Incidental Mutation 'IGL00697:Diaph2'
ID 29564
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Diaph2
Ensembl Gene ENSMUSG00000034480
Gene Name diaphanous related formin 2
Synonyms Diap2, E430022I22Rik, mDia3, Dia3
Accession Numbers
Essential gene? Not available question?
Stock # IGL00697
Quality Score
Status
Chromosome X
Chromosomal Location 128650491-129366583 bp(+) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) C to T at 129361689 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000131879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037854] [ENSMUST00000113320] [ENSMUST00000167619]
AlphaFold O70566
Predicted Effect probably benign
Transcript: ENSMUST00000037854
SMART Domains Protein: ENSMUSP00000039334
Gene: ENSMUSG00000034480

DomainStartEndE-ValueType
low complexity region 2 24 N/A INTRINSIC
Drf_GBD 101 287 9.42e-54 SMART
Drf_FH3 292 479 1.65e-67 SMART
SCOP:d1jvr__ 538 580 2e-3 SMART
FH2 629 1072 2.73e-166 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113320
SMART Domains Protein: ENSMUSP00000108946
Gene: ENSMUSG00000034480

DomainStartEndE-ValueType
low complexity region 2 24 N/A INTRINSIC
Drf_GBD 90 283 2.28e-52 SMART
Drf_FH3 288 475 1.65e-67 SMART
SCOP:d1jvr__ 534 576 2e-3 SMART
FH2 625 1068 2.73e-166 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167619
SMART Domains Protein: ENSMUSP00000131879
Gene: ENSMUSG00000034480

DomainStartEndE-ValueType
low complexity region 2 24 N/A INTRINSIC
Drf_GBD 101 287 9.42e-54 SMART
Drf_FH3 292 479 1.65e-67 SMART
SCOP:d1jvr__ 538 580 2e-3 SMART
FH2 629 1072 3.31e-165 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Male chimeras hemizygous for a gene trapped allele appear normal at E10.5. Chimeras hemizygous for another gene trapped allele exhibit hemorrhage, cardiac defects, and brain malformations from E11 onwards. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aknad1 T A 3: 108,682,324 (GRCm39) D495E probably damaging Het
Brpf1 T A 6: 113,291,947 (GRCm39) L331Q probably damaging Het
Coq10b T A 1: 55,100,424 (GRCm39) probably null Het
Dsg3 T C 18: 20,657,746 (GRCm39) probably null Het
Iars1 T A 13: 49,863,204 (GRCm39) F552Y probably damaging Het
Katnip G A 7: 125,394,622 (GRCm39) V233M possibly damaging Het
Mfsd14b C T 13: 65,214,515 (GRCm39) S479N probably benign Het
Nsmaf A G 4: 6,417,163 (GRCm39) probably null Het
Pdzd2 T C 15: 12,373,733 (GRCm39) Y2134C possibly damaging Het
Srpk2 C T 5: 23,745,377 (GRCm39) R95Q probably benign Het
Svs3a A T 2: 164,131,732 (GRCm39) E100V probably damaging Het
Tspyl2 T C X: 151,122,710 (GRCm39) D379G probably damaging Het
Other mutations in Diaph2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00851:Diaph2 APN X 128,872,296 (GRCm39) missense unknown
R1864:Diaph2 UTSW X 128,860,876 (GRCm39) missense probably damaging 1.00
Posted On 2013-04-17