Incidental Mutation 'R9225:Diaph3'
ID 699818
Institutional Source Beutler Lab
Gene Symbol Diaph3
Ensembl Gene ENSMUSG00000022021
Gene Name diaphanous related formin 3
Synonyms mDia2, Drf3, p134MDia2, 4930417P13Rik, Diap3
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9225 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 86892803-87378671 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 87244760 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000129420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022599] [ENSMUST00000168889] [ENSMUST00000228000]
AlphaFold Q9Z207
Predicted Effect probably benign
Transcript: ENSMUST00000022599
SMART Domains Protein: ENSMUSP00000022599
Gene: ENSMUSG00000022021

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 null
Transcript: ENSMUST00000168889
SMART Domains Protein: ENSMUSP00000129420
Gene: ENSMUSG00000022021

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 probably benign
Transcript: ENSMUST00000228000
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik G T 5: 88,120,433 (GRCm39) V397L probably benign Het
Adam26b G T 8: 43,973,453 (GRCm39) Y516* probably null Het
Afap1 A G 5: 36,133,968 (GRCm39) K468E possibly damaging Het
Ank2 A G 3: 126,736,111 (GRCm39) S3258P unknown Het
Ap1g1 A G 8: 110,585,509 (GRCm39) K783E probably benign Het
Apbb1 A G 7: 105,218,063 (GRCm39) S20P Het
Atg13 T C 2: 91,519,128 (GRCm39) probably null Het
Atg16l2 A G 7: 100,951,188 (GRCm39) V16A probably benign Het
Atp11a G A 8: 12,867,005 (GRCm39) R144Q probably benign Het
Avpr1a A T 10: 122,285,466 (GRCm39) T253S probably benign Het
B4galnt3 T C 6: 120,195,928 (GRCm39) T300A probably damaging Het
Bag4 A G 8: 26,261,270 (GRCm39) V157A probably benign Het
Brsk2 A G 7: 141,547,039 (GRCm39) H494R probably damaging Het
Cacna2d2 G A 9: 107,403,403 (GRCm39) G955S probably benign Het
Ccdc42 A T 11: 68,479,061 (GRCm39) E83V probably damaging Het
Cep120 T C 18: 53,839,896 (GRCm39) Q788R probably benign Het
Cnbd1 A G 4: 18,907,010 (GRCm39) I188T probably benign Het
Col6a6 C T 9: 105,659,437 (GRCm39) E503K possibly damaging Het
Cpt1c A T 7: 44,610,213 (GRCm39) L661H probably damaging Het
Cyp2a22 T C 7: 26,637,202 (GRCm39) D194G possibly damaging Het
Cyp2c70 C A 19: 40,168,912 (GRCm39) R125L probably damaging Het
Cyp3a41a A T 5: 145,650,414 (GRCm39) D76E probably benign Het
Cyp4f13 A T 17: 33,144,319 (GRCm39) I458N probably damaging Het
Cyp4f13 T C 17: 33,148,175 (GRCm39) Q350R probably damaging Het
Ddx60 G A 8: 62,470,875 (GRCm39) V1456I probably benign Het
Dgkh T C 14: 78,962,507 (GRCm39) H8R probably damaging Het
Dnah8 A C 17: 30,854,647 (GRCm39) D103A probably benign Het
Dock4 G A 12: 40,879,669 (GRCm39) R1551Q probably benign Het
Eps8 A T 6: 137,507,561 (GRCm39) S56T probably benign Het
Fam171b T A 2: 83,710,386 (GRCm39) L686Q probably damaging Het
Fndc3b A C 3: 27,510,680 (GRCm39) L814* probably null Het
Gcnt2 T A 13: 41,014,336 (GRCm39) L169Q probably damaging Het
Gm21103 T A 14: 17,484,877 (GRCm39) I56F possibly damaging Het
Gpc1 A T 1: 92,783,742 (GRCm39) K276N probably damaging Het
Hivep1 T A 13: 42,337,184 (GRCm39) V2421D probably damaging Het
Hoxb1 T C 11: 96,257,119 (GRCm39) L156P probably benign Het
Ifi208 A G 1: 173,518,294 (GRCm39) D467G possibly damaging Het
Klhl22 A G 16: 17,594,617 (GRCm39) M249V probably damaging Het
Kmt2b A G 7: 30,286,172 (GRCm39) V240A unknown Het
Lacc1 A T 14: 77,272,414 (GRCm39) Y127* probably null Het
