Incidental Mutation 'R5850:4930553M12Rik'
ID 454610
Institutional Source Beutler Lab
Gene Symbol 4930553M12Rik
Ensembl Gene ENSMUSG00000054351
Gene Name RIKEN cDNA 4930553M12 gene
Synonyms
MMRRC Submission 043226-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R5850 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 88785470-88786617 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88786596 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 7 (I7M)
Ref Sequence ENSEMBL: ENSMUSP00000052657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057837]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000057837
AA Change: I7M
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Abhd14a A C 9: 106,317,548 (GRCm39) L225R probably damaging Het
Apbb1 A G 7: 105,216,790 (GRCm39) S39P probably damaging Het
Apc T C 18: 34,451,116 (GRCm39) S2637P possibly damaging Het
Apold1 T C 6: 134,961,058 (GRCm39) F171L probably damaging Het
Ascc3 T C 10: 50,587,049 (GRCm39) M967T probably damaging Het
Atf7ip T C 6: 136,543,785 (GRCm39) probably null Het
Bcl2l15 T A 3: 103,743,432 (GRCm39) V111D possibly damaging Het
Bsn A T 9: 107,992,149 (GRCm39) M1201K probably damaging Het
Ccdc141 T A 2: 76,859,747 (GRCm39) N965Y probably damaging Het
Cnn3 T C 3: 121,245,577 (GRCm39) Y98H probably damaging Het
Cnot1 G A 8: 96,460,775 (GRCm39) R117* probably null Het
Dlgap1 G A 17: 71,094,087 (GRCm39) V803M probably damaging Het
Drd3 A C 16: 43,638,695 (GRCm39) M299L probably benign Het
Ergic2 C A 6: 148,084,605 (GRCm39) M34I possibly damaging Het
Ext2 A T 2: 93,644,004 (GRCm39) D92E possibly damaging Het
Fmnl1 A G 11: 103,086,111 (GRCm39) probably benign Het
Ganab C T 19: 8,889,071 (GRCm39) R591W probably damaging Het
Kdsr A T 1: 106,683,172 (GRCm39) probably null Het
Macf1 T C 4: 123,401,099 (GRCm39) E813G probably damaging Het
Nlrc5 A G 8: 95,247,675 (GRCm39) T1621A probably benign Het
Nmnat1 G A 4: 149,554,124 (GRCm39) Q139* probably null Het
Os9 TTCCTCCTCCTCCTCCTCCTC TTCCTCCTCCTCCTCCTC 10: 126,934,348 (GRCm39) probably benign Het
Oxa1l T G 14: 54,605,121 (GRCm39) V11G possibly damaging Het
Padi1 A G 4: 140,542,141 (GRCm39) Y594H probably benign Het
Polr1a T A 6: 71,903,667 (GRCm39) F327I probably benign Het
Prf1 G T 10: 61,135,972 (GRCm39) A83S probably benign Het
Ptgs2 A G 1: 149,981,127 (GRCm39) E470G probably benign Het
Rictor G A 15: 6,823,487 (GRCm39) E1555K probably benign Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Slc19a2 A G 1: 164,091,025 (GRCm39) I278V probably benign Het
Smco1 A T 16: 32,092,674 (GRCm39) N115I probably damaging Het
Smyd3 G A 1: 178,871,420 (GRCm39) L320F probably damaging Het
Svil T A 18: 5,098,900 (GRCm39) probably null Het
Syne2 A G 12: 76,144,749 (GRCm39) D1566G probably damaging Het
Tpm2 T C 4: 43,523,296 (GRCm39) D20G probably damaging Het
Ubap1l A G 9: 65,281,045 (GRCm39) Y241C probably damaging Het
Usp15 A G 10: 122,960,417 (GRCm39) probably null Het
Wdr45b A G 11: 121,221,923 (GRCm39) probably benign Het
Zc3h14 A G 12: 98,745,414 (GRCm39) I468V probably damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Other mutations in 4930553M12Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:4930553M12Rik APN 4 88,786,310 (GRCm39) nonsense probably null
R0194:4930553M12Rik UTSW 4 88,786,480 (GRCm39) missense unknown
R2143:4930553M12Rik UTSW 4 88,786,412 (GRCm39) missense unknown
R2143:4930553M12Rik UTSW 4 88,786,411 (GRCm39) missense unknown
R2144:4930553M12Rik UTSW 4 88,786,412 (GRCm39) missense unknown
R2144:4930553M12Rik UTSW 4 88,786,411 (GRCm39) missense unknown
R5135:4930553M12Rik UTSW 4 88,786,508 (GRCm39) missense unknown
R5822:4930553M12Rik UTSW 4 88,786,596 (GRCm39) missense unknown
R5848:4930553M12Rik UTSW 4 88,786,596 (GRCm39) missense unknown
R5849:4930553M12Rik UTSW 4 88,786,596 (GRCm39) missense unknown
R5854:4930553M12Rik UTSW 4 88,786,596 (GRCm39) missense unknown
R5856:4930553M12Rik UTSW 4 88,786,596 (GRCm39) missense unknown
R6128:4930553M12Rik UTSW 4 88,786,596 (GRCm39) missense unknown
R6130:4930553M12Rik UTSW 4 88,786,596 (GRCm39) missense unknown
R7054:4930553M12Rik UTSW 4 88,786,486 (GRCm39) missense unknown
R7292:4930553M12Rik UTSW 4 88,786,568 (GRCm39) missense unknown
R7754:4930553M12Rik UTSW 4 88,786,496 (GRCm39) missense unknown
R7844:4930553M12Rik UTSW 4 88,786,423 (GRCm39) missense unknown
R7980:4930553M12Rik UTSW 4 88,786,315 (GRCm39) missense unknown
R9417:4930553M12Rik UTSW 4 88,786,202 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CAGCTTTCTCGCCCAAAGAATC -3'
(R):5'- AAAGAATATTCTGGCACTGGGTC -3'

Sequencing Primer
(F):5'- AAAGAATCCGCTTATTCCCCTG -3'
(R):5'- CCTTTTGGAGCCAGCCAAC -3'
Posted On 2017-02-10