Incidental Mutation 'IGL01953:Anks3'
ID181355
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Anks3
Ensembl Gene ENSMUSG00000022515
Gene Nameankyrin repeat and sterile alpha motif domain containing 3
Synonyms2700067D09Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.368) question?
Stock #IGL01953
Quality Score
Status
Chromosome16
Chromosomal Location4941436-4964205 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 4960544 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 8 (A8V)
Ref Sequence ENSEMBL: ENSMUSP00000155302 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023157] [ENSMUST00000090457] [ENSMUST00000229017] [ENSMUST00000229765]
Predicted Effect probably damaging
Transcript: ENSMUST00000023157
AA Change: A8V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000023157
Gene: ENSMUSG00000022515
AA Change: A8V

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 noncoding transcript
Transcript: ENSMUST00000090457
SMART Domains Protein: ENSMUSP00000087942
Gene: ENSMUSG00000022543

DomainStartEndE-ValueType
Pfam:DUF4701 1 195 7.5e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000229017
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229077
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229669
Predicted Effect probably damaging
Transcript: ENSMUST00000229765
AA Change: A8V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230721
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230771
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231040
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231077
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik T C 7: 131,224,980 M261T probably benign Het
Atp6v0a4 A G 6: 38,054,617 S650P probably damaging Het
B3glct C A 5: 149,745,535 D311E probably benign Het
Cc2d1a G A 8: 84,143,978 P119S probably benign Het
Chdh T C 14: 30,035,347 V409A probably benign Het
Cipc T A 12: 86,952,764 V4E possibly damaging Het
Dock2 G T 11: 34,732,356 T70K probably benign Het
Dpf1 T C 7: 29,314,307 V269A probably damaging Het
Drc7 A T 8: 95,059,125 Y203F probably damaging Het
Dsg3 C T 18: 20,525,304 T324I probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Iqcd A T 5: 120,600,489 N124I probably benign Het
Kdm7a T C 6: 39,146,902 N776S probably benign Het
Lama5 C T 2: 180,190,704 R1684H probably damaging Het
Lrp12 A T 15: 39,878,101 V406D probably damaging Het
Lrrc74a T A 12: 86,741,720 L158Q probably damaging Het
Mef2d C T 3: 88,156,506 T80I probably damaging Het
Megf11 T C 9: 64,690,088 C681R probably damaging Het
Mex3c A G 18: 73,590,033 D399G probably damaging Het
Muc20 T C 16: 32,793,703 T435A probably benign Het
Myo5b T C 18: 74,569,767 Y10H possibly damaging Het
Olfr103 T C 17: 37,336,875 D119G probably damaging Het
Olfr1286 A G 2: 111,420,312 L213P probably benign Het
Otoa T A 7: 121,160,325 probably null Het
P4ha2 T C 11: 54,114,170 F124S probably benign Het
Phkg2 C T 7: 127,582,340 P232S probably damaging Het
Piezo1 T A 8: 122,491,184 Q800L probably damaging Het
Pign C A 1: 105,589,039 probably benign Het
Pik3r5 A G 11: 68,494,171 D634G probably benign Het
Ptpn9 A G 9: 57,056,788 T402A possibly damaging Het
Relb A C 7: 19,615,557 probably null Het
Scgb1b30 A G 7: 34,099,877 Q78R probably damaging Het
Sema6a C T 18: 47,290,120 W273* probably null Het
Sestd1 A G 2: 77,212,469 V247A possibly damaging Het
Specc1 T A 11: 62,118,296 S293T probably benign Het
Sptbn2 A G 19: 4,749,693 D2145G probably benign Het
Trim43b T A 9: 89,085,443 D380V possibly damaging Het
Vmn1r236 A G 17: 21,287,211 Y197C possibly damaging Het
Vmn1r79 A G 7: 12,176,455 Y88C probably damaging Het
Vmn2r61 G A 7: 42,300,189 V678M probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wdfy3 A T 5: 101,895,028 Y1937* probably null Het
Other mutations in Anks3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00857:Anks3 APN 16 4953929 missense possibly damaging 0.93
IGL01705:Anks3 APN 16 4947723 missense probably benign 0.00
IGL02378:Anks3 APN 16 4950762 missense possibly damaging 0.91
IGL03126:Anks3 APN 16 4958027 missense probably damaging 1.00
R0051:Anks3 UTSW 16 4947749 missense probably benign 0.16
R0051:Anks3 UTSW 16 4947749 missense probably benign 0.16
R0661:Anks3 UTSW 16 4948334 missense probably damaging 1.00
R0855:Anks3 UTSW 16 4955947 splice site probably benign
R0932:Anks3 UTSW 16 4953827 missense probably damaging 1.00
R1604:Anks3 UTSW 16 4948253 missense probably damaging 0.99
R1773:Anks3 UTSW 16 4947294 missense probably benign
R1846:Anks3 UTSW 16 4953884 missense probably benign 0.07
R1928:Anks3 UTSW 16 4946054 critical splice donor site probably null
R2323:Anks3 UTSW 16 4950770 critical splice acceptor site probably null
R3916:Anks3 UTSW 16 4947279 missense probably damaging 0.97
R5597:Anks3 UTSW 16 4953929 missense possibly damaging 0.93
R5993:Anks3 UTSW 16 4958137 missense probably damaging 1.00
Posted On2014-05-07