Incidental Mutation 'R7073:Diaph1'
ID 549070
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 045169-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7073 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 37976654-38068529 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to G at 38022867 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000078942 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025337] [ENSMUST00000080033] [ENSMUST00000115629] [ENSMUST00000115631] [ENSMUST00000115634]
AlphaFold O08808
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T G 13: 81,709,593 (GRCm39) E1133D probably damaging Het
Ankrd13b A T 11: 77,363,335 (GRCm39) D505E probably benign Het
Ano1 C T 7: 144,192,289 (GRCm39) E361K probably damaging Het
Arap3 T A 18: 38,107,495 (GRCm39) K1341* probably null Het
Arhgef17 A C 7: 100,579,198 (GRCm39) Y583* probably null Het
Ash1l G A 3: 88,892,647 (GRCm39) E1509K probably damaging Het
B430305J03Rik T G 3: 61,271,681 (GRCm39) R21S unknown Het
Bbof1 A G 12: 84,473,609 (GRCm39) E313G probably damaging Het
Catsperb C T 12: 101,475,497 (GRCm39) T347I probably benign Het
Ccdc24 G T 4: 117,729,201 (GRCm39) A92D probably damaging Het
Ccdc63 T C 5: 122,249,073 (GRCm39) T419A probably benign Het
Ccdc7a C T 8: 129,618,866 (GRCm39) V893I possibly damaging Het
Ccdc88b G T 19: 6,831,330 (GRCm39) D537E probably benign Het
Cd276 T C 9: 58,444,615 (GRCm39) S119G probably damaging Het
Cdkn3 T C 14: 47,004,647 (GRCm39) Y70H possibly damaging Het
Cdo1 G A 18: 46,861,266 (GRCm39) probably benign Het
Cdr2 A T 7: 120,581,247 (GRCm39) F10Y probably damaging Het
Cep290 A T 10: 100,374,865 (GRCm39) K1370N possibly damaging Het
Crb1 T A 1: 139,176,049 (GRCm39) I645F probably damaging Het
Cul7 T C 17: 46,969,657 (GRCm39) W975R probably damaging Het
Ddx39b A C 17: 35,471,826 (GRCm39) E324A probably benign Het
Dnah2 G A 11: 69,321,318 (GRCm39) R3917* probably null Het
Dnph1 T A 17: 46,807,815 (GRCm39) L27Q probably damaging Het
Duox2 A G 2: 122,119,788 (GRCm39) F880S probably damaging Het
Ell2 C A 13: 75,910,006 (GRCm39) L119M probably damaging Het
Enpep A T 3: 129,106,319 (GRCm39) Y302* probably null Het
Ergic2 G T 6: 148,096,707 (GRCm39) H186Q probably damaging Het
Fam83b T C 9: 76,453,031 (GRCm39) D12G probably benign Het
Fbxw16 A T 9: 109,270,123 (GRCm39) V206D probably damaging Het
Fhod1 A T 8: 106,063,771 (GRCm39) V278D unknown Het
Gba2 G C 4: 43,573,753 (GRCm39) Q180E probably damaging Het
Grhl3 G A 4: 135,300,723 (GRCm39) L5F probably benign Het
H2-T15 A T 17: 36,369,235 (GRCm39) C7S unknown Het
Ifit1bl1 C T 19: 34,576,667 (GRCm39) probably null Het
Ift57 A G 16: 49,584,230 (GRCm39) T413A probably benign Het
Itga2 A G 13: 114,996,149 (GRCm39) F714S probably damaging Het
Jmy A G 13: 93,577,841 (GRCm39) S776P probably benign Het
Kbtbd8 G A 6: 95,098,814 (GRCm39) A108T probably damaging Het
