Incidental Mutation 'R0143:Ankrd1'
ID 22478
Institutional Source Beutler Lab
Gene Symbol Ankrd1
Ensembl Gene ENSMUSG00000024803
Gene Name ankyrin repeat domain 1
Synonyms CARP, Alrp, MARP1, Crap
MMRRC Submission 038428-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0143 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 19
Chromosomal Location 36089365-36097244 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 36096713 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 38 (A38V)
Ref Sequence ENSEMBL: ENSMUSP00000025718 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025718]
AlphaFold Q9CR42
Predicted Effect probably benign
Transcript: ENSMUST00000025718
AA Change: A38V

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000025718
Gene: ENSMUSG00000024803
AA Change: A38V

DomainStartEndE-ValueType
coiled coil region 53 88 N/A INTRINSIC
low complexity region 94 113 N/A INTRINSIC
Blast:ANK 119 148 1e-10 BLAST
ANK 152 181 4.56e-4 SMART
ANK 185 214 3.28e-5 SMART
ANK 218 247 4.89e-4 SMART
ANK 251 280 6.92e-4 SMART
Blast:ANK 285 313 5e-8 BLAST
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency 97% (76/78)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is localized to the nucleus of endothelial cells and is induced by IL-1 and TNF-alpha stimulation. Studies in rat cardiomyocytes suggest that this gene functions as a transcription factor. Interactions between this protein and the sarcomeric proteins myopalladin and titin suggest that it may also be involved in the myofibrillar stretch-sensor system. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele are viable, fertile, and show no apparent cardiac phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 A T 18: 61,988,288 (GRCm39) I145N probably benign Het
Ankrd34b A G 13: 92,576,268 (GRCm39) E500G probably damaging Het
Arhgef12 T C 9: 42,916,890 (GRCm39) T419A probably damaging Het
B3galt2 A T 1: 143,523,072 (GRCm39) N403Y possibly damaging Het
Bbx C T 16: 50,100,755 (GRCm39) E47K probably benign Het
C4b G A 17: 34,953,193 (GRCm39) probably benign Het
Cacna1e A T 1: 154,324,693 (GRCm39) probably null Het
Cdh3 T C 8: 107,237,857 (GRCm39) V17A probably benign Het
Cog7 A T 7: 121,550,387 (GRCm39) L379Q probably damaging Het
Cul9 T C 17: 46,837,336 (GRCm39) N1044S possibly damaging Het
Cyp4b1 C T 4: 115,493,071 (GRCm39) D258N probably damaging Het
Ddx39a T C 8: 84,447,179 (GRCm39) V113A probably benign Het
Dennd4b A T 3: 90,179,671 (GRCm39) H643L probably damaging Het
Dpy19l3 T C 7: 35,413,640 (GRCm39) T334A probably benign Het
Dsg3 T C 18: 20,669,882 (GRCm39) L632S probably damaging Het
Dtx4 G A 19: 12,463,846 (GRCm39) T312I probably damaging Het
Dusp18 C T 11: 3,847,243 (GRCm39) R78C probably benign Het
Fes A C 7: 80,033,643 (GRCm39) F203V probably benign Het
Fhad1 C A 4: 141,656,957 (GRCm39) probably benign Het
Gjb2 T C 14: 57,337,526 (GRCm39) silent Het
Gm5828 T C 1: 16,838,579 (GRCm39) noncoding transcript Het
Gsdma A C 11: 98,557,080 (GRCm39) E65A probably damaging Het
Hck T A 2: 152,976,140 (GRCm39) probably null Het
Henmt1 A T 3: 108,861,118 (GRCm39) H47L probably damaging Het
Hivep2 T C 10: 14,005,099 (GRCm39) F566L probably damaging Het
Hnrnpl T C 7: 28,513,617 (GRCm39) probably benign Het
Igsf3 T C 3: 101,342,917 (GRCm39) I518T probably damaging Het
Ireb2 T C 9: 54,793,193 (GRCm39) F223L probably benign Het
Isoc2a T C 7: 4,894,331 (GRCm39) probably null Het
Krt73 T A 15: 101,709,208 (GRCm39) R200W probably damaging Het
Lgals9 T A 11: 78,854,361 (GRCm39) I308F probably damaging Het
Lrp1 A G 10: 127,429,811 (GRCm39) F420L probably damaging Het
