Incidental Mutation 'R0051:Anks3'
ID 64309
Institutional Source Beutler Lab
Gene Symbol Anks3
Ensembl Gene ENSMUSG00000022515
Gene Name ankyrin repeat and sterile alpha motif domain containing 3
Synonyms 2700067D09Rik
MMRRC Submission 038345-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0051 (G1)
Quality Score 188
Status Validated
Chromosome 16
Chromosomal Location 4759300-4782069 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 4765613 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 163 (T163S)
Ref Sequence ENSEMBL: ENSMUSP00000155720 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023157] [ENSMUST00000229017] [ENSMUST00000229765]
AlphaFold Q9CZK6
Predicted Effect probably benign
Transcript: ENSMUST00000023157
AA Change: T338S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000023157
Gene: ENSMUSG00000022515
AA Change: T338S

DomainStartEndE-ValueType
ANK 34 64 1.25e2 SMART
ANK 68 97 9.93e-5 SMART
ANK 101 130 9.13e-4 SMART
ANK 134 163 2.45e-4 SMART
ANK 168 197 9.27e-5 SMART
ANK 201 230 5.87e2 SMART
SAM 421 487 9.8e-12 SMART
coiled coil region 500 533 N/A INTRINSIC
low complexity region 559 573 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000229017
AA Change: T163S

