Incidental Mutation 'R6246:Aknad1'
ID 505760
Institutional Source Beutler Lab
Gene Symbol Aknad1
Ensembl Gene ENSMUSG00000049565
Gene Name AKNA domain containing 1
Synonyms 4921525H12Rik
MMRRC Submission 044436-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R6246 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 108646974-108689625 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108659148 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 54 (D54G)
Ref Sequence ENSEMBL: ENSMUSP00000125068 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000123556] [ENSMUST00000133931]
AlphaFold E9Q8N6
Predicted Effect probably damaging
Transcript: ENSMUST00000123556
AA Change: D54G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125068
Gene: ENSMUSG00000049565
AA Change: D54G

DomainStartEndE-ValueType
Pfam:AKNA 322 414 3.4e-44 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000133931
AA Change: D54G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000121755
Gene: ENSMUSG00000049565
AA Change: D54G

DomainStartEndE-ValueType
Pfam:AKNA 322 415 2.5e-35 PFAM
low complexity region 557 572 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150998
Meta Mutation Damage Score 0.3738 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 100% (78/78)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which contains a domain found in an AT-hook-containing transcription factor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T A 10: 79,850,999 (GRCm39) V2110E probably damaging Het
Acaca C A 11: 84,206,796 (GRCm39) T1552K probably benign Het
Ano1 T C 7: 144,187,462 (GRCm39) T435A possibly damaging Het
Azgp1 A G 5: 137,983,475 (GRCm39) D50G possibly damaging Het
Bbx A G 16: 50,045,023 (GRCm39) S513P probably benign Het
Ccdc85a C T 11: 28,526,897 (GRCm39) S209N probably damaging Het
Cdca2 T A 14: 67,915,277 (GRCm39) R661* probably null Het
Cdhr2 T C 13: 54,867,523 (GRCm39) V451A probably damaging Het
Cenpt C T 8: 106,575,891 (GRCm39) G152S possibly damaging Het
Chd9 A G 8: 91,659,045 (GRCm39) T2A probably damaging Het
Chst14 G A 2: 118,757,482 (GRCm39) C117Y probably damaging Het
Cic C T 7: 24,971,067 (GRCm39) T266M probably damaging Het
Clec12a A T 6: 129,330,733 (GRCm39) N105I possibly damaging Het
Cmah G A 13: 24,650,773 (GRCm39) V525M probably damaging Het
Cplane1 T A 15: 8,239,498 (GRCm39) L1233H probably damaging Het
Cpt1a T C 19: 3,426,550 (GRCm39) L572P probably damaging Het
Crybg2 T C 4: 133,816,657 (GRCm39) L1365P probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dlg1 G A 16: 31,484,468 (GRCm39) S32N probably benign Het
Dnah14 T C 1: 181,508,453 (GRCm39) I1877T probably benign Het
Duox1 G T 2: 122,157,655 (GRCm39) G594C probably damaging Het
Eci2 T C 13: 35,174,181 (GRCm39) N127D probably damaging Het
Ecpas A G 4: 58,811,365 (GRCm39) probably null Het
Fat4 T C 3: 38,945,870 (GRCm39) S1588P probably damaging Het
Fer1l4 T A 2: 155,866,902 (GRCm39) I1489F probably damaging Het
Flrt3 A G 2: 140,501,721 (GRCm39) Y636H probably damaging Het
Frmd5 T A 2: 121,381,529 (GRCm39) H62L possibly damaging Het
Gm6309 A T 5: 146,107,050 (GRCm39) Y99N probably damaging Het
