Incidental Mutation 'IGL02737:5430401F13Rik'
ID305710
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 5430401F13Rik
Ensembl Gene ENSMUSG00000094113
Gene NameRIKEN cDNA 5430401F13 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #IGL02737
Quality Score
Status
Chromosome6
Chromosomal Location131486400-131553763 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 131552592 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 50 (I50L)
Ref Sequence ENSEMBL: ENSMUSP00000125129 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075020] [ENSMUST00000161385]
Predicted Effect probably benign
Transcript: ENSMUST00000075020
AA Change: I50L

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000074539
Gene: ENSMUSG00000094113
AA Change: I50L

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 100 116 N/A INTRINSIC
low complexity region 118 166 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161385
AA Change: I50L

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000125129
Gene: ENSMUSG00000094113
AA Change: I50L

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 100 116 N/A INTRINSIC
low complexity region 118 166 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110051M20Rik T A 2: 91,304,797 Q9L probably damaging Het
4932414N04Rik T A 2: 68,736,560 H434Q possibly damaging Het
Ahnak G A 19: 9,004,593 M1080I probably benign Het
Aoc1 A G 6: 48,907,643 K540R probably benign Het
Aplp2 T C 9: 31,153,416 M585V probably benign Het
C3 A G 17: 57,204,281 L1607P probably benign Het
C6 A G 15: 4,796,914 K660E probably benign Het
Cabin1 T C 10: 75,713,585 T1329A probably benign Het
Ccdc141 T A 2: 77,057,924 N499I probably damaging Het
Cdh5 A G 8: 104,142,928 D762G probably damaging Het
Cep152 T C 2: 125,586,474 R746G possibly damaging Het
Cps1 A T 1: 67,148,774 Q198L probably benign Het
D10Wsu102e T A 10: 83,364,445 M90K probably damaging Het
Eri3 T C 4: 117,564,860 F112L probably damaging Het
Fam180a C A 6: 35,313,553 R165L probably benign Het
Fam205a1 C A 4: 42,849,431 L908F possibly damaging Het
Fkbp10 A C 11: 100,422,655 I252L probably benign Het
Gtf2f1 G T 17: 57,003,918 Q410K possibly damaging Het
Hmcn1 T C 1: 150,563,828 Y5535C probably damaging Het
Ifrd2 T A 9: 107,592,170 D372E probably benign Het
Il3ra A G 14: 14,350,760 N165S probably benign Het
Kntc1 A G 5: 123,819,120 N2164S probably benign Het
Krtap19-9a A G 16: 88,924,211 noncoding transcript Het
Olfr103 T A 17: 37,336,773 H153L possibly damaging Het
Pclo T C 5: 14,714,163 S4217P unknown Het
Ppfibp1 G A 6: 147,027,308 V798I probably damaging Het
Prune2 A T 19: 17,193,411 R165* probably null Het
Ptges T C 2: 30,892,686 Y118C probably damaging Het
Rab11fip5 C A 6: 85,348,558 G289W probably damaging Het
Rfc1 T C 5: 65,311,163 D69G possibly damaging Het
Scube1 A G 15: 83,721,843 probably benign Het
Slc5a6 G A 5: 31,037,167 P565L probably benign Het
Sncaip C A 18: 52,907,056 T774K probably benign Het
Specc1l G A 10: 75,246,324 S535N probably damaging Het
Tbk1 C T 10: 121,559,862 G442E probably null Het
Thoc7 A T 14: 13,953,443 M78K possibly damaging Het
Usp15 A G 10: 123,131,032 F461S probably damaging Het
Vmn2r6 T A 3: 64,556,490 I308L possibly damaging Het
Zhx2 C A 15: 57,822,267 T344N probably damaging Het
Other mutations in 5430401F13Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0866:5430401F13Rik UTSW 6 131552779 missense unknown
R1674:5430401F13Rik UTSW 6 131552803 missense unknown
R6374:5430401F13Rik UTSW 6 131552929 missense unknown
R6671:5430401F13Rik UTSW 6 131551350 critical splice donor site probably null
R7150:5430401F13Rik UTSW 6 131552667 missense probably benign 0.16
RF005:5430401F13Rik UTSW 6 131552884 small insertion probably benign
RF014:5430401F13Rik UTSW 6 131552857 small insertion probably benign
RF015:5430401F13Rik UTSW 6 131552856 small insertion probably benign
RF015:5430401F13Rik UTSW 6 131552859 small insertion probably benign
RF015:5430401F13Rik UTSW 6 131552861 small insertion probably benign
RF023:5430401F13Rik UTSW 6 131552855 small insertion probably benign
RF023:5430401F13Rik UTSW 6 131552878 small insertion probably benign
RF029:5430401F13Rik UTSW 6 131552895 small insertion probably benign
RF037:5430401F13Rik UTSW 6 131552887 small insertion probably benign
RF037:5430401F13Rik UTSW 6 131552888 small insertion probably benign
RF041:5430401F13Rik UTSW 6 131552873 small insertion probably benign
RF041:5430401F13Rik UTSW 6 131552892 small insertion probably benign
RF041:5430401F13Rik UTSW 6 131552894 small insertion probably benign
RF042:5430401F13Rik UTSW 6 131552886 small insertion probably benign
RF058:5430401F13Rik UTSW 6 131552887 small insertion probably benign
RF058:5430401F13Rik UTSW 6 131552901 small insertion probably benign
RF063:5430401F13Rik UTSW 6 131552883 small insertion probably benign
RF063:5430401F13Rik UTSW 6 131552884 small insertion probably benign
X0062:5430401F13Rik UTSW 6 131552638 missense probably benign 0.29
Z1177:5430401F13Rik UTSW 6 131552721 missense possibly damaging 0.66
Posted On2015-04-16