Incidental Mutation 'R4023:Akna'
ID 313337
Institutional Source Beutler Lab
Gene Symbol Akna
Ensembl Gene ENSMUSG00000039158
Gene Name AT-hook transcription factor
Synonyms
MMRRC Submission 040957-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R4023 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 63285362-63321591 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 63292627 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Alanine at position 1094 (G1094A)
Ref Sequence ENSEMBL: ENSMUSP00000041614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035724]
AlphaFold Q80VW7
Predicted Effect probably benign
Transcript: ENSMUST00000035724
AA Change: G1094A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000041614
Gene: ENSMUSG00000039158
AA Change: G1094A

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: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.2%
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik CGGG CGGGGGG 15: 76,833,863 (GRCm39) probably benign Het
Acad8 T C 9: 26,890,481 (GRCm39) I276V probably benign Het
Adgrg7 A T 16: 56,550,661 (GRCm39) Y684N probably damaging Het
Akap9 C T 5: 4,042,077 (GRCm39) T1370I possibly damaging Het
Catsperb C A 12: 101,568,942 (GRCm39) Y871* probably null Het
Clcn4 T G 7: 7,293,427 (GRCm39) Y443S probably damaging Het
Clcn6 T A 4: 148,098,740 (GRCm39) T463S possibly damaging Het
Colec10 A G 15: 54,325,947 (GRCm39) D259G probably damaging Het
Ctnna2 A T 6: 77,613,827 (GRCm39) D254E possibly damaging Het
Depdc1a G A 3: 159,221,786 (GRCm39) probably null Het
Dlec1 T C 9: 118,966,408 (GRCm39) Y1126H probably damaging Het
Fezf2 A T 14: 12,343,986 (GRCm38) C302S probably damaging Het
Flnc T C 6: 29,451,634 (GRCm39) I1591T possibly damaging Het
Kidins220 A G 12: 25,107,143 (GRCm39) probably null Het
Mctp2 C A 7: 71,739,987 (GRCm39) C801F possibly damaging Het
Myo1e A G 9: 70,232,157 (GRCm39) I229V probably benign Het
Or5t17 A T 2: 86,833,266 (GRCm39) K318* probably null Het
Or8c17 G A 9: 38,180,757 (GRCm39) C308Y possibly damaging Het
Ppp3r1 T C 11: 17,144,786 (GRCm39) V133A probably damaging Het
Rif1 T A 2: 52,011,099 (GRCm39) Y2389N probably benign Het
Sidt1 A G 16: 44,102,249 (GRCm39) S304P possibly damaging Het
Siglecf T A 7: 43,004,995 (GRCm39) S408R possibly damaging Het
Stat5a T A 11: 100,765,752 (GRCm39) C279* probably null Het
Tas2r105 A G 6: 131,663,789 (GRCm39) V213A probably benign Het
Tasor2 T C 13: 3,634,554 (GRCm39) D751G probably damaging Het
Tektl1 T C 10: 78,588,727 (GRCm39) T28A probably benign Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Usp46 A G 5: 74,193,136 (GRCm39) Y47H probably damaging Het
Vmn1r34 T A 6: 66,614,688 (GRCm39) M17L probably benign Het
Vmn2r120 T A 17: 57,843,718 (GRCm39) D42V possibly damaging Het
Wdr20 A G 12: 110,759,950 (GRCm39) T279A probably benign Het
Zfyve1 A G 12: 83,641,296 (GRCm39) V120A probably benign 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
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
Predicted Primers PCR Primer
(F):5'- TATGGCCCTGGCATATGTGC -3'
(R):5'- TGTTCGTTGCTCAAATGATCTCG -3'

Sequencing Primer
(F):5'- TGTGCACCCTTCCTTAAATTAAATAC -3'
(R):5'- GTTGCTCAAATGATCTCGTTTCTG -3'
Posted On 2015-04-30