Incidental Mutation 'IGL01321:0610009B22Rik'
List [record 1 of 556668] next >> last >|
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 0610009B22Rik
Ensembl Gene ENSMUSG00000007777
Gene NameRIKEN cDNA 0610009B22 gene
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01321
Quality Score
Chromosomal Location51685386-51688874 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 51685843 bp
Amino Acid Change Valine to Aspartic acid at position 76 (V76D)
Ref Sequence ENSEMBL: ENSMUSP00000104726 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007921] [ENSMUST00000109098]
Predicted Effect probably damaging
Transcript: ENSMUST00000007921
AA Change: V76D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000007921
Gene: ENSMUSG00000007777
AA Change: V76D

Pfam:Sedlin_N 9 136 7.3e-52 PFAM
Pfam:Sybindin 46 137 1.5e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109098
AA Change: V76D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104726
Gene: ENSMUSG00000007777
AA Change: V76D

Pfam:Sedlin_N 9 136 1e-50 PFAM
Pfam:Sybindin 46 137 1.4e-11 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acnat2 A G 4: 49,380,269 S370P probably damaging Het
Adamts5 T C 16: 85,899,475 R265G probably benign Het
Cd2ap T C 17: 42,845,389 S86G possibly damaging Het
Cers3 A C 7: 66,786,003 probably benign Het
Dnaaf2 G T 12: 69,196,602 P562T probably damaging Het
Dnajc21 A C 15: 10,447,102 V520G probably benign Het
Dpcr1 A T 17: 35,636,866 N490K probably damaging Het
Dync1h1 A G 12: 110,625,607 probably benign Het
Extl3 T C 14: 65,066,762 N733D probably benign Het
Gm5499 T A 17: 87,078,500 noncoding transcript Het
Gstm6 T C 3: 107,941,063 Q180R probably benign Het
Hdlbp G A 1: 93,423,802 R460W probably damaging Het
Ift81 T C 5: 122,610,968 D40G probably damaging Het
Igsf3 T A 3: 101,427,022 probably benign Het
Kcnb2 A G 1: 15,312,923 T158A probably benign Het
Lrrc59 C T 11: 94,638,600 R167* probably null Het
Macf1 A G 4: 123,440,774 C4397R probably damaging Het
Morc1 T C 16: 48,582,462 S583P probably benign Het
Nipsnap2 T A 5: 129,757,141 *282R probably null Het
Olfr1160 A T 2: 88,006,245 C178S probably damaging Het
Olfr703 T C 7: 106,844,749 L46P probably damaging Het
Parp14 T A 16: 35,856,559 Q1013L probably benign Het
Pdzd8 A C 19: 59,301,529 S480A probably benign Het
Piezo1 A T 8: 122,487,600 S1609R probably damaging Het
Pkp4 G A 2: 59,350,627 probably null Het
Plpp2 A T 10: 79,527,493 V106D probably damaging Het
Rimbp2 T C 5: 128,786,752 Y724C probably benign Het
Rpgrip1l A T 8: 91,260,873 L852* probably null Het
Samd9l T A 6: 3,376,259 D334V probably benign Het
Sipa1l2 G A 8: 125,491,518 T360M probably damaging Het
Slc30a2 A T 4: 134,343,300 D5V probably damaging Het
Spata31 T C 13: 64,921,754 I572T probably benign Het
Tma16 G A 8: 66,476,860 L161F probably benign Het
Trim69 A T 2: 122,173,284 E238V possibly damaging Het
Zfhx4 A G 3: 5,242,328 T205A probably benign Het
Other mutations in 0610009B22Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1657:0610009B22Rik UTSW 11 51685678 missense probably benign 0.00
R5157:0610009B22Rik UTSW 11 51686066 missense probably benign
R5387:0610009B22Rik UTSW 11 51685974 missense probably benign
R5541:0610009B22Rik UTSW 11 51685969 missense probably benign 0.02
R5649:0610009B22Rik UTSW 11 51685972 missense probably benign
Posted On2013-10-07