Incidental Mutation 'IGL00484:Ankrd55'
ID 5913
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankrd55
Ensembl Gene ENSMUSG00000049985
Gene Name ankyrin repeat domain 55
Synonyms C030011J08Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00484
Quality Score
Status
Chromosome 13
Chromosomal Location 112424985-112520536 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 112504328 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 330 (K330R)
Ref Sequence ENSEMBL: ENSMUSP00000126199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022275] [ENSMUST00000165593]
AlphaFold Q8BLD6
Predicted Effect probably benign
Transcript: ENSMUST00000022275
AA Change: K358R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000022275
Gene: ENSMUSG00000049985
AA Change: K358R

DomainStartEndE-ValueType
Blast:ANK 25 54 1e-9 BLAST
ANK 59 88 7.64e-6 SMART
ANK 92 121 4.18e2 SMART
ANK 125 156 4.86e1 SMART
ANK 160 189 5.32e-5 SMART
ANK 193 222 7.59e-1 SMART
ANK 229 257 2.97e2 SMART
ANK 263 292 5.71e-5 SMART
ANK 296 326 1.63e0 SMART
low complexity region 528 543 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165593
AA Change: K330R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000126199
Gene: ENSMUSG00000049985
AA Change: K330R

DomainStartEndE-ValueType
Blast:ANK 1 26 8e-8 BLAST
ANK 31 60 7.64e-6 SMART
ANK 64 93 4.18e2 SMART
ANK 97 128 4.86e1 SMART
ANK 132 161 5.32e-5 SMART
ANK 165 194 7.59e-1 SMART
ANK 201 229 2.97e2 SMART
ANK 235 264 5.71e-5 SMART
ANK 268 298 1.63e0 SMART
low complexity region 500 515 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224393
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra1 A G 7: 139,455,860 (GRCm39) Q496R probably benign Het
Ankrd17 A T 5: 90,416,220 (GRCm39) S1151T probably damaging Het
Anln A T 9: 22,272,120 (GRCm39) Y666* probably null Het
Atp1a2 A G 1: 172,103,569 (GRCm39) W984R probably damaging Het
Atp8b3 G T 10: 80,361,998 (GRCm39) probably benign Het
Casc3 A G 11: 98,714,028 (GRCm39) E420G possibly damaging Het
Cep250 G A 2: 155,833,249 (GRCm39) D1724N probably benign Het
Dhx15 T G 5: 52,324,154 (GRCm39) E379D probably benign Het
Dock1 T A 7: 134,748,260 (GRCm39) probably benign Het
Exph5 C T 9: 53,288,006 (GRCm39) Q1696* probably null Het
Fkbp6 C A 5: 135,368,802 (GRCm39) A213S possibly damaging Het
Fndc4 A G 5: 31,450,840 (GRCm39) probably benign Het
Gli3 A T 13: 15,818,977 (GRCm39) T260S possibly damaging Het
Glmp T A 3: 88,233,169 (GRCm39) probably null Het
H2ac22 G T 13: 21,971,091 (GRCm39) R100S probably benign Het
Hapstr1 T C 16: 8,649,175 (GRCm39) probably benign Het
Ighv1-19 G A 12: 114,672,329 (GRCm39) T97I probably benign Het
Kdm6b T C 11: 69,297,132 (GRCm39) S407G possibly damaging Het
Lrp1b T C 2: 41,000,873 (GRCm39) Y2231C probably damaging Het
Lyst T A 13: 13,884,188 (GRCm39) S2999T probably benign Het
Lztr1 T C 16: 17,335,314 (GRCm39) probably benign Het
N4bp2 T C 5: 65,964,867 (GRCm39) V972A probably damaging Het
Ncoa6 A T 2: 155,248,128 (GRCm39) S1725R probably damaging Het
Nfkbiz A G 16: 55,638,272 (GRCm39) V396A probably benign Het
Nup205 A G 6: 35,191,737 (GRCm39) Q1074R probably damaging Het
Pard3 T C 8: 128,098,327 (GRCm39) V456A probably benign Het
Peli1 T A 11: 21,096,952 (GRCm39) V114E probably damaging Het
Phf20l1 T G 15: 66,487,482 (GRCm39) probably benign Het
Pik3r1 A C 13: 101,838,255 (GRCm39) I267S probably benign Het
Polh C T 17: 46,483,169 (GRCm39) probably benign Het
Ppl A G 16: 4,905,816 (GRCm39) I1493T probably benign Het
Pramel19 T C 4: 101,798,898 (GRCm39) F290L probably benign Het
Pramel28 G A 4: 143,693,184 (GRCm39) probably benign Het
Prg3 A G 2: 84,819,091 (GRCm39) I6V probably benign Het
Ptprg T C 14: 12,215,220 (GRCm38) V1069A probably damaging Het
Rasal2 A T 1: 157,001,745 (GRCm39) probably null Het
Slc36a2 A T 11: 55,053,614 (GRCm39) Y341* probably null Het
Snapc3 A G 4: 83,354,633 (GRCm39) I215V probably damaging Het
