Incidental Mutation 'IGL01666:9530077C05Rik'
ID 103304
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 9530077C05Rik
Ensembl Gene ENSMUSG00000036411
Gene Name RIKEN cDNA 9530077C05 gene
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01666
Quality Score
Status
Chromosome 9
Chromosomal Location 22411513-22444681 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 22431698 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 163 (D163G)
Ref Sequence ENSEMBL: ENSMUSP00000149413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058868] [ENSMUST00000214436] [ENSMUST00000215715]
AlphaFold Q7TQE7
Predicted Effect probably benign
Transcript: ENSMUST00000058868
AA Change: D296G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000062120
Gene: ENSMUSG00000036411
AA Change: D296G

DomainStartEndE-ValueType
low complexity region 79 100 N/A INTRINSIC
DUF1704 202 511 1.28e-137 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213133
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213598
Predicted Effect probably benign
Transcript: ENSMUST00000214436
AA Change: D163G

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000215715
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik G A 7: 28,153,292 V1335M probably damaging Het
Adgrb3 C A 1: 25,460,751 A664S probably damaging Het
Ankrd61 T A 5: 143,891,136 L297F probably damaging Het
Chrnd A T 1: 87,198,736 S513C possibly damaging Het
Col24a1 G A 3: 145,344,686 V645M possibly damaging Het
Csn3 T C 5: 87,930,157 V174A unknown Het
D630039A03Rik C T 4: 57,910,570 V81I possibly damaging Het
Deptor G A 15: 55,149,379 R54Q probably damaging Het
Ell A G 8: 70,585,813 H400R probably benign Het
Itga2 A G 13: 114,837,091 probably null Het
Itpr3 A G 17: 27,117,178 I2293V probably benign Het
Mrps27 A G 13: 99,409,816 E241G probably damaging Het
Mut T C 17: 40,958,811 L687P probably damaging Het
Myh9 C T 15: 77,761,931 A1951T probably benign Het
Oca2 G A 7: 56,314,811 probably null Het
Olfr135 C T 17: 38,208,889 L215F probably benign Het
Olfr215 T A 6: 116,582,335 I204F possibly damaging Het
Ptgdr2 T C 19: 10,940,910 F264L probably benign Het
Ptpn23 T C 9: 110,386,545 T1384A possibly damaging Het
Rasgrf2 A T 13: 92,038,210 D170E probably damaging Het
Rnf20 C T 4: 49,654,486 Q848* probably null Het
Other mutations in 9530077C05Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01152:9530077C05Rik APN 9 22435164 missense probably benign 0.00
IGL01574:9530077C05Rik APN 9 22444130 missense possibly damaging 0.75
IGL02111:9530077C05Rik APN 9 22424179 missense probably benign
IGL02310:9530077C05Rik APN 9 22424428 missense probably benign 0.01
IGL02638:9530077C05Rik APN 9 22430479 nonsense probably null
LCD18:9530077C05Rik UTSW 9 22442083 intron probably benign
R1239:9530077C05Rik UTSW 9 22424699 intron probably benign
R1519:9530077C05Rik UTSW 9 22430375 missense probably benign 0.01
R2248:9530077C05Rik UTSW 9 22444114 missense probably benign 0.36
R2438:9530077C05Rik UTSW 9 22431683 missense probably damaging 0.99
R4838:9530077C05Rik UTSW 9 22424377 missense probably damaging 0.98
R5304:9530077C05Rik UTSW 9 22424232 missense probably benign 0.28
R5418:9530077C05Rik UTSW 9 22431770 missense probably damaging 1.00
R5460:9530077C05Rik UTSW 9 22439920 missense probably benign 0.01
R5652:9530077C05Rik UTSW 9 22424490 missense probably benign 0.00
R6008:9530077C05Rik UTSW 9 22424126 nonsense probably null
R8334:9530077C05Rik UTSW 9 22444118 missense probably benign 0.26
R9474:9530077C05Rik UTSW 9 22431719 missense probably damaging 0.99
R9640:9530077C05Rik UTSW 9 22439932 missense possibly damaging 0.62
Posted On 2014-01-21