Incidental Mutation 'IGL03171:1700003E16Rik'
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ID411826
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700003E16Rik
Ensembl Gene ENSMUSG00000030030
Gene NameRIKEN cDNA 1700003E16 gene
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.645) question?
Stock #IGL03171
Quality Score
Status
Chromosome6
Chromosomal Location83156404-83162945 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 83162395 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 434 (F434Y)
Ref Sequence ENSEMBL: ENSMUSP00000032106 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032106] [ENSMUST00000077407] [ENSMUST00000113913] [ENSMUST00000130212] [ENSMUST00000203203]
Predicted Effect possibly damaging
Transcript: ENSMUST00000032106
AA Change: F434Y

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000032106
Gene: ENSMUSG00000030030
AA Change: F434Y

DomainStartEndE-ValueType
Pfam:DUF4639 6 571 3.7e-266 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000077407
SMART Domains Protein: ENSMUSP00000076623
Gene: ENSMUSG00000031865

DomainStartEndE-ValueType
CAP_GLY 12 78 5.52e-31 SMART
low complexity region 124 147 N/A INTRINSIC
low complexity region 148 177 N/A INTRINSIC
SCOP:d1fxkc_ 185 337 3e-3 SMART
low complexity region 363 379 N/A INTRINSIC
Pfam:Dynactin 489 768 8.2e-91 PFAM
low complexity region 800 820 N/A INTRINSIC
coiled coil region 914 1009 N/A INTRINSIC
low complexity region 1025 1043 N/A INTRINSIC
coiled coil region 1143 1172 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113913
SMART Domains Protein: ENSMUSP00000109546
Gene: ENSMUSG00000031865

DomainStartEndE-ValueType
CAP_GLY 12 78 5.52e-31 SMART
low complexity region 118 139 N/A INTRINSIC
low complexity region 144 167 N/A INTRINSIC
low complexity region 168 197 N/A INTRINSIC
SCOP:d1fxkc_ 205 357 3e-3 SMART
low complexity region 383 399 N/A INTRINSIC
Pfam:Dynactin 509 788 2.5e-90 PFAM
low complexity region 820 840 N/A INTRINSIC
coiled coil region 934 1029 N/A INTRINSIC
low complexity region 1051 1069 N/A INTRINSIC
coiled coil region 1168 1197 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130212
SMART Domains Protein: ENSMUSP00000115838
Gene: ENSMUSG00000031865

DomainStartEndE-ValueType
CAP_GLY 12 78 5.52e-31 SMART
low complexity region 124 147 N/A INTRINSIC
low complexity region 148 177 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154953
Predicted Effect probably benign
Transcript: ENSMUST00000203203
SMART Domains Protein: ENSMUSP00000145406
Gene: ENSMUSG00000030030

DomainStartEndE-ValueType
Pfam:DUF4639 6 82 1.4e-52 PFAM
low complexity region 90 107 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 G T 11: 46,138,854 A709S probably damaging Het
Adgrf3 A T 5: 30,196,294 L42Q probably damaging Het
D430041D05Rik T C 2: 104,241,163 N1264S possibly damaging Het
Dnah9 T G 11: 65,981,241 K2721T probably benign Het
Efr3b C T 12: 3,968,622 A575T probably benign Het
Esco1 T C 18: 10,594,263 E341G probably damaging Het
Ezh2 G A 6: 47,540,781 R574* probably null Het
Fam169a G T 13: 97,110,014 probably benign Het
Fry T C 5: 150,380,809 Y555H probably damaging Het
Gm17175 A C 14: 51,571,608 S100R probably damaging Het
Gm4778 C A 3: 94,266,455 H257N probably benign Het
Gm527 T C 12: 64,921,157 Y118H probably damaging Het
Gm8765 T A 13: 50,702,352 S675R probably benign Het
H2-M10.4 G T 17: 36,461,250 T202N probably damaging Het
Igf1 A T 10: 87,864,821 T36S probably damaging Het
Ints8 C T 4: 11,231,702 V428I probably benign Het
Itga6 G A 2: 71,841,329 probably null Het
Jmjd1c A G 10: 67,225,498 E1210G possibly damaging Het
Kdm2a A T 19: 4,356,764 V134E probably damaging Het
Limch1 C A 5: 67,034,194 N947K possibly damaging Het
Met T C 6: 17,562,273 probably benign Het
Neb A G 2: 52,216,364 probably benign Het
Ogg1 A G 6: 113,333,414 I274V possibly damaging Het
Ola1 A T 2: 73,156,853 I145K probably benign Het
Olfr458 G A 6: 42,460,530 T163I possibly damaging Het
Pacrg A G 17: 10,576,533 V166A possibly damaging Het
Pira2 T A 7: 3,842,605 E260V probably damaging Het
Prickle3 T C X: 7,665,287 C277R probably damaging Het
Psen1 A G 12: 83,714,864 T147A probably damaging Het
Pxk C T 14: 8,151,014 probably benign Het
Scn11a G A 9: 119,819,847 P50L probably benign Het
Scn4a C A 11: 106,345,592 V281L probably benign Het
Shcbp1 A G 8: 4,739,166 I551T probably benign Het
Snx13 T A 12: 35,100,540 I281N probably benign Het
Tdo2 T C 3: 81,967,029 K209E probably benign Het
Trip6 C T 5: 137,312,884 R190Q probably benign Het
Ttc30a1 C T 2: 75,980,507 A411T probably benign Het
Ubqln1 T A 13: 58,180,858 E426D probably damaging Het
Zfp607b C A 7: 27,693,595 N49K possibly damaging Het
Other mutations in 1700003E16Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01087:1700003E16Rik APN 6 83162788 splice site probably null
IGL02616:1700003E16Rik APN 6 83161662 missense probably benign
IGL03196:1700003E16Rik APN 6 83161063 missense probably damaging 1.00
R0124:1700003E16Rik UTSW 6 83161674 missense probably benign
R1081:1700003E16Rik UTSW 6 83162020 missense probably benign
R1184:1700003E16Rik UTSW 6 83160912 missense probably damaging 1.00
R1522:1700003E16Rik UTSW 6 83162586 missense probably damaging 0.96
R4361:1700003E16Rik UTSW 6 83162706 missense probably damaging 0.99
R4688:1700003E16Rik UTSW 6 83162698 missense probably damaging 0.99
R5326:1700003E16Rik UTSW 6 83161354 missense probably damaging 0.99
R6007:1700003E16Rik UTSW 6 83160918 missense possibly damaging 0.80
R7212:1700003E16Rik UTSW 6 83161672 missense probably benign 0.00
R7343:1700003E16Rik UTSW 6 83162371 missense probably benign 0.12
R8081:1700003E16Rik UTSW 6 83161331 missense probably damaging 1.00
R8121:1700003E16Rik UTSW 6 83161911 missense probably benign
Z1176:1700003E16Rik UTSW 6 83161115 missense probably damaging 1.00
Posted On2016-08-02