Incidental Mutation 'IGL02024:4930415L06Rik'
ID184092
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930415L06Rik
Ensembl Gene ENSMUSG00000035387
Gene NameRIKEN cDNA 4930415L06 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.158) question?
Stock #IGL02024
Quality Score
Status
ChromosomeX
Chromosomal Location89930098-89932852 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 89931523 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 356 (T356I)
Ref Sequence ENSEMBL: ENSMUSP00000085471 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088146]
Predicted Effect probably benign
Transcript: ENSMUST00000088146
AA Change: T356I

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000085471
Gene: ENSMUSG00000035387
AA Change: T356I

DomainStartEndE-ValueType
SCOP:d1k5db_ 18 107 1e-22 SMART
Pfam:SMK-1 178 369 9e-72 PFAM
low complexity region 650 663 N/A INTRINSIC
low complexity region 692 707 N/A INTRINSIC
low complexity region 774 791 N/A INTRINSIC
low complexity region 793 806 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass G A 6: 23,113,706 H246Y probably damaging Het
Abat G A 16: 8,611,136 A322T probably damaging Het
Bcat1 A G 6: 145,032,838 V152A probably damaging Het
Btaf1 A G 19: 36,992,426 probably benign Het
Elavl2 T C 4: 91,253,539 T291A probably benign Het
Ezh1 G T 11: 101,199,340 H529Q probably damaging Het
Fcgbp G A 7: 28,106,374 C2026Y probably damaging Het
Fcgrt T A 7: 45,095,258 H258L probably damaging Het
Galnt6 C T 15: 100,703,493 D302N probably benign Het
Gldc T A 19: 30,100,827 R923S probably damaging Het
Hspg2 G T 4: 137,540,073 A2033S probably damaging Het
Htr2c T A X: 147,075,925 M77K probably damaging Het
Ifi208 A G 1: 173,683,290 Y337C probably damaging Het
Ints11 G T 4: 155,888,515 W554L probably damaging Het
Itgbl1 T A 14: 123,857,492 C186S probably damaging Het
Lipf A G 19: 33,976,595 Y362C probably damaging Het
Map2k7 T A 8: 4,247,663 S421R possibly damaging Het
Mroh9 T G 1: 163,062,502 N222T possibly damaging Het
Msl3 C A X: 168,670,251 R89L probably benign Het
Nrip1 T A 16: 76,291,675 D998V probably benign Het
Nrk T A X: 138,995,929 I1265N probably damaging Het
Ntn5 A G 7: 45,691,406 probably benign Het
Olfr1153 A T 2: 87,896,899 R233S possibly damaging Het
Olfr743 A G 14: 50,533,850 N146S probably benign Het
Olfr750 T G 14: 51,071,309 E28A probably benign Het
Plch2 T C 4: 155,043,138 probably benign Het
Porcn C T X: 8,201,662 V233I probably benign Het
Ppp2r2a T C 14: 67,038,912 K48R probably benign Het
Rccd1 A T 7: 80,319,007 D268E probably benign Het
Sacs C A 14: 61,189,678 S178R probably damaging Het
Samd12 T A 15: 53,658,466 D116V probably damaging Het
Slc12a8 A G 16: 33,608,198 E46G probably damaging Het
Slc30a10 A T 1: 185,455,241 I60F possibly damaging Het
Slc6a8 C T X: 73,678,977 probably benign Het
Sos2 A G 12: 69,618,048 probably benign Het
Tbc1d31 T C 15: 57,919,942 V79A probably benign Het
Tmem184c A T 8: 77,604,814 V102E probably benign Het
Ttc19 G T 11: 62,313,113 R300I probably damaging Het
Unc5d T A 8: 28,652,827 I866F probably benign Het
Vmn1r7 A T 6: 57,024,889 C129S probably benign Het
Vps41 T A 13: 18,791,657 probably benign Het
Vwa8 C T 14: 79,094,284 A1275V possibly damaging Het
Other mutations in 4930415L06Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02226:4930415L06Rik APN X 89931912 missense probably damaging 0.99
R1980:4930415L06Rik UTSW X 89931445 missense probably damaging 1.00
R1981:4930415L06Rik UTSW X 89931445 missense probably damaging 1.00
R1982:4930415L06Rik UTSW X 89931445 missense probably damaging 1.00
R2299:4930415L06Rik UTSW X 89932399 missense possibly damaging 0.72
R2381:4930415L06Rik UTSW X 89930510 missense probably benign 0.34
R2895:4930415L06Rik UTSW X 89932399 missense possibly damaging 0.72
R2896:4930415L06Rik UTSW X 89932399 missense possibly damaging 0.72
R4001:4930415L06Rik UTSW X 89930510 missense probably benign 0.34
R4003:4930415L06Rik UTSW X 89930510 missense probably benign 0.34
R4042:4930415L06Rik UTSW X 89932303 missense probably damaging 1.00
R4043:4930415L06Rik UTSW X 89932303 missense probably damaging 1.00
R4280:4930415L06Rik UTSW X 89932499 missense probably damaging 1.00
R4281:4930415L06Rik UTSW X 89932499 missense probably damaging 1.00
R4282:4930415L06Rik UTSW X 89932499 missense probably damaging 1.00
Z1088:4930415L06Rik UTSW X 89930236 missense unknown
Z1088:4930415L06Rik UTSW X 89930237 missense unknown
Z1176:4930415L06Rik UTSW X 89930241 missense unknown
Posted On2014-05-07