Incidental Mutation 'R5387:0610009B22Rik'
ID 425348
Institutional Source Beutler Lab
Gene Symbol 0610009B22Rik
Ensembl Gene ENSMUSG00000007777
Gene Name RIKEN cDNA 0610009B22 gene
MMRRC Submission 042959-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5387 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 51685386-51688874 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 51685974 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 32 (D32E)
Ref Sequence ENSEMBL: ENSMUSP00000104726 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007921] [ENSMUST00000109098]
AlphaFold Q8R3W2
Predicted Effect probably benign
Transcript: ENSMUST00000007921
AA Change: D32E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000007921
Gene: ENSMUSG00000007777
AA Change: D32E

Pfam:Sedlin_N 9 136 7.3e-52 PFAM
Pfam:Sybindin 46 137 1.5e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109098
AA Change: D32E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104726
Gene: ENSMUSG00000007777
AA Change: D32E

Pfam:Sedlin_N 9 136 1e-50 PFAM
Pfam:Sybindin 46 137 1.4e-11 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 99% (80/81)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T A 13: 77,259,973 (GRCm38) S140T probably benign Het
Ahnak T C 19: 9,003,691 (GRCm38) S780P probably damaging Het
Ankhd1 C A 18: 36,634,644 (GRCm38) H1205N probably damaging Het
Ano1 T C 7: 144,648,619 (GRCm38) K139R probably benign Het
Anp32b T G 4: 46,468,573 (GRCm38) C114W probably damaging Het
Ascl1 C T 10: 87,492,689 (GRCm38) A134T probably damaging Het
Atl2 C T 17: 79,852,800 (GRCm38) E453K probably benign Het
Aup1 C T 6: 83,055,024 (GRCm38) A84V probably damaging Het
Btbd7 A T 12: 102,837,785 (GRCm38) M332K probably damaging Het
Cacna1d A G 14: 30,100,751 (GRCm38) V1107A probably damaging Het
Cd33 G A 7: 43,532,053 (GRCm38) Q114* probably null Het
Col4a4 C T 1: 82,493,591 (GRCm38) G681E unknown Het
Defb22 C A 2: 152,485,906 (GRCm38) A120S unknown Het
Dnah7b A G 1: 46,188,659 (GRCm38) I1347M probably damaging Het
Efcab5 A G 11: 77,134,842 (GRCm38) I549T possibly damaging Het
Esp15 T A 17: 39,644,577 (GRCm38) probably null Het
Fbxo7 A G 10: 86,024,654 (GRCm38) T42A probably benign Het
Filip1 A G 9: 79,818,274 (GRCm38) I1021T probably benign Het
Gad1 C A 2: 70,563,851 (GRCm38) S7* probably null Het
Gm281 C A 14: 13,914,438 (GRCm38) M1I probably null Het
H2-Q7 C T 17: 35,439,542 (GRCm38) T52M probably damaging Het
H2-T3 C T 17: 36,186,702 (GRCm38) G28R probably benign Het
Hist1h2ad T A 13: 23,574,667 (GRCm38) probably null Het
Idh2 TCCCAGG T 7: 80,098,331 (GRCm38) probably benign Het
Ift81 A G 5: 122,555,535 (GRCm38) Y604H probably damaging Het
Igsf11 A G 16: 39,022,423 (GRCm38) Y154C probably damaging Het
Kif26b G T 1: 178,914,876 (GRCm38) A846S probably benign Het
Lnx2 G A 5: 147,028,154 (GRCm38) P420S probably benign Het
Lrit2 A G 14: 37,072,259 (GRCm38) T427A probably damaging Het
Lrrc43 G T 5: 123,499,671 (GRCm38) probably null Het
Mug1 T C 6: 121,884,394 (GRCm38) Y1325H probably damaging Het
Naglu A T 11: 101,076,724 (GRCm38) Y500F probably damaging Het
