Incidental Mutation 'IGL02546:A730017C20Rik'
ID297844
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol A730017C20Rik
Ensembl Gene ENSMUSG00000050875
Gene NameRIKEN cDNA A730017C20 gene
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02546
Quality Score
Status
Chromosome18
Chromosomal Location59062248-59076962 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 59072275 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 45 (M45K)
Ref Sequence ENSEMBL: ENSMUSP00000135330 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058633] [ENSMUST00000117064] [ENSMUST00000118510] [ENSMUST00000165666] [ENSMUST00000175830]
Predicted Effect probably damaging
Transcript: ENSMUST00000058633
AA Change: M45K

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000056379
Gene: ENSMUSG00000050875
AA Change: M45K

DomainStartEndE-ValueType
Pfam:UPF0258 4 151 7.2e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117064
Predicted Effect probably damaging
Transcript: ENSMUST00000118510
AA Change: M45K

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113023
Gene: ENSMUSG00000050875
AA Change: M45K

DomainStartEndE-ValueType
Pfam:UPF0258 4 151 7.2e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154125
Predicted Effect possibly damaging
Transcript: ENSMUST00000165666
AA Change: M87K

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000125952
Gene: ENSMUSG00000050875
AA Change: M87K

DomainStartEndE-ValueType
Pfam:UPF0258 51 192 3.4e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000175830
AA Change: M45K

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000135330
Gene: ENSMUSG00000050875
AA Change: M45K

DomainStartEndE-ValueType
Pfam:UPF0258 4 150 6.2e-41 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000175897
AA Change: M77K
SMART Domains Protein: ENSMUSP00000135020
Gene: ENSMUSG00000050875
AA Change: M77K

DomainStartEndE-ValueType
Pfam:UPF0258 25 146 4e-30 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930444G20Rik A T 10: 22,066,927 W385R probably damaging Het
Akap6 G T 12: 52,880,738 V144L probably damaging Het
Carmil1 A T 13: 24,115,499 N347K probably damaging Het
Cyp4a32 A G 4: 115,611,323 Y334C probably damaging Het
Dmxl2 C A 9: 54,366,414 probably benign Het
Eps8 C T 6: 137,479,066 A806T probably benign Het
Evl A G 12: 108,648,419 N24S possibly damaging Het
Fbxo15 T C 18: 84,962,722 probably null Het
Gm14179 A T 11: 99,743,193 Het
Hepacam2 A G 6: 3,483,568 V147A possibly damaging Het
Jmjd1c C A 10: 67,225,336 P1156Q possibly damaging Het
Mab21l3 A T 3: 101,823,308 V205E probably damaging Het
Mad2l1 T C 6: 66,535,967 I28T probably damaging Het
Mroh9 T A 1: 163,080,576 I2F probably benign Het
Msr1 A T 8: 39,615,747 I302K probably benign Het
Msrb3 C T 10: 120,850,001 V80I possibly damaging Het
Ncf4 A G 15: 78,261,019 D269G probably damaging Het
Nsl1 T A 1: 191,071,201 H156Q probably benign Het
Nutm1 T C 2: 112,248,324 D1082G probably benign Het
Olfr812 T A 10: 129,842,547 D165V probably damaging Het
Olfr835 T A 9: 19,035,354 V77D possibly damaging Het
Orc4 T C 2: 48,917,284 I212V probably null Het
Pde6c A G 19: 38,140,040 I184V probably benign Het
Pfkfb3 A T 2: 11,488,778 F129Y probably damaging Het
Ppp3cb T C 14: 20,501,554 D493G probably benign Het
Psg29 A G 7: 17,208,782 Y236C probably damaging Het
Pzp C T 6: 128,494,699 probably benign Het
Sgf29 T A 7: 126,671,853 V180E probably damaging Het
Sh3bp4 A G 1: 89,143,544 probably benign Het
Slc39a2 A T 14: 51,895,163 T188S probably benign Het
Slc6a13 G T 6: 121,333,364 M327I probably benign Het
Slitrk6 T A 14: 110,749,794 H827L probably benign Het
Thumpd2 T G 17: 81,054,455 K114T probably benign Het
Tnfrsf19 A T 14: 60,973,538 C234S possibly damaging Het
Tns2 A G 15: 102,110,940 D446G probably damaging Het
Tpm4 A G 8: 72,144,703 E137G probably damaging Het
Ttn G A 2: 76,795,557 R13307C probably damaging Het
Ubqln3 A G 7: 104,142,518 S122P probably benign Het
Ubr5 T C 15: 38,008,747 D1080G probably benign Het
Ulk4 A T 9: 121,152,307 L886* probably null Het
Unc80 T C 1: 66,554,953 S1164P possibly damaging Het
Uspl1 T C 5: 149,204,304 V371A possibly damaging Het
Virma T C 4: 11,494,804 V35A probably damaging Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zfp787 A T 7: 6,132,298 I318N probably damaging Het
Other mutations in A730017C20Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00769:A730017C20Rik APN 18 59072277 missense probably damaging 0.98
IGL01363:A730017C20Rik APN 18 59072308 missense probably damaging 0.99
IGL01621:A730017C20Rik APN 18 59062386 start codon destroyed probably null 0.27
R0200:A730017C20Rik UTSW 18 59062459 unclassified probably null
R0390:A730017C20Rik UTSW 18 59075688 missense probably damaging 0.98
R0470:A730017C20Rik UTSW 18 59075639 missense probably damaging 1.00
R0608:A730017C20Rik UTSW 18 59062459 unclassified probably null
R1980:A730017C20Rik UTSW 18 59075667 missense probably damaging 0.96
R4916:A730017C20Rik UTSW 18 59072205 missense probably damaging 0.98
R6285:A730017C20Rik UTSW 18 59072224 missense probably benign 0.02
R7252:A730017C20Rik UTSW 18 59066908 critical splice acceptor site probably null
Posted On2015-04-16