Incidental Mutation 'R5093:Diaph3'
ID 387954
Institutional Source Beutler Lab
Gene Symbol Diaph3
Ensembl Gene ENSMUSG00000022021
Gene Name diaphanous related formin 3
Synonyms mDia2, Drf3, p134MDia2, 4930417P13Rik, Diap3
MMRRC Submission 042682-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5093 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 86892803-87378671 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 87222236 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 416 (R416L)
Ref Sequence ENSEMBL: ENSMUSP00000153711 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022599] [ENSMUST00000168889] [ENSMUST00000228000]
AlphaFold Q9Z207
Predicted Effect probably damaging
Transcript: ENSMUST00000022599
AA Change: R427L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022599
Gene: ENSMUSG00000022021
AA Change: R427L

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: R427L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000129420
Gene: ENSMUSG00000022021
AA Change: R427L

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
Predicted Effect probably damaging
Transcript: ENSMUST00000228000
AA Change: R416L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.9143 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency 99% (90/91)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik C T 13: 119,610,573 (GRCm39) probably benign Het
Abca9 A T 11: 110,032,358 (GRCm39) L753Q probably damaging Het
Acvrl1 A G 15: 101,032,628 (GRCm39) probably null Het
Adgrv1 A T 13: 81,740,704 (GRCm39) N141K probably damaging Het
Aftph C T 11: 20,659,619 (GRCm39) probably null Het
Aifm1 C T X: 47,571,637 (GRCm39) G371S probably benign Het
Aldh3b2 A G 19: 4,029,433 (GRCm39) M269V probably benign Het
Ankrd44 T C 1: 54,802,877 (GRCm39) Y207C probably damaging Het
Arhgap15 G T 2: 44,212,767 (GRCm39) M412I probably damaging Het
Auts2 A C 5: 131,468,296 (GRCm39) L783R probably damaging Het
Baiap2l1 A T 5: 144,215,363 (GRCm39) Y381N probably damaging Het
Baiap3 T C 17: 25,469,243 (GRCm39) D180G probably damaging Het
Cant1 T C 11: 118,302,038 (GRCm39) Y93C probably damaging Het
Catsperg2 T C 7: 29,416,423 (GRCm39) S330G probably benign Het
Ccdc73 A T 2: 104,848,111 (GRCm39) probably benign Het
Cdc5l A T 17: 45,703,967 (GRCm39) F752L possibly damaging Het
Celsr2 G T 3: 108,320,689 (GRCm39) H708N possibly damaging Het
Cep170 T A 1: 176,596,896 (GRCm39) K487M possibly damaging Het
Cerkl A T 2: 79,163,867 (GRCm39) N66K probably damaging Het
Cilk1 G A 9: 78,047,303 (GRCm39) V68I probably benign Het
Clec11a C T 7: 43,954,150 (GRCm39) A268T probably damaging Het
Ctnna2 C A 6: 77,091,912 (GRCm39) probably null Het
Dnmbp T A 19: 43,838,315 (GRCm39) N1170I probably damaging Het
Erbb2 G T 11: 98,318,279 (GRCm39) C505F probably damaging Het
Ercc6 T A 14: 32,289,479 (GRCm39) F904L probably damaging Het
Exo5 C T 4: 120,779,514 (GRCm39) G117D probably damaging Het
F2 CAGAAAG CAG 2: 91,465,302 (GRCm39) probably benign Het
Fbxl5 A G 5: 43,930,896 (GRCm39) Y64H probably damaging Het
Gabra4 T A 5: 71,798,207 (GRCm39) M207L probably damaging Het
Galnt15 T C 14: 31,771,786 (GRCm39) L277P probably damaging Het
Gclm T C 3: 122,049,261 (GRCm39) probably null Het
Gm5493 T A 17: 22,966,201 (GRCm39) C29S possibly damaging Het
