Incidental Mutation 'IGL03030:4930452B06Rik'
ID408413
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: 0.070) question?
Stock #IGL03030
Quality Score
Status
Chromosome14
Chromosomal Location8431192-8666240 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 8511113 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 434 (S434P)
Ref Sequence ENSEMBL: ENSMUSP00000100061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102996]
Predicted Effect probably damaging
Transcript: ENSMUST00000102996
AA Change: S434P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100061
Gene: ENSMUSG00000021747
AA Change: S434P

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225744
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008L16Rik A G 12: 55,304,644 D246G probably damaging Het
4931406B18Rik A G 7: 43,495,633 V367A possibly damaging Het
Abcb5 A T 12: 118,940,369 S200R possibly damaging Het
Adam29 T C 8: 55,873,065 D118G probably damaging Het
Adh4 A G 3: 138,429,145 D360G probably benign Het
Ankle2 A G 5: 110,251,610 Q611R possibly damaging Het
Ankra2 C T 13: 98,273,373 probably benign Het
Ap1g2 T A 14: 55,106,047 I28F probably damaging Het
Baz2a C T 10: 128,125,146 T1608I possibly damaging Het
C530008M17Rik A G 5: 76,857,616 D608G unknown Het
Cacnb4 T C 2: 52,474,882 D123G probably damaging Het
Cage1 G A 13: 38,028,147 T51M probably benign Het
Ccdc63 A G 5: 122,122,813 V216A probably benign Het
Ccnd2 A G 6: 127,148,878 V65A probably damaging Het
Chd3 T A 11: 69,354,404 T1163S possibly damaging Het
Cmbl A G 15: 31,589,677 probably benign Het
Cobl G T 11: 12,254,241 N813K possibly damaging Het
Cog5 G A 12: 31,790,922 V249M probably damaging Het
Cps1 A G 1: 67,142,921 N98S probably damaging Het
D630045J12Rik A T 6: 38,149,713 I1454N probably damaging Het
Elmo2 A G 2: 165,294,317 V603A possibly damaging Het
F12 A G 13: 55,421,519 probably benign Het
Ficd G A 5: 113,736,929 V20I probably benign Het
Gatad2b G T 3: 90,341,937 G94V probably benign Het
Gm4845 G A 1: 141,256,665 noncoding transcript Het
Hrnr G A 3: 93,320,601 V9I possibly damaging Het
Kifc3 A G 8: 95,102,412 S584P probably damaging Het
Klk1b24 C A 7: 44,191,366 Q73K probably benign Het
Lrp10 C A 14: 54,469,162 N518K possibly damaging Het
Lsr A G 7: 30,959,281 V247A possibly damaging Het
Mfsd6 A T 1: 52,709,703 M1K probably null Het
Mprip T A 11: 59,741,115 probably null Het
Myo3b G T 2: 70,426,816 probably benign Het
Olfr1019 T C 2: 85,841,072 T240A probably damaging Het
Olfr123 T A 17: 37,796,271 Y276N probably damaging Het
Olfr1463 C T 19: 13,235,054 S268L probably damaging Het
Olfr32 A T 2: 90,138,662 I159N possibly damaging Het
Olfr365 T C 2: 37,201,871 V210A probably benign Het
Oprd1 A G 4: 132,117,385 F104S possibly damaging Het
Palb2 A G 7: 122,113,256 V591A probably damaging Het
Pcdhb18 A T 18: 37,490,733 D372V probably damaging Het
Phc3 A G 3: 30,936,853 V405A probably damaging Het
Phf20l1 A T 15: 66,641,947 probably benign Het
Pik3ip1 A G 11: 3,333,259 K57E possibly damaging Het
Pkhd1l1 G A 15: 44,591,976 M4044I probably benign Het
Pkhd1l1 T C 15: 44,596,902 V4169A probably benign Het
Pklr A T 3: 89,142,656 I313F probably damaging Het
Plxna4 T A 6: 32,202,225 T952S probably benign Het
Pop4 A T 7: 38,263,306 I178N probably damaging Het
Prss40 A C 1: 34,558,101 V122G probably damaging Het
Rapgef2 C A 3: 79,074,307 probably null Het
Rbm19 A G 5: 120,131,246 D538G probably damaging Het
Rnf44 G A 13: 54,681,990 R312* probably null Het
Rock1 T C 18: 10,070,215 probably benign Het
Rrp1b A G 17: 32,056,901 E474G probably damaging Het
Ryr2 T A 13: 11,684,479 I2959F probably damaging Het
Sidt2 A G 9: 45,939,505 S801P probably damaging Het
Skint6 T C 4: 113,012,956 I602V probably benign Het
Slc6a19 C A 13: 73,700,471 V55L probably damaging Het
Smarca4 C T 9: 21,635,836 T219I probably benign Het
Trappc11 C A 8: 47,513,929 V440F probably damaging Het
Vmn1r236 G A 17: 21,286,846 W75* probably null Het
Vmn2r52 A G 7: 10,158,872 F780S probably benign Het
Vmn2r82 G T 10: 79,381,315 A494S possibly damaging Het
Vwa3b A T 1: 37,044,968 K74M probably damaging Het
Wrn T A 8: 33,248,961 I1037F possibly damaging Het
Zfp13 T C 17: 23,580,845 T82A probably benign Het
Zfp82 T C 7: 30,057,465 E64G probably benign Het
Other mutations in 4930452B06Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00423:4930452B06Rik APN 14 8473370 missense possibly damaging 0.57
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
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
Z1177:4930452B06Rik UTSW 14 8517953 nonsense probably null
Posted On2016-08-02