Incidental Mutation 'IGL02749:Diaph3'
ID 306193
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 # IGL02749
Quality Score
Status
Chromosome 14
Chromosomal Location 86892803-87378671 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87156261 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 684 (I684T)
Ref Sequence ENSEMBL: ENSMUSP00000129420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022599] [ENSMUST00000168889]
AlphaFold Q9Z207
Predicted Effect probably damaging
Transcript: ENSMUST00000022599
AA Change: I684T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022599
Gene: ENSMUSG00000022021
AA Change: I684T

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 noncoding transcript
Transcript: ENSMUST00000104755
Predicted Effect probably damaging
Transcript: ENSMUST00000168889
AA Change: I684T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000129420
Gene: ENSMUSG00000022021
AA Change: I684T

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230104M06Rik T C 12: 112,963,795 (GRCm39) D61G probably benign Het
Albfm1 T C 5: 90,719,624 (GRCm39) V240A possibly damaging Het
Ascc2 G A 11: 4,590,481 (GRCm39) probably null Het
Atrn C T 2: 130,812,064 (GRCm39) Q670* probably null Het
Atrn G T 2: 130,789,654 (GRCm39) probably benign Het
Calr A C 8: 85,571,117 (GRCm39) W236G probably damaging Het
Camk2g T A 14: 20,816,084 (GRCm39) probably null Het
Cd101 G T 3: 100,927,715 (GRCm39) T122K probably damaging Het
Cert1 T A 13: 96,765,643 (GRCm39) N469K possibly damaging Het
Cryl1 T C 14: 57,541,181 (GRCm39) T168A probably benign Het
Ednrb A T 14: 104,060,495 (GRCm39) M266K possibly damaging Het
Eif4h T C 5: 134,668,146 (GRCm39) D3G probably damaging Het
Eny2 C T 15: 44,293,031 (GRCm39) R28C possibly damaging Het
Epsti1 A G 14: 78,177,363 (GRCm39) E181G probably damaging Het
Ezh2 A G 6: 47,510,698 (GRCm39) F598S probably damaging Het
Fat3 G T 9: 15,918,007 (GRCm39) T1472K possibly damaging Het
Gabra4 T A 5: 71,795,490 (GRCm39) I262F probably benign Het
Gpat4 A T 8: 23,670,886 (GRCm39) Y109N probably damaging Het
Gpsm1 C T 2: 26,229,687 (GRCm39) T36I probably damaging Het
Hikeshi C T 7: 89,585,097 (GRCm39) V36I possibly damaging Het
Hip1 T C 5: 135,473,605 (GRCm39) M238V probably benign Het
Hnrnpll A T 17: 80,369,420 (GRCm39) M1K probably null Het
Irx2 G A 13: 72,779,429 (GRCm39) D238N probably damaging Het
Kcnip4 T A 5: 48,567,127 (GRCm39) probably benign Het
Lair1 G A 7: 4,031,900 (GRCm39) T69I possibly damaging Het
Lamc1 A G 1: 153,125,599 (GRCm39) I558T possibly damaging Het
Map4k5 C T 12: 69,862,580 (GRCm39) E639K probably benign Het
Mc4r A G 18: 66,992,733 (GRCm39) S127P probably damaging Het
Mmp23 A G 4: 155,735,989 (GRCm39) M221T possibly damaging Het
Mre11a T C 9: 14,737,887 (GRCm39) S587P possibly damaging Het
Myh9 A T 15: 77,692,186 (GRCm39) Y124* probably null Het
Nek9 C A 12: 85,352,281 (GRCm39) A861S probably benign Het
Nup155 T A 15: 8,163,560 (GRCm39) Y576N probably damaging Het
Or5w10 C T 2: 87,375,001 (GRCm39) V296M probably damaging Het
Pcca A T 14: 122,771,800 (GRCm39) T8S probably benign Het
Pcdh15 A G 10: 74,466,900 (GRCm39) D1573G probably benign Het
Pdpr T A 8: 111,844,722 (GRCm39) V373E probably benign Het
Pdzph1 A T 17: 59,239,478 (GRCm39) L950Q possibly damaging Het
Pira13 A G 7: 3,825,624 (GRCm39) I415T probably damaging Het
Prss35 A C 9: 86,638,297 (GRCm39) K356Q probably damaging Het
Psg22 A T 7: 18,456,944 (GRCm39) T237S possibly damaging Het
Rdh13 A G 7: 4,430,703 (GRCm39) Y252H probably damaging Het
Sema3d T C 5: 12,613,112 (GRCm39) probably benign Het
Slc35b2 G A 17: 45,877,493 (GRCm39) V207I probably benign Het
Sparcl1 T G 5: 104,240,746 (GRCm39) E226A possibly damaging Het
Srms C A 2: 180,851,302 (GRCm39) A155S possibly damaging Het
Tas2r107 A T 6: 131,636,917 (GRCm39) I44N probably damaging Het
Tmem236 C T 2: 14,224,132 (GRCm39) T307M probably damaging Het
Ush2a C T 1: 188,679,155 (GRCm39) P4788S probably damaging Het
Vmn1r170 A T 7: 23,305,716 (GRCm39) L39F probably benign Het
Vmn2r90 T A 17: 17,947,122 (GRCm39) *121R probably null 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
IGL02527:Diaph3 APN 14 87,047,795 (GRCm39) missense possibly damaging 0.47
IGL02586:Diaph3 APN 14 87,223,512 (GRCm39) nonsense probably null
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