Incidental Mutation 'IGL02737:1110051M20Rik'
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ID305717
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1110051M20Rik
Ensembl Gene ENSMUSG00000040591
Gene NameRIKEN cDNA 1110051M20 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.120) question?
Stock #IGL02737
Quality Score
Status
Chromosome2
Chromosomal Location91275068-91444704 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 91304797 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 9 (Q9L)
Ref Sequence ENSEMBL: ENSMUSP00000092431 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064652] [ENSMUST00000094835] [ENSMUST00000102594]
Predicted Effect probably damaging
Transcript: ENSMUST00000064652
AA Change: Q106L

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000094835
AA Change: Q9L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000092431
Gene: ENSMUSG00000040591
AA Change: Q9L

DomainStartEndE-ValueType
low complexity region 219 234 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000102594
AA Change: Q106L

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099654
Gene: ENSMUSG00000040591
AA Change: Q106L

DomainStartEndE-ValueType
low complexity region 316 331 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145573
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T A 2: 68,736,560 H434Q possibly damaging Het
5430401F13Rik A T 6: 131,552,592 I50L probably benign 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 1110051M20Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6768_1110051M20Rik_026 UTSW 2 91421958 missense probably damaging 0.97
BB004:1110051M20Rik UTSW 2 91421905 missense probably damaging 1.00
BB014:1110051M20Rik UTSW 2 91421905 missense probably damaging 1.00
R0295:1110051M20Rik UTSW 2 91282594 missense probably damaging 1.00
R0437:1110051M20Rik UTSW 2 91421953 missense probably damaging 0.99
R0446:1110051M20Rik UTSW 2 91304764 missense possibly damaging 0.93
R0846:1110051M20Rik UTSW 2 91383837 missense probably damaging 0.98
R6768:1110051M20Rik UTSW 2 91421958 missense probably damaging 0.97
R6888:1110051M20Rik UTSW 2 91421894 missense probably damaging 1.00
R7751:1110051M20Rik UTSW 2 91383773 missense probably damaging 1.00
R7754:1110051M20Rik UTSW 2 91304843 splice site probably null
R7808:1110051M20Rik UTSW 2 91444594 start gained probably benign
R7927:1110051M20Rik UTSW 2 91421905 missense probably damaging 1.00
R8817:1110051M20Rik UTSW 2 91276998 missense probably benign 0.39
Posted On2015-04-16