Incidental Mutation 'IGL02022:1700001J03Rik'
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ID183993
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700001J03Rik
Ensembl Gene ENSMUSG00000095040
Gene NameRIKEN cDNA 1700001J03 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.060) question?
Stock #IGL02022
Quality Score
Status
Chromosome5
Chromosomal Location146182441-146185304 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 146183548 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 160 (Y160C)
Ref Sequence ENSEMBL: ENSMUSP00000073399 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073721]
Predicted Effect probably damaging
Transcript: ENSMUST00000073721
AA Change: Y160C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073399
Gene: ENSMUSG00000095040
AA Change: Y160C

DomainStartEndE-ValueType
Pfam:RasGEF_N 68 160 1.6e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188052
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp T C 16: 56,592,636 S314P probably damaging Het
Abra T C 15: 41,869,406 H88R probably benign Het
Bsn A G 9: 108,110,418 probably benign Het
Chd3 A C 11: 69,361,060 C123G probably damaging Het
Clca3b A C 3: 144,841,410 probably null Het
Cnot7 G T 8: 40,499,345 P190T probably damaging Het
Cps1 A T 1: 67,172,872 probably benign Het
Dennd2d A G 3: 106,499,904 T424A probably benign Het
Dnhd1 C T 7: 105,678,309 R54C probably damaging Het
Efhd1 G A 1: 87,264,612 E55K probably damaging Het
Ep300 T C 15: 81,611,437 probably benign Het
Ezh1 G T 11: 101,199,340 H529Q probably damaging Het
Klhl3 A T 13: 58,051,064 S201T possibly damaging Het
Krt2 A G 15: 101,816,518 F219S probably damaging Het
Lrp1b C T 2: 41,282,160 D751N probably damaging Het
Lyst T A 13: 13,664,044 C1848* probably null Het
Macf1 A G 4: 123,391,049 probably null Het
Med10 T C 13: 69,813,700 probably benign Het
Msh4 T A 3: 153,886,956 T170S probably damaging Het
Olfr665 T C 7: 104,880,934 C76R probably damaging Het
Pelp1 T A 11: 70,406,327 probably benign Het
Prex2 G A 1: 11,297,739 V1595I probably benign Het
Prpf8 C T 11: 75,501,834 R1617* probably null Het
Rabep1 T A 11: 70,934,559 L684Q probably damaging Het
Slc22a4 G A 11: 53,983,609 probably benign Het
Smox T C 2: 131,520,117 F153S probably damaging Het
Tma16 A G 8: 66,486,410 probably null Het
Unc80 G T 1: 66,626,516 R1814L possibly damaging Het
Vmn2r108 C T 17: 20,471,725 D179N possibly damaging Het
Washc2 A G 6: 116,259,165 E1199G probably benign Het
Zic1 C A 9: 91,362,472 probably null Het
Other mutations in 1700001J03Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02141:1700001J03Rik APN 5 146183465 missense probably benign 0.00
IGL02475:1700001J03Rik APN 5 146182533 utr 3 prime probably benign
R0682:1700001J03Rik UTSW 5 146184840 missense probably benign 0.05
R1808:1700001J03Rik UTSW 5 146184881 nonsense probably null
R2083:1700001J03Rik UTSW 5 146184871 missense possibly damaging 0.75
R2919:1700001J03Rik UTSW 5 146185191 missense probably benign 0.00
R3753:1700001J03Rik UTSW 5 146184867 missense probably damaging 1.00
R4764:1700001J03Rik UTSW 5 146185219 missense probably benign 0.00
Posted On2014-05-07