Lgr4 C A 2: 109,842,485 (GRCm39) H823Q probably benign Het
Llgl1 T C 11: 60,600,889 (GRCm39) S662P probably damaging Het
Lrrc1 G A 9: 77,359,955 (GRCm39) T279I probably benign Het
Lrrc8e T A 8: 4,284,561 (GRCm39) V262E probably damaging Het
Magi1 G T 6: 93,762,511 (GRCm39) P292T possibly damaging Het
Mccc1 T A 3: 36,018,511 (GRCm39) I608F probably benign Het
Mroh8 T A 2: 157,107,010 (GRCm39) I220L probably damaging Het
Mtcl3 A T 10: 29,072,327 (GRCm39) K540* probably null Het
Mycn C A 12: 12,987,609 (GRCm39) D263Y probably damaging Het
Myrip A G 9: 120,293,850 (GRCm39) K782E probably damaging Het
Ncoa6 T A 2: 155,249,441 (GRCm39) I1288F possibly damaging Het
Nebl A G 2: 17,405,322 (GRCm39) I399T possibly damaging Het
Neurod1 A T 2: 79,284,731 (GRCm39) H217Q probably benign Het
Nlrp5 T C 7: 23,117,371 (GRCm39) V365A probably benign Het
Or1e1 C A 11: 73,244,595 (GRCm39) N5K probably damaging Het
Or2ag12 A G 7: 106,276,976 (GRCm39) V239A probably benign Het
Or5b100-ps1 G C 19: 12,994,371 (GRCm39) *261Y probably null Het
Or5b100-ps1 A G 19: 12,994,370 (GRCm39) *261W probably null Het
Otud7a A G 7: 63,407,469 (GRCm39) T591A possibly damaging Het
Pbx3 T C 2: 34,260,938 (GRCm39) probably benign Het
Pcdhb4 A T 18: 37,441,695 (GRCm39) Q335L possibly damaging Het
Plxnc1 C A 10: 94,629,061 (GRCm39) C1571F probably damaging Het
Pola2 G A 19: 6,000,492 (GRCm39) P330S probably benign Het
Ppm1l A T 3: 69,460,244 (GRCm39) N274Y probably benign Het
Ppp4r3b A G 11: 29,155,648 (GRCm39) D538G possibly damaging Het
Ptx4 C T 17: 25,341,696 (GRCm39) T57I probably benign Het
Rchy1 A T 5: 92,105,396 (GRCm39) C108* probably null Het
Rif1 A G 2: 52,001,862 (GRCm39) E130G probably benign Het
Rmdn1 A T 4: 19,601,385 (GRCm39) Y219F probably damaging Het
Rnf144a A G 12: 26,377,606 (GRCm39) C46R probably damaging Het
Rpl13a C A 7: 44,775,627 (GRCm39) G146V probably damaging Het
Rpl13a C A 7: 44,775,628 (GRCm39) G146W probably damaging Het
Rtn3 A T 19: 7,434,854 (GRCm39) N379K probably damaging Het
Sdc1 G T 12: 8,821,817 (GRCm39) R19L unknown Het
Shank1 A G 7: 43,983,470 (GRCm39) I651V unknown Het
Slamf6 T C 1: 171,764,270 (GRCm39) V221A probably benign Het
Sp9 C A 2: 73,103,839 (GRCm39) S131* probably null Het
Spen T C 4: 141,202,943 (GRCm39) T1895A possibly damaging Het
Taf6l CGCAGCCGCACCTG CG 19: 8,751,688 (GRCm39) probably benign Het
Thada G T 17: 84,749,172 (GRCm39) H600N possibly damaging Het
Trmt11 G T 10: 30,423,753 (GRCm39) P384Q probably damaging Het
Tsnaxip1 T C 8: 106,566,659 (GRCm39) L165P probably damaging Het
Ttc7 A G 17: 87,637,502 (GRCm39) Y419C probably damaging Het
Ugt1a6a T C 1: 88,066,560 (GRCm39) F122S probably benign Het
Vmn1r218 G A 13: 23,320,824 (GRCm39) C57Y probably benign Het
Vmn2r14 T C 5: 109,369,288 (GRCm39) N95S probably damaging Het
Vmn2r2 G T 3: 64,034,021 (GRCm39) H500Q probably benign Het
Vmn2r70 T A 7: 85,208,242 (GRCm39) Y745F probably damaging Het
Zfp189 C T 4: 49,530,193 (GRCm39) S432F probably benign Het
Zscan2 C T 7: 80,513,021 (GRCm39) A2V probably 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
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
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
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'- ATAGAGCCTTCCCTGGTGAAG -3'
(R):5'- GAAAGCTTCAACCGTTTTGCATC -3'

Sequencing Primer
(F):5'- CTTCCCTGGTGAAGCTCTGG -3'
(R):5'- CAACCGTTTTGCATCTAGTATTATGC -3'
Posted On 2022-02-07