Incidental Mutation 'R3885:B930094E09Rik'
ID 308736
Institutional Source Beutler Lab
Gene Symbol B930094E09Rik
Ensembl Gene ENSMUSG00000092124
Gene Name RIKEN cDNA B930094E09 gene
Synonyms
MMRRC Submission 040905-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R3885 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 31742565-31743804 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 31742742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 59 (S59N)
Ref Sequence ENSEMBL: ENSMUSP00000128772 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060396] [ENSMUST00000164667]
AlphaFold Q8C4T2
Predicted Effect silent
Transcript: ENSMUST00000060396
SMART Domains Protein: ENSMUSP00000053325
Gene: ENSMUSG00000024259

DomainStartEndE-ValueType
low complexity region 74 95 N/A INTRINSIC
transmembrane domain 268 290 N/A INTRINSIC
Pfam:Mito_carr 311 417 2.7e-12 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000164667
AA Change: S59N
SMART Domains Protein: ENSMUSP00000128772
Gene: ENSMUSG00000092124
AA Change: S59N

DomainStartEndE-ValueType
low complexity region 10 28 N/A INTRINSIC
low complexity region 43 64 N/A INTRINSIC
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 95% (40/42)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak8 G A 2: 28,623,897 (GRCm39) V161I possibly damaging Het
Ank3 A T 10: 69,734,866 (GRCm39) I792F probably damaging Het
Boc T C 16: 44,307,976 (GRCm39) probably benign Het
Bptf G A 11: 106,965,339 (GRCm39) T1170M probably damaging Het
Ccdc85a T A 11: 28,526,677 (GRCm39) E310D probably benign Het
Cfap221 A G 1: 119,881,876 (GRCm39) probably null Het
Dmxl1 T A 18: 50,011,326 (GRCm39) M1161K probably damaging Het
Eif2ak1 A T 5: 143,821,479 (GRCm39) Q265L probably benign Het
Eif2s1 T A 12: 78,927,999 (GRCm39) I225N probably damaging Het
Ephb2 C T 4: 136,498,345 (GRCm39) G245S probably damaging Het
Exoc4 T C 6: 33,243,066 (GRCm39) probably null Het
Foxd2 T C 4: 114,765,483 (GRCm39) H179R unknown Het
Gck T C 11: 5,860,318 (GRCm39) Y108C probably damaging Het
Gjc3 T A 5: 137,956,105 (GRCm39) N60I possibly damaging Het
Gm5145 A T 17: 20,791,272 (GRCm39) T217S probably benign Het
Gpc5 T C 14: 115,607,472 (GRCm39) M358T probably benign Het
Gpr150 T C 13: 76,204,657 (GRCm39) Q96R probably damaging Het
H2ac22 A G 13: 21,971,039 (GRCm39) L117P probably damaging Het
H2ac8 G T 13: 23,755,053 (GRCm39) T77K possibly damaging Het
Itga2 A T 13: 115,005,835 (GRCm39) H448Q probably benign Het
Lcor T A 19: 41,546,795 (GRCm39) S126R probably damaging Het
Lrch2 C G X: 146,256,003 (GRCm39) A437P probably damaging Het
Lrriq1 T C 10: 103,051,967 (GRCm39) I262V probably damaging Het
Mgst3 G T 1: 167,200,131 (GRCm39) Q135K probably benign Het
Nrxn1 T A 17: 90,930,899 (GRCm39) T766S probably damaging Het
Or11j4 A T 14: 50,630,326 (GRCm39) I38F probably benign Het
Ovch2 A G 7: 107,395,775 (GRCm39) I81T probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rictor A T 15: 6,789,091 (GRCm39) N236Y probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rreb1 G T 13: 38,077,941 (GRCm39) R51L probably damaging Het
Senp7 A G 16: 56,006,442 (GRCm39) E922G probably damaging Het
Slc15a2 A G 16: 36,602,666 (GRCm39) F65S probably damaging Het
Slitrk5 T A 14: 111,917,229 (GRCm39) C284* probably null Het
Steap4 G T 5: 8,030,494 (GRCm39) R450L probably damaging Het
Usp40 A T 1: 87,894,991 (GRCm39) L843Q probably damaging Het
Vmn2r97 C T 17: 19,148,596 (GRCm39) L164F possibly damaging Het
Wiz G T 17: 32,576,012 (GRCm39) A798E possibly damaging Het
Other mutations in B930094E09Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3888:B930094E09Rik UTSW 18 31,742,742 (GRCm39) missense unknown
R3889:B930094E09Rik UTSW 18 31,742,742 (GRCm39) missense unknown
R3893:B930094E09Rik UTSW 18 31,742,742 (GRCm39) missense unknown
R6179:B930094E09Rik UTSW 18 31,742,911 (GRCm39) utr 5 prime probably benign
Predicted Primers PCR Primer
(F):5'- TAGCGTGTGCAAGGACCAAG -3'
(R):5'- GACTTCCGGTTGTCAGTCTC -3'

Sequencing Primer
(F):5'- CAAGGACCAAGGCGGGC -3'
(R):5'- TTGTCAGTCTCCGGACGC -3'
Posted On 2015-04-17