Incidental Mutation 'IGL00697:Aknad1'
ID 8748
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aknad1
Ensembl Gene ENSMUSG00000049565
Gene Name AKNA domain containing 1
Synonyms 4921525H12Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # IGL00697
Quality Score
Status
Chromosome 3
Chromosomal Location 108646974-108689625 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 108682324 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 495 (D495E)
Ref Sequence ENSEMBL: ENSMUSP00000121755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000123556] [ENSMUST00000133931]
AlphaFold E9Q8N6
Predicted Effect probably benign
Transcript: ENSMUST00000123556
SMART Domains Protein: ENSMUSP00000125068
Gene: ENSMUSG00000049565

DomainStartEndE-ValueType
Pfam:AKNA 322 414 3.4e-44 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000133931
AA Change: D495E

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000121755
Gene: ENSMUSG00000049565
AA Change: D495E

DomainStartEndE-ValueType
Pfam:AKNA 322 415 2.5e-35 PFAM
low complexity region 557 572 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147916
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 protein which contains a domain found in an AT-hook-containing transcription factor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
Allele List at MGI
Other mutations in this stock
Total: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Brpf1 T A 6: 113,291,947 (GRCm39) L331Q probably damaging Het
Coq10b T A 1: 55,100,424 (GRCm39) probably null Het
Diaph2 C T X: 129,361,689 (GRCm39) probably benign 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 Aknad1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01734:Aknad1 APN 3 108,659,217 (GRCm39) missense probably benign 0.05
IGL01877:Aknad1 APN 3 108,682,406 (GRCm39) missense probably damaging 0.99
IGL01964:Aknad1 APN 3 108,685,593 (GRCm39) missense probably benign
IGL03091:Aknad1 APN 3 108,659,219 (GRCm39) missense possibly damaging 0.76
IGL03172:Aknad1 APN 3 108,688,519 (GRCm39) missense possibly damaging 0.53
R0023:Aknad1 UTSW 3 108,688,501 (GRCm39) missense probably benign 0.00
R0023:Aknad1 UTSW 3 108,688,501 (GRCm39) missense probably benign 0.00
R0238:Aknad1 UTSW 3 108,688,555 (GRCm39) missense probably benign
R0238:Aknad1 UTSW 3 108,688,555 (GRCm39) missense probably benign
R0294:Aknad1 UTSW 3 108,682,508 (GRCm39) missense probably damaging 0.99
R0931:Aknad1 UTSW 3 108,659,339 (GRCm39) missense probably damaging 1.00
R1147:Aknad1 UTSW 3 108,659,857 (GRCm39) missense possibly damaging 0.89
R1147:Aknad1 UTSW 3 108,659,857 (GRCm39) missense possibly damaging 0.89
R1179:Aknad1 UTSW 3 108,659,783 (GRCm39) missense possibly damaging 0.78
R1579:Aknad1 UTSW 3 108,659,452 (GRCm39) nonsense probably null
R1746:Aknad1 UTSW 3 108,659,099 (GRCm39) missense possibly damaging 0.48
R2205:Aknad1 UTSW 3 108,664,609 (GRCm39) missense probably damaging 1.00
R2316:Aknad1 UTSW 3 108,688,472 (GRCm39) missense probably damaging 0.98
R2519:Aknad1 UTSW 3 108,663,784 (GRCm39) missense probably damaging 0.97
R3087:Aknad1 UTSW 3 108,664,179 (GRCm39) nonsense probably null
R4007:Aknad1 UTSW 3 108,682,598 (GRCm39) missense probably benign 0.33
R4716:Aknad1 UTSW 3 108,682,417 (GRCm39) critical splice donor site probably null
R4762:Aknad1 UTSW 3 108,682,547 (GRCm39) missense possibly damaging 0.86
R4852:Aknad1 UTSW 3 108,659,056 (GRCm39) missense probably damaging 0.99
R4910:Aknad1 UTSW 3 108,688,568 (GRCm39) critical splice donor site probably null
R5191:Aknad1 UTSW 3 108,659,867 (GRCm39) missense probably benign 0.11
R5191:Aknad1 UTSW 3 108,659,306 (GRCm39) missense probably benign 0.04
R5918:Aknad1 UTSW 3 108,659,703 (GRCm39) missense probably benign 0.00
R6246:Aknad1 UTSW 3 108,659,148 (GRCm39) missense probably damaging 1.00
R6730:Aknad1 UTSW 3 108,659,655 (GRCm39) missense possibly damaging 0.95
R7123:Aknad1 UTSW 3 108,682,560 (GRCm39) nonsense probably null
R7641:Aknad1 UTSW 3 108,679,291 (GRCm39) missense probably benign 0.41
R8181:Aknad1 UTSW 3 108,659,328 (GRCm39) missense possibly damaging 0.91
R8377:Aknad1 UTSW 3 108,689,255 (GRCm39) missense possibly damaging 0.53
R8430:Aknad1 UTSW 3 108,659,037 (GRCm39) missense possibly damaging 0.95
R8735:Aknad1 UTSW 3 108,682,615 (GRCm39) splice site probably benign
R9191:Aknad1 UTSW 3 108,664,093 (GRCm39) missense probably damaging 1.00
R9250:Aknad1 UTSW 3 108,664,143 (GRCm39) missense probably damaging 1.00
X0023:Aknad1 UTSW 3 108,659,493 (GRCm39) missense possibly damaging 0.47
Posted On 2012-12-06