Incidental Mutation 'R0023:Aknad1'
ID15202
Institutional Source Beutler Lab
Gene Symbol Aknad1
Ensembl Gene ENSMUSG00000049565
Gene NameAKNA domain containing 1
Synonyms4921525H12Rik
MMRRC Submission 038318-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #R0023 (G1)
Quality Score
Status Validated
Chromosome3
Chromosomal Location108739658-108782309 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 108781185 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 610 (C610S)
Ref Sequence ENSEMBL: ENSMUSP00000121755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000133931]
Predicted Effect probably benign
Transcript: ENSMUST00000133931
AA Change: C610S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000121755
Gene: ENSMUSG00000049565
AA Change: C610S

DomainStartEndE-ValueType
Pfam:AKNA 322 415 2.5e-35 PFAM
low complexity region 557 572 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 78.2%
  • 3x: 67.5%
  • 10x: 40.9%
  • 20x: 21.9%
Validation Efficiency 89% (77/87)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430007A20Rik A C 4: 144,528,997 D329A probably damaging Het
9530053A07Rik A G 7: 28,153,412 K1375E probably benign Het
Abcc12 T A 8: 86,538,333 H661L probably damaging Het
Acsbg2 C G 17: 56,847,710 A481P probably damaging Het
Anapc1 T A 2: 128,678,218 K226N probably damaging Het
Aqp11 A T 7: 97,726,689 I251N possibly damaging Het
Arid1a G T 4: 133,691,176 T1032K unknown Het
Atg16l1 T C 1: 87,789,465 V538A probably benign Het
Atp7b A T 8: 22,011,073 L938Q probably damaging Het
Bbs1 C T 19: 4,906,014 A44T probably damaging Het
Btbd9 A T 17: 30,530,214 V42E probably damaging Het
Carmil3 C G 14: 55,492,876 S15R probably damaging Het
Cfap44 T A 16: 44,421,220 F651L probably benign Het
Clcn3 A T 8: 60,933,070 probably benign Het
Copb1 A T 7: 114,250,094 D91E probably benign Het
Ctr9 G A 7: 111,043,947 A509T possibly damaging Het
Dst C T 1: 34,189,119 P1606L probably damaging Het
Emc1 A G 4: 139,371,009 D767G probably damaging Het
Fads1 G A 19: 10,186,897 probably benign Het
Frrs1 T C 3: 116,896,788 F27L probably damaging Het
Itga2 G A 13: 114,870,496 S432L possibly damaging Het
Lrig3 A C 10: 126,010,219 D839A probably damaging Het
Macf1 A T 4: 123,488,314 probably benign Het
Myo6 T C 9: 80,283,534 V789A possibly damaging Het
Nasp A G 4: 116,605,771 probably benign Het
Nsmaf A G 4: 6,408,680 Y700H probably damaging Het
Plekhs1 T G 19: 56,478,516 S260A probably damaging Het
Ptpro T A 6: 137,443,594 V1007D probably damaging Het
R3hdm1 T C 1: 128,211,192 probably benign Het
Rtcb A T 10: 85,949,451 probably benign Het
Suco A T 1: 161,845,585 probably null Het
Synrg G T 11: 84,008,653 D562Y probably damaging Het
Tfip11 T C 5: 112,332,009 S265P possibly damaging Het
Ucp3 G T 7: 100,485,043 V288L probably benign Het
Xylt1 G T 7: 117,634,701 G485V probably damaging Het
Yars A G 4: 129,197,188 T130A probably benign Het
Zfp652 A T 11: 95,753,469 R205* probably null Het
Other mutations in Aknad1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00697:Aknad1 APN 3 108775008 missense probably damaging 0.96
IGL01734:Aknad1 APN 3 108751901 missense probably benign 0.05
IGL01877:Aknad1 APN 3 108775090 missense probably damaging 0.99
IGL01964:Aknad1 APN 3 108778277 missense probably benign
IGL03091:Aknad1 APN 3 108751903 missense possibly damaging 0.76
IGL03172:Aknad1 APN 3 108781203 missense possibly damaging 0.53
R0023:Aknad1 UTSW 3 108781185 missense probably benign 0.00
R0238:Aknad1 UTSW 3 108781239 missense probably benign
R0238:Aknad1 UTSW 3 108781239 missense probably benign
R0294:Aknad1 UTSW 3 108775192 missense probably damaging 0.99
R0931:Aknad1 UTSW 3 108752023 missense probably damaging 1.00
R1147:Aknad1 UTSW 3 108752541 missense possibly damaging 0.89
R1147:Aknad1 UTSW 3 108752541 missense possibly damaging 0.89
R1179:Aknad1 UTSW 3 108752467 missense possibly damaging 0.78
R1579:Aknad1 UTSW 3 108752136 nonsense probably null
R1746:Aknad1 UTSW 3 108751783 missense possibly damaging 0.48
R2205:Aknad1 UTSW 3 108757293 missense probably damaging 1.00
R2316:Aknad1 UTSW 3 108781156 missense probably damaging 0.98
R2519:Aknad1 UTSW 3 108756468 missense probably damaging 0.97
R3087:Aknad1 UTSW 3 108756863 nonsense probably null
R4007:Aknad1 UTSW 3 108775282 missense probably benign 0.33
R4716:Aknad1 UTSW 3 108775101 critical splice donor site probably null
R4762:Aknad1 UTSW 3 108775231 missense possibly damaging 0.86
R4852:Aknad1 UTSW 3 108751740 missense probably damaging 0.99
R4910:Aknad1 UTSW 3 108781252 critical splice donor site probably null
R5191:Aknad1 UTSW 3 108751990 missense probably benign 0.04
R5191:Aknad1 UTSW 3 108752551 missense probably benign 0.11
R5918:Aknad1 UTSW 3 108752387 missense probably benign 0.00
R6246:Aknad1 UTSW 3 108751832 missense probably damaging 1.00
R6730:Aknad1 UTSW 3 108752339 missense possibly damaging 0.95
R7123:Aknad1 UTSW 3 108775244 nonsense probably null
R7641:Aknad1 UTSW 3 108771975 missense probably benign 0.41
R8181:Aknad1 UTSW 3 108752012 missense possibly damaging 0.91
R8377:Aknad1 UTSW 3 108781939 missense possibly damaging 0.53
X0023:Aknad1 UTSW 3 108752177 missense possibly damaging 0.47
Posted On2012-12-12