Incidental Mutation 'IGL02040:1700109H08Rik'
ID184705
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700109H08Rik
Ensembl Gene ENSMUSG00000008307
Gene NameRIKEN cDNA 1700109H08 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.119) question?
Stock #IGL02040
Quality Score
Status
Chromosome5
Chromosomal Location3571566-3584356 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 3580405 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Cysteine at position 107 (F107C)
Ref Sequence ENSEMBL: ENSMUSP00000008451 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008451] [ENSMUST00000042753] [ENSMUST00000125740] [ENSMUST00000147801]
Predicted Effect probably damaging
Transcript: ENSMUST00000008451
AA Change: F107C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000008451
Gene: ENSMUSG00000008307
AA Change: F107C

DomainStartEndE-ValueType
EFh 68 96 1.56e-3 SMART
EFh 104 132 6.45e1 SMART
EFh 149 177 1.45e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000042753
SMART Domains Protein: ENSMUSP00000040952
Gene: ENSMUSG00000040302

DomainStartEndE-ValueType
Pfam:RRM_5 104 164 6.5e-11 PFAM
low complexity region 229 239 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125740
SMART Domains Protein: ENSMUSP00000117825
Gene: ENSMUSG00000008307

DomainStartEndE-ValueType
Pfam:EF-hand_1 27 55 1e-8 PFAM
Pfam:EF-hand_6 27 62 8.3e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147801
SMART Domains Protein: ENSMUSP00000118797
Gene: ENSMUSG00000008307

DomainStartEndE-ValueType
Pfam:EF-hand_1 68 96 1.2e-7 PFAM
Pfam:EF-hand_6 68 99 1e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156973
Predicted Effect probably benign
Transcript: ENSMUST00000176000
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198134
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198718
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik T C 6: 91,918,110 V262A probably benign Het
A830018L16Rik T A 1: 11,933,598 probably benign Het
Adgrb1 T C 15: 74,541,575 V536A possibly damaging Het
Ano6 T G 15: 95,955,944 I667R probably benign Het
Ap3b1 T A 13: 94,408,845 probably null Het
Azin2 G T 4: 128,950,658 L37M possibly damaging Het
Caap1 A G 4: 94,550,430 I174T probably damaging Het
Cacna1h A G 17: 25,397,611 V46A probably benign Het
Chrna6 T C 8: 27,407,261 D196G probably damaging Het
Col19a1 A G 1: 24,312,045 probably null Het
Defb22 G T 2: 152,490,056 T19K possibly damaging Het
Dhx36 T C 3: 62,501,015 D134G probably benign Het
Dync1h1 A G 12: 110,637,124 I2211V probably benign Het
Ecel1 A C 1: 87,154,923 C23G probably benign Het
Elmod2 A G 8: 83,321,497 V112A probably damaging Het
Enpp1 T C 10: 24,655,856 K510E probably damaging Het
Erbb4 A T 1: 68,042,535 S1113R probably damaging Het
Esf1 A T 2: 140,129,261 D653E possibly damaging Het
Exd1 A G 2: 119,540,065 V54A possibly damaging Het
Fam227b A T 2: 126,121,084 probably benign Het
Fnbp1l A G 3: 122,570,953 probably benign Het
Foxf1 A G 8: 121,085,345 N316S probably damaging Het
Gm12794 G A 4: 101,941,134 V101I possibly damaging Het
Gm15448 A G 7: 3,821,517 probably benign Het
Gpaa1 T C 15: 76,334,295 V426A probably benign Het
Gpc2 A G 5: 138,276,582 probably null Het
Hnrnpab A G 11: 51,601,795 probably benign Het
Hsf4 T G 8: 105,275,667 probably benign Het
Inpp4a G T 1: 37,396,085 R179L probably damaging Het
Jakmip2 T A 18: 43,571,854 M361L probably benign Het
Kif15 A C 9: 123,017,385 Y117S probably damaging Het
Lnpep T C 17: 17,544,905 H761R probably benign Het
Masp2 G T 4: 148,603,813 C180F probably damaging Het
Mical2 A G 7: 112,311,406 E261G probably damaging Het
Mtmr7 T C 8: 40,560,885 I211V probably benign Het
Nsd2 T C 5: 33,867,571 probably benign Het
Olfr1062 A G 2: 86,422,992 I228T probably damaging Het
Olfr1226 A G 2: 89,193,563 I157T probably benign Het
Olfr638 A G 7: 104,003,407 N44S probably damaging Het
Olfr933 T C 9: 38,976,614 probably benign Het
Oxct1 G A 15: 4,026,768 probably benign Het
Plbd2 C T 5: 120,487,442 S430N probably damaging Het
Postn A G 3: 54,362,689 K63R probably benign Het
Proc A T 18: 32,134,860 V75E probably benign Het
Ptprt T C 2: 162,238,072 Y269C probably damaging Het
Rcc2 T C 4: 140,720,591 V476A possibly damaging Het
Recql5 A G 11: 115,932,797 V41A possibly damaging Het
Ros1 T A 10: 52,115,922 I1402F probably damaging Het
Rpgrip1 C T 14: 52,121,019 T194I possibly damaging Het
Scin T C 12: 40,069,453 probably benign Het
Skint4 T C 4: 112,146,482 probably benign Het
Sptan1 T A 2: 30,013,713 S1545T probably benign Het
Tpra1 A T 6: 88,910,182 H168L possibly damaging Het
Trim47 T C 11: 116,107,908 E295G probably damaging Het
Ttc28 T A 5: 110,892,936 C63* probably null Het
Usp45 G A 4: 21,830,433 R696H probably benign Het
Zfyve27 G A 19: 42,179,391 R124Q probably damaging Het
Other mutations in 1700109H08Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00468:1700109H08Rik APN 5 3580453 missense probably damaging 1.00
IGL01948:1700109H08Rik APN 5 3577326 missense probably damaging 1.00
IGL02558:1700109H08Rik APN 5 3582194 makesense probably null
IGL02719:1700109H08Rik APN 5 3582150 missense probably damaging 1.00
R1831:1700109H08Rik UTSW 5 3577255 missense probably damaging 1.00
R2520:1700109H08Rik UTSW 5 3575773 missense probably damaging 1.00
R3915:1700109H08Rik UTSW 5 3577248 missense possibly damaging 0.69
R4594:1700109H08Rik UTSW 5 3575754 missense probably damaging 1.00
R6197:1700109H08Rik UTSW 5 3580442 nonsense probably null
Posted On2014-05-07