Incidental Mutation 'IGL00533:Akna'
ID 8745
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Akna
Ensembl Gene ENSMUSG00000039158
Gene Name AT-hook transcription factor
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # IGL00533
Quality Score
Status
Chromosome 4
Chromosomal Location 63285362-63321591 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 63316110 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000041614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035724]
AlphaFold Q80VW7
Predicted Effect probably null
Transcript: ENSMUST00000035724
SMART Domains Protein: ENSMUSP00000041614
Gene: ENSMUSG00000039158

DomainStartEndE-ValueType
low complexity region 140 153 N/A INTRINSIC
coiled coil region 423 458 N/A INTRINSIC
Pfam:AKNA 584 681 4.6e-37 PFAM
low complexity region 760 774 N/A INTRINSIC
low complexity region 1015 1029 N/A INTRINSIC
coiled coil region 1044 1066 N/A INTRINSIC
low complexity region 1296 1317 N/A INTRINSIC
low complexity region 1319 1343 N/A INTRINSIC
coiled coil region 1353 1386 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144095
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a hypomorphic or a knock-out allele exhibit partial postnatal lethality, pathogen-induced acute neutrophil responses leading to systemic inflammation and alveolar destruction, and increased susceptibility to fungal infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 A T 16: 30,958,293 (GRCm39) L175Q probably damaging Het
Arhgef38 C T 3: 132,822,220 (GRCm39) W181* probably null Het
Gm5581 A T 6: 131,144,604 (GRCm39) noncoding transcript Het
Hyls1 G T 9: 35,473,220 (GRCm39) Y65* probably null Het
Map1b A G 13: 99,569,112 (GRCm39) I1203T unknown Het
Met C T 6: 17,534,936 (GRCm39) probably benign Het
Pcdh15 A G 10: 74,338,552 (GRCm39) T1065A probably damaging Het
Proser3 A G 7: 30,240,096 (GRCm39) V336A possibly damaging Het
Prpf40a G A 2: 53,035,355 (GRCm39) R729C probably damaging Het
Ptprk A G 10: 28,461,971 (GRCm39) E1152G probably damaging Het
Scn11a A C 9: 119,603,447 (GRCm39) D1073E probably damaging Het
Spsb3 C T 17: 25,109,539 (GRCm39) probably benign Het
Other mutations in Akna
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00590:Akna APN 4 63,290,115 (GRCm39) missense probably benign 0.00
IGL01567:Akna APN 4 63,300,087 (GRCm39) missense probably benign
IGL01667:Akna APN 4 63,297,396 (GRCm39) missense probably benign 0.34
IGL01820:Akna APN 4 63,304,495 (GRCm39) missense probably benign 0.30
IGL01956:Akna APN 4 63,297,527 (GRCm39) missense probably benign 0.04
IGL02148:Akna APN 4 63,300,716 (GRCm39) splice site probably benign
IGL02502:Akna APN 4 63,286,440 (GRCm39) missense probably benign 0.28
IGL02674:Akna APN 4 63,289,181 (GRCm39) nonsense probably null
IGL02792:Akna APN 4 63,295,943 (GRCm39) missense possibly damaging 0.73
IGL02956:Akna APN 4 63,304,516 (GRCm39) missense probably benign 0.05
R0035:Akna UTSW 4 63,300,682 (GRCm39) missense probably benign 0.16
R0049:Akna UTSW 4 63,312,872 (GRCm39) missense probably damaging 0.97
R0133:Akna UTSW 4 63,297,598 (GRCm39) nonsense probably null
R0396:Akna UTSW 4 63,310,363 (GRCm39) splice site probably benign
