Incidental Mutation 'R1264:Akna'
ID 151692
Institutional Source Beutler Lab
Gene Symbol Akna
Ensembl Gene ENSMUSG00000039158
Gene Name AT-hook transcription factor
Synonyms
MMRRC Submission 039331-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R1264 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 63285362-63321591 bp(-) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) T to C at 63299962 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: ENSMUST00000140586
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144095
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 100% (35/35)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T C 6: 142,592,103 (GRCm39) probably benign Het
Acadl A T 1: 66,896,712 (GRCm39) C27S probably benign Het
Adgrb3 C T 1: 25,598,931 (GRCm39) G258E probably damaging Het
Angpt2 T C 8: 18,791,233 (GRCm39) N21S probably benign Het
Ano6 A G 15: 95,847,447 (GRCm39) Y585C probably damaging Het
Ascc3 A T 10: 50,518,615 (GRCm39) probably benign Het
Clec10a T A 11: 70,060,567 (GRCm39) S103T possibly damaging Het
Clstn2 T C 9: 97,339,662 (GRCm39) R770G probably benign Het
Cndp2 C A 18: 84,696,916 (GRCm39) C95F possibly damaging Het
Col12a1 A G 9: 79,527,371 (GRCm39) V2653A probably benign Het
Col4a3 A T 1: 82,621,022 (GRCm39) probably benign Het
Daam1 A G 12: 72,022,085 (GRCm39) probably benign Het
H2-M9 A G 17: 36,953,484 (GRCm39) V18A probably benign Het
Heatr1 T A 13: 12,439,491 (GRCm39) probably benign Het
Impg1 T C 9: 80,221,675 (GRCm39) D715G probably benign Het
Incenp T C 19: 9,861,379 (GRCm39) K425E unknown Het
Kif13b T C 14: 65,013,681 (GRCm39) probably benign Het
Msh2 T A 17: 88,014,607 (GRCm39) probably null Het
Myh2 A G 11: 67,071,604 (GRCm39) N474D probably damaging Het
Myo18b T C 5: 112,978,185 (GRCm39) T1246A probably benign Het
Nob1 T C 8: 108,148,136 (GRCm39) H102R probably damaging Het
Or4z4 G T 19: 12,076,198 (GRCm39) D268E probably benign Het
Pard3b A T 1: 62,203,316 (GRCm39) I415F probably damaging Het
Pfkl T G 10: 77,829,250 (GRCm39) K386T possibly damaging Het
Plekhs1 T C 19: 56,474,195 (GRCm39) V447A probably benign Het
Poli C T 18: 70,650,574 (GRCm39) V266I probably benign Het
Rapgef4 A T 2: 71,861,449 (GRCm39) K46N possibly damaging Het
Shisa6 T C 11: 66,265,975 (GRCm39) probably benign Het
Six3 T A 17: 85,929,285 (GRCm39) D206E probably damaging Het
Slc12a1 A T 2: 125,060,158 (GRCm39) E944D possibly damaging Het
Sptb A G 12: 76,659,381 (GRCm39) F1173S probably damaging Het
Tfdp1 C A 8: 13,423,837 (GRCm39) probably benign Het
Trrap A G 5: 144,726,409 (GRCm39) probably benign Het
Wbp11 A G 6: 136,791,513 (GRCm39) 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
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
Predicted Primers PCR Primer
(F):5'- GACTGCCCTTCACTTCCATAGAGC -3'
(R):5'- AGAGATATACCACCTGGGACAGCG -3'

Sequencing Primer
(F):5'- ATTCAGAAaactccgtaagggc -3'
(R):5'- AGCGCCTGGAAGAGCTAC -3'
Posted On 2014-01-29