Incidental Mutation 'IGL03108:9130011E15Rik'
ID419087
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 9130011E15Rik
Ensembl Gene ENSMUSG00000039901
Gene NameRIKEN cDNA 9130011E15 gene
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03108
Quality Score
Status
Chromosome19
Chromosomal Location45818144-45998488 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 45820353 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 633 (T633I)
Ref Sequence ENSEMBL: ENSMUSP00000048454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026247] [ENSMUST00000045396] [ENSMUST00000079431] [ENSMUST00000161886] [ENSMUST00000162528] [ENSMUST00000162661]
Predicted Effect probably benign
Transcript: ENSMUST00000026247
SMART Domains Protein: ENSMUSP00000026247
Gene: ENSMUSG00000025221

DomainStartEndE-ValueType
EFh 126 154 1e-1 SMART
EFh 162 190 1.88e-6 SMART
EFh 210 238 4.6e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000045396
AA Change: T633I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000048454
Gene: ENSMUSG00000039901
AA Change: T633I

DomainStartEndE-ValueType
low complexity region 155 167 N/A INTRINSIC
low complexity region 327 348 N/A INTRINSIC
DUF1741 435 671 5.65e-139 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000079431
SMART Domains Protein: ENSMUSP00000078400
Gene: ENSMUSG00000025221

DomainStartEndE-ValueType
EFh 126 154 1e-1 SMART
EFh 162 190 1.88e-6 SMART
EFh 210 238 4.6e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000111906
Predicted Effect probably benign
Transcript: ENSMUST00000161886
SMART Domains Protein: ENSMUSP00000124482
Gene: ENSMUSG00000025221

DomainStartEndE-ValueType
EFh 94 122 1e-1 SMART
EFh 130 158 1.88e-6 SMART
EFh 178 206 4.6e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162528
SMART Domains Protein: ENSMUSP00000125142
Gene: ENSMUSG00000025221

DomainStartEndE-ValueType
low complexity region 64 75 N/A INTRINSIC
EFh 144 172 1e-1 SMART
EFh 180 208 1.88e-6 SMART
EFh 228 256 4.6e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162661
SMART Domains Protein: ENSMUSP00000124821
Gene: ENSMUSG00000025221

