Incidental Mutation 'R9768:Akna'
ID 733361
Institutional Source Beutler Lab
Gene Symbol Akna
Ensembl Gene ENSMUSG00000039158
Gene Name AT-hook transcription factor
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R9768 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 63285362-63321591 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 63292636 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1091 (E1091G)
Ref Sequence ENSEMBL: ENSMUSP00000041614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035724]
AlphaFold Q80VW7
Predicted Effect probably benign
Transcript: ENSMUST00000035724
AA Change: E1091G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000041614
Gene: ENSMUSG00000039158
AA Change: E1091G

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 98.2%
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930524B15Rik C A 11: 31,915,770 (GRCm39) F37L probably benign Het
Asxl3 A G 18: 22,650,101 (GRCm39) T697A probably benign Het
Cdk5r1 A G 11: 80,368,414 (GRCm39) Y27C probably damaging Het
Cdkl2 T A 5: 92,165,244 (GRCm39) I511L probably benign Het
Clp1 A C 2: 84,556,477 (GRCm39) M1R probably null Het
Csrnp1 A C 9: 119,801,819 (GRCm39) D413E probably damaging Het
Gbp2 T C 3: 142,341,055 (GRCm39) S479P probably benign Het
Il23r A G 6: 67,408,603 (GRCm39) S413P probably damaging Het
Klb G T 5: 65,537,373 (GRCm39) R901L probably damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Lta4h G A 10: 93,308,818 (GRCm39) V373I probably benign Het
Map3k1 G T 13: 111,904,630 (GRCm39) Q385K probably benign Het
Mapk8ip2 A T 15: 89,343,160 (GRCm39) D634V probably damaging Het
Myocd T C 11: 65,078,217 (GRCm39) E526G probably damaging Het
Nipal4 C T 11: 46,041,473 (GRCm39) V241M probably damaging Het
Nup188 T A 2: 30,227,045 (GRCm39) V1206E probably damaging Het
Pak6 A G 2: 118,520,396 (GRCm39) Y129C probably damaging Het
Pigp T A 16: 94,166,332 (GRCm39) K125N probably damaging Het
Pmm1 G A 15: 81,840,460 (GRCm39) T95M possibly damaging Het
Prrt3 A T 6: 113,474,032 (GRCm39) N335K probably damaging Het
Rsrc2 T C 5: 123,868,561 (GRCm39) N361S probably benign Het
Slc45a1 T C 4: 150,722,982 (GRCm39) T301A probably benign Het
Spata19 A C 9: 27,311,744 (GRCm39) D121A probably damaging Het
Speg T A 1: 75,395,617 (GRCm39) L1796* probably null Het
Stx2 A G 5: 129,063,422 (GRCm39) S288P unknown Het
Tlk1 C T 2: 70,600,400 (GRCm39) S93N probably damaging Het
Tmc8 A G 11: 117,676,029 (GRCm39) D256G probably damaging Het
Vldlr T C 19: 27,218,720 (GRCm39) Y524H possibly damaging Het
Vmn1r168 T C 7: 23,240,509 (GRCm39) F122S probably benign Het
Vmn2r67 T C 7: 84,802,037 (GRCm39) N88S probably benign Het
Zhx1 A G 15: 57,918,207 (GRCm39) V13A probably damaging Het
Other mutations in Akna
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00533:Akna APN 4 63,316,110 (GRCm39) critical splice donor site probably null
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
RF048:Akna UTSW 4 63,296,078 (GRCm39) small deletion probably benign
Predicted Primers PCR Primer
(F):5'- AGAATGGACCAGTGGCCATG -3'
(R):5'- CCGATCTTGTGTCTGCAGAC -3'

Sequencing Primer
(F):5'- CAGTGGCCATGCTGGGG -3'
(R):5'- CGATAGCTCTGTTCGTTGCTCAAATG -3'
Posted On 2022-11-14