Incidental Mutation 'R5856:4930553M12Rik'
ID454902
Institutional Source Beutler Lab
Gene Symbol 4930553M12Rik
Ensembl Gene ENSMUSG00000054351
Gene NameRIKEN cDNA 4930553M12 gene
Synonyms
MMRRC Submission 043230-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.076) question?
Stock #R5856 (G1)
Quality Score225
Status Not validated
Chromosome4
Chromosomal Location88867882-88868379 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 88868359 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Methionine at position 7 (I7M)
Ref Sequence ENSEMBL: ENSMUSP00000052657 (fasta)
Predicted Effect unknown
Transcript: ENSMUST00000057837
AA Change: I7M
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.0%
  • 20x: 90.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf5 A G 17: 43,446,120 T497A probably benign Het
Ano5 T C 7: 51,585,326 I669T probably benign Het
Arhgap11a A T 2: 113,833,771 N722K possibly damaging Het
Atm A T 9: 53,495,955 I1161K possibly damaging Het
Atp13a4 T C 16: 29,433,987 T714A possibly damaging Het
BC051665 T A 13: 60,784,500 M92L probably benign Het
Car3 G A 3: 14,871,641 V255M probably damaging Het
Cnot11 C A 1: 39,537,453 F179L probably benign Het
Dctn1 A G 6: 83,197,865 Y1013C probably damaging Het
Gm19965 A G 1: 116,821,849 D420G probably benign Het
Gm5444 A G 13: 4,771,684 noncoding transcript Het
Hydin A T 8: 110,541,842 D2946V probably damaging Het
Hyou1 C T 9: 44,381,344 R119C probably damaging Het
Ighm A T 12: 113,421,602 L246Q unknown Het
Itpr3 A G 17: 27,106,405 E1324G probably damaging Het
Loxl4 G T 19: 42,595,366 Q749K possibly damaging Het
Muc2 C A 7: 141,745,644 probably benign Het
Myh11 T C 16: 14,205,976 T1505A probably benign Het
Nsmce2 A G 15: 59,378,943 E21G probably damaging Het
Olfr1220 T A 2: 89,097,910 I6F probably benign Het
Olfr273 T A 4: 52,856,516 probably benign Het
Plaa A G 4: 94,583,487 I375T probably benign Het
Pou2f1 C T 1: 165,915,130 A65T probably benign Het
Rictor G A 15: 6,794,006 E1555K probably benign Het
Rxfp1 T A 3: 79,663,313 N271Y possibly damaging Het
Sema5b T G 16: 35,646,386 Y219* probably null Het
Slc35f3 G T 8: 126,321,080 R53L probably benign Het
Slc44a5 T C 3: 154,258,392 V465A possibly damaging Het
Slc9a5 A G 8: 105,357,165 I446V possibly damaging Het
Slf1 A T 13: 77,106,087 D204E possibly damaging Het
Sox5 T A 6: 144,209,362 T3S probably damaging Het
Srr G A 11: 74,913,012 R40C possibly damaging Het
Tas2r115 T A 6: 132,737,538 H150L possibly damaging Het
Tet2 A G 3: 133,486,640 S678P probably benign Het
Tmem11 T C 11: 60,864,858 K183E probably damaging Het
Upf1 T C 8: 70,334,762 probably null Het
Xpo6 A T 7: 126,149,502 probably benign Het
Zfp638 C T 6: 83,977,065 S1384L probably damaging Het
Zfp703 C T 8: 26,979,205 P299L probably damaging Het
Other mutations in 4930553M12Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:4930553M12Rik APN 4 88868073 nonsense probably null
R0194:4930553M12Rik UTSW 4 88868243 missense unknown
R2143:4930553M12Rik UTSW 4 88868174 missense unknown
R2143:4930553M12Rik UTSW 4 88868175 missense unknown
R2144:4930553M12Rik UTSW 4 88868174 missense unknown
R2144:4930553M12Rik UTSW 4 88868175 missense unknown
R5135:4930553M12Rik UTSW 4 88868271 missense unknown
R5822:4930553M12Rik UTSW 4 88868359 missense unknown
R5848:4930553M12Rik UTSW 4 88868359 missense unknown
R5849:4930553M12Rik UTSW 4 88868359 missense unknown
R5850:4930553M12Rik UTSW 4 88868359 missense unknown
R5854:4930553M12Rik UTSW 4 88868359 missense unknown
R6128:4930553M12Rik UTSW 4 88868359 missense unknown
R6130:4930553M12Rik UTSW 4 88868359 missense unknown
R7054:4930553M12Rik UTSW 4 88868249 missense unknown
R7292:4930553M12Rik UTSW 4 88868331 missense unknown
R7754:4930553M12Rik UTSW 4 88868259 missense unknown
R7844:4930553M12Rik UTSW 4 88868186 missense unknown
R7927:4930553M12Rik UTSW 4 88868186 missense unknown
Predicted Primers PCR Primer
(F):5'- GCTTTCTCGCCCAAAGAATC -3'
(R):5'- AGACAAAGAATATTCTGGCACTGG -3'

Sequencing Primer
(F):5'- AAAGAATCCGCTTATTCCCCTG -3'
(R):5'- CCTTTTGGAGCCAGCCAAC -3'
Posted On2017-02-10