Mep1b T C 18: 21,228,164 (GRCm39) probably benign Het
Mex3a G T 3: 88,443,562 (GRCm39) A213S probably benign Het
Mmp13 T C 9: 7,276,558 (GRCm39) F218L probably damaging Het
Ncf1 G T 5: 134,255,991 (GRCm39) probably benign Het
Notch2 A G 3: 98,053,433 (GRCm39) D2032G probably damaging Het
Or10h28 T C 17: 33,488,471 (GRCm39) S258P probably damaging Het
Or5p1 A G 7: 107,916,202 (GRCm39) I34V probably benign Het
Or9i1b A C 19: 13,896,614 (GRCm39) I77L probably damaging Het
Pex16 G A 2: 92,210,802 (GRCm39) G312D probably damaging Het
Pex5 A T 6: 124,375,448 (GRCm39) W525R probably damaging Het
Plcb4 T A 2: 135,818,131 (GRCm39) I799N probably damaging Het
Poldip3 G A 15: 83,012,144 (GRCm39) L372F probably damaging Het
Polg2 C A 11: 106,668,352 (GRCm39) V174L probably benign Het
Prrt4 C G 6: 29,170,670 (GRCm39) G594A probably damaging Het
Prss1 A G 6: 41,440,522 (GRCm39) D199G probably damaging Het
Rbms2 T A 10: 127,973,823 (GRCm39) Q207L probably benign Het
Retreg2 A G 1: 75,123,074 (GRCm39) D334G possibly damaging Het
Slc6a15 T G 10: 103,253,929 (GRCm39) C622G probably benign Het
Spdya T A 17: 71,865,635 (GRCm39) D84E probably damaging Het
Stat3 A T 11: 100,785,982 (GRCm39) S432T possibly damaging Het
Tiam1 A T 16: 89,695,088 (GRCm39) V123E probably benign Het
Tnpo3 A G 6: 29,565,651 (GRCm39) probably benign Het
Tnrc6c A C 11: 117,643,811 (GRCm39) N1481H probably damaging Het
Top3b T C 16: 16,701,389 (GRCm39) S234P probably damaging Het
Tor1aip2 A T 1: 155,935,294 (GRCm39) T10S probably benign Het
Tpsab1 T A 17: 25,562,418 (GRCm39) H303L probably benign Het
Traf3 T A 12: 111,228,010 (GRCm39) V407D probably damaging Het
Trim33 T A 3: 103,259,417 (GRCm39) D1035E probably benign Het
Ttc38 T C 15: 85,737,920 (GRCm39) V402A possibly damaging Het
Ube4b C T 4: 149,439,914 (GRCm39) R646H possibly damaging Het
Usp8 C A 2: 126,597,009 (GRCm39) probably benign Het
Zdbf2 A T 1: 63,347,233 (GRCm39) I1871F probably benign Het
Zfp345 T A 2: 150,314,475 (GRCm39) Q354L probably benign Het
Zfp462 C A 4: 55,023,402 (GRCm39) probably benign Het
Zfp81 G A 17: 33,554,095 (GRCm39) H240Y possibly damaging Het
Zfp830 A G 11: 82,655,994 (GRCm39) D266G possibly damaging Het
Other mutations in Ankrd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02210:Ankrd1 APN 19 36,095,714 (GRCm39) missense probably damaging 1.00
IGL02383:Ankrd1 APN 19 36,097,165 (GRCm39) missense probably benign 0.25
IGL02538:Ankrd1 APN 19 36,092,456 (GRCm39) missense probably damaging 1.00
R1302:Ankrd1 UTSW 19 36,092,403 (GRCm39) missense probably damaging 1.00
R1800:Ankrd1 UTSW 19 36,096,759 (GRCm39) missense probably damaging 1.00
R1832:Ankrd1 UTSW 19 36,092,378 (GRCm39) missense possibly damaging 0.94
R1855:Ankrd1 UTSW 19 36,096,635 (GRCm39) missense probably damaging 1.00
R4158:Ankrd1 UTSW 19 36,095,273 (GRCm39) missense probably damaging 1.00
R4160:Ankrd1 UTSW 19 36,095,273 (GRCm39) missense probably damaging 1.00
R4161:Ankrd1 UTSW 19 36,095,273 (GRCm39) missense probably damaging 1.00
R4930:Ankrd1 UTSW 19 36,092,433 (GRCm39) missense probably damaging 0.99
R5929:Ankrd1 UTSW 19 36,095,277 (GRCm39) missense possibly damaging 0.94
R7057:Ankrd1 UTSW 19 36,095,633 (GRCm39) missense possibly damaging 0.78
R7836:Ankrd1 UTSW 19 36,092,922 (GRCm39) missense possibly damaging 0.93
R7846:Ankrd1 UTSW 19 36,094,218 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CATGCGCTTCATATCTGGTGAAAAGAC -3'
(R):5'- ACTTCCTAAGAGAAGGTGGTTGAGTGG -3'

Sequencing Primer
(F):5'- AGAGCAGTTTTTATTTGTTTTCCTCC -3'
(R):5'- ACCTGGGATACCTGGAGCTATG -3'
Posted On 2013-04-16