Incidental Mutation 'R7283:Diaph3'
ID 565824
Institutional Source Beutler Lab
Gene Symbol Diaph3
Ensembl Gene ENSMUSG00000022021
Gene Name diaphanous related formin 3
Synonyms mDia2, Drf3, p134MDia2, 4930417P13Rik, Diap3
MMRRC Submission 045361-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7283 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 86892803-87378671 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87104020 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 788 (F788S)
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: F788S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022599
Gene: ENSMUSG00000022021
AA Change: F788S

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 damaging
Transcript: ENSMUST00000168889
AA Change: F788S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129420
Gene: ENSMUSG00000022021
AA Change: F788S

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
Meta Mutation Damage Score 0.9392 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 100% (72/72)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik A G 13: 54,700,504 (GRCm39) V278A probably benign Het
Abcc3 C T 11: 94,247,873 (GRCm39) A1207T probably benign Het
Abce1 C A 8: 80,411,885 (GRCm39) G592* probably null Het
Acad10 A C 5: 121,787,538 (GRCm39) V137G possibly damaging Het
Adcy3 A G 12: 4,253,563 (GRCm39) I672V not run Het
Adgrb1 A T 15: 74,452,512 (GRCm39) Q1166L possibly damaging Het
Ankrd44 A T 1: 54,768,955 (GRCm39) N465K probably damaging Het
Avpr1b A G 1: 131,537,469 (GRCm39) T418A probably benign Het
Azin1 G A 15: 38,501,652 (GRCm39) T33I probably damaging Het
Bicra T C 7: 15,706,425 (GRCm39) T1339A probably damaging Het
Bltp2 A G 11: 78,165,654 (GRCm39) Q1346R probably damaging Het
Cacna1s A G 1: 136,001,446 (GRCm39) Y299C probably damaging Het
Clip1 A C 5: 123,751,857 (GRCm39) C641W Het
Clip3 T C 7: 30,005,237 (GRCm39) S524P probably damaging Het
Cnpy4 A T 5: 138,191,144 (GRCm39) H240L probably benign Het
Cyp2b19 T C 7: 26,466,339 (GRCm39) Y381H probably damaging Het
Cyp3a13 T A 5: 137,903,818 (GRCm39) N280I probably benign Het
Drc7 A G 8: 95,798,207 (GRCm39) N484S probably damaging Het
Erap1 G A 13: 74,821,903 (GRCm39) probably null Het
Fat4 A T 3: 38,943,842 (GRCm39) I912F probably damaging Het
Hsd3b3 T A 3: 98,649,673 (GRCm39) K217* probably null Het
Igkv12-89 A G 6: 68,812,061 (GRCm39) V36A probably damaging Het
Invs T A 4: 48,392,526 (GRCm39) probably null Het
Ipo8 T A 6: 148,725,979 (GRCm39) Y30F possibly damaging Het
Kctd14 T C 7: 97,100,693 (GRCm39) M1T probably null Het
Klrb1c A T 6: 128,761,220 (GRCm39) C136S probably benign Het
Morn2 A G 17: 80,604,688 (GRCm39) E48G probably damaging Het
Myh1 A T 11: 67,092,670 (GRCm39) probably null Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nfxl1 A G 5: 72,686,393 (GRCm39) S603P probably benign Het
Nlrc3 G A 16: 3,765,741 (GRCm39) A351V probably benign Het
Nlrp4f G A 13: 65,343,352 (GRCm39) R76* probably null Het
Or1e1f T C 11: 73,855,634 (GRCm39) S67P probably damaging Het
Or52n1 G T 7: 104,382,800 (GRCm39) T257K probably damaging Het
Or5h22 A T 16: 58,894,555 (GRCm39) M296K probably benign Het
Or7e176 A C 9: 20,171,555 (GRCm39) I140L probably damaging Het
Or8k41 A T 2: 86,313,483 (GRCm39) I201N probably damaging Het
Papolg A G 11: 23,817,394 (GRCm39) V601A not run Het
Pde4dip T C 3: 97,666,198 (GRCm39) T349A probably benign Het
Pdlim5 T C 3: 142,017,741 (GRCm39) probably null Het
Pkhd1l1 A G 15: 44,366,676 (GRCm39) N718S probably benign Het
Plcxd3 A G 15: 4,546,401 (GRCm39) H135R probably damaging Het
Plxna2 A T 1: 194,327,191 (GRCm39) Y375F probably damaging Het
Prkca C T 11: 108,231,471 (GRCm39) probably null Het
Prkdc A G 16: 15,535,628 (GRCm39) S1663G probably benign Het
Ptbp3 T C 4: 59,514,384 (GRCm39) T80A probably benign Het
Ptpn4 C T 1: 119,610,261 (GRCm39) V696I possibly damaging Het
Pygl A T 12: 70,263,342 (GRCm39) W175R possibly damaging Het
Rftn1 A G 17: 50,354,469 (GRCm39) Y298H probably damaging Het
Rit2 A G 18: 31,449,892 (GRCm39) probably null Het
Runx1t1 G A 4: 13,846,935 (GRCm39) G240R probably damaging Het
Scn10a A G 9: 119,493,845 (GRCm39) probably null Het
Serpina16 A C 12: 103,638,691 (GRCm39) probably null Het
Slc17a3 A T 13: 24,039,831 (GRCm39) M290L Het
Slc6a4 A T 11: 76,901,522 (GRCm39) M86L probably benign Het
Spag7 A T 11: 70,556,139 (GRCm39) V46E probably benign Het
Spata31h1 G A 10: 82,127,131 (GRCm39) R1960W possibly damaging Het
Sptlc1 T C 13: 53,498,914 (GRCm39) I271V probably benign Het
Stk17b A C 1: 53,796,674 (GRCm39) H364Q probably benign Het
Strc T C 2: 121,209,933 (GRCm39) H130R probably damaging Het
Stxbp1 T A 2: 32,705,026 (GRCm39) D148V probably damaging Het
Tirap G A 9: 35,100,225 (GRCm39) P153L probably damaging Het
Tmco3 G A 8: 13,369,605 (GRCm39) probably null Het
Tmem51 T A 4: 141,759,094 (GRCm39) D218V probably damaging Het
Trim40 A T 17: 37,193,554 (GRCm39) D218E probably benign Het
Ttc21b T C 2: 66,039,062 (GRCm39) D934G probably damaging Het
Vmn2r26 T C 6: 124,002,914 (GRCm39) L108P probably damaging Het
Washc2 C A 6: 116,204,379 (GRCm39) P429Q probably damaging Het
Wipi1 A G 11: 109,502,137 (GRCm39) M1T probably null Het
Zfp438 A G 18: 5,214,712 (GRCm39) V82A probably damaging Het
Zfp853 G C 5: 143,273,493 (GRCm39) A724G unknown 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
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
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
Predicted Primers PCR Primer
(F):5'- AGTGTTCAGGCAAATATGTGTG -3'
(R):5'- AGGGACATATTGCTTCTTCCG -3'

Sequencing Primer
(F):5'- CTCACTTTACAGAGAGAGCTAAGGTC -3'
(R):5'- AGGGACATATTGCTTCTTCCGTACTG -3'
Posted On 2019-06-26