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect unknown
Transcript: ENSMUST00000229272
AA Change: T42S
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229477
Predicted Effect probably benign
Transcript: ENSMUST00000229765
AA Change: T338S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230083
Predicted Effect probably benign
Transcript: ENSMUST00000231036
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230493
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230466
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 93.8%
Validation Efficiency 100% (64/64)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A G 7: 29,278,526 (GRCm39) noncoding transcript Het
Abr T A 11: 76,363,328 (GRCm39) Q163L probably benign Het
Ankrd11 C A 8: 123,616,481 (GRCm39) C2457F probably damaging Het
Cacna1d G A 14: 29,833,052 (GRCm39) P908S probably damaging Het
Ccdc146 C A 5: 21,521,902 (GRCm39) R374L possibly damaging Het
Cdc45 G T 16: 18,613,524 (GRCm39) A348E probably damaging Het
Cfap46 A G 7: 139,255,951 (GRCm39) C300R probably damaging Het
Cimap1a C A 7: 140,430,134 (GRCm39) probably benign Het
Coq2 T C 5: 100,811,551 (GRCm39) N146S probably benign Het
Dalrd3 T C 9: 108,449,414 (GRCm39) V120A possibly damaging Het
Dcp2 T A 18: 44,538,441 (GRCm39) probably benign Het
Ddx39a A G 8: 84,447,251 (GRCm39) K137R possibly damaging Het
Diaph3 A G 14: 87,274,890 (GRCm39) probably null Het
Dmbt1 G T 7: 130,721,225 (GRCm39) R1668L possibly damaging Het
Dnah7a T G 1: 53,560,245 (GRCm39) probably benign Het
Dpp7 A G 2: 25,246,107 (GRCm39) Y49H possibly damaging Het
Drd5 A G 5: 38,477,957 (GRCm39) S317G probably benign Het
Ecpas A G 4: 58,832,729 (GRCm39) L877S probably damaging Het
Ecsit C T 9: 21,987,584 (GRCm39) V152I probably benign Het
Eeig1 G A 2: 32,448,065 (GRCm39) R58Q possibly damaging Het
Emc1 T A 4: 139,102,474 (GRCm39) M923K possibly damaging Het
Fcrl6 A T 1: 172,426,320 (GRCm39) L159Q probably benign Het
Frrs1 T C 3: 116,678,946 (GRCm39) probably benign Het
Hspd1 A G 1: 55,121,205 (GRCm39) probably benign Het
Impg2 T A 16: 56,078,411 (GRCm39) S458T probably damaging Het
Klf17 T C 4: 117,617,589 (GRCm39) Y256C probably damaging Het
Lnx2 A G 5: 146,966,163 (GRCm39) F319L probably damaging Het
Mafg G T 11: 120,520,430 (GRCm39) R57S probably damaging Het
Med13l T A 5: 118,880,720 (GRCm39) W1271R probably damaging Het
Mrgprb1 A G 7: 48,096,962 (GRCm39) S24P probably benign Het
Mtrf1l T C 10: 5,763,384 (GRCm39) E315G probably damaging Het
Naip1 T C 13: 100,547,509 (GRCm39) E1239G probably damaging Het
Ncaph2 T C 15: 89,253,867 (GRCm39) S320P probably damaging Het
Nek11 A G 9: 105,095,738 (GRCm39) probably benign Het
Nlrp2 A T 7: 5,325,333 (GRCm39) probably benign Het
Rbm26 A C 14: 105,389,976 (GRCm39) V216G possibly damaging Het
Rnf115 A G 3: 96,692,338 (GRCm39) D178G probably damaging Het
Rtel1 C T 2: 180,992,449 (GRCm39) Q424* probably null Het
Rwdd4a A G 8: 47,990,400 (GRCm39) probably benign Het
Ryr3 T C 2: 112,699,420 (GRCm39) D890G probably damaging Het
Scarb1 C A 5: 125,358,164 (GRCm39) probably null Het
Serpina10 A G 12: 103,593,156 (GRCm39) probably benign Het
Slc12a5 T A 2: 164,828,583 (GRCm39) W508R probably damaging Het
Slc43a2 T C 11: 75,453,676 (GRCm39) C225R probably damaging Het
Slc6a9 T C 4: 117,722,056 (GRCm39) F440L probably damaging Het
Stac3 G A 10: 127,344,017 (GRCm39) R305H probably damaging Het
Stk32b A G 5: 37,616,940 (GRCm39) probably benign Het
Syna A T 5: 134,588,397 (GRCm39) L184H probably damaging Het
Tmprss7 T C 16: 45,494,302 (GRCm39) N401S probably damaging Het
Tut4 T G 4: 108,384,201 (GRCm39) S1089R probably damaging Het
Yeats2 T A 16: 20,012,474 (GRCm39) Y557* probably null Het
Zfp352 T C 4: 90,112,522 (GRCm39) S221P probably damaging Het
Zfp575 A G 7: 24,285,512 (GRCm39) V43A probably benign Het
Zfp775 A G 6: 48,597,706 (GRCm39) T527A probably benign Het
Other mutations in Anks3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00857:Anks3 APN 16 4,771,793 (GRCm39) missense possibly damaging 0.93
IGL01705:Anks3 APN 16 4,765,587 (GRCm39) missense probably benign 0.00
IGL01953:Anks3 APN 16 4,778,408 (GRCm39) missense probably damaging 1.00
IGL02378:Anks3 APN 16 4,768,626 (GRCm39) missense possibly damaging 0.91
IGL03126:Anks3 APN 16 4,775,891 (GRCm39) missense probably damaging 1.00
R0051:Anks3 UTSW 16 4,765,613 (GRCm39) missense probably benign 0.16
R0661:Anks3 UTSW 16 4,766,198 (GRCm39) missense probably damaging 1.00
R0855:Anks3 UTSW 16 4,773,811 (GRCm39) splice site probably benign
R0932:Anks3 UTSW 16 4,771,691 (GRCm39) missense probably damaging 1.00
R1604:Anks3 UTSW 16 4,766,117 (GRCm39) missense probably damaging 0.99
R1773:Anks3 UTSW 16 4,765,158 (GRCm39) missense probably benign
R1846:Anks3 UTSW 16 4,771,748 (GRCm39) missense probably benign 0.07
R1928:Anks3 UTSW 16 4,763,918 (GRCm39) critical splice donor site probably null
R2323:Anks3 UTSW 16 4,768,634 (GRCm39) critical splice acceptor site probably null
R3916:Anks3 UTSW 16 4,765,143 (GRCm39) missense probably damaging 0.97
R5597:Anks3 UTSW 16 4,771,793 (GRCm39) missense possibly damaging 0.93
R5993:Anks3 UTSW 16 4,776,001 (GRCm39) missense probably damaging 1.00
R7345:Anks3 UTSW 16 4,773,774 (GRCm39) missense possibly damaging 0.88
R7373:Anks3 UTSW 16 4,773,735 (GRCm39) missense probably benign 0.00
R8710:Anks3 UTSW 16 4,775,976 (GRCm39) nonsense probably null
R9629:Anks3 UTSW 16 4,775,565 (GRCm39) missense probably damaging 0.99
R9691:Anks3 UTSW 16 4,759,840 (GRCm39) missense probably benign 0.00
R9698:Anks3 UTSW 16 4,766,113 (GRCm39) missense probably benign
Z1176:Anks3 UTSW 16 4,768,578 (GRCm39) missense probably benign 0.38
Predicted Primers PCR Primer
(F):5'- ACACTCAAGGTTCAGAGTCCTCCAG -3'
(R):5'- GCAGTGCCTTACCAAGTTCCTGTC -3'

Sequencing Primer
(F):5'- GTCCTCCAGGCATTGTGTAGAC -3'
(R):5'- AAGTTCCTGTCTCATGCCAAG -3'
Posted On 2013-08-06