Incidental Mutation 'IGL02558:1700109H08Rik'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700109H08Rik
Ensembl Gene ENSMUSG00000008307
Gene NameRIKEN cDNA 1700109H08 gene
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.177) question?
Stock #IGL02558
Quality Score
Chromosomal Location3571566-3584356 bp(+) (GRCm38)
Type of Mutationmakesense
DNA Base Change (assembly) A to C at 3582194 bp
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

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

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

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

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 probably benign 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 probably benign 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