Incidental Mutation 'IGL01886:Ankrd34c'
ID 179141
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankrd34c
Ensembl Gene ENSMUSG00000047606
Gene Name ankyrin repeat domain 34C
Synonyms LOC330998, B230218L05Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock # IGL01886
Quality Score
Status
Chromosome 9
Chromosomal Location 89725245-89738475 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89730265 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Methionine at position 8 (L8M)
Ref Sequence ENSEMBL: ENSMUSP00000140919 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060700] [ENSMUST00000185470]
AlphaFold Q8BLB8
Predicted Effect possibly damaging
Transcript: ENSMUST00000060700
AA Change: L8M

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000056787
Gene: ENSMUSG00000047606
AA Change: L8M

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 possibly damaging
Transcript: ENSMUST00000185470
AA Change: L8M

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000140919
Gene: ENSMUSG00000047606
AA Change: L8M

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt1 C T 12: 112,659,158 V136M probably benign Het
Anks6 C A 4: 47,044,850 W352L probably damaging Het
Arhgap12 A T 18: 6,027,613 N768K probably damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Clec7a A T 6: 129,463,177 probably benign Het
Cyp3a13 G A 5: 137,898,820 P411S probably damaging Het
Elavl2 A G 4: 91,264,093 V129A probably damaging Het
Ercc6 T A 14: 32,569,580 S994T possibly damaging Het
Esco1 T A 18: 10,595,262 K8I probably damaging Het
Esr1 T A 10: 4,856,861 I259K probably damaging Het
Filip1l A G 16: 57,571,250 I734V possibly damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Grin3a T A 4: 49,702,814 I891F probably damaging Het
Kat7 T C 11: 95,306,133 T27A probably benign Het
Kdm1a A G 4: 136,561,016 probably null Het
Kifc5b T C 17: 26,932,117 V663A probably damaging Het
Lama1 T G 17: 67,807,797 S2314A probably benign Het
Lrrc69 C T 4: 14,703,984 V279I probably benign Het
Mast3 A T 8: 70,782,139 L774Q possibly damaging Het
Med27 C A 2: 29,413,482 P9Q probably damaging Het
Myo5a C A 9: 75,169,090 probably benign Het
Myoz1 T C 14: 20,655,309 K14E probably damaging Het
Neb T C 2: 52,183,845 probably benign Het
Nlrp1a T C 11: 71,123,501 T308A probably benign Het
Olfr364-ps1 A G 2: 37,146,509 Y99C probably damaging Het
Olfr926 G T 9: 38,877,548 C124F probably damaging Het
Orc1 T A 4: 108,603,957 probably null Het
Pnkp G A 7: 44,862,207 A76T probably damaging Het
Polr3h T C 15: 81,917,390 E95G probably damaging Het
Prpf40b T A 15: 99,304,447 M62K unknown Het
Prpf8 C A 11: 75,495,744 Q1075K probably benign Het
Ptprg A G 14: 12,179,280 K766E probably benign Het
Rabgap1l A T 1: 160,342,042 N778K probably damaging Het
Riok3 T A 18: 12,139,385 N204K probably damaging Het
Shank3 A G 15: 89,531,663 K650E probably damaging Het
Sim1 T A 10: 50,984,315 S758T probably damaging Het
Slu7 T G 11: 43,439,260 N171K probably damaging Het
Sult6b2 A G 6: 142,790,126 probably null Het
Taf6l C T 19: 8,778,086 probably null Het
Ubtfl1 G A 9: 18,409,721 V182M possibly damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript 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
IGL02323:Ankrd34c APN 9 89729980 missense possibly damaging 0.80
IGL02679:Ankrd34c APN 9 89730079 missense probably damaging 1.00
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
R7614:Ankrd34c UTSW 9 89728861 missense probably damaging 0.96
R7651:Ankrd34c UTSW 9 89729410 missense possibly damaging 0.84
R8006:Ankrd34c UTSW 9 89729836 missense probably damaging 1.00
R8082:Ankrd34c UTSW 9 89728715 missense probably damaging 1.00
R8337:Ankrd34c UTSW 9 89729898 missense probably damaging 0.98
R8891:Ankrd34c UTSW 9 89730090 missense probably damaging 1.00
R9245:Ankrd34c UTSW 9 89728887 missense probably damaging 0.97
R9361:Ankrd34c UTSW 9 89730130 missense probably damaging 0.98
R9392:Ankrd34c UTSW 9 89729734 missense possibly damaging 0.82
X0022:Ankrd34c UTSW 9 89729826 missense probably damaging 0.99
Posted On 2014-05-07