Incidental Mutation 'IGL02679:Ankrd34c'
ID303274
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankrd34c
Ensembl Gene ENSMUSG00000047606
Gene Nameankyrin repeat domain 34C
SynonymsLOC330998, B230218L05Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.070) question?
Stock #IGL02679
Quality Score
Status
Chromosome9
Chromosomal Location89725245-89738475 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 89730079 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 70 (Y70N)
Ref Sequence ENSEMBL: ENSMUSP00000140919 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060700] [ENSMUST00000185470]
Predicted Effect probably damaging
Transcript: ENSMUST00000060700
AA Change: Y70N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000056787
Gene: ENSMUSG00000047606
AA Change: Y70N

DomainStartEndE-ValueType
ANK 10 39 1.16e3 SMART
ANK 43 80 1.46e-2 SMART
ANK 84 114 1.52e0 SMART
ANK 118 147 1.33e2 SMART
low complexity region 150 165 N/A INTRINSIC
low complexity region 462 474 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000185470
AA Change: Y70N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140919
Gene: ENSMUSG00000047606
AA Change: Y70N

DomainStartEndE-ValueType
ANK 10 39 1.16e3 SMART
ANK 43 80 1.46e-2 SMART
ANK 84 114 1.52e0 SMART
ANK 118 147 1.33e2 SMART
low complexity region 150 165 N/A INTRINSIC
low complexity region 462 474 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930442H23Rik T A 10: 81,182,979 probably benign Het
Adam5 A T 8: 24,806,526 Y302N probably damaging Het
Asph G A 4: 9,601,349 P190S possibly damaging Het
Atp6v1h T C 1: 5,124,302 C235R probably damaging Het
Brwd1 A G 16: 96,002,823 L2049P probably benign Het
Capn2 T A 1: 182,472,584 I614F probably benign Het
Ccdc126 T A 6: 49,334,061 M1K probably null Het
Cdh9 T C 15: 16,832,230 I401T probably damaging Het
Cep57l1 T C 10: 41,729,386 E121G probably damaging Het
Cfap46 A G 7: 139,614,470 I2276T probably damaging Het
Cnnm3 T C 1: 36,520,158 S490P probably benign Het
D430041D05Rik C T 2: 104,230,305 V731I possibly damaging Het
Fgf3 C A 7: 144,840,750 N100K probably damaging Het
Gas7 G A 11: 67,675,727 probably null Het
Gfm1 C T 3: 67,474,767 P725S possibly damaging Het
Gimap4 T A 6: 48,690,495 C61* probably null Het
Greb1 C T 12: 16,708,723 R664Q probably damaging Het
Kpnb1 T A 11: 97,177,260 I295F possibly damaging Het
Lamc3 A G 2: 31,945,398 E1577G probably benign Het
Lrrk1 C T 7: 66,274,872 V235M probably damaging Het
Mipol1 T A 12: 57,306,043 V56E possibly damaging Het
Mycbp2 T C 14: 103,205,185 I1927V probably benign Het
Ncaph A T 2: 127,124,864 N223K possibly damaging Het
Nipbl A G 15: 8,295,553 M2542T probably benign Het
Nolc1 C A 19: 46,083,029 probably benign Het
Olfr16 G A 1: 172,957,176 C127Y probably damaging Het
Olfr555 A G 7: 102,659,177 M119V possibly damaging Het
Pkhd1l1 T C 15: 44,530,045 probably null Het
Ppat A T 5: 76,919,469 C306S probably benign Het
Ptpn13 A T 5: 103,569,454 M1821L possibly damaging Het
Rabl3 C T 16: 37,541,925 S42L probably damaging Het
Rbm12 C T 2: 156,095,560 probably benign Het
Rfx3 G A 19: 27,849,737 H150Y possibly damaging Het
Rngtt A G 4: 33,356,098 M312V possibly damaging Het
Slc10a2 T A 8: 5,098,499 T149S probably damaging Het
Spata21 T C 4: 141,111,265 probably benign Het
Stx8 G T 11: 67,969,772 W6C probably damaging Het
Tcn2 T C 11: 3,927,504 E48G possibly damaging Het
Tctex1d2 T C 16: 32,425,307 V107A possibly damaging Het
Tecpr1 A T 5: 144,206,546 N670K probably benign Het
Tldc1 A T 8: 119,772,410 D114E probably benign Het
Tmem255b G A 8: 13,457,055 M240I probably benign Het
Ubr4 G A 4: 139,459,134 E651K probably damaging Het
Ubr5 T C 15: 38,002,314 T1498A probably benign Het
Vmn2r95 G A 17: 18,443,854 C445Y probably damaging Het
Zfp429 T A 13: 67,399,736 probably benign Het
Zfp804b T G 5: 6,771,392 D557A possibly damaging Het
Other mutations in Ankrd34c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00910:Ankrd34c APN 9 89729026 missense probably benign 0.15
IGL01630:Ankrd34c APN 9 89729826 missense probably damaging 0.99
IGL01683:Ankrd34c APN 9 89729797 missense probably benign 0.09
IGL01886:Ankrd34c APN 9 89730265 missense possibly damaging 0.71
IGL02323:Ankrd34c APN 9 89729980 missense possibly damaging 0.80
IGL03000:Ankrd34c APN 9 89729186 missense probably benign 0.00
IGL03008:Ankrd34c APN 9 89730284 start codon destroyed probably null 0.05
R0024:Ankrd34c UTSW 9 89729527 missense possibly damaging 0.93
R0107:Ankrd34c UTSW 9 89729484 missense probably benign
R1602:Ankrd34c UTSW 9 89729005 missense possibly damaging 0.66
R1879:Ankrd34c UTSW 9 89730073 missense probably damaging 1.00
R4114:Ankrd34c UTSW 9 89729874 missense probably damaging 1.00
R4115:Ankrd34c UTSW 9 89729874 missense probably damaging 1.00
R4116:Ankrd34c UTSW 9 89729874 missense probably damaging 1.00
R4291:Ankrd34c UTSW 9 89729764 nonsense probably null
R5012:Ankrd34c UTSW 9 89729656 missense probably benign 0.00
R5020:Ankrd34c UTSW 9 89729706 missense probably benign 0.16
R5747:Ankrd34c UTSW 9 89729761 missense possibly damaging 0.60
R6766:Ankrd34c UTSW 9 89729328 missense probably benign
R7011:Ankrd34c UTSW 9 89728948 nonsense probably null
X0022:Ankrd34c UTSW 9 89729826 missense probably damaging 0.99
Posted On2015-04-16