Grik3 A G 4: 125,564,382 (GRCm39) T455A probably benign Het
Grm3 A G 5: 9,639,766 (GRCm39) V93A probably benign Het
Hdgfl2 C T 17: 56,406,217 (GRCm39) A535V possibly damaging Het
Hfm1 A T 5: 107,049,597 (GRCm39) S455T probably damaging Het
Hmcn1 T A 1: 150,613,007 (GRCm39) D1424V probably benign Het
Hsd3b6 C T 3: 98,715,120 (GRCm39) V91I probably benign Het
Igdcc4 G A 9: 65,030,039 (GRCm39) S363N possibly damaging Het
Intu T C 3: 40,647,347 (GRCm39) V740A probably benign Het
Itga2 C T 13: 114,992,717 (GRCm39) V838I probably benign Het
Kif9 A G 9: 110,318,965 (GRCm39) E143G probably damaging Het
Kmt2c T A 5: 25,614,205 (GRCm39) I172F probably benign Het
Kmt2d G A 15: 98,754,043 (GRCm39) R21W probably damaging Het
Mdh1b A T 1: 63,750,620 (GRCm39) D449E probably benign Het
Meis1 T C 11: 18,831,785 (GRCm39) I418V probably benign Het
Nags T A 11: 102,037,395 (GRCm39) M162K probably damaging Het
Nufip1 A G 14: 76,348,413 (GRCm39) D14G probably benign Het
Or2l13 T A 16: 19,306,227 (GRCm39) I213N probably damaging Het
Or2n1c A C 17: 38,519,208 (GRCm39) E24A possibly damaging Het
Or7g28 T G 9: 19,272,274 (GRCm39) I126L probably damaging Het
Osmr A C 15: 6,850,560 (GRCm39) V681G probably damaging Het
Paxip1 G T 5: 27,971,282 (GRCm39) Q356K unknown Het
Pcdhac1 T A 18: 37,223,595 (GRCm39) F136Y probably damaging Het
Pla2g6 A G 15: 79,171,328 (GRCm39) V699A probably benign Het
Plcb3 A T 19: 6,943,578 (GRCm39) V107E probably damaging Het
Plch1 T A 3: 63,681,136 (GRCm39) I164F probably damaging Het
Plpp3 A T 4: 105,052,077 (GRCm39) I73F probably damaging Het
Plscr5 G A 9: 92,080,574 (GRCm39) R20Q probably benign Het
Prdm10 G A 9: 31,252,779 (GRCm39) R504Q probably damaging Het
Prss58 T C 6: 40,874,751 (GRCm39) Y30C probably damaging Het
Psg19 T A 7: 18,530,894 (GRCm39) T87S probably benign Het
Ptpn22 T G 3: 103,789,418 (GRCm39) M294R probably benign Het
Rai1 T A 11: 60,079,482 (GRCm39) M1182K probably benign Het
Sez6 T A 11: 77,867,388 (GRCm39) V795D possibly damaging Het
Shcbp1 A G 8: 4,789,214 (GRCm39) V535A possibly damaging Het
Skint9 A G 4: 112,246,447 (GRCm39) Y222H probably benign Het
Slc13a3 T A 2: 165,253,816 (GRCm39) I446F probably damaging Het
Slc2a3 C T 6: 122,714,196 (GRCm39) R57H probably damaging Het
Slc44a4 A G 17: 35,140,219 (GRCm39) D208G probably benign Het
Spata31d1b A T 13: 59,863,838 (GRCm39) N329Y possibly damaging Het
Strbp C T 2: 37,517,499 (GRCm39) R192K probably damaging Het
Tctn3 A T 19: 40,600,548 (GRCm39) L14Q probably damaging Het
Tenm2 T A 11: 36,834,989 (GRCm39) D2V probably damaging Het
Tln2 T G 9: 67,241,596 (GRCm39) K1003T probably benign Het
Tmem63b T C 17: 45,971,800 (GRCm39) E805G probably damaging Het
Trhr A T 15: 44,060,980 (GRCm39) N167Y probably damaging Het
Trpc2 A G 7: 101,744,390 (GRCm39) R721G probably benign Het
Ttn C A 2: 76,701,267 (GRCm39) probably benign Het
Wdr91 A G 6: 34,869,288 (GRCm39) I412T probably damaging Het
Zcchc4 T A 5: 52,953,952 (GRCm39) S211T probably benign 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
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
Predicted Primers PCR Primer
(F):5'- TCATTAACCGAAGAGGATACAACTG -3'
(R):5'- CTTCATGAAGCAGACACTGTG -3'

Sequencing Primer
(F):5'- CTTGAGGGCAGAGCTAAGTAAACTC -3'
(R):5'- GCAGACACTGTGTTATACTAGCTGC -3'
Posted On 2016-06-06