Incidental Mutation 'IGL03000:Ankrd34c'
ID 407298
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankrd34c
Ensembl Gene ENSMUSG00000047606
Gene Name ankyrin repeat domain 34C
Synonyms B230218L05Rik, LOC330998
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # IGL03000
Quality Score
Status
Chromosome 9
Chromosomal Location 89607298-89620528 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89611239 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 367 (D367E)
Ref Sequence ENSEMBL: ENSMUSP00000140919 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060700] [ENSMUST00000185470]
AlphaFold Q8BLB8
Predicted Effect probably benign
Transcript: ENSMUST00000060700
AA Change: D367E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000056787
Gene: ENSMUSG00000047606
AA Change: D367E

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 benign
Transcript: ENSMUST00000185470
AA Change: D367E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000140919
Gene: ENSMUSG00000047606
AA Change: D367E

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,360,959 (GRCm39) S445G probably benign Het
Abca5 C T 11: 110,208,640 (GRCm39) V226I probably benign Het
Bmp6 G T 13: 38,682,887 (GRCm39) probably benign Het
Cacna2d2 T C 9: 107,401,397 (GRCm39) probably null Het
Cblb T G 16: 52,024,905 (GRCm39) D933E probably damaging Het
Ccny A G 18: 9,353,489 (GRCm39) S95P probably benign Het
Cep192 A G 18: 67,985,115 (GRCm39) I1658V probably damaging Het
Cntn6 A T 6: 104,781,347 (GRCm39) T478S probably damaging Het
Cpne7 T C 8: 123,853,435 (GRCm39) F247L probably benign Het
Csf1r A G 18: 61,242,724 (GRCm39) E29G probably damaging Het
Dctn3 T A 4: 41,719,912 (GRCm39) I65F possibly damaging Het
Dock1 A G 7: 134,390,969 (GRCm39) E743G probably benign Het
Dus2 C A 8: 106,775,316 (GRCm39) T281N probably damaging Het
Gbx1 G T 5: 24,709,924 (GRCm39) T307K probably benign Het
Gtf2ird2 A T 5: 134,223,745 (GRCm39) N93I probably benign Het
Heatr1 A G 13: 12,449,292 (GRCm39) D1930G probably damaging Het
Hif3a T C 7: 16,782,564 (GRCm39) I334V probably benign Het
Ints1 G T 5: 139,752,261 (GRCm39) N756K probably benign Het
Kcnn2 T C 18: 45,693,635 (GRCm39) F404L probably damaging Het
Kmt2c G A 5: 25,489,170 (GRCm39) R4590W probably damaging Het
Limk1 A T 5: 134,699,355 (GRCm39) V134E probably damaging Het
Mep1a A G 17: 43,785,881 (GRCm39) V736A probably benign Het
Mex3a T A 3: 88,443,602 (GRCm39) I226N probably damaging Het
Mgl2 A T 11: 70,025,026 (GRCm39) K16* probably null Het
Mms22l G T 4: 24,581,161 (GRCm39) V864L probably damaging Het
Mroh4 T A 15: 74,487,963 (GRCm39) M320L probably benign Het
Mylk3 G A 8: 86,085,806 (GRCm39) P243S probably damaging Het
Nbea A C 3: 55,912,048 (GRCm39) D1246E possibly damaging Het
Ndnf A G 6: 65,680,299 (GRCm39) T193A possibly damaging Het
Nfasc T C 1: 132,549,247 (GRCm39) probably benign Het
Or6k8-ps1 A G 1: 173,979,126 (GRCm39) T15A probably benign Het
Ptprq A T 10: 107,378,518 (GRCm39) F2008I probably damaging Het
Rhag A G 17: 41,139,413 (GRCm39) K116R probably benign Het
Rictor T A 15: 6,798,721 (GRCm39) probably benign Het
