Incidental Mutation 'IGL02527:Diaph3'
ID 297135
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Diaph3
Ensembl Gene ENSMUSG00000022021
Gene Name diaphanous related formin 3
Synonyms mDia2, Drf3, p134MDia2, 4930417P13Rik, Diap3
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02527
Quality Score
Status
Chromosome 14
Chromosomal Location 86892803-87378671 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87047795 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 1026 (K1026R)
Ref Sequence ENSEMBL: ENSMUSP00000022599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022599] [ENSMUST00000168889]
AlphaFold Q9Z207
Predicted Effect possibly damaging
Transcript: ENSMUST00000022599
AA Change: K1026R

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000022599
Gene: ENSMUSG00000022021
AA Change: K1026R

DomainStartEndE-ValueType
low complexity region 76 86 N/A INTRINSIC
Drf_GBD 93 276 7.94e-61 SMART
Drf_FH3 281 467 5.74e-67 SMART
coiled coil region 485 533 N/A INTRINSIC
SCOP:d1jvr__ 545 589 1e-3 SMART
FH2 615 1056 3.88e-180 SMART
Blast:FH2 1087 1160 2e-27 BLAST
low complexity region 1163 1171 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168889
AA Change: K1026R

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000129420
Gene: ENSMUSG00000022021
AA Change: K1026R

DomainStartEndE-ValueType
low complexity region 76 86 N/A INTRINSIC
Drf_GBD 93 276 7.94e-61 SMART
Drf_FH3 281 467 5.74e-67 SMART
coiled coil region 485 533 N/A INTRINSIC
SCOP:d1jvr__ 545 589 1e-3 SMART
FH2 615 1056 3.2e-181 SMART
Blast:FH2 1087 1160 2e-27 BLAST
low complexity region 1163 1171 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226492
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227666
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the diaphanous subfamily of the formin family. Members of this family are involved in actin remodeling and regulate cell movement and adhesion. Mutations in this gene are associated with autosomal dominant auditory neuropathy 1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
PHENOTYPE: Mice homozygous for disruption of this gene display embryonic mortality and abnormal cytokinesis of RBC. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,638,392 (GRCm39) V868A probably damaging Het
Adam25 T A 8: 41,206,785 (GRCm39) I17K possibly damaging Het
Arap2 A T 5: 62,906,650 (GRCm39) M123K probably benign Het
Asic3 A G 5: 24,621,275 (GRCm39) M332V probably benign Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Cand1 A T 10: 119,042,712 (GRCm39) M1126K probably damaging Het
Capn3 A G 2: 120,334,966 (GRCm39) T818A probably damaging Het
Cda G A 4: 138,070,832 (GRCm39) Q104* probably null Het
Cfhr4 T C 1: 139,680,783 (GRCm39) N245S probably damaging Het
Cpeb1 T C 7: 81,009,635 (GRCm39) D234G probably damaging Het
Cpq A G 15: 33,302,509 (GRCm39) Y220C probably damaging Het
Dpep1 T C 8: 123,925,487 (GRCm39) F47L probably damaging Het
Dppa4 G T 16: 48,109,456 (GRCm39) R66L possibly damaging Het
Elac1 C A 18: 73,880,304 (GRCm39) E31* probably null Het
Fggy A G 4: 95,585,306 (GRCm39) K62E probably damaging Het
Ficd T A 5: 113,875,027 (GRCm39) M32K probably benign Het
Foxd4 A G 19: 24,877,178 (GRCm39) S341P probably benign Het
Gnb4 G T 3: 32,644,015 (GRCm39) T181K probably benign Het
Grin2b T A 6: 135,900,389 (GRCm39) Y164F probably damaging Het
Hmmr A G 11: 40,598,932 (GRCm39) L564P probably damaging Het
Hsd17b4 G A 18: 50,293,231 (GRCm39) V257I probably benign Het
Itga10 C A 3: 96,562,940 (GRCm39) probably benign Het
