Incidental Mutation 'IGL02111:Ankrd45'
ID280161
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankrd45
Ensembl Gene ENSMUSG00000044835
Gene Nameankyrin repeat domain 45
Synonyms4933409K03Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02111
Quality Score
Status
Chromosome1
Chromosomal Location161142691-161170498 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 161163351 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 259 (K259E)
Ref Sequence ENSEMBL: ENSMUSP00000059923 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052245] [ENSMUST00000111608] [ENSMUST00000125018] [ENSMUST00000135643] [ENSMUST00000150721] [ENSMUST00000178511] [ENSMUST00000192384]
Predicted Effect probably damaging
Transcript: ENSMUST00000052245
AA Change: K259E

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000059923
Gene: ENSMUSG00000044835
AA Change: K259E

DomainStartEndE-ValueType
low complexity region 27 65 N/A INTRINSIC
ANK 109 138 1.57e-2 SMART
ANK 142 171 2.45e-4 SMART
Blast:ANK 175 201 1e-5 BLAST
low complexity region 202 216 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000111608
AA Change: K225E

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107235
Gene: ENSMUSG00000044835
AA Change: K225E

DomainStartEndE-ValueType
low complexity region 2 31 N/A INTRINSIC
ANK 75 104 1.57e-2 SMART
ANK 108 137 2.45e-4 SMART
Blast:ANK 141 167 1e-5 BLAST
low complexity region 168 182 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125018
SMART Domains Protein: ENSMUSP00000117977
Gene: ENSMUSG00000044835

DomainStartEndE-ValueType
low complexity region 2 31 N/A INTRINSIC
ANK 75 104 1.57e-2 SMART
ANK 108 137 2.45e-4 SMART
Blast:ANK 141 167 9e-6 BLAST
low complexity region 168 182 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000135643
Predicted Effect probably benign
Transcript: ENSMUST00000150721
Predicted Effect probably benign
Transcript: ENSMUST00000178511
Predicted Effect probably benign
Transcript: ENSMUST00000192384
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530077C05Rik T C 9: 22,424,179 I31T probably benign Het
Adgrg3 G A 8: 95,034,999 R130Q probably damaging Het
Adipor2 A T 6: 119,370,196 L42* probably null Het
Apoc3 T C 9: 46,234,474 K79R possibly damaging Het
Arhgap40 T C 2: 158,539,844 Y416H probably damaging Het
Armc5 A G 7: 128,244,083 T683A probably benign Het
Bora T C 14: 99,047,377 V21A probably damaging Het
Cacna1b C T 2: 24,606,991 S2189N probably damaging Het
Cct2 G A 10: 117,053,112 T57I probably damaging Het
Cd200r1 A T 16: 44,788,781 N34Y probably damaging Het
Cd300ld2 T A 11: 115,012,393 probably benign Het
Cntnap5a G A 1: 116,089,352 R225H probably benign Het
Cntnap5c A T 17: 58,102,108 D447V probably damaging Het
Cpne7 T C 8: 123,125,653 probably benign Het
Dap3 G A 3: 88,929,418 T92I probably benign Het
Dnmbp A G 19: 43,867,555 L254P probably damaging Het
Egfem1 G A 3: 29,650,896 probably null Het
Fam120b T C 17: 15,402,585 L275P possibly damaging Het
Fam161a A T 11: 23,020,026 H68L probably benign Het
Fam193a A G 5: 34,410,657 E100G possibly damaging Het
Ftmt A T 18: 52,332,053 D147V possibly damaging Het
Gm10136 T C 19: 29,003,722 K41E probably benign Het
Gm10797 C T 10: 67,572,567 noncoding transcript Het
Hsf1 A G 15: 76,496,081 probably benign Het
Ipo8 A G 6: 148,799,780 V514A probably damaging Het
Itfg2 T C 6: 128,410,381 H422R probably benign Het
Lrp4 G T 2: 91,506,059 L1738F probably damaging Het
Mettl17 A G 14: 51,891,386 E371G probably damaging Het
Mfsd6 A T 1: 52,708,344 L454Q probably damaging Het
Myh10 A T 11: 68,790,112 E956V probably damaging Het
Ncoa1 A T 12: 4,274,944 M1K probably null Het
Olfr1163 T A 2: 88,071,227 N52Y probably benign Het
Olfr677 A G 7: 105,056,945 D233G probably benign Het
Olfr709-ps1 A C 7: 106,926,616 V281G probably damaging Het
Otop1 T A 5: 38,277,701 C89S probably benign Het
Pitrm1 G T 13: 6,573,145 R775L probably benign Het
Prpf19 A G 19: 10,905,094 T512A probably benign Het
Prpf4b T A 13: 34,883,961 S258T probably benign Het
Rhbdl2 T C 4: 123,822,837 Y196H probably damaging Het
Rnf187 T C 11: 58,937,180 D148G probably damaging Het
Sbds A G 5: 130,250,941 I74T probably damaging Het
Sec63 T C 10: 42,810,888 V468A probably damaging Het
Slc35b3 A T 13: 38,955,782 M23K probably damaging Het
Slc6a9 A T 4: 117,864,013 Y208F probably benign Het
Slfn8 A T 11: 83,004,498 L494Q probably damaging Het
Sorcs1 T G 19: 50,230,245 M600L probably benign Het
Supt7l T C 5: 31,515,678 probably null Het
Tecrl T A 5: 83,354,792 Q70L probably damaging Het
Tedc2 A T 17: 24,218,166 probably benign Het
Tespa1 A G 10: 130,355,484 D99G probably damaging Het
Tmem126b G T 7: 90,469,061 Q204K probably damaging Het
Tmem181c-ps A T 17: 6,620,367 noncoding transcript Het
Tmem184a G T 5: 139,813,101 T31K possibly damaging Het
Tmprss11e T A 5: 86,719,801 I137F possibly damaging Het
Tmprss13 C T 9: 45,336,105 T255I probably damaging Het
Top1mt G A 15: 75,665,706 probably benign Het
Treh C T 9: 44,682,961 T168I probably benign Het
Ttn A T 2: 76,767,328 I11420N probably benign Het
Zp2 T C 7: 120,132,418 K705E possibly damaging Het
Zw10 T C 9: 49,068,754 I395T probably damaging Het
Other mutations in Ankrd45
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03190:Ankrd45 APN 1 161163339 missense probably benign 0.01
R0891:Ankrd45 UTSW 1 161155336 missense possibly damaging 0.90
R1933:Ankrd45 UTSW 1 161151300 missense probably damaging 1.00
R4739:Ankrd45 UTSW 1 161155390 missense probably damaging 1.00
R4884:Ankrd45 UTSW 1 161160700 missense possibly damaging 0.91
R4888:Ankrd45 UTSW 1 161155372 missense probably damaging 1.00
R4989:Ankrd45 UTSW 1 161155306 missense probably damaging 1.00
R5436:Ankrd45 UTSW 1 161159112 intron probably benign
R7081:Ankrd45 UTSW 1 161151293 missense probably benign 0.00
Posted On2015-04-16