Incidental Mutation 'R3087:Aknad1'
ID 262853
Institutional Source Beutler Lab
Gene Symbol Aknad1
Ensembl Gene ENSMUSG00000049565
Gene Name AKNA domain containing 1
Synonyms 4921525H12Rik
MMRRC Submission 040576-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R3087 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 108646974-108689625 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 108664179 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 381 (Q381*)
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: Q381*
SMART Domains Protein: ENSMUSP00000125068
Gene: ENSMUSG00000049565
AA Change: Q381*

DomainStartEndE-ValueType
Pfam:AKNA 322 414 3.4e-44 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000133931
AA Change: Q381*
SMART Domains Protein: ENSMUSP00000121755
Gene: ENSMUSG00000049565
AA Change: Q381*

DomainStartEndE-ValueType
Pfam:AKNA 322 415 2.5e-35 PFAM
low complexity region 557 572 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147916
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150998
Meta Mutation Damage Score 0.9754 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 97% (29/30)
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef39 C T 4: 43,497,581 (GRCm39) probably null Het
Cblif A T 19: 11,737,737 (GRCm39) K383* probably null Het
Ccdc85a G T 11: 28,342,857 (GRCm39) C113* probably null Het
Cdc16 T C 8: 13,809,004 (GRCm39) Y19H probably damaging Het
Ces2e T A 8: 105,657,347 (GRCm39) M289K probably benign Het
Cyp2u1 G A 3: 131,096,676 (GRCm39) A34V probably benign Het
Dkk2 A C 3: 131,791,900 (GRCm39) N36T probably damaging Het
Fam222a A G 5: 114,750,015 (GRCm39) S404G probably damaging Het
Fbll1 A T 11: 35,689,017 (GRCm39) V82E probably damaging Het
Flt3 A G 5: 147,284,856 (GRCm39) S754P probably benign Het
Fmo5 T C 3: 97,549,011 (GRCm39) W220R probably damaging Het
Gm7275 A G 16: 47,894,098 (GRCm39) noncoding transcript Het
Gmeb2 G T 2: 180,897,433 (GRCm39) probably benign Het
Ifi44l T C 3: 151,468,494 (GRCm39) H12R unknown Het
Itsn2 T C 12: 4,716,303 (GRCm39) Y1021H probably damaging Het
Map4 T C 9: 109,882,257 (GRCm39) S374P possibly damaging Het
Map4k4 A T 1: 40,060,242 (GRCm39) probably null Het
Mast4 G T 13: 102,990,434 (GRCm39) probably benign Het
Mdfic T A 6: 15,799,668 (GRCm39) L265H probably damaging Het
Pabpc2 A G 18: 39,907,319 (GRCm39) I195V probably benign Het
Pramel25 A G 4: 143,520,416 (GRCm39) D56G probably benign Het
Prdm1 T C 10: 44,322,823 (GRCm39) Y224C probably damaging Het
Spidr T C 16: 15,786,483 (GRCm39) Y420C probably damaging Het
Tlr6 A T 5: 65,111,668 (GRCm39) M413K probably damaging Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Vmn1r11 A C 6: 57,114,691 (GRCm39) K81N possibly damaging Het
Vmn2r107 G A 17: 20,580,607 (GRCm39) E515K probably benign Het
Vstm4 T C 14: 32,614,592 (GRCm39) V178A 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
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
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'- CTGATTGGCACAGACTCTTATTTG -3'
(R):5'- TTCATTCACAGCATGGCCTC -3'

Sequencing Primer
(F):5'- GAATGTTAGCTAAACTTGGCCTTC -3'
(R):5'- TGGCAACCAGAGCTTGATTC -3'
Posted On 2015-02-05