Kcnk18 T C 19: 59,223,707 (GRCm39) V284A probably damaging Het
Klf11 T A 12: 24,705,322 (GRCm39) S259T probably benign Het
Kmt2d C T 15: 98,739,628 (GRCm39) probably benign Het
Manea A G 4: 26,336,619 (GRCm39) probably null Het
Mybl1 T C 1: 9,760,373 (GRCm39) H75R probably damaging Het
Neb G A 2: 52,153,959 (GRCm39) T2384M probably damaging Het
Neb A G 2: 52,039,225 (GRCm39) I6938T probably benign Het
Ntrk3 T C 7: 78,101,697 (GRCm39) D412G probably benign Het
Olah T C 2: 3,343,979 (GRCm39) E211G probably damaging Het
Or10ag2 T C 2: 87,249,181 (GRCm39) L261S probably damaging Het
Paxbp1 A T 16: 90,834,161 (GRCm39) N208K possibly damaging Het
Prrc1 T A 18: 57,522,419 (GRCm39) M417K probably benign Het
Ptprq G A 10: 107,522,424 (GRCm39) T543M probably benign Het
Rasal1 T C 5: 120,804,469 (GRCm39) V447A probably damaging Het
Rbl1 T C 2: 157,035,968 (GRCm39) E287G probably benign Het
Rusf1 T A 7: 127,875,403 (GRCm39) T317S possibly damaging Het
Tec A G 5: 72,936,758 (GRCm39) probably null Het
Tex26 A G 5: 149,380,407 (GRCm39) D61G probably damaging Het
Tgfb1i1 G A 7: 127,851,734 (GRCm39) probably benign Het
Tmem132c T C 5: 127,436,675 (GRCm39) Y55H possibly damaging Het
Tmem63a T A 1: 180,780,539 (GRCm39) probably null Het
Umod C T 7: 119,068,690 (GRCm39) G452D probably damaging Het
Vcan G A 13: 89,838,776 (GRCm39) T2256I possibly damaging Het
Vmn1r31 A T 6: 58,449,778 (GRCm39) I29K probably benign Het
Vmn2r117 A G 17: 23,696,199 (GRCm39) Y403H possibly damaging Het
Vmn2r124 A T 17: 18,286,764 (GRCm39) probably null Het
Vmn2r65 T A 7: 84,595,724 (GRCm39) K320M possibly damaging Het
Other mutations in Diaph3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00566:Diaph3 APN 14 87,240,307 (GRCm39) missense probably benign
IGL00809:Diaph3 APN 14 87,237,463 (GRCm39) missense probably damaging 0.98
IGL01419:Diaph3 APN 14 87,202,989 (GRCm39) nonsense probably null
IGL01577:Diaph3 APN 14 87,143,467 (GRCm39) missense probably damaging 0.99
IGL01718:Diaph3 APN 14 86,893,774 (GRCm39) missense unknown
IGL01736:Diaph3 APN 14 87,156,282 (GRCm39) missense probably benign 0.01
IGL01893:Diaph3 APN 14 87,156,288 (GRCm39) missense possibly damaging 0.71
IGL02316:Diaph3 APN 14 87,223,551 (GRCm39) missense possibly damaging 0.88
IGL02586:Diaph3 APN 14 87,223,512 (GRCm39) nonsense probably null
IGL02749:Diaph3 APN 14 87,156,261 (GRCm39) missense probably damaging 0.99
IGL02892:Diaph3 APN 14 87,104,066 (GRCm39) nonsense probably null
IGL03069:Diaph3 APN 14 87,009,555 (GRCm39) missense probably damaging 1.00
IGL03191:Diaph3 APN 14 87,310,738 (GRCm39) missense possibly damaging 0.75
BB008:Diaph3 UTSW 14 87,352,456 (GRCm39) missense possibly damaging 0.70
BB018:Diaph3 UTSW 14 87,352,456 (GRCm39) missense possibly damaging 0.70
R0007:Diaph3 UTSW 14 87,104,056 (GRCm39) missense possibly damaging 0.86
R0007:Diaph3 UTSW 14 87,104,056 (GRCm39) missense possibly damaging 0.86
R0011:Diaph3 UTSW 14 87,103,844 (GRCm39) missense probably damaging 1.00
R0051:Diaph3 UTSW 14 87,274,890 (GRCm39) critical splice donor site probably null
R0051:Diaph3 UTSW 14 87,274,890 (GRCm39) critical splice donor site probably null
R0285:Diaph3 UTSW 14 87,352,460 (GRCm39) missense possibly damaging 0.86
R0359:Diaph3 UTSW 14 87,206,938 (GRCm39) missense probably benign 0.26
R0505:Diaph3 UTSW 14 87,328,400 (GRCm39) splice site probably benign
R0551:Diaph3 UTSW 14 87,147,536 (GRCm39) missense probably benign 0.45
R1295:Diaph3 UTSW 14 87,244,835 (GRCm39) missense probably damaging 1.00
R1539:Diaph3 UTSW 14 86,893,916 (GRCm39) missense probably damaging 1.00
