Incidental Mutation 'R0393:Ankrd10'
ID 261838
Institutional Source Beutler Lab
Gene Symbol Ankrd10
Ensembl Gene ENSMUSG00000031508
Gene Name ankyrin repeat domain 10
Synonyms 4833425P12Rik
MMRRC Submission 038599-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R0393 (G1)
Quality Score 130
Status Not validated
Chromosome 8
Chromosomal Location 11661583-11685757 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 11685482 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 46 (R46S)
Ref Sequence ENSEMBL: ENSMUSP00000131657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033905] [ENSMUST00000169782] [ENSMUST00000209915] [ENSMUST00000210530] [ENSMUST00000210876] [ENSMUST00000211174]
AlphaFold Q99LW0
Predicted Effect probably benign
Transcript: ENSMUST00000033905
AA Change: R46S

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000033905
Gene: ENSMUSG00000031508
AA Change: R46S

DomainStartEndE-ValueType
Blast:ANK 20 49 2e-10 BLAST
ANK 56 85 2.66e-5 SMART
ANK 90 119 6.46e-4 SMART
ANK 123 152 1.03e-2 SMART
Blast:ANK 156 185 6e-6 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000169782
AA Change: R46S

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000131657
Gene: ENSMUSG00000031508
AA Change: R46S

DomainStartEndE-ValueType
Blast:ANK 20 49 1e-10 BLAST
ANK 56 85 2.66e-5 SMART
ANK 90 119 6.46e-4 SMART
ANK 123 152 1.03e-2 SMART
Blast:ANK 156 185 4e-6 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198377
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209605
Predicted Effect probably benign
Transcript: ENSMUST00000209915
Predicted Effect probably benign
Transcript: ENSMUST00000210530
AA Change: R46S

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000210876
Predicted Effect probably benign
Transcript: ENSMUST00000211174
AA Change: R46S