DomainStartEndE-ValueType
EFh 94 122 3.4e-4 SMART
EFh 142 170 1.63e-1 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 C A 13: 81,559,529 V1253F probably damaging Het
Apbb2 A G 5: 66,400,231 W296R probably damaging Het
Btbd3 T C 2: 138,284,123 V409A possibly damaging Het
C130050O18Rik A T 5: 139,415,065 D291V probably damaging Het
Catsper3 A G 13: 55,808,035 N318D probably benign Het
Chd1 T A 17: 15,725,281 D22E possibly damaging Het
Chrnb2 G A 3: 89,763,374 probably benign Het
Col24a1 G A 3: 145,323,401 G550D probably damaging Het
Cryl1 T C 14: 57,313,077 D110G probably damaging Het
Deaf1 A G 7: 141,322,961 I150T probably damaging Het
Eif3a A T 19: 60,782,309 D33E possibly damaging Het
Fabp12 C A 3: 10,250,054 G78C probably benign Het
Fat1 A G 8: 45,023,614 D1899G probably damaging Het
Galnt13 G A 2: 54,854,648 V120I probably benign Het
Ganab G A 19: 8,912,476 A635T probably damaging Het
Gm17509 G A 13: 117,220,844 probably benign Het
Gstm3 A T 3: 107,967,764 probably null Het
Hfm1 T A 5: 106,895,934 probably benign Het
Hoxd13 A C 2: 74,670,096 D327A probably damaging Het
Ints4 G T 7: 97,490,930 probably null Het
Kcna10 A T 3: 107,194,943 T297S probably benign Het
Ldb2 G A 5: 44,541,715 T127I probably damaging Het
Mapk7 T C 11: 61,491,672 D68G probably damaging Het
Msh3 A T 13: 92,221,088 probably benign Het
Muc6 A G 7: 141,637,489 S2359P possibly damaging Het
Mup6 A T 4: 60,005,990 I161F possibly damaging Het
Nup160 G A 2: 90,703,825 V665I probably benign Het
Olfr1507 T A 14: 52,490,076 D296V probably damaging Het
Olfr304 T C 7: 86,385,721 Y313C possibly damaging Het
Olfr535 A G 7: 140,493,121 N161S possibly damaging Het
Otog G A 7: 46,251,338 V352I probably damaging Het
Oxct1 T A 15: 4,035,282 V34D probably benign Het
Pcdhb21 T A 18: 37,515,891 probably null Het
Pcdhb8 T G 18: 37,357,246 V659G probably damaging Het
Plxnb2 T C 15: 89,158,031 N1590S probably benign Het
Rnf168 G T 16: 32,278,281 R56L possibly damaging Het
Scn8a C T 15: 100,974,615 P362S probably benign Het
Slc1a3 T A 15: 8,639,078 I468F probably damaging Het
Slc39a14 G A 14: 70,318,919 R3W probably damaging Het
Slc7a6 T A 8: 106,194,517 N373K probably damaging Het
Snrnp200 T C 2: 127,238,167 S1955P possibly damaging Het
Stat5a T A 11: 100,863,139 Y98* probably null Het
Thsd7b G T 1: 130,210,276 G1564C probably damaging Het
Zc3h13 T C 14: 75,331,766 V1351A possibly damaging Het
Other mutations in 9130011E15Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00392:9130011E15Rik APN 19 45940488 missense probably benign 0.19
IGL00788:9130011E15Rik APN 19 45932350 critical splice donor site probably null
IGL01356:9130011E15Rik APN 19 45966303 missense possibly damaging 0.94
IGL01477:9130011E15Rik APN 19 45978604 missense probably damaging 0.99
IGL01660:9130011E15Rik APN 19 45940476 missense probably damaging 1.00
IGL02193:9130011E15Rik APN 19 45972884 missense probably benign 0.02
IGL02863:9130011E15Rik APN 19 45958411 missense probably damaging 1.00
R0035:9130011E15Rik UTSW 19 45891240 missense probably damaging 1.00
R0791:9130011E15Rik UTSW 19 45933868 splice site probably null
R0792:9130011E15Rik UTSW 19 45933868 splice site probably null
R1487:9130011E15Rik UTSW 19 45940443 critical splice donor site probably null
R1843:9130011E15Rik UTSW 19 45975252 missense probably benign 0.17
R2061:9130011E15Rik UTSW 19 45978667 missense probably damaging 1.00
R2070:9130011E15Rik UTSW 19 45891285 missense probably damaging 1.00
R2072:9130011E15Rik UTSW 19 45965381 missense probably damaging 0.99
R2073:9130011E15Rik UTSW 19 45965381 missense probably damaging 0.99
R2074:9130011E15Rik UTSW 19 45965381 missense probably damaging 0.99
R2091:9130011E15Rik UTSW 19 45952680 missense probably damaging 1.00
R2263:9130011E15Rik UTSW 19 45932349 critical splice donor site probably null
R2863:9130011E15Rik UTSW 19 45885957 missense probably damaging 1.00
R3236:9130011E15Rik UTSW 19 45975283 splice site probably benign
R3796:9130011E15Rik UTSW 19 45921610 splice site probably benign
R4044:9130011E15Rik UTSW 19 45820324 missense probably damaging 1.00
R4716:9130011E15Rik UTSW 19 45960342 missense probably damaging 1.00
R4974:9130011E15Rik UTSW 19 45820287 missense probably damaging 1.00
R4983:9130011E15Rik UTSW 19 45950707 missense probably benign
R5063:9130011E15Rik UTSW 19 45885955 missense possibly damaging 0.95
R5313:9130011E15Rik UTSW 19 45818975 missense probably damaging 1.00
R5782:9130011E15Rik UTSW 19 45886027 missense probably benign 0.08
R5985:9130011E15Rik UTSW 19 45820324 missense probably damaging 1.00
R6220:9130011E15Rik UTSW 19 45846115 missense possibly damaging 0.79
R6379:9130011E15Rik UTSW 19 45921697 missense possibly damaging 0.46
R6674:9130011E15Rik UTSW 19 45974998 missense probably benign 0.06
R6842:9130011E15Rik UTSW 19 45818977 missense probably benign 0.05
R6890:9130011E15Rik UTSW 19 45960357 missense probably damaging 1.00
R7034:9130011E15Rik UTSW 19 45965249 missense probably damaging 0.98
R7036:9130011E15Rik UTSW 19 45965249 missense probably damaging 0.98
R7305:9130011E15Rik UTSW 19 45892121 missense probably benign 0.35
R7411:9130011E15Rik UTSW 19 45965435 missense probably benign 0.00
R7762:9130011E15Rik UTSW 19 45940443 critical splice donor site probably null
R8021:9130011E15Rik UTSW 19 45956741 critical splice acceptor site probably null
X0060:9130011E15Rik UTSW 19 45932393 missense possibly damaging 0.95
Z1088:9130011E15Rik UTSW 19 45818905 missense probably damaging 1.00
Posted On2016-08-02