Slc35f5 C A 1: 125,502,479 (GRCm39) T277N probably damaging Het
Sorcs2 A G 5: 36,222,675 (GRCm39) probably benign Het
Ssh2 T A 11: 77,312,032 (GRCm39) probably benign Het
Togaram2 T C 17: 72,024,365 (GRCm39) S830P probably benign Het
Trim30d T C 7: 104,122,476 (GRCm39) T112A probably benign Het
Ttc34 T C 4: 154,949,888 (GRCm39) V947A probably damaging Het
Ttn A G 2: 76,642,953 (GRCm39) probably benign Het
Ubr5 A T 15: 38,025,096 (GRCm39) V560D probably damaging Het
Ush2a A T 1: 188,282,053 (GRCm39) E1856V possibly damaging Het
Zfp142 T C 1: 74,612,777 (GRCm39) M457V probably benign Het
Zfp711 C T X: 111,534,555 (GRCm39) Q137* probably null Het
Zkscan17 T C 11: 59,377,986 (GRCm39) Y399C probably damaging Het
Zswim6 T G 13: 107,863,649 (GRCm39) noncoding transcript Het
Zswim6 T A 13: 107,863,650 (GRCm39) noncoding transcript Het
Other mutations in Ankrd34c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00910:Ankrd34c APN 9 89,611,079 (GRCm39) missense probably benign 0.15
IGL01630:Ankrd34c APN 9 89,611,879 (GRCm39) missense probably damaging 0.99
IGL01683:Ankrd34c APN 9 89,611,850 (GRCm39) missense probably benign 0.09
IGL01886:Ankrd34c APN 9 89,612,318 (GRCm39) missense possibly damaging 0.71
IGL02323:Ankrd34c APN 9 89,612,033 (GRCm39) missense possibly damaging 0.80
IGL02679:Ankrd34c APN 9 89,612,132 (GRCm39) missense probably damaging 1.00
IGL03008:Ankrd34c APN 9 89,612,337 (GRCm39) start codon destroyed probably null 0.05
R0024:Ankrd34c UTSW 9 89,611,580 (GRCm39) missense possibly damaging 0.93
R0107:Ankrd34c UTSW 9 89,611,537 (GRCm39) missense probably benign
R1602:Ankrd34c UTSW 9 89,611,058 (GRCm39) missense possibly damaging 0.66
R1879:Ankrd34c UTSW 9 89,612,126 (GRCm39) missense probably damaging 1.00
R4114:Ankrd34c UTSW 9 89,611,927 (GRCm39) missense probably damaging 1.00
R4115:Ankrd34c UTSW 9 89,611,927 (GRCm39) missense probably damaging 1.00
R4116:Ankrd34c UTSW 9 89,611,927 (GRCm39) missense probably damaging 1.00
R4291:Ankrd34c UTSW 9 89,611,817 (GRCm39) nonsense probably null
R5012:Ankrd34c UTSW 9 89,611,709 (GRCm39) missense probably benign 0.00
R5020:Ankrd34c UTSW 9 89,611,759 (GRCm39) missense probably benign 0.16
R5747:Ankrd34c UTSW 9 89,611,814 (GRCm39) missense possibly damaging 0.60
R6766:Ankrd34c UTSW 9 89,611,381 (GRCm39) missense probably benign
R7011:Ankrd34c UTSW 9 89,611,001 (GRCm39) nonsense probably null
R7614:Ankrd34c UTSW 9 89,610,914 (GRCm39) missense probably damaging 0.96
R7651:Ankrd34c UTSW 9 89,611,463 (GRCm39) missense possibly damaging 0.84
R8006:Ankrd34c UTSW 9 89,611,889 (GRCm39) missense probably damaging 1.00
R8082:Ankrd34c UTSW 9 89,610,768 (GRCm39) missense probably damaging 1.00
R8337:Ankrd34c UTSW 9 89,611,951 (GRCm39) missense probably damaging 0.98
R8891:Ankrd34c UTSW 9 89,612,143 (GRCm39) missense probably damaging 1.00
R9245:Ankrd34c UTSW 9 89,610,940 (GRCm39) missense probably damaging 0.97
R9361:Ankrd34c UTSW 9 89,612,183 (GRCm39) missense probably damaging 0.98
R9392:Ankrd34c UTSW 9 89,611,787 (GRCm39) missense possibly damaging 0.82
X0022:Ankrd34c UTSW 9 89,611,879 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02