Incidental Mutation 'R3552:Akna'
ID 268978
Institutional Source Beutler Lab
Gene Symbol Akna
Ensembl Gene ENSMUSG00000039158
Gene Name AT-hook transcription factor
Synonyms
MMRRC Submission 040669-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R3552 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 63285362-63321591 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to C at 63316361 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1 (M1V)
Ref Sequence ENSEMBL: ENSMUSP00000041614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035724]
AlphaFold Q80VW7
Predicted Effect probably null
Transcript: ENSMUST00000035724
AA Change: M1V

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000041614
Gene: ENSMUSG00000039158
AA Change: M1V

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
Meta Mutation Damage Score 0.9622 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.4%
Validation Efficiency 100% (66/66)
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
Acaca T A 11: 84,152,450 (GRCm39) Y866N probably damaging Het
Agk A G 6: 40,371,615 (GRCm39) T371A probably benign Het
Aldh7a1 T C 18: 56,683,364 (GRCm39) probably null Het
Ankrd26 A T 6: 118,484,737 (GRCm39) L1500H probably damaging Het
Atp13a5 T A 16: 29,129,584 (GRCm39) D452V probably damaging Het
Bahcc1 C T 11: 120,167,598 (GRCm39) T1333M possibly damaging Het
Carmil3 G T 14: 55,744,859 (GRCm39) R1276L possibly damaging Het
Ccni T C 5: 93,335,620 (GRCm39) S173G probably benign Het
Chrm2 A T 6: 36,500,745 (GRCm39) I201F probably damaging Het
Col16a1 A G 4: 129,970,834 (GRCm39) T618A probably benign Het
Dele1 A G 18: 38,391,418 (GRCm39) probably benign Het
Dock2 T C 11: 34,611,787 (GRCm39) Y192C probably benign Het
Ep400 T A 5: 110,877,153 (GRCm39) E821V unknown Het
Esrrg G A 1: 187,882,387 (GRCm39) V215I probably benign Het
Evx1 A T 6: 52,293,908 (GRCm39) S359C probably damaging Het
Fcrl2 A G 3: 87,166,717 (GRCm39) I92T possibly damaging Het
Gal3st1 T A 11: 3,948,110 (GRCm39) F106I possibly damaging Het
Gm9944 T C 4: 144,179,613 (GRCm39) probably benign Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hrc G C 7: 44,985,757 (GRCm39) E303Q possibly damaging Het
Kcnh1 A G 1: 191,921,074 (GRCm39) N118D probably damaging Het
Khdrbs1 A G 4: 129,614,584 (GRCm39) I323T possibly damaging Het
Klhdc7b T C 15: 89,271,724 (GRCm39) Y869H probably benign Het
Lrrc4c T A 2: 97,460,306 (GRCm39) W311R probably damaging Het
Megf11 A G 9: 64,602,745 (GRCm39) D862G possibly damaging Het
Muc5b A G 7: 141,415,072 (GRCm39) T2673A possibly damaging Het
Muc5b A G 7: 141,421,442 (GRCm39) S4311G probably benign Het
Myo15a C T 11: 60,400,489 (GRCm39) A1767V possibly damaging Het
Neo1 T A 9: 58,801,161 (GRCm39) K1140M probably damaging Het
Oc90 T C 15: 65,750,650 (GRCm39) Q365R possibly damaging Het
Oplah C T 15: 76,186,294 (GRCm39) D734N possibly damaging Het
Or1e19 T C 11: 73,316,678 (GRCm39) I44V probably benign Het
Or4c58 A C 2: 89,674,687 (GRCm39) M210R possibly damaging Het
Or9g3 T C 2: 85,590,237 (GRCm39) N161S possibly damaging Het
Pbx1 G A 1: 167,986,362 (GRCm39) P411L possibly damaging Het
Pcdhga6 G T 18: 37,841,270 (GRCm39) R330L probably benign Het
Phox2b C A 5: 67,254,999 (GRCm39) R150L probably damaging Het
Plscr2 A G 9: 92,172,848 (GRCm39) E169G probably damaging Het
Ptprn2 A T 12: 116,852,497 (GRCm39) Q518L probably benign Het
Rbl1 A T 2: 157,037,505 (GRCm39) I214K probably benign Het
Ryr1 T A 7: 28,756,422 (GRCm39) Q3464L probably damaging Het
Ryr3 T A 2: 112,582,132 (GRCm39) I2854F probably damaging Het
Shtn1 T C 19: 58,963,470 (GRCm39) Y615C probably benign Het
Sirt5 A T 13: 43,536,643 (GRCm39) N226Y probably damaging Het
Slc30a3 G A 5: 31,252,422 (GRCm39) probably benign Het
Slc5a4b A G 10: 75,917,358 (GRCm39) V226A probably damaging Het
Slf2 C A 19: 44,923,390 (GRCm39) S68* probably null Het
Smyd5 G A 6: 85,419,193 (GRCm39) E292K probably damaging Het
Spns1 A G 7: 125,969,543 (GRCm39) V512A possibly damaging Het
Sry T A Y: 2,663,141 (GRCm39) Q173L unknown Het
Ssrp1 C A 2: 84,874,736 (GRCm39) Q519K probably benign Het
Tgfbr3 T C 5: 107,287,705 (GRCm39) E498G probably damaging Het
Tnrc6b T G 15: 80,764,448 (GRCm39) L650W probably damaging Het
Tnxb A T 17: 34,937,695 (GRCm39) E3861D probably damaging Het
Trbc1 G T 6: 41,516,579 (GRCm39) probably benign Het
Trpm7 T A 2: 126,668,630 (GRCm39) probably benign Het
Usp39 G A 6: 72,314,815 (GRCm39) T197I possibly damaging Het
Vmn1r38 T C 6: 66,753,477 (GRCm39) H213R possibly damaging Het
Washc2 A G 6: 116,197,529 (GRCm39) D168G probably damaging Het
Washc4 A G 10: 83,382,720 (GRCm39) I45V probably benign Het
Zfp352 A G 4: 90,113,339 (GRCm39) E493G probably benign Het
Zfp692 C T 11: 58,200,254 (GRCm39) T170I possibly damaging Het
Zfp735 C A 11: 73,602,067 (GRCm39) S337* probably null 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
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'- TTCGGAGTCCTGCATGTCTG -3'
(R):5'- GATGAGTTCCTGGACGGATG -3'

Sequencing Primer
(F):5'- ATGTCTGGGTCCCACTCCAG -3'
(R):5'- CTGGACGGATGGTGGAAGACTC -3'
Posted On 2015-02-19