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211445
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211389
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.9%
Validation Efficiency 100% (59/59)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 C T 6: 142,591,604 (GRCm39) probably benign Het
Akr1b7 T G 6: 34,392,335 (GRCm39) Y49* probably null Het
Atp13a5 A G 16: 29,085,681 (GRCm39) probably benign Het
Baz1a A G 12: 54,965,221 (GRCm39) probably null Het
Bicd2 C T 13: 49,533,346 (GRCm39) T644M probably damaging Het
Ccr9 A T 9: 123,609,035 (GRCm39) H239L probably benign Het
Cd180 A T 13: 102,842,408 (GRCm39) N485Y probably damaging Het
Ces1d T A 8: 93,919,400 (GRCm39) S131C probably damaging Het
Cnpy2 T A 10: 128,162,076 (GRCm39) S116R probably benign Het
Crym T C 7: 119,788,972 (GRCm39) K285R probably benign Het
Cyp2a4 A T 7: 26,012,293 (GRCm39) I359F possibly damaging Het
Cyp2b10 T A 7: 25,614,359 (GRCm39) probably benign Het
Dcpp3 A T 17: 24,136,925 (GRCm39) probably benign Het
Dnah8 T A 17: 30,927,364 (GRCm39) I1340K probably benign Het
Fbln1 T C 15: 85,111,277 (GRCm39) C144R probably damaging Het
Gm1553 T C 10: 82,328,010 (GRCm39) R66G unknown Het
Il10rb G A 16: 91,208,898 (GRCm39) V103I probably benign Het
Irak1bp1 T A 9: 82,728,614 (GRCm39) W182R probably benign Het
Kcna3 T C 3: 106,944,315 (GRCm39) S193P probably damaging Het
Kif14 C T 1: 136,410,156 (GRCm39) H628Y probably damaging Het
Krt31 A G 11: 99,941,079 (GRCm39) L77P probably damaging Het
Krt36 C T 11: 99,994,940 (GRCm39) A211T possibly damaging Het
L3mbtl2 C T 15: 81,552,942 (GRCm39) A125V probably damaging Het
Lmo7 A G 14: 102,137,892 (GRCm39) T743A probably benign Het
Lyst C T 13: 13,821,664 (GRCm39) T1346M probably benign Het
Mapkbp1 T A 2: 119,843,384 (GRCm39) probably null Het
Mif T C 10: 75,695,638 (GRCm39) D55G probably benign Het
Mlh3 G T 12: 85,314,361 (GRCm39) C608* probably null Het
Mlip A T 9: 77,146,859 (GRCm39) C85S probably benign Het
Mug1 T C 6: 121,826,809 (GRCm39) S211P possibly damaging Het
Mybl2 T A 2: 162,903,528 (GRCm39) probably benign Het
Myh8 C T 11: 67,196,843 (GRCm39) probably benign Het
Nanos1 A G 19: 60,745,368 (GRCm39) Y222C probably damaging Het
Or10ag52 A T 2: 87,044,037 (GRCm39) Y267F probably benign Het
Or2n1e G T 17: 38,585,774 (GRCm39) M37I probably benign Het
Or5d16 T C 2: 87,773,909 (GRCm39) D21G possibly damaging Het
Papolb A G 5: 142,515,211 (GRCm39) V144A probably damaging Het
Pctp A G 11: 89,876,945 (GRCm39) S185P probably benign Het
Plod1 A T 4: 148,003,298 (GRCm39) L509Q probably null Het
Ppp1r13b C A 12: 111,802,122 (GRCm39) M290I probably benign Het
Ralb G C 1: 119,405,856 (GRCm39) probably null Het
Rxylt1 T C 10: 121,931,841 (GRCm39) probably benign Het
Slc4a8 T A 15: 100,672,519 (GRCm39) D18E probably damaging Het
Speg A C 1: 75,400,568 (GRCm39) H2576P possibly damaging Het
Spock1 T C 13: 57,588,349 (GRCm39) D241G probably damaging Het
Tcam1 T A 11: 106,175,040 (GRCm39) V165E probably benign Het
Thbs1 T A 2: 117,943,472 (GRCm39) V30E possibly damaging Het
Tll2 A G 19: 41,077,265 (GRCm39) Y834H possibly damaging Het
Trpm6 G A 19: 18,756,008 (GRCm39) D84N probably damaging Het
Ubr1 T A 2: 120,737,427 (GRCm39) Q1039L probably damaging Het
Ubr4 A G 4: 139,138,171 (GRCm39) probably benign Het
Vmn1r74 T C 7: 11,581,242 (GRCm39) Y181H possibly damaging Het
Vmn2r13 T C 5: 109,304,395 (GRCm39) T679A probably benign Het
Vmn2r91 A T 17: 18,325,712 (GRCm39) Y110F probably damaging Het
Zbtb40 A C 4: 136,745,842 (GRCm39) S64A probably benign Het
Zfp184 T A 13: 22,131,252 (GRCm39) probably benign Het
Other mutations in Ankrd10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01480:Ankrd10 APN 8 11,685,592 (GRCm39) missense probably benign
IGL03029:Ankrd10 APN 8 11,669,304 (GRCm39) splice site probably null
R0098:Ankrd10 UTSW 8 11,662,560 (GRCm39) missense probably benign 0.01
R2870:Ankrd10 UTSW 8 11,665,682 (GRCm39) missense probably damaging 0.98
R2870:Ankrd10 UTSW 8 11,665,682 (GRCm39) missense probably damaging 0.98
R4176:Ankrd10 UTSW 8 11,662,644 (GRCm39) missense probably benign 0.00
R5985:Ankrd10 UTSW 8 11,669,077 (GRCm39) nonsense probably null
R6999:Ankrd10 UTSW 8 11,669,106 (GRCm39) missense probably damaging 1.00
R7108:Ankrd10 UTSW 8 11,662,624 (GRCm39) missense probably damaging 1.00
R7322:Ankrd10 UTSW 8 11,665,841 (GRCm39) missense probably damaging 0.97
R7522:Ankrd10 UTSW 8 11,682,910 (GRCm39) missense probably damaging 1.00
R7559:Ankrd10 UTSW 8 11,662,548 (GRCm39) missense probably damaging 0.97
R7629:Ankrd10 UTSW 8 11,665,769 (GRCm39) missense probably benign 0.13
R8263:Ankrd10 UTSW 8 11,665,707 (GRCm39) missense probably benign 0.22
R8493:Ankrd10 UTSW 8 11,678,518 (GRCm39) nonsense probably null
R8713:Ankrd10 UTSW 8 11,678,491 (GRCm39) missense probably damaging 1.00
R8897:Ankrd10 UTSW 8 11,665,788 (GRCm39) missense possibly damaging 0.61
Predicted Primers
Posted On 2015-02-04