Incidental Mutation 'IGL02151:1700007G11Rik'
ID282014
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700007G11Rik
Ensembl Gene ENSMUSG00000057816
Gene NameRIKEN cDNA 1700007G11 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.178) question?
Stock #IGL02151
Quality Score
Status
Chromosome5
Chromosomal Location98329304-98802047 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 98329442 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 24 (T24M)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080333]
Predicted Effect possibly damaging
Transcript: ENSMUST00000080333
AA Change: T30M

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000079208
Gene: ENSMUSG00000057816
AA Change: T30M

DomainStartEndE-ValueType
Pfam:DUF4464 12 232 7.1e-100 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000196339
AA Change: T24M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197724
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197812
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra3 G T 5: 49,979,142 T667N probably benign Het
Aff4 T C 11: 53,399,806 I531T probably benign Het
Akap9 C T 5: 4,032,728 Q1951* probably null Het
Arhgef10 C T 8: 14,928,889 T52M possibly damaging Het
Atg2a A G 19: 6,255,757 E1132G possibly damaging Het
AW551984 A C 9: 39,592,945 I575S probably benign Het
Cog7 T C 7: 121,943,808 E460G probably damaging Het
Ctse A G 1: 131,672,535 I341V probably benign Het
Dcpp1 A T 17: 23,882,594 I106L possibly damaging Het
Dcxr T A 11: 120,725,983 M158L probably benign Het
Dnah11 A T 12: 118,059,888 probably benign Het
Dnah7a T A 1: 53,472,864 I3013F probably benign Het
Dnah8 A G 17: 30,648,417 D281G possibly damaging Het
Dpysl3 G A 18: 43,358,300 H136Y probably damaging Het
Eaf1 C T 14: 31,497,787 T61M probably damaging Het
Fmnl1 A G 11: 103,192,772 T441A probably benign Het
Gm6169 T A 13: 97,099,174 T22S probably null Het
Hmgcll1 C T 9: 76,081,438 P197L probably benign Het
Kdm4b T C 17: 56,396,234 V643A probably benign Het
Lrch2 A G X: 147,553,720 F111L possibly damaging Het
Macf1 A T 4: 123,371,766 probably benign Het
Mfsd4b2 T C 10: 39,921,691 N223D probably damaging Het
Mug1 G A 6: 121,884,690 probably null Het
Nek7 A T 1: 138,487,100 L270Q probably damaging Het
Nexn T A 3: 152,248,244 D127V probably damaging Het
Nxf3 A G X: 136,079,573 F130S probably damaging Het
Olfr655 A G 7: 104,596,534 S216P probably damaging Het
Olfr96 T A 17: 37,225,166 F14I probably damaging Het
Pcdhb16 G A 18: 37,478,358 V124I possibly damaging Het
Podxl T C 6: 31,524,459 D387G possibly damaging Het
Rab3d C A 9: 21,915,724 R70M probably damaging Het
Ripk2 A T 4: 16,139,240 M219K possibly damaging Het
Rnf146 A G 10: 29,347,353 V179A probably damaging Het
Robo1 G T 16: 72,989,616 V839L probably benign Het
Rttn T A 18: 89,020,205 N808K probably damaging Het
Slc12a3 T G 8: 94,348,592 V738G probably benign Het
Slc26a3 T C 12: 31,447,831 V78A probably damaging Het
Slc26a9 G A 1: 131,764,043 V675M probably damaging Het
Sncb T A 13: 54,762,696 I76F probably benign Het
Stat4 G A 1: 52,013,870 R70H probably damaging Het
Tle6 T C 10: 81,598,640 M42V probably benign Het
Tmem67 T C 4: 12,068,882 T439A probably benign Het
Ugt2b35 C A 5: 87,003,282 T249K possibly damaging Het
Vmn1r231 C T 17: 20,889,735 R306K probably benign Het
Vmn1r42 A T 6: 89,845,041 I182N possibly damaging Het
Zfhx3 T C 8: 108,793,883 S546P probably damaging Het
Zic3 G T X: 58,031,539 probably null Het
Other mutations in 1700007G11Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00775:1700007G11Rik APN 5 98784510 missense probably benign 0.00
IGL01133:1700007G11Rik APN 5 98498381 critical splice donor site probably null
LCD18:1700007G11Rik UTSW 5 98707508 intron probably benign
PIT4514001:1700007G11Rik UTSW 5 98801871 missense probably benign 0.00
R0962:1700007G11Rik UTSW 5 98566561 intron probably benign
R1545:1700007G11Rik UTSW 5 98329432 missense probably benign 0.25
R1886:1700007G11Rik UTSW 5 98801831 missense probably benign 0.41
R1954:1700007G11Rik UTSW 5 98566753 intron probably benign
R1965:1700007G11Rik UTSW 5 98346234 missense probably damaging 1.00
R2008:1700007G11Rik UTSW 5 98737702 missense possibly damaging 0.90
R3873:1700007G11Rik UTSW 5 98737623 missense probably damaging 1.00
R4940:1700007G11Rik UTSW 5 98737636 missense possibly damaging 0.95
R5708:1700007G11Rik UTSW 5 98737707 missense probably benign
R6509:1700007G11Rik UTSW 5 98329397 missense probably benign 0.16
R6595:1700007G11Rik UTSW 5 98801858 missense possibly damaging 0.78
R7009:1700007G11Rik UTSW 5 98784520 missense probably damaging 0.99
Posted On2015-04-16