Incidental Mutation 'IGL02616:1700003E16Rik'
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ID300660
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: 0.686) question?
Stock #IGL02616
Quality Score
Status
Chromosome6
Chromosomal Location83156404-83162945 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 83161662 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 190 (R190G)
Ref Sequence ENSEMBL: ENSMUSP00000032106 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032106] [ENSMUST00000077407] [ENSMUST00000113913] [ENSMUST00000130212] [ENSMUST00000203203]
Predicted Effect probably benign
Transcript: ENSMUST00000032106
AA Change: R190G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032106
Gene: ENSMUSG00000030030
AA Change: R190G

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik T C 7: 43,501,013 probably null Het
Adcy4 T C 14: 55,783,514 probably null Het
Ahnak C A 19: 9,005,627 P1425Q probably benign Het
Arih1 A G 9: 59,412,476 V285A probably benign Het
Atp13a1 T C 8: 69,805,313 V906A probably benign Het
Atp2a2 A T 5: 122,461,684 I548N probably benign Het
C2cd5 A T 6: 143,035,111 S643T probably benign Het
Calcoco1 T C 15: 102,715,850 D210G probably damaging Het
Cep128 A G 12: 91,296,258 I289T probably benign Het
Ces1c C T 8: 93,106,615 M407I probably benign Het
Cntln T G 4: 85,115,452 probably null Het
Cypt12 T A 3: 17,948,728 H88Q possibly damaging Het
Ddc T A 11: 11,880,645 probably benign Het
Dnajb12 T C 10: 59,892,863 probably null Het
Gata2 A G 6: 88,205,480 T477A possibly damaging Het
Gckr A G 5: 31,327,075 D619G probably benign Het
Gm5699 A T 1: 30,998,351 noncoding transcript Het
Gm8257 T A 14: 44,655,226 S106C probably damaging Het
Gpr15 A C 16: 58,718,204 L174R probably damaging Het
Hnrnph3 T A 10: 63,019,485 H7L possibly damaging Het
Ide A T 19: 37,298,056 I518N unknown Het
Igdcc4 G A 9: 65,133,078 G957D probably damaging Het
Igsf10 G A 3: 59,318,606 P2549S probably benign Het
Kcnj9 A G 1: 172,325,964 S198P probably damaging Het
Lclat1 T C 17: 73,169,533 I45T probably benign Het
Met T C 6: 17,553,347 L1044S probably damaging Het
Msh4 T C 3: 153,857,523 T739A probably benign Het
Ncam1 T C 9: 49,508,688 E776G probably benign Het
Ndufv3 G A 17: 31,527,669 V178M probably damaging Het
Nlgn1 T C 3: 25,434,245 Y613C probably damaging Het
Nmbr T C 10: 14,760,687 probably benign Het
Orc1 T A 4: 108,595,479 W184R probably benign Het
Pde6b T C 5: 108,431,541 S850P probably benign Het
Pip5k1c C A 10: 81,317,321 probably null Het
Pnpt1 T C 11: 29,135,505 probably benign Het
Pomt2 T A 12: 87,124,862 H378L probably damaging Het
Sh3gl3 C T 7: 82,285,018 probably benign Het
Thsd7a A T 6: 12,408,985 N679K probably damaging Het
Tns2 T C 15: 102,111,415 M572T probably benign Het
Twf2 C T 9: 106,212,756 Q103* probably null Het
Uncx T C 5: 139,546,768 I196T possibly damaging Het
Urgcp A G 11: 5,717,400 S313P probably damaging Het
Vmn1r222 A T 13: 23,232,141 C301S possibly damaging Het
Vmn2r111 T A 17: 22,571,050 Q325L possibly damaging Het
Vps4a C T 8: 107,042,277 R236W probably damaging Het
Wdr19 T A 5: 65,223,581 H344Q probably damaging Het
Wiz A T 17: 32,359,469 D356E probably damaging Het
Zc3h10 T C 10: 128,544,882 E202G probably benign Het
Other mutations in 1700003E16Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01087:1700003E16Rik APN 6 83162788 splice site probably null
IGL03171:1700003E16Rik APN 6 83162395 missense possibly damaging 0.73
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 On2015-04-16