Incidental Mutation 'R8713:Ankrd10'
ID 669711
Institutional Source Beutler Lab
Gene Symbol Ankrd10
Ensembl Gene ENSMUSG00000031508
Gene Name ankyrin repeat domain 10
Synonyms 4833425P12Rik
MMRRC Submission 068567-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R8713 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 11661583-11685757 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11678491 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 134 (S134P)
Ref Sequence ENSEMBL: ENSMUSP00000033905 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033905] [ENSMUST00000169782] [ENSMUST00000209915] [ENSMUST00000210530] [ENSMUST00000210876] [ENSMUST00000211174]
AlphaFold Q99LW0
Predicted Effect probably damaging
Transcript: ENSMUST00000033905
AA Change: S134P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000033905
Gene: ENSMUSG00000031508
AA Change: S134P

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 probably damaging
Transcript: ENSMUST00000169782
AA Change: S134P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000131657
Gene: ENSMUSG00000031508
AA Change: S134P

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 probably damaging
Transcript: ENSMUST00000209915
AA Change: S61P

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000210530
AA Change: S134P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000210876
Predicted Effect probably damaging
Transcript: ENSMUST00000211174
AA Change: S134P

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (52/52)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 C T 5: 36,030,518 (GRCm39) A581V possibly damaging Het
Adam18 T A 8: 25,142,189 (GRCm39) M196L probably benign Het
Ano8 C T 8: 71,937,721 (GRCm39) G47D probably damaging Het
Arl6ip4 T C 5: 124,254,825 (GRCm39) V4A unknown Het
Cabp4 C T 19: 4,186,159 (GRCm39) M247I probably benign Het
Ccdc30 A T 4: 119,261,404 (GRCm39) L11Q probably damaging Het
Cdkl4 A G 17: 80,841,292 (GRCm39) S288P possibly damaging Het
Celsr3 A G 9: 108,707,062 (GRCm39) I1182V probably benign Het
Dnah17 T C 11: 117,979,028 (GRCm39) D1788G probably damaging Het
Dsp A G 13: 38,352,701 (GRCm39) D193G probably damaging Het
Dym T G 18: 75,189,809 (GRCm39) Y132* probably null Het
Dync2h1 G A 9: 7,141,008 (GRCm39) Q1340* probably null Het
Elmo1 T C 13: 20,458,791 (GRCm39) probably benign Het
Fbxw15 A C 9: 109,384,667 (GRCm39) F378V possibly damaging Het
Fsip2 G A 2: 82,811,453 (GRCm39) G2591R probably damaging Het
Gps2 C A 11: 69,806,180 (GRCm39) D148E probably benign Het
Iars2 T C 1: 185,023,615 (GRCm39) D772G possibly damaging Het
Ifit1 T A 19: 34,625,038 (GRCm39) L58Q probably benign Het
Kctd4 A T 14: 76,200,366 (GRCm39) Q112H probably benign Het
Letm1 A G 5: 33,919,849 (GRCm39) L230P probably damaging Het
Lrch4 G T 5: 137,638,125 (GRCm39) E136* probably null Het
Macc1 T C 12: 119,407,261 (GRCm39) probably benign Het
Macrod1 T C 19: 7,034,494 (GRCm39) L79P probably benign Het
Map2 T A 1: 66,453,781 (GRCm39) N890K probably damaging Het
Mctp1 G A 13: 76,789,922 (GRCm39) S270N probably benign Het
Mrpl44 C T 1: 79,755,708 (GRCm39) R105C probably damaging Het
Mtg1 T A 7: 139,717,688 (GRCm39) probably null Het
Mtg1 T C 7: 139,720,136 (GRCm39) F68L probably benign Het
Nfil3 A G 13: 53,122,047 (GRCm39) S286P possibly damaging Het
Nutm1 A G 2: 112,081,667 (GRCm39) V332A possibly damaging Het
Obscn T A 11: 59,026,792 (GRCm39) Q137L probably benign Het
Pcnx2 T G 8: 126,545,525 (GRCm39) E1162A probably damaging Het
Pgr A G 9: 8,900,818 (GRCm39) D117G possibly damaging Het
Plce1 T C 19: 38,513,345 (GRCm39) C215R probably benign Het
Rrm1 T G 7: 102,109,558 (GRCm39) Y461D probably damaging Het
Sbk3 C T 7: 4,972,991 (GRCm39) V60I possibly damaging Het
Scube1 G T 15: 83,494,471 (GRCm39) A852E possibly damaging Het
Sec24d T A 3: 123,137,541 (GRCm39) I561N probably damaging Het
Slc16a4 T C 3: 107,218,901 (GRCm39) *501Q probably null Het
Slc6a19 C A 13: 73,848,740 (GRCm39) V5L probably benign Het
Spryd3 A G 15: 102,041,920 (GRCm39) I34T possibly damaging Het
Syne1 A G 10: 5,266,040 (GRCm39) L2191P probably damaging Het
Tbrg1 A G 9: 37,563,955 (GRCm39) C227R probably damaging Het
Tdrd6 A G 17: 43,935,910 (GRCm39) S1713P probably benign Het
Thap12 C T 7: 98,356,283 (GRCm39) L57F probably benign Het
Top1 G A 2: 160,559,360 (GRCm39) V628I probably damaging Het
Trim67 A G 8: 125,547,074 (GRCm39) M495V probably null Het
Trio A C 15: 27,744,037 (GRCm39) probably benign Het
Vmn2r23 A T 6: 123,679,991 (GRCm39) Y71F Het
Ywhah A G 5: 33,184,535 (GRCm39) N246S probably benign Het
Zcwpw1 T C 5: 137,797,794 (GRCm39) I125T 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
R0393:Ankrd10 UTSW 8 11,685,482 (GRCm39) missense possibly damaging 0.58
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
R8897:Ankrd10 UTSW 8 11,665,788 (GRCm39) missense possibly damaging 0.61
Predicted Primers PCR Primer
(F):5'- AGGCACAACTCTACTGCTAATTTC -3'
(R):5'- GCAGAATGTTGTGGGCAGTC -3'

Sequencing Primer
(F):5'- CTTGTAAGGCTTTTGCTGC -3'
(R):5'- AGTCTGCCCTGTTGCCTGG -3'
Posted On 2021-04-30