Incidental Mutation 'IGL01574:9530077C05Rik'
ID91193
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 9530077C05Rik
Ensembl Gene ENSMUSG00000036411
Gene NameRIKEN cDNA 9530077C05 gene
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01574
Quality Score
Status
Chromosome9
Chromosomal Location22411513-22444681 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 22444130 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 487 (V487A)
Ref Sequence ENSEMBL: ENSMUSP00000062120 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034763] [ENSMUST00000058868] [ENSMUST00000215715] [ENSMUST00000216973]
Predicted Effect probably benign
Transcript: ENSMUST00000034763
SMART Domains Protein: ENSMUSP00000034763
Gene: ENSMUSG00000032239

DomainStartEndE-ValueType
low complexity region 19 28 N/A INTRINSIC
ZnF_C2HC 96 114 5.17e0 SMART
low complexity region 161 213 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000058868
AA Change: V487A

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000062120
Gene: ENSMUSG00000036411
AA Change: V487A

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: ENSMUST00000215715
Predicted Effect probably benign
Transcript: ENSMUST00000216973
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd26 T G 6: 118,539,698 T502P probably damaging Het
Apoa4 C A 9: 46,242,985 Q295K probably benign Het
Asxl3 T G 18: 22,523,564 C1544G probably benign Het
Ccl7 G A 11: 82,046,625 V62I probably damaging Het
Ceacam20 C A 7: 19,974,322 T284K possibly damaging Het
Ces4a A T 8: 105,145,227 probably benign Het
Col4a2 G T 8: 11,439,306 G1147V probably damaging Het
Gtf3c4 T C 2: 28,834,436 D428G possibly damaging Het
Itgb2 G A 10: 77,557,964 V413I possibly damaging Het
Itgb7 T G 15: 102,227,540 E20A possibly damaging Het
Kank2 C A 9: 21,794,604 G373W probably damaging Het
Kif1a T A 1: 93,082,340 I28F probably damaging Het
Klhdc7b T C 15: 89,387,369 V818A probably benign Het
Klhl20 T C 1: 161,093,726 Y53C probably damaging Het
Mroh1 A G 15: 76,432,288 N772S probably benign Het
Mtmr4 C T 11: 87,600,647 T146I probably benign Het
Nup210 C T 6: 91,040,564 V1152I probably benign Het
Pclo T A 5: 14,713,448 D3978E unknown Het
Pkd1l3 T C 8: 109,623,771 L416P probably benign Het
Pkn2 T C 3: 142,839,231 M161V possibly damaging Het
Plxnb2 T C 15: 89,162,683 probably null Het
Polr2e C A 10: 80,039,633 D3Y probably damaging Het
Prss27 A T 17: 24,038,371 probably benign Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Tmem30c T A 16: 57,276,742 I152F possibly damaging Het
Usp2 G A 9: 44,093,803 R378H probably damaging Het
Vmn2r106 A T 17: 20,268,310 I609N possibly damaging Het
Vmn2r51 T A 7: 10,102,454 E133D probably damaging Het
Zkscan3 A T 13: 21,394,091 probably benign Het
Other mutations in 9530077C05Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01152:9530077C05Rik APN 9 22435164 missense probably benign 0.00
IGL01666:9530077C05Rik APN 9 22431698 missense probably benign 0.08
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
Posted On2013-12-09