Incidental Mutation 'IGL02383:Ankrd1'
ID 291435
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 # IGL02383
Quality Score
Status
Chromosome 19
Chromosomal Location 36089365-36097244 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36097165 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 6 (V6A)
Ref Sequence ENSEMBL: ENSMUSP00000025718 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025718]
AlphaFold Q9CR42
Predicted Effect probably benign
Transcript: ENSMUST00000025718
AA Change: V6A

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000025718
Gene: ENSMUSG00000024803
AA Change: V6A

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530400C23Rik T C 6: 133,269,205 (GRCm39) probably benign Het
Adap2 C A 11: 80,051,015 (GRCm39) A115D probably damaging Het
Apobr T A 7: 126,185,779 (GRCm39) V430E probably benign Het
Arhgap28 A G 17: 68,203,084 (GRCm39) V123A probably benign Het
Atp2b2 A G 6: 113,790,903 (GRCm39) V167A probably damaging Het
B3galnt2 A T 13: 14,171,618 (GRCm39) *505C probably null Het
Bcat2 T A 7: 45,237,431 (GRCm39) L305Q probably damaging Het
Coa8 T A 12: 111,690,847 (GRCm39) probably benign Het
Col9a1 T C 1: 24,224,339 (GRCm39) S174P unknown Het
Ddx41 A T 13: 55,680,170 (GRCm39) D418E probably benign Het
Defa40 A G 8: 21,740,377 (GRCm39) D61G probably damaging Het
Exoc6 T C 19: 37,566,922 (GRCm39) F240L probably benign Het
Fbln7 G A 2: 128,737,477 (GRCm39) V431I probably benign Het
Gfral T A 9: 76,104,374 (GRCm39) N213Y probably damaging Het
Golgb1 A G 16: 36,706,562 (GRCm39) D22G probably benign Het
H2-M1 G A 17: 36,981,141 (GRCm39) T298I unknown Het
Haus3 A T 5: 34,323,580 (GRCm39) Y343* probably null Het
Hid1 T C 11: 115,243,446 (GRCm39) E534G probably damaging Het
Il4ra T C 7: 125,170,676 (GRCm39) V196A probably benign Het
Itm2b C A 14: 73,600,536 (GRCm39) E255* probably null Het
Kidins220 A T 12: 25,047,332 (GRCm39) probably benign Het
Klhl22 T A 16: 17,594,762 (GRCm39) F297Y possibly damaging Het
Krt9 T C 11: 100,082,041 (GRCm39) E253G probably damaging Het
Man2a2 G A 7: 80,009,388 (GRCm39) A822V probably damaging Het
Map3k6 T A 4: 132,973,932 (GRCm39) probably null Het
Med29 C A 7: 28,086,448 (GRCm39) R120L possibly damaging Het
Napa C T 7: 15,846,503 (GRCm39) probably benign Het
Ncapd3 T A 9: 26,961,624 (GRCm39) Y351N probably benign Het
Nphs1 C T 7: 30,181,060 (GRCm39) probably benign Het
Or5b94 A G 19: 12,651,899 (GRCm39) D110G probably benign Het
Prss16 T C 13: 22,193,697 (GRCm39) I33V probably benign Het
Ripk1 A G 13: 34,199,227 (GRCm39) Y193C probably damaging Het
Rph3a C T 5: 121,102,002 (GRCm39) R78H probably damaging Het
Rrp9 T A 9: 106,362,471 (GRCm39) I452N probably damaging Het
Ryr2 A T 13: 11,737,607 (GRCm39) probably benign Het
Sec23a A G 12: 59,048,813 (GRCm39) L103P probably damaging Het
Slc17a9 A C 2: 180,377,674 (GRCm39) D190A probably benign Het
Slc44a4 G A 17: 35,146,686 (GRCm39) V422I probably benign Het
Smc5 C T 19: 23,191,996 (GRCm39) probably benign Het
Tax1bp1 C T 6: 52,730,351 (GRCm39) S611F probably benign Het
Tmem38b G A 4: 53,854,345 (GRCm39) M192I probably benign Het
Unc45a G T 7: 79,989,410 (GRCm39) C34* probably null Het
Usp46 T A 5: 74,190,014 (GRCm39) M6L probably benign Het
Uspl1 G A 5: 149,150,212 (GRCm39) V471M probably damaging Het
Vmn1r35 T A 6: 66,655,875 (GRCm39) Q265L probably damaging Het
Vmn1r35 G T 6: 66,655,876 (GRCm39) Q265K probably damaging Het
Vmn1r50 A G 6: 90,084,461 (GRCm39) I69V possibly damaging Het
Vps33b A G 7: 79,935,082 (GRCm39) probably null Het
Xntrpc A C 7: 101,742,802 (GRCm39) D604A probably damaging Het
Yeats4 T A 10: 117,051,716 (GRCm39) R180S probably benign Het
Other mutations in Ankrd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02210:Ankrd1 APN 19 36,095,714 (GRCm39) missense probably damaging 1.00
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