Incidental Mutation 'R1537:Diaph1'
ID 169633
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 039576-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1537 (G1)
Quality Score 225
Status Not 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: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.7%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T A 3: 124,372,124 (GRCm39) H86L possibly damaging Het
4930519G04Rik A G 5: 115,008,278 (GRCm39) T31A probably benign Het
Ahcyl1 A G 3: 107,603,505 (GRCm39) F30S probably benign Het
Alox5ap G A 5: 149,201,993 (GRCm39) probably null Het
Amtn A G 5: 88,526,729 (GRCm39) S53G probably null Het
Arap3 A T 18: 38,122,737 (GRCm39) probably null Het
Ash1l T A 3: 88,979,783 (GRCm39) V2769E probably damaging Het
Atp8b1 C T 18: 64,678,335 (GRCm39) V854M probably damaging Het
Bhlha9 C T 11: 76,563,457 (GRCm39) S28L probably benign Het
Bltp2 T A 11: 78,180,169 (GRCm39) Y2150N probably damaging Het
Bmpr2 A G 1: 59,907,285 (GRCm39) T793A probably benign Het
Ccdc80 G A 16: 44,916,299 (GRCm39) A352T probably benign Het
Chst2 A T 9: 95,288,194 (GRCm39) F51I probably benign Het
Col14a1 A G 15: 55,244,163 (GRCm39) N412S unknown Het
Dclk2 T C 3: 86,713,491 (GRCm39) I451V probably damaging Het
Ddb2 A G 2: 91,065,234 (GRCm39) S64P probably benign Het
Dnai3 T C 3: 145,748,504 (GRCm39) E870G probably damaging Het
Dusp4 G T 8: 35,285,570 (GRCm39) R277L probably benign Het
Fmnl2 A G 2: 52,995,549 (GRCm39) E424G probably damaging Het
Garem1 A T 18: 21,301,931 (GRCm39) probably null Het
Gnpat A G 8: 125,597,555 (GRCm39) E39G probably damaging Het
Golgb1 A T 16: 36,719,150 (GRCm39) Q352L possibly damaging Het
Hdlbp T C 1: 93,345,096 (GRCm39) D803G probably benign Het
Hps1 A G 19: 42,748,143 (GRCm39) probably null Het
Ilvbl G A 10: 78,415,565 (GRCm39) R327H probably benign Het
Itpr3 A G 17: 27,333,121 (GRCm39) D1911G possibly damaging Het
Lmo7 T A 14: 102,166,700 (GRCm39) probably benign Het
Mcm10 G A 2: 5,003,591 (GRCm39) T542I possibly damaging Het
Med1 A G 11: 98,051,772 (GRCm39) V497A probably damaging Het
Mn1 G A 5: 111,602,646 (GRCm39) A1295T probably damaging Het
Myh7b A C 2: 155,473,707 (GRCm39) D1580A probably damaging Het
Naa20 A G 2: 145,754,438 (GRCm39) I101V probably benign Het
Nav3 T C 10: 109,702,846 (GRCm39) Y229C probably damaging Het
Obscn T C 11: 58,891,575 (GRCm39) R6986G unknown Het
Or51h7 G A 7: 102,591,547 (GRCm39) T79I probably damaging Het
Or8b4 A G 9: 37,830,570 (GRCm39) I211V probably benign Het
P2rx3 A G 2: 84,853,825 (GRCm39) probably null Het
Pcdhac2 G A 18: 37,279,539 (GRCm39) G840R possibly damaging Het
Pclo A G 5: 14,762,489 (GRCm39) N3654S unknown Het
Pcnx2 T A 8: 126,604,188 (GRCm39) E689D possibly damaging Het
Pds5a A G 5: 65,804,464 (GRCm39) S532P probably benign Het
Phf1 G A 17: 27,154,372 (GRCm39) probably null Het
Pkp4 G A 2: 59,045,147 (GRCm39) V41M probably damaging Het
Prlr T G 15: 10,328,364 (GRCm39) probably null Het
Prr12 G T 7: 44,678,366 (GRCm39) A1954D unknown Het
Prtg A G 9: 72,717,039 (GRCm39) T127A probably benign Het
Ptprh A G 7: 4,552,698 (GRCm39) L884P probably damaging Het
Rnf170 T A 8: 26,629,076 (GRCm39) D183E probably benign Het
Rrp12 A T 19: 41,875,242 (GRCm39) H339Q probably damaging Het
Rubcnl T G 14: 75,278,267 (GRCm39) S350R possibly damaging Het
Sgo2b T A 8: 64,379,536 (GRCm39) T1099S possibly damaging Het
Ska2 T C 11: 87,006,945 (GRCm39) S17P probably damaging Het
Slc38a2 A G 15: 96,591,034 (GRCm39) I243T possibly damaging Het
Sptan1 T A 2: 29,916,034 (GRCm39) D2007E possibly damaging Het
Taar5 T A 10: 23,846,620 (GRCm39) L6H probably benign Het
Tbata G T 10: 61,019,270 (GRCm39) probably null Het
Tent2 C T 13: 93,312,076 (GRCm39) G208D probably damaging Het
Tmem107 T C 11: 68,963,284 (GRCm39) S98P probably damaging Het
Tpst2 A G 5: 112,456,286 (GRCm39) D275G possibly damaging Het
Ttc28 G T 5: 111,433,184 (GRCm39) G2073W probably damaging Het
Ttc7 T C 17: 87,629,891 (GRCm39) V291A possibly damaging Het
Vps13b T A 15: 35,792,327 (GRCm39) N2198K possibly damaging Het
Wdr37 A T 13: 8,887,039 (GRCm39) D249E probably benign Het
Xirp2 G T 2: 67,340,357 (GRCm39) C866F probably damaging Het
Zfp990 A G 4: 145,263,566 (GRCm39) E188G possibly damaging Het
Zkscan2 A G 7: 123,099,064 (GRCm39) S43P possibly damaging Het
Zscan5b A G 7: 6,236,850 (GRCm39) R200G probably benign 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
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