Incidental Mutation 'R4846:Ankrd55'
ID 372188
Institutional Source Beutler Lab
Gene Symbol Ankrd55
Ensembl Gene ENSMUSG00000049985
Gene Name ankyrin repeat domain 55
Synonyms C030011J08Rik
MMRRC Submission 042459-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4846 (G1)
Quality Score 181
Status Validated
Chromosome 13
Chromosomal Location 112288451-112384002 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 112363454 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 278 (E278D)
Ref Sequence ENSEMBL: ENSMUSP00000022275 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022275] [ENSMUST00000165593]
AlphaFold Q8BLD6
Predicted Effect probably benign
Transcript: ENSMUST00000022275
AA Change: E278D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000022275
Gene: ENSMUSG00000049985
AA Change: E278D

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: E250D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126199
Gene: ENSMUSG00000049985
AA Change: E250D

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
Meta Mutation Damage Score 0.0893 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency 100% (60/60)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik T A 14: 70,155,943 (GRCm38) H299L probably damaging Het
Abcb4 C T 5: 8,935,180 (GRCm38) A687V probably benign Het
Abtb3 A G 10: 85,629,266 (GRCm38) T657A probably damaging Het
Adam20 A G 8: 40,795,011 (GRCm38) T53A probably benign Het
Afg1l G A 10: 42,454,494 (GRCm38) T59I probably benign Het
AI837181 A G 19: 5,426,301 (GRCm38) Q164R probably benign Het
Anapc15 T A 7: 101,897,767 (GRCm38) I12N probably benign Het
Axin2 A G 11: 108,942,299 (GRCm38) T437A probably benign Het
BC051665 T C 13: 60,784,081 (GRCm38) D168G probably damaging Het
Cd200 C T 16: 45,392,301 (GRCm38) R261H probably benign Het
Clk1 G A 1: 58,421,102 (GRCm38) S123L probably benign Het
Csrnp2 A T 15: 100,484,690 (GRCm38) D156E probably damaging Het
Ctss C T 3: 95,545,384 (GRCm38) Q159* probably null Het
Dip2a A G 10: 76,321,493 (GRCm38) S93P probably damaging Het
Dnase1l1 C T X: 74,277,038 (GRCm38) probably null Het
Dync1h1 C A 12: 110,658,126 (GRCm38) T3700N probably damaging Het
Ephb6 G A 6: 41,616,809 (GRCm38) R542Q probably benign Het
Fmo3 T C 1: 162,954,311 (GRCm38) D491G possibly damaging Het
Galnt14 A T 17: 73,536,893 (GRCm38) M140K probably benign Het
Ghsr T C 3: 27,371,837 (GRCm38) V14A probably benign Het
Gm17546 C A 15: 95,829,962 (GRCm38) probably benign Het
Gprc5c G T 11: 114,864,267 (GRCm38) V257L possibly damaging Het
Hc A G 2: 35,019,670 (GRCm38) V866A probably benign Het
Hoxb6 G A 11: 96,299,522 (GRCm38) G116R probably damaging Het
Hykk A G 9: 54,920,606 (GRCm38) Y43C probably damaging Het
Jade2 T C 11: 51,821,148 (GRCm38) T495A probably benign Het
Kansl1 A T 11: 104,342,972 (GRCm38) V755E possibly damaging Het
Lrp2 T A 2: 69,479,113 (GRCm38) D2814V probably damaging Het
Mbd5 T A 2: 49,256,997 (GRCm38) N406K probably damaging Het
Met A T 6: 17,491,929 (GRCm38) D230V probably damaging Het
Mrgprx2 A T 7: 48,482,836 (GRCm38) V78D probably damaging Het
Mrpl20 A G 4: 155,808,536 (GRCm38) T112A possibly damaging Het
Nek11 T A 9: 105,163,163 (GRCm38) E566D probably damaging Het
Nostrin T C 2: 69,175,579 (GRCm38) S235P probably damaging Het
Npas4 C A 19: 4,986,777 (GRCm38) S453I probably benign Het
Pnkp C T 7: 44,862,403 (GRCm38) S113L probably damaging Het
Psg18 A T 7: 18,350,786 (GRCm38) Y128* probably null Het
Ptges3l A T 11: 101,419,184 (GRCm38) probably benign Het
Pus1 T C 5: 110,779,930 (GRCm38) probably benign Het
Raf1 T A 6: 115,644,583 (GRCm38) S12C possibly damaging Het
Rps6-ps2 T G 8: 88,806,578 (GRCm38) noncoding transcript Het
Slc5a4b A G 10: 76,062,239 (GRCm38) L547P probably damaging Het
Socs3 A G 11: 117,967,828 (GRCm38) S135P probably benign Het
Spata31d1e T C 13: 59,742,233 (GRCm38) D591G probably benign Het
