Incidental Mutation 'IGL01526:4933430I17Rik'
ID89556
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4933430I17Rik
Ensembl Gene ENSMUSG00000058046
Gene NameRIKEN cDNA 4933430I17 gene
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01526
Quality Score
Status
Chromosome4
Chromosomal Location62525369-62547993 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 62532621 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 107 (R107L)
Ref Sequence ENSEMBL: ENSMUSP00000050465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062145]
Predicted Effect possibly damaging
Transcript: ENSMUST00000062145
AA Change: R107L

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000050465
Gene: ENSMUSG00000058046
AA Change: R107L

DomainStartEndE-ValueType
Pfam:DUF4647 22 481 7.3e-182 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500002C15Rik G T 4: 155,734,171 probably benign Het
9130204L05Rik T A 3: 91,088,305 probably benign Het
Acvr1 A T 2: 58,458,985 D388E probably benign Het
Art3 T C 5: 92,414,340 S354P probably damaging Het
Bpnt1 C A 1: 185,345,394 S102* probably null Het
C530008M17Rik T A 5: 76,857,631 M613K unknown Het
Ces1a G T 8: 93,045,098 P24T probably damaging Het
Cfap65 A T 1: 74,911,078 S1171T probably damaging Het
Csn2 T C 5: 87,694,979 H47R possibly damaging Het
Gm14496 T A 2: 181,995,665 D177E probably benign Het
Hmbs A G 9: 44,339,548 V126A possibly damaging Het
Ica1l A G 1: 60,015,757 M105T probably damaging Het
Morc2a G A 11: 3,650,428 E17K probably benign Het
Mroh8 T C 2: 157,238,312 probably benign Het
Mroh9 G T 1: 163,055,603 L436I probably damaging Het
Nup54 T C 5: 92,417,475 D461G probably benign Het
Olfr1123 A T 2: 87,418,975 D309V probably damaging Het
Olfr315 A G 11: 58,778,297 T57A probably benign Het
Pcid2 G A 8: 13,085,319 probably benign Het
Ppp1r3b G T 8: 35,384,718 R237L probably benign Het
Prdm11 A G 2: 93,012,757 V119A probably damaging Het
Serpina5 T A 12: 104,101,890 V70E probably damaging Het
Skap2 C T 6: 51,907,914 D249N probably benign Het
Slc22a29 A T 19: 8,207,178 probably benign Het
Slc4a1ap C A 5: 31,528,227 T283K possibly damaging Het
Slc6a21 T G 7: 45,287,796 I575S probably damaging Het
Smpd1 T G 7: 105,554,775 W82G probably benign Het
Snx14 T A 9: 88,381,500 M897L probably damaging Het
Tjp1 A G 7: 65,322,658 V586A probably damaging Het
Tmc8 T C 11: 117,792,084 probably benign Het
Trim34a A G 7: 104,260,499 Y298C probably damaging Het
Ube3c T C 5: 29,667,962 V1000A probably damaging Het
Other mutations in 4933430I17Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00309:4933430I17Rik APN 4 62532666 splice site probably benign
IGL00326:4933430I17Rik APN 4 62543744 splice site probably null
IGL02152:4933430I17Rik APN 4 62542754 missense possibly damaging 0.93
IGL03153:4933430I17Rik APN 4 62547326 missense possibly damaging 0.85
R0281:4933430I17Rik UTSW 4 62546067 nonsense probably null
R0436:4933430I17Rik UTSW 4 62543445 splice site probably benign
R1459:4933430I17Rik UTSW 4 62532341 missense probably damaging 0.99
R1807:4933430I17Rik UTSW 4 62542756 nonsense probably null
R1930:4933430I17Rik UTSW 4 62532282 missense possibly damaging 0.83
R1958:4933430I17Rik UTSW 4 62538909 missense probably benign 0.09
R2118:4933430I17Rik UTSW 4 62538872 missense possibly damaging 0.93
R2119:4933430I17Rik UTSW 4 62538872 missense possibly damaging 0.93
R2124:4933430I17Rik UTSW 4 62538872 missense possibly damaging 0.93
R4323:4933430I17Rik UTSW 4 62547311 missense probably damaging 0.98
R4592:4933430I17Rik UTSW 4 62538927 missense possibly damaging 0.93
R5708:4933430I17Rik UTSW 4 62525869 missense probably benign 0.01
R6576:4933430I17Rik UTSW 4 62532605 missense possibly damaging 0.71
R7506:4933430I17Rik UTSW 4 62532261 missense possibly damaging 0.51
R7953:4933430I17Rik UTSW 4 62532659 missense probably null 0.71
R8329:4933430I17Rik UTSW 4 62543741 critical splice donor site probably null
R8348:4933430I17Rik UTSW 4 62542785 critical splice donor site probably null
Posted On2013-12-03