Incidental Mutation 'IGL02558:1700109H08Rik'
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ID298378
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: 0.107) question?
Stock #IGL02558
Quality Score
Status
Chromosome5
Chromosomal Location3571566-3584356 bp(+) (GRCm38)
Type of Mutationmakesense
DNA Base Change (assembly) A to C at 3582194 bp
ZygosityHeterozygous
Amino Acid Change Stop codon to Cysteine at position 25 (*25C)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008451] [ENSMUST00000042753] [ENSMUST00000125740] [ENSMUST00000147801]
Predicted Effect probably benign
Transcript: ENSMUST00000008451
AA Change: K175Q

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000008451
Gene: ENSMUSG00000008307
AA Change: K175Q

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 null
Transcript: ENSMUST00000156973
AA Change: *25C
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,399,387 Y3654H probably damaging Het
Ankle1 T C 8: 71,408,992 F438S probably damaging Het
Atp10a A T 7: 58,819,642 R1080S probably damaging Het
Ccdc51 A T 9: 109,092,184 N380Y probably damaging Het
Ccr8 A T 9: 120,094,658 I280F probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cep162 T C 9: 87,225,733 T535A probably benign Het
Cep162 G T 9: 87,225,726 T537N probably benign Het
Cfap52 T C 11: 67,954,138 D35G probably benign Het
Cmip G A 8: 117,449,088 S530N probably damaging Het
Col9a3 A T 2: 180,606,806 probably null Het
Csf3r T C 4: 126,038,135 Het
Csk C T 9: 57,630,263 E123K probably benign Het
Csrnp3 G A 2: 66,022,229 E322K probably damaging Het
Ddx11 A T 17: 66,148,672 I663F probably damaging Het
Dnah1 T A 14: 31,274,379 M2667L possibly damaging Het
Foxred1 T C 9: 35,210,133 K40E probably damaging Het
Gata2 C T 6: 88,199,780 P74S probably benign Het
Gdf10 T G 14: 33,923,980 C29G probably benign Het
Hectd4 A G 5: 121,344,785 E3133G probably benign Het
Ints8 G A 4: 11,218,771 R784W probably damaging Het
Lrriq1 T C 10: 103,146,283 E1392G probably damaging Het
Muc19 T C 15: 91,897,622 noncoding transcript Het
Myom2 A T 8: 15,114,237 D1044V probably benign Het
Nphp4 G T 4: 152,555,531 R958L probably damaging Het
Nup205 C T 6: 35,189,924 P293S probably damaging Het
Olfr1130 T C 2: 87,607,559 I57T probably benign Het
Olfr23 A T 11: 73,940,825 H193L probably benign Het
Plxdc2 A G 2: 16,669,598 Het
Pwp2 T C 10: 78,179,065 S362G probably damaging Het
Siglec1 G T 2: 131,074,995 S1113R possibly damaging Het
Sirpa A G 2: 129,630,069 E472G probably damaging Het
Slc39a4 G T 15: 76,614,203 L345M probably damaging Het
Snx27 C T 3: 94,502,881 R496Q probably damaging Het
Stard9 A G 2: 120,696,907 H1215R possibly damaging Het
Stau1 A G 2: 166,950,848 Y371H probably benign Het
Sult2a1 A C 7: 13,832,595 W152G probably benign Het
Syt16 A T 12: 74,235,058 K319* probably null Het
Tcf7 T A 11: 52,253,970 probably benign Het
Tfdp1 A G 8: 13,369,546 N92D possibly damaging Het
Zfp13 C T 17: 23,576,098 A493T probably benign 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
IGL02040:1700109H08Rik APN 5 3580405 missense probably damaging 1.00
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 On2015-04-16