Incidental Mutation 'IGL02805:C130073F10Rik'
ID 360393
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C130073F10Rik
Ensembl Gene ENSMUSG00000046133
Gene Name RIKEN cDNA C130073F10 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.053) question?
Stock # IGL02805
Quality Score
Status
Chromosome 4
Chromosomal Location 101890020-101893789 bp(-) (GRCm38)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 101890974 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000059092 (fasta)
AlphaFold Q8C4L8
Predicted Effect probably null
Transcript: ENSMUST00000051043
AA Change: M1K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117669
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T C 11: 84,223,133 probably benign Het
Ankdd1b A G 13: 96,444,302 S163P probably benign Het
Ap5z1 G A 5: 142,470,283 probably benign Het
Asb14 A G 14: 26,901,187 N172S possibly damaging Het
Avil G A 10: 127,007,617 V139I possibly damaging Het
Ccdc189 T C 7: 127,586,394 D121G possibly damaging Het
Ccdc33 T A 9: 58,098,591 I37F probably benign Het
Ccdc9 T C 7: 16,275,274 M550V probably benign Het
Cgn T A 3: 94,774,377 L469F probably damaging Het
Dnaaf3 C T 7: 4,523,705 G458R possibly damaging Het
Dscaml1 T A 9: 45,447,897 N151K probably damaging Het
Dsel A G 1: 111,862,316 V163A probably damaging Het
Dusp27 T C 1: 166,099,061 E994G probably damaging Het
Epg5 A G 18: 78,030,191 probably benign Het
Fanca A T 8: 123,289,494 I670N probably damaging Het
Fsip2 T C 2: 82,993,495 V6524A probably benign Het
Gm10985 T C 3: 53,845,093 probably null Het
Gm1818 C T 12: 48,555,735 noncoding transcript Het
Hars2 C T 18: 36,787,577 R158* probably null Het
Htr5b A G 1: 121,527,888 V101A probably damaging Het
Ipp A G 4: 116,529,688 I356V possibly damaging Het
Itga8 T A 2: 12,189,480 N703I possibly damaging Het
Olfr147 T A 9: 38,403,836 probably benign Het
Ppp6r3 T C 19: 3,492,428 N406D probably benign Het
Rbbp6 G A 7: 123,001,188 probably benign Het
Rgs7 T C 1: 175,149,696 Y114C probably damaging Het
Ripor1 A G 8: 105,617,571 T446A probably damaging Het
Rnf213 A G 11: 119,435,066 D1562G probably damaging Het
Scaf11 A T 15: 96,420,182 D500E possibly damaging Het
Spock1 A G 13: 57,907,577 I4T possibly damaging Het
Srebf2 C A 15: 82,169,844 N35K probably benign Het
Srgap3 G T 6: 112,727,263 H922N probably damaging Het
Stk32c A C 7: 139,121,846 H112Q probably damaging Het
Thumpd3 A G 6: 113,066,797 D391G probably damaging Het
Vmn2r38 T A 7: 9,075,547 H612L probably damaging Het
Vsig10l T G 7: 43,465,242 I289S probably damaging Het
Wwox G A 8: 114,712,013 G273E probably damaging Het
Zscan4d T G 7: 11,164,970 probably benign Het
Other mutations in C130073F10Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02869:C130073F10Rik APN 4 101890393 nonsense probably null
R0621:C130073F10Rik UTSW 4 101890795 missense probably damaging 1.00
R1368:C130073F10Rik UTSW 4 101890756 missense possibly damaging 0.78
R1471:C130073F10Rik UTSW 4 101890338 missense probably benign 0.01
R4732:C130073F10Rik UTSW 4 101890710 missense probably benign 0.03
R4733:C130073F10Rik UTSW 4 101890710 missense probably benign 0.03
R5372:C130073F10Rik UTSW 4 101890487 missense probably damaging 1.00
R5777:C130073F10Rik UTSW 4 101890749 missense possibly damaging 0.49
R6510:C130073F10Rik UTSW 4 101890285 missense probably benign 0.01
R6888:C130073F10Rik UTSW 4 101890256 missense probably benign 0.12
R7229:C130073F10Rik UTSW 4 101890242 missense probably benign 0.00
R8186:C130073F10Rik UTSW 4 101890834 nonsense probably null
R8353:C130073F10Rik UTSW 4 101890684 splice site probably null
R8857:C130073F10Rik UTSW 4 101890358 missense possibly damaging 0.52
R9559:C130073F10Rik UTSW 4 101890749 missense possibly damaging 0.49
R9590:C130073F10Rik UTSW 4 101890421 missense probably benign 0.41
Posted On 2015-12-18