Incidental Mutation 'R1147:Aknad1'
ID102475
Institutional Source Beutler Lab
Gene Symbol Aknad1
Ensembl Gene ENSMUSG00000049565
Gene NameAKNA domain containing 1
Synonyms4921525H12Rik
MMRRC Submission 039220-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock #R1147 (G1)
Quality Score225
Status Not validated
Chromosome3
Chromosomal Location108739658-108782309 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 108752541 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 290 (N290K)
Ref Sequence ENSEMBL: ENSMUSP00000121755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000123556] [ENSMUST00000133931]
Predicted Effect possibly damaging
Transcript: ENSMUST00000123556
AA Change: N290K

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000125068
Gene: ENSMUSG00000049565
AA Change: N290K

DomainStartEndE-ValueType
Pfam:AKNA 322 414 3.4e-44 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000133931
AA Change: N290K

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121755
Gene: ENSMUSG00000049565
AA Change: N290K

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 0.1795 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 97.7%
  • 10x: 89.5%
  • 20x: 66.1%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530032D15Rik C G 1: 85,099,505 K113N probably benign Het
Adam20 T C 8: 40,795,618 I255T possibly damaging Het
Als2cr12 A T 1: 58,669,463 Y215N probably damaging Het
Ano8 C A 8: 71,482,017 V447F probably damaging Het
Arsi G A 18: 60,916,651 G202E probably benign Het
Ash1l A T 3: 88,984,887 M1358L possibly damaging Het
Ccdc110 A G 8: 45,944,084 K837E possibly damaging Het
Cd19 T A 7: 126,411,045 D384V possibly damaging Het
Ces1f C T 8: 93,258,281 V473I possibly damaging Het
Chd6 C T 2: 160,990,271 E994K probably damaging Het
Col5a2 G T 1: 45,376,771 N1405K probably damaging Het
Dnah7b A G 1: 46,340,266 D3720G probably damaging Het
Dsel T C 1: 111,862,209 T199A possibly damaging Het
Fabp3 C T 4: 130,312,387 T57I probably benign Het
Hrg G T 16: 22,961,004 C344F probably damaging Het
Htt T C 5: 34,851,252 Y1462H probably damaging Het
Kcnh2 T A 5: 24,324,387 I784F probably damaging Het
Kifc3 T C 8: 95,137,918 T55A probably damaging Het
Kirrel C T 3: 87,089,151 M380I probably null Het
Olfr434 A T 6: 43,217,212 T100S probably damaging Het
Olfr692 G A 7: 105,369,277 R308Q probably benign Het
Oog3 A G 4: 144,158,412 F318S possibly damaging Het
Pde5a C T 3: 122,794,313 T376M probably damaging Het
Pkhd1l1 A G 15: 44,537,441 I2204V probably null Het
Ppp1r13l A G 7: 19,375,847 D731G probably damaging Het
Ptk6 C T 2: 181,195,797 G443D probably benign Het
Ptpro T A 6: 137,443,594 V1007D probably damaging Het
Ptprs T C 17: 56,423,504 D749G probably damaging Het
Ralgapa1 A T 12: 55,702,480 D1212E probably damaging Het
Rsad1 T C 11: 94,544,140 Y290C probably damaging Het
Sfi1 CCTCTC CCTCTCTC 11: 3,177,419 probably benign Het
Slc6a11 T A 6: 114,244,870 I507N possibly damaging Het
Sybu A T 15: 44,746,255 F78I probably damaging Het
Tox A T 4: 6,823,055 N87K possibly damaging Het
Trrap G A 5: 144,804,766 G1308R probably damaging Het
Trub2 A G 2: 29,787,632 probably benign Het
Vmn2r114 A T 17: 23,311,063 H123Q probably benign Het
Vmn2r15 T A 5: 109,293,206 Y262F probably damaging Het
Vmn2r33 C T 7: 7,554,145 E519K probably benign Het
Zfp106 A T 2: 120,520,536 C1545S probably damaging 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
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
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
R8430:Aknad1 UTSW 3 108751721 missense possibly damaging 0.95
X0023:Aknad1 UTSW 3 108752177 missense possibly damaging 0.47
Predicted Primers
Posted On2014-01-15