Incidental Mutation 'IGL00423:4930452B06Rik'
ID5908
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930452B06Rik
Ensembl Gene ENSMUSG00000021747
Gene NameRIKEN cDNA 4930452B06 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.080) question?
Stock #IGL00423
Quality Score
Status
Chromosome14
Chromosomal Location8431192-8666240 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 8473370 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 600 (P600S)
Ref Sequence ENSEMBL: ENSMUSP00000100061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102996]
Predicted Effect possibly damaging
Transcript: ENSMUST00000102996
AA Change: P600S

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000100061
Gene: ENSMUSG00000021747
AA Change: P600S

DomainStartEndE-ValueType
Pfam:DUF667 1 188 1.7e-43 PFAM
low complexity region 344 358 N/A INTRINSIC
low complexity region 506 519 N/A INTRINSIC
low complexity region 568 578 N/A INTRINSIC
low complexity region 613 627 N/A INTRINSIC
low complexity region 639 650 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A G 7: 79,097,824 E781G probably benign Het
Acp7 T C 7: 28,614,697 T358A possibly damaging Het
Adamtsl2 C A 2: 27,085,088 T199K probably damaging Het
Ap4e1 T A 2: 127,028,289 S179T probably damaging Het
BC048671 A G 6: 90,303,218 T39A probably benign Het
Cnr1 G A 4: 33,944,116 S168N probably damaging Het
Cp T C 3: 19,985,662 V881A possibly damaging Het
Cyp4x1 T C 4: 115,121,948 T151A probably benign Het
Drd2 T C 9: 49,395,758 I48T probably damaging Het
Gemin5 A T 11: 58,163,817 I253N probably damaging Het
Herc3 T A 6: 58,868,715 I407K probably damaging Het
Ighmbp2 G T 19: 3,268,704 H457Q probably benign Het
Mboat1 A G 13: 30,195,793 probably benign Het
Myh2 T C 11: 67,197,345 V1929A probably benign Het
Nucb2 T A 7: 116,521,831 probably benign Het
Pcsk5 T C 19: 17,642,559 N383S probably benign Het
Pde1a A G 2: 79,865,670 L443P probably damaging Het
Prph2 A T 17: 46,919,778 N199I probably damaging Het
Rab27b A G 18: 69,996,067 probably null Het
Ranbp3 G A 17: 56,709,238 D336N probably damaging Het
Rangap1 T C 15: 81,721,993 D49G probably benign Het
Rasa3 G A 8: 13,595,410 probably benign Het
Serpina6 T A 12: 103,651,903 N217I probably damaging Het
Sorbs2 A G 8: 45,799,706 probably null Het
Spire1 A G 18: 67,529,015 V116A probably damaging Het
Tdrd1 T C 19: 56,851,464 V652A possibly damaging Het
Tmprss11g T C 5: 86,492,191 E193G probably benign Het
Zfp451 A T 1: 33,777,579 V213D probably benign Het
Other mutations in 4930452B06Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02010:4930452B06Rik APN 14 8578384 missense possibly damaging 0.68
IGL02385:4930452B06Rik APN 14 8510920 missense possibly damaging 0.59
IGL02431:4930452B06Rik APN 14 8659424 missense probably damaging 1.00
IGL02723:4930452B06Rik APN 14 8516507 missense probably benign 0.02
IGL02865:4930452B06Rik APN 14 8517940 missense probably benign 0.00
IGL03030:4930452B06Rik APN 14 8511113 missense probably damaging 1.00
IGL03204:4930452B06Rik APN 14 8644436 missense possibly damaging 0.68
IGL03014:4930452B06Rik UTSW 14 8431608 makesense probably null
R0197:4930452B06Rik UTSW 14 8518695 missense probably damaging 1.00
R0265:4930452B06Rik UTSW 14 8431667 missense probably damaging 1.00
R0513:4930452B06Rik UTSW 14 8536609 missense probably damaging 1.00
R0647:4930452B06Rik UTSW 14 8536655 missense possibly damaging 0.94
R1168:4930452B06Rik UTSW 14 8442939 missense probably benign 0.22
R1610:4930452B06Rik UTSW 14 8511110 missense probably benign 0.00
R1625:4930452B06Rik UTSW 14 8431668 missense probably damaging 1.00
R2010:4930452B06Rik UTSW 14 8511021 missense probably damaging 1.00
R2084:4930452B06Rik UTSW 14 8558171 missense probably damaging 1.00
R2174:4930452B06Rik UTSW 14 8558109 missense probably benign 0.02
R3802:4930452B06Rik UTSW 14 8510931 missense probably benign 0.00
R4244:4930452B06Rik UTSW 14 8482521 missense probably benign 0.00
R4471:4930452B06Rik UTSW 14 8536571 missense probably damaging 1.00
R4516:4930452B06Rik UTSW 14 8536609 missense probably damaging 1.00
R4824:4930452B06Rik UTSW 14 8665997 start codon destroyed probably null 0.93
R4884:4930452B06Rik UTSW 14 8578394 missense probably damaging 0.97
R4975:4930452B06Rik UTSW 14 8518736 missense probably benign 0.00
R5455:4930452B06Rik UTSW 14 8536516 critical splice donor site probably null
R6280:4930452B06Rik UTSW 14 8473414 critical splice acceptor site probably null
R6438:4930452B06Rik UTSW 14 8431701 missense probably damaging 0.98
R6639:4930452B06Rik UTSW 14 8536530 missense probably benign 0.12
R7101:4930452B06Rik UTSW 14 8511171 missense possibly damaging 0.75
R7456:4930452B06Rik UTSW 14 8442933 nonsense probably null
R8266:4930452B06Rik UTSW 14 8482599 nonsense probably null
Z1177:4930452B06Rik UTSW 14 8517953 nonsense probably null
Posted On2012-04-20