Incidental Mutation 'R4077:Diaph1'
ID 316653
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 041622-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4077 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 37976654-38068529 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37986636 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 1116 (E1116D)
Ref Sequence ENSEMBL: ENSMUSP00000078942 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025337] [ENSMUST00000080033] [ENSMUST00000115629] [ENSMUST00000115631] [ENSMUST00000115634]
AlphaFold O08808
Predicted Effect possibly damaging
Transcript: ENSMUST00000025337
AA Change: E1125D

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000025337
Gene: ENSMUSG00000024456
AA Change: E1125D

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 possibly damaging
Transcript: ENSMUST00000080033
AA Change: E1116D

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000078942
Gene: ENSMUSG00000024456
AA Change: E1116D

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 possibly damaging
Transcript: ENSMUST00000115629
AA Change: E1081D

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000111292
Gene: ENSMUSG00000024456
AA Change: E1081D

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 possibly damaging
Transcript: ENSMUST00000115631
AA Change: E1081D

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000111294
Gene: ENSMUSG00000024456
AA Change: E1081D

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 possibly damaging
Transcript: ENSMUST00000115634
AA Change: E1116D

PolyPhen 2 Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000111297
Gene: ENSMUSG00000024456
AA Change: E1116D

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
Meta Mutation Damage Score 0.0827 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 99% (81/82)
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
Abhd12 T A 2: 150,690,379 (GRCm39) probably null Het
Adam33 T C 2: 130,905,444 (GRCm39) probably benign Het
Adrm1b A C 3: 92,336,195 (GRCm39) probably benign Het
Akap8 C T 17: 32,531,272 (GRCm39) R380Q probably damaging Het
Arhgef12 T C 9: 42,886,588 (GRCm39) M1131V probably damaging Het
Atrn T C 2: 130,806,850 (GRCm39) probably null Het
Btaf1 A G 19: 36,963,879 (GRCm39) T817A probably benign Het
C3 C T 17: 57,512,303 (GRCm39) D1542N possibly damaging Het
Cadm3 A G 1: 173,169,236 (GRCm39) V293A probably benign Het
Cdk11b C T 4: 155,724,204 (GRCm39) probably benign Het
Cdnf A G 2: 3,522,060 (GRCm39) Y84C probably damaging Het
Chdh T C 14: 29,757,297 (GRCm39) S407P probably damaging Het
Cmtr1 C A 17: 29,904,949 (GRCm39) T300K probably damaging Het
Dennd2d A T 3: 106,389,939 (GRCm39) probably benign Het
Eif1ad3 A G 12: 87,843,401 (GRCm39) K16R unknown Het
Eif1ad3 A T 12: 87,843,710 (GRCm39) D119V possibly damaging Het
Enpp1 A G 10: 24,544,905 (GRCm39) probably null Het
Erbb4 T C 1: 68,079,496 (GRCm39) T1195A probably benign Het
Ermard T A 17: 15,273,638 (GRCm39) S408T probably benign Het
Etl4 A T 2: 20,812,772 (GRCm39) R1442S probably damaging Het
F13b T A 1: 139,429,508 (GRCm39) F9I unknown Het
Fnbp4 C T 2: 90,588,821 (GRCm39) R531* probably null Het
Gdf6 A G 4: 9,844,776 (GRCm39) Y100C probably damaging Het
Gpr3 T C 4: 132,938,226 (GRCm39) T149A probably damaging Het
Grm8 T C 6: 27,760,208 (GRCm39) H374R probably benign Het
Hbs1l T C 10: 21,228,501 (GRCm39) V493A probably damaging Het
Hgs A G 11: 120,368,202 (GRCm39) K277E probably damaging Het
Hnrnpul1 C T 7: 25,426,300 (GRCm39) R517Q probably damaging Het
Hoxa11 A T 6: 52,222,504 (GRCm39) Y66N probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Igdcc4 T A 9: 65,039,047 (GRCm39) L944Q probably damaging Het
Ighv3-1 C A 12: 113,928,107 (GRCm39) S84I probably damaging Het
Iqgap2 T C 13: 95,794,375 (GRCm39) D1199G probably damaging Het
Kcnk10 A T 12: 98,401,205 (GRCm39) M490K probably benign Het
Kirrel1 A G 3: 86,992,387 (GRCm39) probably null Het
Lias A T 5: 65,552,768 (GRCm39) T124S probably benign Het
Lrig3 A C 10: 125,845,656 (GRCm39) E695A probably damaging Het
Lrpap1 A G 5: 35,253,381 (GRCm39) I261T possibly damaging Het
Lrrc37a T A 11: 103,388,808 (GRCm39) T2206S unknown Het
Macf1 T A 4: 123,365,884 (GRCm39) Q2959L probably benign Het
Mis12 A G 11: 70,916,134 (GRCm39) T56A probably benign Het
Or10ag56 T A 2: 87,139,208 (GRCm39) M25K probably null Het
Or1l4 T A 2: 37,092,024 (GRCm39) I257N possibly damaging Het
Or4k41 A G 2: 111,279,848 (GRCm39) D121G probably damaging Het
Or5b99 T C 19: 12,977,235 (GRCm39) V295A probably damaging Het
Otof A T 5: 30,576,850 (GRCm39) L134Q possibly damaging Het
Pds5b T A 5: 150,717,824 (GRCm39) V1155E possibly damaging Het
Pdss2 A T 10: 43,278,518 (GRCm39) M342L probably benign Het
Phyhipl C T 10: 70,404,903 (GRCm39) V57I probably damaging Het
Plekha5 T A 6: 140,501,647 (GRCm39) probably null Het
Pnck A T X: 72,701,761 (GRCm39) V93E probably damaging Het
Proser1 A G 3: 53,385,962 (GRCm39) T615A probably damaging Het
Ptprk G A 10: 28,139,508 (GRCm39) V78I probably benign Het
Ptprv A G 1: 135,038,168 (GRCm39) noncoding transcript Het
Ranbp3l A G 15: 9,060,838 (GRCm39) N233S probably damaging Het
Rassf2 G A 2: 131,854,522 (GRCm39) P7S probably benign Het
Sart1 A T 19: 5,432,771 (GRCm39) L521Q possibly damaging Het
Scgb1b21 T A 7: 33,227,118 (GRCm39) noncoding transcript Het
Scyl2 A T 10: 89,476,458 (GRCm39) M889K probably benign Het
Secisbp2l A G 2: 125,593,785 (GRCm39) probably benign Het
Svil A G 18: 5,063,522 (GRCm39) E931G probably benign Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Tdrd1 A G 19: 56,819,505 (GRCm39) M2V probably benign Het
Tjp2 A T 19: 24,086,182 (GRCm39) V780E possibly damaging Het
Tram1 A G 1: 13,636,599 (GRCm39) V358A probably benign Het
Unc13c C T 9: 73,643,821 (GRCm39) W1214* probably null Het
Vps13b T C 15: 35,455,274 (GRCm39) C728R probably damaging Het
Wwox A G 8: 115,166,481 (GRCm39) probably benign Het
Zbtb41 G A 1: 139,357,064 (GRCm39) V440I probably benign Het
Zfp777 T C 6: 48,002,456 (GRCm39) S589G probably benign Het
Zfp955a A G 17: 33,460,675 (GRCm39) Y486H 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
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
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'- TCATGTCGATGAGCTGCTCG -3'
(R):5'- ATGATTCTCTGACCTGGGCC -3'

Sequencing Primer
(F):5'- ATGAGCTGCTCGCGCTTC -3'
(R):5'- TAAAGGTGTGTGCCATCACC -3'
Posted On 2015-05-15