Incidental Mutation 'R1846:Anks3'
ID 207758
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 039871-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1846 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 4759300-4782069 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 4771748 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 215 (M215R)
Ref Sequence ENSEMBL: ENSMUSP00000023157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023157] [ENSMUST00000229017] [ENSMUST00000229765]
AlphaFold Q9CZK6
Predicted Effect probably benign
Transcript: ENSMUST00000023157
AA Change: M215R

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000023157
Gene: ENSMUSG00000022515
AA Change: M215R

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: M92R

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000229765
AA Change: M215R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230083
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230493
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230721
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230771
Meta Mutation Damage Score 0.0578 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.6%
Validation Efficiency 99% (75/76)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik G A 7: 12,246,809 (GRCm39) R63Q probably benign Het
Adamts20 A T 15: 94,243,871 (GRCm39) C619S probably damaging Het
Alx1 T C 10: 102,861,165 (GRCm39) D121G possibly damaging Het
Anxa4 T A 6: 86,718,893 (GRCm39) probably null Het
Arhgef25 A G 10: 127,021,733 (GRCm39) V222A probably damaging Het
Bglap2 A G 3: 88,285,932 (GRCm39) probably benign Het
Cars2 A G 8: 11,564,674 (GRCm39) V22A probably benign Het
Ccdc198 G T 14: 49,473,420 (GRCm39) L102I probably damaging Het
Cenpe T A 3: 134,945,606 (GRCm39) I1040N probably damaging Het
Cep170 C T 1: 176,583,335 (GRCm39) D1015N probably damaging Het
Chia1 T A 3: 106,038,181 (GRCm39) I359N probably damaging Het
Crot A T 5: 9,038,248 (GRCm39) V93E probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dnmbp T C 19: 43,891,186 (GRCm39) I194V probably damaging Het
Dock4 T A 12: 40,783,267 (GRCm39) C734S probably benign Het
Eif4e3 T C 6: 99,617,662 (GRCm39) S70G probably benign Het
Entpd3 G A 9: 120,387,441 (GRCm39) D213N probably benign Het
Ern2 T G 7: 121,775,759 (GRCm39) Y445S probably benign Het
Fasn A G 11: 120,704,133 (GRCm39) S1429P probably benign Het
Fat4 A G 3: 39,036,532 (GRCm39) I3395V probably benign Het
Fbln2 C A 6: 91,233,399 (GRCm39) Q628K possibly damaging Het
Fbxo28 T C 1: 182,153,845 (GRCm39) N164D probably benign Het
Fez1 T C 9: 36,779,063 (GRCm39) S247P probably damaging Het
Gars1 A G 6: 55,040,153 (GRCm39) D360G probably benign Het
Gcfc2 A T 6: 81,933,873 (GRCm39) Q710L probably damaging Het
Ggt5 A G 10: 75,446,376 (GRCm39) probably null Het
Glp1r A G 17: 31,148,909 (GRCm39) probably null Het
Hspa14 T C 2: 3,492,697 (GRCm39) D356G possibly damaging Het
Htt T A 5: 35,006,288 (GRCm39) I1399N probably damaging Het
Kmt2e G A 5: 23,704,484 (GRCm39) probably benign Het
Krt36 C A 11: 99,996,374 (GRCm39) G17C probably damaging Het
Lama2 T C 10: 27,088,092 (GRCm39) E895G probably damaging Het
Lamb2 G A 9: 108,364,586 (GRCm39) R1142H probably benign Het
Lhcgr C T 17: 89,072,575 (GRCm39) probably null Het
Lpin2 A G 17: 71,532,064 (GRCm39) T140A probably benign Het
Metap1 A G 3: 138,186,443 (GRCm39) probably benign Het
Mpeg1 T C 19: 12,440,486 (GRCm39) V648A probably benign Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Muc4 T A 16: 32,752,369 (GRCm38) I749N probably benign Het
N4bp2 T C 5: 65,965,862 (GRCm39) F1304L probably damaging Het
Nup85 A G 11: 115,459,239 (GRCm39) E114G probably benign Het
Or2a5 A G 6: 42,874,254 (GRCm39) S290G probably damaging Het
Or4c10 A G 2: 89,761,010 (GRCm39) T286A possibly damaging Het
Or6b2b A T 1: 92,418,822 (GRCm39) Y218* probably null Het
Pafah2 GCCCC GCCCCC 4: 134,152,852 (GRCm39) probably null Het
Parp2 T A 14: 51,052,843 (GRCm39) C145* probably null Het
Plpp6 T C 19: 28,941,680 (GRCm39) S94P probably benign Het
Polr1a T C 6: 71,953,172 (GRCm39) I1580T probably damaging Het
Polrmt A T 10: 79,574,043 (GRCm39) V860E probably damaging Het
Ppp1r17 A G 6: 55,999,412 (GRCm39) E15G possibly damaging Het
Prl7b1 A T 13: 27,786,831 (GRCm39) W133R probably damaging Het
Ptk7 A G 17: 46,887,416 (GRCm39) probably null Het
Rad23b C T 4: 55,383,637 (GRCm39) Q290* probably null Het
Rorb C T 19: 18,932,445 (GRCm39) E369K probably damaging Het
Rusc1 T C 3: 88,999,452 (GRCm39) D110G probably damaging Het
Smg7 A G 1: 152,724,601 (GRCm39) S527P probably damaging Het
Ssbp2 C T 13: 91,812,268 (GRCm39) P105L probably damaging Het
Stt3a C T 9: 36,674,681 (GRCm39) R34H probably damaging Het
Sufu T A 19: 46,439,386 (GRCm39) I202N possibly damaging Het
Thsd7b G A 1: 129,540,993 (GRCm39) R289Q probably damaging Het
Tph1 A T 7: 46,309,863 (GRCm39) S130T probably damaging Het
Ttn A G 2: 76,776,030 (GRCm39) S1671P probably damaging Het
Usp4 A G 9: 108,249,935 (GRCm39) I441V probably benign Het
Vmn1r8 A G 6: 57,013,413 (GRCm39) N155D probably benign Het
Vmn2r115 A C 17: 23,578,357 (GRCm39) K610T probably damaging Het
Vmn2r62 G A 7: 42,438,546 (GRCm39) P97S probably damaging Het
Zbtb40 T C 4: 136,735,150 (GRCm39) D297G probably benign Het
Zfp174 C A 16: 3,672,599 (GRCm39) Q383K probably benign Het
Zfp318 T A 17: 46,724,592 (GRCm39) D2198E probably benign Het
Zfp628 C T 7: 4,923,866 (GRCm39) P696L possibly damaging Het
Zgrf1 T A 3: 127,409,112 (GRCm39) N1695K probably damaging 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
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
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'- AGCCTAACCTGAGCAAAGGG -3'
(R):5'- AATGTTACCAGACCTTCTCGCC -3'

Sequencing Primer
(F):5'- TAACCTGAGCAAAGGGTTAGATTAG -3'
(R):5'- CCCTAGTGGTATCTCAAAAGGG -3'
Posted On 2014-06-23