Incidental Mutation 'R9687:Akna'
ID 728898
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 # R9687 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 63285362-63321591 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 63292674 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 1078 (C1078*)
Ref Sequence ENSEMBL: ENSMUSP00000041614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035724]
AlphaFold Q80VW7
Predicted Effect probably null
Transcript: ENSMUST00000035724
AA Change: C1078*
SMART Domains Protein: ENSMUSP00000041614
Gene: ENSMUSG00000039158
AA Change: C1078*

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 A G 11: 48,839,249 (GRCm39) L446P probably damaging Het
Abcc9 T C 6: 142,578,889 (GRCm39) T927A probably benign Het
Abraxas2 A G 7: 132,482,577 (GRCm39) T258A probably benign Het
Arhgap24 T A 5: 102,994,022 (GRCm39) F34L probably benign Het
Cpa5 C T 6: 30,614,041 (GRCm39) T61I probably benign Het
Crebrf A G 17: 26,982,601 (GRCm39) *654W probably null Het
Dchs1 C A 7: 105,407,191 (GRCm39) R2134L probably damaging Het
Dcps T C 9: 35,035,978 (GRCm39) N303D probably damaging Het
Ddhd1 C T 14: 45,848,190 (GRCm39) E527K probably damaging Het
Dnah14 T A 1: 181,425,978 (GRCm39) M174K probably benign Het
Ehd1 A G 19: 6,348,330 (GRCm39) D436G Het
Entrep1 A G 19: 23,957,029 (GRCm39) I327T probably damaging Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Etv1 T C 12: 38,911,361 (GRCm39) Y396H probably damaging Het
Fbxo11 A G 17: 88,316,494 (GRCm39) I293T Het
Gcfc2 T A 6: 81,918,323 (GRCm39) S338T probably damaging Het
Gm10272 T C 10: 77,542,764 (GRCm39) V102A possibly damaging Het
Gm11110 T C 17: 57,410,439 (GRCm39) T20A unknown Het
Gna14 G A 19: 16,582,350 (GRCm39) R206Q Het
Gpm6a T C 8: 55,503,209 (GRCm39) Y153H possibly damaging Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
H2-M10.6 G A 17: 37,125,147 (GRCm39) V313I probably benign Het
Igkv8-19 T C 6: 70,318,005 (GRCm39) I74V probably benign Het
Kif24 A G 4: 41,428,546 (GRCm39) L138P probably damaging Het
Kif26a A G 12: 112,143,625 (GRCm39) E1293G probably damaging Het
Lrp1 A C 10: 127,402,562 (GRCm39) L2203R probably damaging Het
Ms4a6b A G 19: 11,497,806 (GRCm39) D35G possibly damaging Het
Myo1h A T 5: 114,458,769 (GRCm39) D184V Het
Ncdn G A 4: 126,642,467 (GRCm39) R397W probably damaging Het
Ncor1 A T 11: 62,260,193 (GRCm39) I519N possibly damaging Het
Obsl1 A G 1: 75,479,670 (GRCm39) V575A probably damaging Het
Or2y15 T C 11: 49,350,518 (GRCm39) F4S probably benign Het
Or5m8 G T 2: 85,822,220 (GRCm39) V20L probably benign Het
Or7a35 T A 10: 78,853,843 (GRCm39) I229N probably damaging Het
Osbpl5 A G 7: 143,247,598 (GRCm39) Y747H possibly damaging Het
Pcdh18 T A 3: 49,711,036 (GRCm39) D93V probably damaging Het
Ppef2 T A 5: 92,386,746 (GRCm39) D397V probably benign Het
Ppfia4 G A 1: 134,245,694 (GRCm39) T620I probably benign Het
Ppp1r9a T C 6: 4,905,978 (GRCm39) S178P probably damaging Het
Ptchd4 A G 17: 42,813,467 (GRCm39) Y456C probably damaging Het
Pxk A G 14: 8,151,567 (GRCm38) I461V possibly damaging Het
Rab18 T A 18: 6,784,622 (GRCm39) N104K probably benign Het
Sars1 A G 3: 108,343,221 (GRCm39) L90P probably benign Het
Scaf8 T A 17: 3,221,410 (GRCm39) I299N unknown Het
Sh3bp2 C T 5: 34,716,977 (GRCm39) P463S probably benign Het
Slc12a3 A G 8: 95,075,208 (GRCm39) N734S possibly damaging Het
Slc12a7 G T 13: 73,938,796 (GRCm39) R191L probably damaging Het
Slc7a12 A G 3: 14,545,960 (GRCm39) Y35C possibly damaging Het
Spmip2 G A 3: 79,337,299 (GRCm39) D36N possibly damaging Het
Susd4 A G 1: 182,722,762 (GRCm39) probably null Het
Taar7f G A 10: 23,925,727 (GRCm39) R107K probably benign Het
Tarm1 T C 7: 3,544,457 (GRCm39) T237A probably benign Het
Tshr C A 12: 91,504,439 (GRCm39) A459E probably damaging Het
Tubgcp5 G T 7: 55,475,327 (GRCm39) probably null Het
Unc13b T C 4: 43,174,920 (GRCm39) V1916A unknown Het
Unc45b A G 11: 82,810,562 (GRCm39) D274G probably damaging Het
Vmn1r230 T A 17: 21,067,604 (GRCm39) Y264* probably null Het
Vmn2r109 G T 17: 20,775,332 (GRCm39) Q132K Het
Zbtb20 A G 16: 43,430,160 (GRCm39) S151G possibly damaging Het
Zbtb22 A C 17: 34,136,850 (GRCm39) T332P probably damaging Het
Zc3h6 A G 2: 128,859,281 (GRCm39) D1104G probably damaging Het
Zfp748 A G 13: 67,690,471 (GRCm39) V263A probably benign Het
Zhx3 A C 2: 160,623,678 (GRCm39) V163G 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
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
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'- GGAGAGTATAGTGTCTGAGTCCC -3'
(R):5'- GTCAAGGCTGTTGTTACTGGAC -3'

Sequencing Primer
(F):5'- ATAGTGTCTGAGTCCCTGTGCC -3'
(R):5'- GTTACTGGACTGTACAGCCCGATC -3'
Posted On 2022-10-06