Gm8225 T C 17: 26,762,652 (GRCm39) V281A probably benign Het
Grep1 C A 17: 23,929,465 (GRCm39) G315* probably null Het
Grsf1 A G 5: 88,810,451 (GRCm39) L353P possibly damaging Het
Gtf2a1l A G 17: 88,978,975 (GRCm39) R58G probably benign Het
Guf1 G A 5: 69,715,898 (GRCm39) G113R probably damaging Het
Hfe A T 13: 23,892,212 (GRCm39) F51I probably damaging Het
Hibch T C 1: 52,943,801 (GRCm39) S250P probably damaging Het
Il1rap T A 16: 26,533,631 (GRCm39) M509K probably benign Het
Il4ra T C 7: 125,175,577 (GRCm39) V595A probably benign Het
Ints11 A G 4: 155,972,546 (GRCm39) T460A probably benign Het
Itprid1 A T 6: 55,944,657 (GRCm39) K459N probably damaging Het
Kdm5a G A 6: 120,408,871 (GRCm39) G1518E probably damaging Het
Khsrp T C 17: 57,332,324 (GRCm39) D289G possibly damaging Het
Kif14 C T 1: 136,404,162 (GRCm39) Q29* probably null Het
Krt72 T C 15: 101,689,372 (GRCm39) K320R probably damaging Het
Lcmt2 A G 2: 120,970,870 (GRCm39) L71P probably damaging Het
Lmo7 A T 14: 102,156,136 (GRCm39) D1037V probably damaging Het
Lpo T C 11: 87,713,058 (GRCm39) T15A unknown Het
Mia3 G T 1: 183,126,720 (GRCm39) T7N probably damaging Het
Muc16 A T 9: 18,488,363 (GRCm39) probably null Het
Mup9 T A 4: 60,375,809 (GRCm39) Y29F probably damaging Het
Nisch T C 14: 30,894,516 (GRCm39) D1105G probably damaging Het
Odad1 A G 7: 45,585,788 (GRCm39) I116V probably damaging Het
Oip5 T C 2: 119,446,101 (GRCm39) T136A probably benign Het
Or2a52 G A 6: 43,144,436 (GRCm39) probably null Het
Osbpl10 C A 9: 115,055,842 (GRCm39) N532K probably benign Het
P2ry12 C T 3: 59,124,950 (GRCm39) V242I probably benign Het
Pdhx A T 2: 102,877,137 (GRCm39) C26S probably damaging Het
Pgk2 A T 17: 40,518,315 (GRCm39) I371K probably damaging Het
Phyhip T C 14: 70,704,495 (GRCm39) V238A probably damaging Het
Pla2g4a G A 1: 149,748,338 (GRCm39) T282I probably damaging Het
Pld5 A T 1: 175,791,475 (GRCm39) C448* probably null Het
Plk1 T A 7: 121,768,659 (GRCm39) I553N probably damaging Het
Ppp1r13l T A 7: 19,103,783 (GRCm39) I88K probably benign Het
Rad54l2 A G 9: 106,577,692 (GRCm39) probably null Het
Septin7 A G 9: 25,218,817 (GRCm39) E428G probably benign Het
Serpina3j G A 12: 104,283,706 (GRCm39) G268D probably damaging Het
Smc2 A T 4: 52,460,289 (GRCm39) D555V probably damaging Het
Spag16 A T 1: 69,962,980 (GRCm39) I376F probably benign Het
Spag6 G A 2: 18,703,906 (GRCm39) probably null Het
Tecta T C 9: 42,289,204 (GRCm39) I454V probably benign Het
Tlcd3b T A 7: 126,426,668 (GRCm39) F30L probably damaging Het
Tm9sf1 C T 14: 55,873,827 (GRCm39) R557H probably damaging Het
Traf5 C T 1: 191,754,853 (GRCm39) E28K probably damaging Het
Trav23 G A 14: 54,214,885 (GRCm39) E33K probably damaging Het
Trim32 T C 4: 65,532,801 (GRCm39) S453P probably damaging Het
Tssk1 A G 16: 17,713,303 (GRCm39) T363A probably benign Het
Txnrd3 A G 6: 89,628,523 (GRCm39) N88S probably benign Het
Unc13b A G 4: 43,216,246 (GRCm39) S182G probably benign Het
Vmn2r89 A T 14: 51,693,503 (GRCm39) R284S probably damaging Het
Zbtb14 A G 17: 69,694,478 (GRCm39) T59A possibly damaging Het
Zcchc2 T A 1: 105,957,796 (GRCm39) S756T possibly damaging Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) probably benign Het