R1602:Diaph3 UTSW 14 87,328,594 (GRCm39) splice site probably benign
R1725:Diaph3 UTSW 14 87,203,759 (GRCm39) critical splice donor site probably null
R1745:Diaph3 UTSW 14 87,203,996 (GRCm39) missense probably damaging 0.96
R1747:Diaph3 UTSW 14 87,310,773 (GRCm39) missense probably damaging 0.98
R1772:Diaph3 UTSW 14 87,202,985 (GRCm39) missense probably damaging 1.00
R1914:Diaph3 UTSW 14 86,893,921 (GRCm39) missense probably damaging 0.98
R1942:Diaph3 UTSW 14 87,378,556 (GRCm39) utr 5 prime probably benign
R1999:Diaph3 UTSW 14 87,222,302 (GRCm39) missense possibly damaging 0.53
R2291:Diaph3 UTSW 14 87,203,882 (GRCm39) missense probably damaging 1.00
R2999:Diaph3 UTSW 14 87,009,530 (GRCm39) missense probably damaging 0.99
R3158:Diaph3 UTSW 14 86,893,892 (GRCm39) missense possibly damaging 0.84
R3612:Diaph3 UTSW 14 87,274,893 (GRCm39) missense probably null 0.89
R4170:Diaph3 UTSW 14 87,223,143 (GRCm39) missense probably damaging 1.00
R4594:Diaph3 UTSW 14 87,223,473 (GRCm39) missense probably damaging 0.99
R4912:Diaph3 UTSW 14 87,244,635 (GRCm39) missense probably damaging 1.00
R4930:Diaph3 UTSW 14 87,378,602 (GRCm39) start gained probably benign
R5063:Diaph3 UTSW 14 87,222,306 (GRCm39) missense probably damaging 1.00
R5093:Diaph3 UTSW 14 87,222,236 (GRCm39) missense probably damaging 1.00
R5267:Diaph3 UTSW 14 86,893,989 (GRCm39) missense probably benign 0.03
R5289:Diaph3 UTSW 14 87,219,114 (GRCm39) missense probably damaging 1.00
R5549:Diaph3 UTSW 14 87,216,106 (GRCm39) missense probably benign 0.14
R5936:Diaph3 UTSW 14 87,009,552 (GRCm39) missense possibly damaging 0.53
R5966:Diaph3 UTSW 14 87,222,261 (GRCm39) missense probably damaging 1.00
R6236:Diaph3 UTSW 14 87,275,004 (GRCm39) nonsense probably null
R6323:Diaph3 UTSW 14 87,203,889 (GRCm39) missense probably benign 0.03
R6331:Diaph3 UTSW 14 87,103,976 (GRCm39) missense probably damaging 1.00
R6362:Diaph3 UTSW 14 87,009,566 (GRCm39) missense probably damaging 1.00
R6398:Diaph3 UTSW 14 87,103,922 (GRCm39) missense probably damaging 1.00
R6408:Diaph3 UTSW 14 87,066,430 (GRCm39) missense possibly damaging 0.68
R6469:Diaph3 UTSW 14 86,893,974 (GRCm39) missense possibly damaging 0.71
R6519:Diaph3 UTSW 14 87,203,771 (GRCm39) missense probably damaging 1.00
R7261:Diaph3 UTSW 14 87,202,893 (GRCm39) missense probably benign 0.04
R7283:Diaph3 UTSW 14 87,104,020 (GRCm39) missense probably damaging 1.00
R7782:Diaph3 UTSW 14 87,274,940 (GRCm39) missense probably benign 0.00
R7811:Diaph3 UTSW 14 87,219,060 (GRCm39) missense probably damaging 1.00
R7931:Diaph3 UTSW 14 87,352,456 (GRCm39) missense possibly damaging 0.70
R8012:Diaph3 UTSW 14 87,274,958 (GRCm39) missense probably benign
R8024:Diaph3 UTSW 14 86,893,835 (GRCm39) missense probably damaging 1.00
R8065:Diaph3 UTSW 14 87,274,931 (GRCm39) missense probably damaging 1.00
R8271:Diaph3 UTSW 14 87,103,949 (GRCm39) missense probably damaging 1.00
R8345:Diaph3 UTSW 14 87,066,529 (GRCm39) nonsense probably null
R8494:Diaph3 UTSW 14 87,274,958 (GRCm39) missense probably benign
R8670:Diaph3 UTSW 14 86,893,835 (GRCm39) missense probably benign 0.05
R9225:Diaph3 UTSW 14 87,244,760 (GRCm39) critical splice donor site probably null
R9304:Diaph3 UTSW 14 87,328,448 (GRCm39) missense possibly damaging 0.94
R9331:Diaph3 UTSW 14 87,378,461 (GRCm39) nonsense probably null
R9532:Diaph3 UTSW 14 86,893,916 (GRCm39) missense probably damaging 1.00
Z1176:Diaph3 UTSW 14 86,893,868 (GRCm39) missense probably benign 0.09
Z1177:Diaph3 UTSW 14 87,240,250 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16