Kpna6 G A 4: 129,548,139 (GRCm39) A230V probably damaging Het
Lrfn1 C T 7: 28,159,397 (GRCm39) L439F possibly damaging Het
Lrrc1 T A 9: 77,375,847 (GRCm39) I147F probably benign Het
Lrrc7 C T 3: 157,832,884 (GRCm39) G1425R probably damaging Het
Madd T A 2: 90,992,854 (GRCm39) I1022F probably damaging Het
Map2k2 A T 10: 80,942,017 (GRCm39) T13S probably benign Het
Mdc1 G A 17: 36,164,960 (GRCm39) V1459I probably benign Het
Mdh1b G A 1: 63,760,719 (GRCm39) T114M probably damaging Het
Mfsd2a T C 4: 122,845,088 (GRCm39) I208V possibly damaging Het
Mmrn1 T A 6: 60,965,411 (GRCm39) D1147E probably damaging Het
Nbeal2 T A 9: 110,455,177 (GRCm39) I2574F probably damaging Het
Nr1d1 T G 11: 98,662,892 (GRCm39) S34R probably damaging Het
Nr3c1 A T 18: 39,619,449 (GRCm39) D279E probably benign Het
Nrde2 T C 12: 100,098,747 (GRCm39) D640G probably benign Het
Odf4 A G 11: 68,817,514 (GRCm39) L58P probably damaging Het
Or4k41 A T 2: 111,279,631 (GRCm39) I49F probably benign Het
Or4p22 A T 2: 88,317,651 (GRCm39) I192F probably benign Het
Otud6b A C 4: 14,811,743 (GRCm39) M300R probably damaging Het
Pamr1 T A 2: 102,471,280 (GRCm39) D534E probably benign Het
Pcdh7 T A 5: 57,878,299 (GRCm39) V618E probably benign Het
Pcgf6 A C 19: 47,031,226 (GRCm39) N266K possibly damaging Het
Plcz1 A T 6: 139,968,849 (GRCm39) Y196* probably null Het
Plxna1 A T 6: 89,334,311 (GRCm39) L106Q probably damaging Het
Qrich2 G A 11: 116,337,701 (GRCm39) A184V probably damaging Het
Rimkla A G 4: 119,325,275 (GRCm39) L378S probably benign Het
Rufy1 G T 11: 50,295,290 (GRCm39) H472Q probably benign Het
Samd7 T A 3: 30,810,631 (GRCm39) M216K probably benign Het
Samd9l A T 6: 3,375,856 (GRCm39) Y468* probably null Het
Scn2a T G 2: 65,558,787 (GRCm39) L1194R probably benign Het
Sgo2a T A 1: 58,056,944 (GRCm39) S1043T possibly damaging Het
Slc6a17 G T 3: 107,378,755 (GRCm39) H642Q probably benign Het
Smox C T 2: 131,364,031 (GRCm39) A45V possibly damaging Het
St6galnac3 T A 3: 153,117,274 (GRCm39) T150S possibly damaging Het
Strip2 T A 6: 29,941,911 (GRCm39) I627N possibly damaging Het
Sv2c A T 13: 96,224,758 (GRCm39) C184S probably damaging Het
Tm7sf2 A T 19: 6,116,527 (GRCm39) probably null Het
Ttc28 T C 5: 111,371,282 (GRCm39) I608T possibly damaging Het
Vmn1r183 T G 7: 23,754,926 (GRCm39) L243R probably damaging Het
Vmn1r68 T C 7: 10,261,778 (GRCm39) T107A probably benign Het
Vnn3 G A 10: 23,740,311 (GRCm39) G205R probably damaging Het
Zfp516 T A 18: 83,006,325 (GRCm39) probably null Het
Zpbp2 A G 11: 98,443,335 (GRCm39) D56G 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
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
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'- AAGGGACATGGTAAGCTCTCC -3'
(R):5'- TCTGAAACCAGGAGATTTGGGG -3'

Sequencing Primer
(F):5'- ATGGTAAGCTCTCCATGTCTG -3'
(R):5'- CTGATTACCAGTGGACAGACC -3'
Posted On 2019-05-15