Incidental Mutation 'R4161:Ankrd1'
ID 321546
Institutional Source Beutler Lab
Gene Symbol Ankrd1
Ensembl Gene ENSMUSG00000024803
Gene Name ankyrin repeat domain 1
Synonyms CARP, Alrp, MARP1, Crap
MMRRC Submission 041004-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4161 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 36089365-36097244 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 36095273 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 138 (K138N)
Ref Sequence ENSEMBL: ENSMUSP00000025718 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025718]
AlphaFold Q9CR42
Predicted Effect probably damaging
Transcript: ENSMUST00000025718
AA Change: K138N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025718
Gene: ENSMUSG00000024803
AA Change: K138N

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 0.2300 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 95% (39/41)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr2 A G 9: 121,738,588 (GRCm39) Y321C probably benign Het
Angptl3 T C 4: 98,919,728 (GRCm39) S163P probably damaging Het
Ankle2 T C 5: 110,382,234 (GRCm39) M70T probably benign Het
Ano8 A T 8: 71,935,281 (GRCm39) I339N probably damaging Het
Bltp3a A G 17: 28,103,061 (GRCm39) Y365C probably damaging Het
Cxcl2 A T 5: 91,051,881 (GRCm39) probably null Het
Exosc3 T C 4: 45,320,619 (GRCm39) probably benign Het
Fads2b C A 2: 85,348,853 (GRCm39) K86N probably damaging Het
Fat1 G A 8: 45,489,824 (GRCm39) A3579T probably benign Het
Fat4 G A 3: 38,996,958 (GRCm39) V1726I possibly damaging Het
Grm7 A G 6: 111,230,981 (GRCm39) N468S probably damaging Het
Hmgcll1 A T 9: 75,982,198 (GRCm39) probably benign Het
Igkv3-12 T A 6: 70,495,542 (GRCm39) V23E probably benign Het
Irx6 T C 8: 93,402,919 (GRCm39) C95R possibly damaging Het
Kif16b G A 2: 142,549,324 (GRCm39) H1064Y probably benign Het
Lrrc45 A T 11: 120,609,272 (GRCm39) D377V possibly damaging Het
Oasl1 A G 5: 115,075,073 (GRCm39) K378E possibly damaging Het
Pds5a T C 5: 65,821,839 (GRCm39) T120A possibly damaging Het
Phf8-ps G A 17: 33,285,023 (GRCm39) T593I probably benign Het
Plec T C 15: 76,063,851 (GRCm39) E2141G possibly damaging Het
Pou6f1 A G 15: 100,478,724 (GRCm39) S395P probably damaging Het
Prss12 A T 3: 123,279,176 (GRCm39) K418* probably null Het
Rtn3 G A 19: 7,460,444 (GRCm39) A2V probably benign Het
Rubcnl A G 14: 75,281,898 (GRCm39) T452A possibly damaging Het
Sdk1 A G 5: 142,100,154 (GRCm39) I1395V probably benign Het
Senp7 C A 16: 55,973,832 (GRCm39) P351Q possibly damaging Het
Slco1a7 T C 6: 141,654,322 (GRCm39) K647E probably benign Het
Spred3 A G 7: 28,861,210 (GRCm39) L323P probably damaging Het
Srprb A G 9: 103,078,529 (GRCm39) F67S possibly damaging Het
Tk2 T C 8: 104,965,465 (GRCm39) S101G probably benign Het
Tnxb A G 17: 34,930,491 (GRCm39) T2059A probably damaging Het
Trpm7 A G 2: 126,658,751 (GRCm39) L1135P probably damaging Het
Ush2a G A 1: 188,460,907 (GRCm39) V2723M probably damaging Het
Usp38 C T 8: 81,719,967 (GRCm39) A421T probably damaging Het
Vcan G T 13: 89,833,277 (GRCm39) N3058K probably damaging Het
Vmn1r221 G A 13: 23,402,176 (GRCm39) noncoding transcript Het
Vps11 C G 9: 44,267,017 (GRCm39) G406A probably damaging Het
Wnk2 C T 13: 49,244,313 (GRCm39) D508N probably damaging Het
Zbtb10 T C 3: 9,345,356 (GRCm39) S707P probably 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
R0143:Ankrd1 UTSW 19 36,096,713 (GRCm39) missense probably benign 0.07
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
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'- GCCTCATGCAATCCATCATGC -3'
(R):5'- GACGGCAGCAAAACTCATGG -3'

Sequencing Primer
(F):5'- GAGGGGAACAATAATCTCTCTCTCTC -3'
(R):5'- GCAAAACTCATGGCCACTTTCG -3'
Posted On 2015-06-12