Srrm2 T A 17: 24,037,492 (GRCm39) S1475T probably benign Het
Sycp2 A T 2: 178,024,141 (GRCm39) D414E probably damaging Het
Tanc1 A G 2: 59,623,520 (GRCm39) T468A probably benign Het
Tfap2d A G 1: 19,213,105 (GRCm39) T310A probably benign Het
Tgfbr2 T A 9: 115,987,357 (GRCm39) I51F probably benign Het
Trip11 A T 12: 101,851,570 (GRCm39) C546* probably null Het
Ttbk2 C T 2: 120,604,367 (GRCm39) W210* probably null Het
Upk1b T G 16: 38,600,378 (GRCm39) N201H possibly damaging Het
Uqcc5 T A 14: 30,810,879 (GRCm39) probably benign Het
Ush2a A T 1: 188,514,710 (GRCm39) T3180S probably benign Het
Vps13d T G 4: 144,853,145 (GRCm39) Q2323P probably benign Het
Zfp810 A T 9: 22,189,605 (GRCm39) Y434* probably null Het
Other mutations in Ankrd55
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01372:Ankrd55 APN 13 112,459,677 (GRCm39) missense probably damaging 1.00
IGL01554:Ankrd55 APN 13 112,459,601 (GRCm39) missense possibly damaging 0.87
IGL01700:Ankrd55 APN 13 112,517,702 (GRCm39) missense probably benign 0.16
IGL02366:Ankrd55 APN 13 112,454,994 (GRCm39) missense probably damaging 1.00
IGL03368:Ankrd55 APN 13 112,455,090 (GRCm39) splice site probably benign
crescat UTSW 13 112,485,397 (GRCm39) critical splice donor site probably null
Scientiam UTSW 13 112,492,497 (GRCm39) missense probably damaging 0.99
I0000:Ankrd55 UTSW 13 112,485,259 (GRCm39) splice site probably benign
R0547:Ankrd55 UTSW 13 112,504,757 (GRCm39) missense probably benign 0.03
R0781:Ankrd55 UTSW 13 112,517,767 (GRCm39) splice site probably benign
R0981:Ankrd55 UTSW 13 112,459,610 (GRCm39) missense possibly damaging 0.78
R1072:Ankrd55 UTSW 13 112,485,376 (GRCm39) missense possibly damaging 0.83
R1469:Ankrd55 UTSW 13 112,504,460 (GRCm39) missense probably benign 0.39
R1469:Ankrd55 UTSW 13 112,504,460 (GRCm39) missense probably benign 0.39
R2187:Ankrd55 UTSW 13 112,520,039 (GRCm39) missense probably benign 0.01
R4430:Ankrd55 UTSW 13 112,459,717 (GRCm39) critical splice donor site probably null
R4753:Ankrd55 UTSW 13 112,500,009 (GRCm39) missense probably benign
R4846:Ankrd55 UTSW 13 112,499,988 (GRCm39) missense probably benign 0.00
R4911:Ankrd55 UTSW 13 112,459,573 (GRCm39) splice site probably null
R4996:Ankrd55 UTSW 13 112,492,622 (GRCm39) missense possibly damaging 0.68
R5007:Ankrd55 UTSW 13 112,504,466 (GRCm39) missense probably benign
R5077:Ankrd55 UTSW 13 112,492,522 (GRCm39) missense probably benign 0.19
R5118:Ankrd55 UTSW 13 112,492,473 (GRCm39) missense probably benign 0.00
R5350:Ankrd55 UTSW 13 112,472,760 (GRCm39) missense probably damaging 1.00
R5367:Ankrd55 UTSW 13 112,455,036 (GRCm39) missense probably damaging 1.00
R5560:Ankrd55 UTSW 13 112,520,024 (GRCm39) missense probably benign
R5888:Ankrd55 UTSW 13 112,492,453 (GRCm39) missense possibly damaging 0.62
R6130:Ankrd55 UTSW 13 112,454,980 (GRCm39) missense probably damaging 1.00
R6589:Ankrd55 UTSW 13 112,485,397 (GRCm39) critical splice donor site probably null
R6994:Ankrd55 UTSW 13 112,504,834 (GRCm39) missense probably benign 0.42
R7100:Ankrd55 UTSW 13 112,492,644 (GRCm39) missense probably benign 0.00
R7247:Ankrd55 UTSW 13 112,472,787 (GRCm39) missense probably damaging 0.97
R7340:Ankrd55 UTSW 13 112,492,497 (GRCm39) missense probably damaging 0.99
R7694:Ankrd55 UTSW 13 112,504,498 (GRCm39) missense probably damaging 1.00
R8053:Ankrd55 UTSW 13 112,459,687 (GRCm39) missense probably damaging 1.00
R8282:Ankrd55 UTSW 13 112,459,575 (GRCm39) splice site probably benign
R8529:Ankrd55 UTSW 13 112,480,670 (GRCm39) missense probably benign 0.05
R9059:Ankrd55 UTSW 13 112,455,073 (GRCm39) missense probably damaging 1.00
R9176:Ankrd55 UTSW 13 112,459,610 (GRCm39) missense possibly damaging 0.78
R9189:Ankrd55 UTSW 13 112,504,570 (GRCm39) missense probably damaging 1.00
R9332:Ankrd55 UTSW 13 112,459,677 (GRCm39) missense probably damaging 1.00
R9557:Ankrd55 UTSW 13 112,485,347 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20