R0422:Akna UTSW 4 63,310,391 (GRCm39) missense probably damaging 1.00
R0578:Akna UTSW 4 63,289,147 (GRCm39) missense probably benign
R0784:Akna UTSW 4 63,295,125 (GRCm39) missense probably benign
R1264:Akna UTSW 4 63,299,962 (GRCm39) splice site probably null
R1539:Akna UTSW 4 63,297,547 (GRCm39) missense probably benign 0.00
R1575:Akna UTSW 4 63,297,570 (GRCm39) missense probably benign 0.01
R1646:Akna UTSW 4 63,302,129 (GRCm39) missense probably benign
R2115:Akna UTSW 4 63,313,397 (GRCm39) missense probably benign 0.01
R2121:Akna UTSW 4 63,295,137 (GRCm39) missense probably benign 0.08
R2324:Akna UTSW 4 63,290,039 (GRCm39) missense possibly damaging 0.92
R2961:Akna UTSW 4 63,313,181 (GRCm39) missense probably benign 0.04
R3150:Akna UTSW 4 63,313,590 (GRCm39) missense possibly damaging 0.80
R3552:Akna UTSW 4 63,316,361 (GRCm39) start codon destroyed probably null 0.53
R3855:Akna UTSW 4 63,291,705 (GRCm39) missense probably damaging 0.98
R4023:Akna UTSW 4 63,292,627 (GRCm39) missense probably benign
R4247:Akna UTSW 4 63,313,409 (GRCm39) missense probably benign 0.00
R4299:Akna UTSW 4 63,316,269 (GRCm39) missense possibly damaging 0.59
R4422:Akna UTSW 4 63,305,330 (GRCm39) missense possibly damaging 0.86
R4499:Akna UTSW 4 63,313,278 (GRCm39) missense probably benign
R4723:Akna UTSW 4 63,305,269 (GRCm39) missense probably benign
R4743:Akna UTSW 4 63,296,850 (GRCm39) missense probably damaging 1.00
R4780:Akna UTSW 4 63,297,491 (GRCm39) missense probably benign
R4903:Akna UTSW 4 63,292,274 (GRCm39) missense probably damaging 1.00
R4936:Akna UTSW 4 63,313,502 (GRCm39) missense probably damaging 0.97
R5041:Akna UTSW 4 63,305,381 (GRCm39) missense possibly damaging 0.67
R5276:Akna UTSW 4 63,286,440 (GRCm39) missense possibly damaging 0.95
R5297:Akna UTSW 4 63,300,083 (GRCm39) missense possibly damaging 0.93
R5546:Akna UTSW 4 63,313,803 (GRCm39) missense probably benign
R5546:Akna UTSW 4 63,313,196 (GRCm39) missense probably benign 0.15
R5773:Akna UTSW 4 63,313,307 (GRCm39) missense probably benign 0.41
R5966:Akna UTSW 4 63,313,140 (GRCm39) missense probably damaging 0.99
R6127:Akna UTSW 4 63,286,356 (GRCm39) missense possibly damaging 0.67
R6176:Akna UTSW 4 63,295,969 (GRCm39) missense probably benign 0.04
R6337:Akna UTSW 4 63,292,240 (GRCm39) missense probably benign 0.00
R6701:Akna UTSW 4 63,313,517 (GRCm39) missense probably benign
R6800:Akna UTSW 4 63,316,268 (GRCm39) missense probably benign
R6931:Akna UTSW 4 63,305,339 (GRCm39) missense probably benign 0.02
R7451:Akna UTSW 4 63,296,904 (GRCm39) missense probably benign 0.16
R7644:Akna UTSW 4 63,313,634 (GRCm39) missense possibly damaging 0.48
R7786:Akna UTSW 4 63,313,199 (GRCm39) missense probably benign
R8182:Akna UTSW 4 63,313,034 (GRCm39) missense probably damaging 1.00
R9136:Akna UTSW 4 63,310,392 (GRCm39) missense probably damaging 1.00
R9178:Akna UTSW 4 63,312,846 (GRCm39) missense possibly damaging 0.95
R9563:Akna UTSW 4 63,312,944 (GRCm39) missense probably damaging 1.00
R9687:Akna UTSW 4 63,292,674 (GRCm39) nonsense probably null
R9768:Akna UTSW 4 63,292,636 (GRCm39) missense probably benign
RF048:Akna UTSW 4 63,296,078 (GRCm39) small deletion probably benign
Posted On 2012-12-06