Npy4r A G 14: 34,146,983 (GRCm38) M116T probably benign Het
Nrd1 A G 4: 109,039,762 (GRCm38) Y526C probably damaging Het
Nrp2 T C 1: 62,762,813 (GRCm38) S472P probably benign Het
Olfr102 T A 17: 37,314,292 (GRCm38) T31S probably benign Het
Olfr361 T C 2: 37,085,719 (GRCm38) T10A possibly damaging Het
Otogl T A 10: 107,780,933 (GRCm38) T1828S probably benign Het
Pank2 C T 2: 131,274,262 (GRCm38) T200I probably benign Het
Pbrm1 A G 14: 31,082,610 (GRCm38) Y946C probably damaging Het
Pde12 A T 14: 26,666,453 (GRCm38) S437T probably benign Het
Pikfyve A G 1: 65,265,268 (GRCm38) K1710E possibly damaging Het
Plcd3 A G 11: 103,078,455 (GRCm38) S229P probably damaging Het
Polr3a T C 14: 24,454,941 (GRCm38) I1084V possibly damaging Het
Prkaa2 C A 4: 105,040,177 (GRCm38) D280Y probably damaging Het
Ptprg T A 14: 12,153,873 (GRCm38) S531R probably damaging Het
R3hdm2 T C 10: 127,485,434 (GRCm38) S620P probably damaging Het
Rab33b A G 3: 51,493,455 (GRCm38) T117A probably damaging Het
Rasal2 T C 1: 157,157,765 (GRCm38) D804G possibly damaging Het
Rbp3 A G 14: 33,956,413 (GRCm38) T773A possibly damaging Het
Rrnad1 A T 3: 87,930,011 (GRCm38) probably benign Het
Rspry1 A G 8: 94,638,286 (GRCm38) T185A possibly damaging Het
Sec61a2 G T 2: 5,882,545 (GRCm38) probably benign Het
Setx C T 2: 29,147,594 (GRCm38) R1364C probably benign Het
Shtn1 G T 19: 59,038,369 (GRCm38) L97M probably damaging Het
Slc35f1 T C 10: 53,108,164 (GRCm38) L340P probably damaging Het
Slc45a1 T A 4: 150,643,909 (GRCm38) probably benign Het
Slmap T C 14: 26,459,933 (GRCm38) E386G probably benign Het
Smc2 C T 4: 52,475,096 (GRCm38) A924V probably benign Het
Sp110 C G 1: 85,589,118 (GRCm38) E219D probably damaging Het
Tecta G A 9: 42,375,063 (GRCm38) L766F probably damaging Het
Tle3 C T 9: 61,407,489 (GRCm38) probably null Het
Top3a A G 11: 60,762,490 (GRCm38) F53L probably damaging Het
Trem1 T C 17: 48,241,513 (GRCm38) I26T possibly damaging Het
Ttc7b G T 12: 100,446,963 (GRCm38) Q199K possibly damaging Het
Ubap2l T C 3: 90,006,596 (GRCm38) Y975C probably benign Het
Ubxn11 C A 4: 134,123,426 (GRCm38) D196E probably damaging Het
Unc80 A G 1: 66,530,021 (GRCm38) H945R possibly damaging Het
Usp15 A G 10: 123,131,286 (GRCm38) I405T probably damaging Het
Uty C T Y: 1,189,339 (GRCm38) E138K probably damaging Het
Wapl A G 14: 34,677,295 (GRCm38) E107G probably benign Het
Wbp1l T C 19: 46,644,457 (GRCm38) probably null Het
Zfp184 T G 13: 21,949,640 (GRCm38) probably benign Het
Zfp36 A C 7: 28,377,868 (GRCm38) L205R possibly damaging Het
Other mutations in 0610009B22Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01321:0610009B22Rik APN 11 51,685,843 (GRCm38) missense probably damaging 0.99
R1657:0610009B22Rik UTSW 11 51,685,678 (GRCm38) missense probably benign 0.00
R5157:0610009B22Rik UTSW 11 51,686,066 (GRCm38) missense probably benign
R5541:0610009B22Rik UTSW 11 51,685,969 (GRCm38) missense probably benign 0.02
R5649:0610009B22Rik UTSW 11 51,685,972 (GRCm38) missense probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-08-04