Cd209d T G 8: 3,928,320 (GRCm39) M22L probably benign Het
Chrna2 T C 14: 66,380,956 (GRCm39) V75A probably damaging Het
Cnst A G 1: 179,450,462 (GRCm39) E642G possibly damaging Het
Dip2c C A 13: 9,672,689 (GRCm39) H1032N probably damaging Het
Eif4a3l1 A T 6: 136,306,694 (GRCm39) D385V probably damaging Het
Fbxl3 T C 14: 103,333,012 (GRCm39) probably benign Het
Glb1 T C 9: 114,263,529 (GRCm39) probably null Het
Gm8220 T C 14: 44,525,634 (GRCm39) I101T probably benign Het
Grin2b A G 6: 136,021,281 (GRCm39) C7R possibly damaging Het
Myo15a T C 11: 60,384,409 (GRCm39) I516T probably damaging Het
Nr1i3 A G 1: 171,042,641 (GRCm39) D89G possibly damaging Het
Ogfod1 T G 8: 94,781,876 (GRCm39) probably benign Het
Or4k2 G T 14: 50,424,230 (GRCm39) S148* probably null Het
Pard3 G T 8: 128,142,224 (GRCm39) D930Y probably damaging Het
Pde7b C T 10: 20,494,932 (GRCm39) C9Y probably damaging Het
Pilra T A 5: 137,829,488 (GRCm39) D192V probably damaging Het
Ptprj A G 2: 90,301,605 (GRCm39) S176P probably benign Het
Slc4a2 T C 5: 24,640,633 (GRCm39) V685A possibly damaging Het
Srxn1 G A 2: 151,947,799 (GRCm39) V66M probably damaging Het
Stox2 A G 8: 47,740,951 (GRCm39) F44L possibly damaging Het
Tlr11 T C 14: 50,598,337 (GRCm39) F108L probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Ttn A C 2: 76,638,450 (GRCm39) I13943M probably damaging Het
Wdfy4 T C 14: 32,710,856 (GRCm39) D2577G probably damaging Het
Zyg11a A T 4: 108,040,929 (GRCm39) F675I 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
R1535: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
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'- AACACTTCCAGGCAAAGGAG -3'
(R):5'- GCTGCCTGCACATACTTCAG -3'

Sequencing Primer
(F):5'- TGTACCTCCAGGCAAAGGG -3'
(R):5'- AGAGTCATGTGATCTTGTGACCACTC -3'
Posted On 2016-08-04