St5 C A 7: 109,556,836 (GRCm38) E236* probably null Het
Stra6l G A 4: 45,873,682 (GRCm38) V281M possibly damaging Het
Suco G A 1: 161,834,408 (GRCm38) T818I possibly damaging Het
Syde1 A T 10: 78,588,897 (GRCm38) V367D probably damaging Het
Tet3 A T 6: 83,376,883 (GRCm38) L932* probably null Het
Trpm7 G A 2: 126,813,185 (GRCm38) L1278F possibly damaging Het
Vmn1r168 A T 7: 23,541,065 (GRCm38) T116S probably damaging Het
Wfdc6b A G 2: 164,617,294 (GRCm38) Q92R possibly damaging Het
Other mutations in Ankrd55
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:Ankrd55 APN 13 112,367,794 (GRCm38) missense probably benign 0.01
IGL01372:Ankrd55 APN 13 112,323,143 (GRCm38) missense probably damaging 1.00
IGL01554:Ankrd55 APN 13 112,323,067 (GRCm38) missense possibly damaging 0.87
IGL01700:Ankrd55 APN 13 112,381,168 (GRCm38) missense probably benign 0.16
IGL02366:Ankrd55 APN 13 112,318,460 (GRCm38) missense probably damaging 1.00
IGL03368:Ankrd55 APN 13 112,318,556 (GRCm38) splice site probably benign
crescat UTSW 13 112,348,863 (GRCm38) critical splice donor site probably null
Scientiam UTSW 13 112,355,963 (GRCm38) missense probably damaging 0.99
I0000:Ankrd55 UTSW 13 112,348,725 (GRCm38) splice site probably benign
R0547:Ankrd55 UTSW 13 112,368,223 (GRCm38) missense probably benign 0.03
R0781:Ankrd55 UTSW 13 112,381,233 (GRCm38) splice site probably benign
R0981:Ankrd55 UTSW 13 112,323,076 (GRCm38) missense possibly damaging 0.78
R1072:Ankrd55 UTSW 13 112,348,842 (GRCm38) missense possibly damaging 0.83
R1469:Ankrd55 UTSW 13 112,367,926 (GRCm38) missense probably benign 0.39
R1469:Ankrd55 UTSW 13 112,367,926 (GRCm38) missense probably benign 0.39
R2187:Ankrd55 UTSW 13 112,383,505 (GRCm38) missense probably benign 0.01
R4430:Ankrd55 UTSW 13 112,323,183 (GRCm38) critical splice donor site probably null
R4753:Ankrd55 UTSW 13 112,363,475 (GRCm38) missense probably benign
R4911:Ankrd55 UTSW 13 112,323,039 (GRCm38) splice site probably null
R4996:Ankrd55 UTSW 13 112,356,088 (GRCm38) missense possibly damaging 0.68
R5007:Ankrd55 UTSW 13 112,367,932 (GRCm38) missense probably benign
R5077:Ankrd55 UTSW 13 112,355,988 (GRCm38) missense probably benign 0.19
R5118:Ankrd55 UTSW 13 112,355,939 (GRCm38) missense probably benign 0.00
R5350:Ankrd55 UTSW 13 112,336,226 (GRCm38) missense probably damaging 1.00
R5367:Ankrd55 UTSW 13 112,318,502 (GRCm38) missense probably damaging 1.00
R5560:Ankrd55 UTSW 13 112,383,490 (GRCm38) missense probably benign
R5888:Ankrd55 UTSW 13 112,355,919 (GRCm38) missense possibly damaging 0.62
R6130:Ankrd55 UTSW 13 112,318,446 (GRCm38) missense probably damaging 1.00
R6589:Ankrd55 UTSW 13 112,348,863 (GRCm38) critical splice donor site probably null
R6994:Ankrd55 UTSW 13 112,368,300 (GRCm38) missense probably benign 0.42
R7100:Ankrd55 UTSW 13 112,356,110 (GRCm38) missense probably benign 0.00
R7247:Ankrd55 UTSW 13 112,336,253 (GRCm38) missense probably damaging 0.97
R7340:Ankrd55 UTSW 13 112,355,963 (GRCm38) missense probably damaging 0.99
R7694:Ankrd55 UTSW 13 112,367,964 (GRCm38) missense probably damaging 1.00
R8053:Ankrd55 UTSW 13 112,323,153 (GRCm38) missense probably damaging 1.00
R8282:Ankrd55 UTSW 13 112,323,041 (GRCm38) splice site probably benign
R8529:Ankrd55 UTSW 13 112,344,136 (GRCm38) missense probably benign 0.05
R9059:Ankrd55 UTSW 13 112,318,539 (GRCm38) missense probably damaging 1.00
R9176:Ankrd55 UTSW 13 112,323,076 (GRCm38) missense possibly damaging 0.78
R9189:Ankrd55 UTSW 13 112,368,036 (GRCm38) missense probably damaging 1.00
R9332:Ankrd55 UTSW 13 112,323,143 (GRCm38) missense probably damaging 1.00
R9557:Ankrd55 UTSW 13 112,348,813 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGCTGGGTCCATGTGCC -3'
(R):5'- GTATGCTAGATGACAGCAAGTGTAC -3'

Sequencing Primer
(F):5'- CCTGTTTCACACTGTGGATCTAAGG -3'
(R):5'- GCTTTGGAACTCACACTGAAAG -3'
Posted On 2016-03-01