Other mutations in Aknad1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00697:Aknad1 APN 3 108,682,324 (GRCm39) missense probably damaging 0.96
IGL01734:Aknad1 APN 3 108,659,217 (GRCm39) missense probably benign 0.05
IGL01877:Aknad1 APN 3 108,682,406 (GRCm39) missense probably damaging 0.99
IGL01964:Aknad1 APN 3 108,685,593 (GRCm39) missense probably benign
IGL03091:Aknad1 APN 3 108,659,219 (GRCm39) missense possibly damaging 0.76
IGL03172:Aknad1 APN 3 108,688,519 (GRCm39) missense possibly damaging 0.53
R0023:Aknad1 UTSW 3 108,688,501 (GRCm39) missense probably benign 0.00
R0023:Aknad1 UTSW 3 108,688,501 (GRCm39) missense probably benign 0.00
R0238:Aknad1 UTSW 3 108,688,555 (GRCm39) missense probably benign
R0238:Aknad1 UTSW 3 108,688,555 (GRCm39) missense probably benign
R0294:Aknad1 UTSW 3 108,682,508 (GRCm39) missense probably damaging 0.99
R0931:Aknad1 UTSW 3 108,659,339 (GRCm39) missense probably damaging 1.00
R1147:Aknad1 UTSW 3 108,659,857 (GRCm39) missense possibly damaging 0.89
R1147:Aknad1 UTSW 3 108,659,857 (GRCm39) missense possibly damaging 0.89
R1179:Aknad1 UTSW 3 108,659,783 (GRCm39) missense possibly damaging 0.78
R1579:Aknad1 UTSW 3 108,659,452 (GRCm39) nonsense probably null
R1746:Aknad1 UTSW 3 108,659,099 (GRCm39) missense possibly damaging 0.48
R2205:Aknad1 UTSW 3 108,664,609 (GRCm39) missense probably damaging 1.00
R2316:Aknad1 UTSW 3 108,688,472 (GRCm39) missense probably damaging 0.98
R2519:Aknad1 UTSW 3 108,663,784 (GRCm39) missense probably damaging 0.97
R3087:Aknad1 UTSW 3 108,664,179 (GRCm39) nonsense probably null
R4007:Aknad1 UTSW 3 108,682,598 (GRCm39) missense probably benign 0.33
R4716:Aknad1 UTSW 3 108,682,417 (GRCm39) critical splice donor site probably null
R4762:Aknad1 UTSW 3 108,682,547 (GRCm39) missense possibly damaging 0.86
R4852:Aknad1 UTSW 3 108,659,056 (GRCm39) missense probably damaging 0.99
R4910:Aknad1 UTSW 3 108,688,568 (GRCm39) critical splice donor site probably null
R5191:Aknad1 UTSW 3 108,659,867 (GRCm39) missense probably benign 0.11
R5191:Aknad1 UTSW 3 108,659,306 (GRCm39) missense probably benign 0.04
R5918:Aknad1 UTSW 3 108,659,703 (GRCm39) missense probably benign 0.00
R6730:Aknad1 UTSW 3 108,659,655 (GRCm39) missense possibly damaging 0.95
R7123:Aknad1 UTSW 3 108,682,560 (GRCm39) nonsense probably null
R7641:Aknad1 UTSW 3 108,679,291 (GRCm39) missense probably benign 0.41
R8181:Aknad1 UTSW 3 108,659,328 (GRCm39) missense possibly damaging 0.91
R8377:Aknad1 UTSW 3 108,689,255 (GRCm39) missense possibly damaging 0.53
R8430:Aknad1 UTSW 3 108,659,037 (GRCm39) missense possibly damaging 0.95
R8735:Aknad1 UTSW 3 108,682,615 (GRCm39) splice site probably benign
R9191:Aknad1 UTSW 3 108,664,093 (GRCm39) missense probably damaging 1.00
R9250:Aknad1 UTSW 3 108,664,143 (GRCm39) missense probably damaging 1.00
X0023:Aknad1 UTSW 3 108,659,493 (GRCm39) missense possibly damaging 0.47
Predicted Primers PCR Primer
(F):5'- TTTGAGCATTAAGAACACCAAGACC -3'
(R):5'- CCCTGAAGAATTGCTCTCCG -3'

Sequencing Primer
(F):5'- GAGGACCACGGACATCAGC -3'
(R):5'- TCTCCGGAGAGATGATGGAG -3'
Posted On 2018-02-28