Incidental Mutation 'IGL02210:Ankrd1'
ID 284667
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankrd1
Ensembl Gene ENSMUSG00000024803
Gene Name ankyrin repeat domain 1
Synonyms CARP, Alrp, MARP1, Crap
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02210
Quality Score
Status
Chromosome 19
Chromosomal Location 36089365-36097244 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36095714 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 86 (D86G)
Ref Sequence ENSEMBL: ENSMUSP00000025718 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025718]
AlphaFold Q9CR42
Predicted Effect probably damaging
Transcript: ENSMUST00000025718
AA Change: D86G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025718
Gene: ENSMUSG00000024803
AA Change: D86G

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
Coding Region Coverage
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,633,097 (GRCm39) F215S probably damaging Het
Acvr2a A T 2: 48,788,538 (GRCm39) H422L probably damaging Het
Adcy6 T C 15: 98,492,852 (GRCm39) Y908C possibly damaging Het
Alyref A C 11: 120,488,499 (GRCm39) S110A possibly damaging Het
Anpep T A 7: 79,476,652 (GRCm39) Y29F probably benign Het
Appl1 T C 14: 26,647,909 (GRCm39) probably benign Het
Arrdc5 T C 17: 56,607,026 (GRCm39) D73G probably damaging Het
Atp12a T A 14: 56,609,201 (GRCm39) Y142* probably null Het
Clec4a3 T A 6: 122,931,067 (GRCm39) I52N probably damaging Het
Cmya5 G A 13: 93,229,242 (GRCm39) P1949S probably benign Het
Crybb2 T A 5: 113,206,253 (GRCm39) Q194L probably damaging Het
Dmxl2 A C 9: 54,311,333 (GRCm39) L1796R probably damaging Het
Ecm1 A G 3: 95,643,289 (GRCm39) F337S probably damaging Het
F5 T C 1: 164,017,710 (GRCm39) S596P probably benign Het
Fat4 A G 3: 38,946,002 (GRCm39) T1632A probably benign Het
Gm5070 T G 3: 95,317,936 (GRCm39) noncoding transcript Het
Hps5 T C 7: 46,435,994 (GRCm39) Y184C probably benign Het
Letmd1 T C 15: 100,367,128 (GRCm39) probably null Het
Lipo5 A T 19: 33,445,277 (GRCm39) N97K unknown Het
Mis18bp1 A T 12: 65,183,605 (GRCm39) Y922* probably null Het
Mob3c C A 4: 115,690,952 (GRCm39) H181N probably damaging Het
Muc4 A T 16: 32,574,054 (GRCm39) T711S probably benign Het
Nav3 T C 10: 109,602,851 (GRCm39) T1233A probably benign Het
Nherf4 T G 9: 44,159,614 (GRCm39) T461P probably benign Het
Or12e8 T A 2: 87,188,347 (GRCm39) D186E probably damaging Het
Or12k8 G T 2: 36,975,631 (GRCm39) T43N possibly damaging Het
Pcnt T C 10: 76,225,053 (GRCm39) E1817G possibly damaging Het
Pgap4 A G 4: 49,586,686 (GRCm39) Y161H probably benign Het
Phc3 A G 3: 30,990,858 (GRCm39) V420A probably damaging Het
Plekhn1 A T 4: 156,308,106 (GRCm39) C316S probably damaging Het
Ppp1cb T A 5: 32,640,818 (GRCm39) probably benign Het
Slc29a4 T C 5: 142,704,534 (GRCm39) Y359H probably damaging Het
Sspo T C 6: 48,477,426 (GRCm39) I4982T probably damaging Het
Sstr4 T A 2: 148,238,229 (GRCm39) L280Q probably damaging Het
Stap1 G A 5: 86,225,920 (GRCm39) probably null Het
Szt2 A G 4: 118,247,020 (GRCm39) V865A possibly damaging Het
Tnr T A 1: 159,679,671 (GRCm39) V215D probably benign Het
Trpm1 T C 7: 63,860,613 (GRCm39) L288P probably damaging Het
Ttll5 T A 12: 85,959,319 (GRCm39) probably benign Het
Usp8 T C 2: 126,559,976 (GRCm39) probably benign Het
Uxs1 T C 1: 43,789,446 (GRCm39) Y403C possibly damaging Het
Wnk2 T C 13: 49,244,345 (GRCm39) E497G probably damaging Het
Xdh T C 17: 74,250,890 (GRCm39) K21E probably benign Het
Other mutations in Ankrd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-04-16