Incidental Mutation 'R3885:B930094E09Rik'
ID308736
Institutional Source Beutler Lab
Gene Symbol B930094E09Rik
Ensembl Gene ENSMUSG00000092124
Gene NameRIKEN cDNA B930094E09 gene
Synonyms
MMRRC Submission 040905-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.103) question?
Stock #R3885 (G1)
Quality Score225
Status Validated
Chromosome18
Chromosomal Location31609512-31610751 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 31609689 bp
ZygosityHeterozygous
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]
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: 28,733,885 V161I possibly damaging Het
Ank3 A T 10: 69,899,036 I792F probably damaging Het
Boc T C 16: 44,487,613 probably benign Het
Bptf G A 11: 107,074,513 T1170M probably damaging Het
Ccdc85a T A 11: 28,576,677 E310D probably benign Het
Cfap221 A G 1: 119,954,146 probably null Het
Dmxl1 T A 18: 49,878,259 M1161K probably damaging Het
Eif2ak1 A T 5: 143,884,661 Q265L probably benign Het
Eif2s1 T A 12: 78,881,225 I225N probably damaging Het
Ephb2 C T 4: 136,771,034 G245S probably damaging Het
Exoc4 T C 6: 33,266,131 probably null Het
Foxd2 T C 4: 114,908,286 H179R unknown Het
Gck T C 11: 5,910,318 Y108C probably damaging Het
Gjc3 T A 5: 137,957,843 N60I possibly damaging Het
Gm5145 A T 17: 20,571,010 T217S probably benign Het
Gpc5 T C 14: 115,370,060 M358T probably benign Het
Gpr150 T C 13: 76,056,538 Q96R probably damaging Het
Hist1h2ae G T 13: 23,570,879 T77K possibly damaging Het
Hist1h2an A G 13: 21,786,869 L117P probably damaging Het
Itga2 A T 13: 114,869,299 H448Q probably benign Het
Lcor T A 19: 41,558,356 S126R probably damaging Het
Lrch2 C G X: 147,473,007 A437P probably damaging Het
Lrriq1 T C 10: 103,216,106 I262V probably damaging Het
Mgst3 G T 1: 167,372,562 Q135K probably benign Het
Nrxn1 T A 17: 90,623,471 T766S probably damaging Het
Olfr736 A T 14: 50,392,869 I38F probably benign Het
Ovch2 A G 7: 107,796,568 I81T probably damaging Het
Ptpro T A 6: 137,443,594 V1007D probably damaging Het
Rictor A T 15: 6,759,610 N236Y probably damaging Het
Rin2 C T 2: 145,860,446 T354I probably benign Het
Rreb1 G T 13: 37,893,965 R51L probably damaging Het
Senp7 A G 16: 56,186,079 E922G probably damaging Het
Slc15a2 A G 16: 36,782,304 F65S probably damaging Het
Slitrk5 T A 14: 111,679,797 C284* probably null Het
Steap4 G T 5: 7,980,494 R450L probably damaging Het
Usp40 A T 1: 87,967,269 L843Q probably damaging Het
Vmn2r97 C T 17: 18,928,334 L164F possibly damaging Het
Wiz G T 17: 32,357,038 A798E possibly damaging Het
Other mutations in B930094E09Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3888:B930094E09Rik UTSW 18 31609689 missense unknown
R3889:B930094E09Rik UTSW 18 31609689 missense unknown
R3893:B930094E09Rik UTSW 18 31609689 missense unknown
R6179:B930094E09Rik UTSW 18 31609858 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 On2015-04-17