Incidental Mutation 'R1579:Aknad1'
ID 171272
Institutional Source Beutler Lab
Gene Symbol Aknad1
Ensembl Gene ENSMUSG00000049565
Gene Name AKNA domain containing 1
Synonyms 4921525H12Rik
MMRRC Submission 039616-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R1579 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 108646974-108689625 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 108659452 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 155 (Y155*)
Ref Sequence ENSEMBL: ENSMUSP00000121755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000123556] [ENSMUST00000133931]
AlphaFold E9Q8N6
Predicted Effect probably null
Transcript: ENSMUST00000123556
AA Change: Y155*
SMART Domains Protein: ENSMUSP00000125068
Gene: ENSMUSG00000049565
AA Change: Y155*

DomainStartEndE-ValueType
Pfam:AKNA 322 414 3.4e-44 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000133931
AA Change: Y155*
SMART Domains Protein: ENSMUSP00000121755
Gene: ENSMUSG00000049565
AA Change: Y155*

DomainStartEndE-ValueType
Pfam:AKNA 322 415 2.5e-35 PFAM
low complexity region 557 572 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150998
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.8%
Validation Efficiency
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700037C18Rik T C 16: 3,724,039 (GRCm39) R162G probably benign Het
Adamtsl4 T A 3: 95,592,807 (GRCm39) probably benign Het
Adgrv1 A T 13: 81,711,898 (GRCm39) L306H probably damaging Het
Aldh6a1 C T 12: 84,488,622 (GRCm39) R88H possibly damaging Het
Apc2 G C 10: 80,147,179 (GRCm39) K715N probably damaging Het
Arhgap45 G A 10: 79,864,811 (GRCm39) V798M probably damaging Het
Calcrl T C 2: 84,163,881 (GRCm39) T437A probably benign Het
Cdan1 A G 2: 120,561,220 (GRCm39) F183L probably damaging Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Cntnap4 A G 8: 113,608,462 (GRCm39) E1294G possibly damaging Het
Crybg3 C A 16: 59,350,561 (GRCm39) G2607V probably damaging Het
Dhx29 G T 13: 113,072,132 (GRCm39) probably null Het
Dmrtb1 T A 4: 107,541,322 (GRCm39) H13L probably damaging Het
Echdc2 A G 4: 108,031,006 (GRCm39) M162V probably benign Het
Entpd8 A G 2: 24,974,986 (GRCm39) D439G possibly damaging Het
Fastkd2 C G 1: 63,785,046 (GRCm39) H477Q probably null Het
Fbrs A G 7: 127,084,529 (GRCm39) E517G probably damaging Het
Gchfr A G 2: 119,002,502 (GRCm39) T71A possibly damaging Het
Hecw1 A T 13: 14,552,492 (GRCm39) C35S probably damaging Het
Izumo1r C T 9: 14,813,098 (GRCm39) R58H probably benign Het
Kif13a T C 13: 46,906,332 (GRCm39) E537G possibly damaging Het
Kif13b G A 14: 65,019,790 (GRCm39) probably null Het
Kremen1 CGGG CGGGGGG 11: 5,151,791 (GRCm39) probably benign Het
Lnpk A T 2: 74,378,340 (GRCm39) D140E probably damaging Het
Ltbp1 A G 17: 75,559,362 (GRCm39) M284V probably benign Het
Me3 A T 7: 89,495,050 (GRCm39) T323S possibly damaging Het
Mtus1 A G 8: 41,535,895 (GRCm39) V607A probably damaging Het
Myh14 A T 7: 44,305,118 (GRCm39) probably null Het
Myo1h T A 5: 114,485,496 (GRCm39) C545* probably null Het
Nbn T A 4: 15,964,289 (GRCm39) D121E probably damaging Het
Nox4 A G 7: 87,019,231 (GRCm39) Y408C probably damaging Het
Nup214 C T 2: 31,924,478 (GRCm39) S1669F probably damaging Het
Or10q1b A G 19: 13,682,566 (GRCm39) D125G probably damaging Het
Or52d3 T A 7: 104,229,268 (GRCm39) Y138* probably null Het
Or5w20 G A 2: 87,727,286 (GRCm39) A248T probably benign Het
Osbpl5 T C 7: 143,262,939 (GRCm39) T150A possibly damaging Het
Pgap3 C A 11: 98,280,879 (GRCm39) M265I probably benign Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Pkd2l2 A T 18: 34,560,446 (GRCm39) N351I possibly damaging Het
Prkdc T A 16: 15,493,192 (GRCm39) Y700N probably benign Het
Pzp A G 6: 128,500,931 (GRCm39) probably null Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Rptor A T 11: 119,786,827 (GRCm39) Q1264L probably benign Het
Scnn1a T C 6: 125,299,103 (GRCm39) F61S probably damaging Het
Tenm2 C A 11: 35,997,610 (GRCm39) W825C probably damaging Het
Tex264 A T 9: 106,559,116 (GRCm39) I70N possibly damaging Het
Tns2 G T 15: 102,019,645 (GRCm39) D504Y probably damaging Het
Trappc14 T C 5: 138,260,128 (GRCm39) I338V probably benign Het
Trpc2 T A 7: 101,733,447 (GRCm39) F132Y probably damaging Het
Trpm4 A G 7: 44,958,021 (GRCm39) F816S probably damaging Het
Uqcc1 G A 2: 155,763,641 (GRCm39) Q5* probably null Het
Usp36 G T 11: 118,175,771 (GRCm39) T130N probably damaging Het
Vav1 A G 17: 57,604,252 (GRCm39) M165V probably benign Het
Vmn1r64 A T 7: 5,886,803 (GRCm39) F247I probably damaging Het
Vmn2r26 G C 6: 124,016,706 (GRCm39) R390P probably benign Het
Vmn2r57 G T 7: 41,049,548 (GRCm39) H734N probably benign Het
Wfdc16 G T 2: 164,477,843 (GRCm39) H69N possibly damaging Het
Zfp316 C T 5: 143,239,317 (GRCm39) E901K probably damaging Het
Zfp334 T C 2: 165,223,719 (GRCm39) E108G probably damaging Het
Zfp407 T C 18: 84,227,763 (GRCm39) S1949G probably benign Het
Zfp408 A G 2: 91,476,473 (GRCm39) L227P probably benign Het
Zfp560 T C 9: 20,259,287 (GRCm39) H525R possibly damaging Het
Zfp609 G A 9: 65,611,754 (GRCm39) A403V possibly damaging 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
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
R6246:Aknad1 UTSW 3 108,659,148 (GRCm39) missense probably damaging 1.00
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'- AAGTGGCTTCTAACTGTGAGGTGC -3'
(R):5'- AAAGCTTGGATCTTCCTGATGGGTG -3'

Sequencing Primer
(F):5'- GATAAGCAATGCGCCCTG -3'
(R):5'- GTGCTCTTCCCAGCAGC -3'
Posted On 2014-04-13