Incidental Mutation 'IGL03196:1700003E16Rik'
ID412830
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: 0.585) question?
Stock #IGL03196
Quality Score
Status
Chromosome6
Chromosomal Location83156404-83162945 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 83161063 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 57 (V57A)
Ref Sequence ENSEMBL: ENSMUSP00000145406 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032106] [ENSMUST00000077407] [ENSMUST00000113913] [ENSMUST00000125894] [ENSMUST00000130212] [ENSMUST00000153148] [ENSMUST00000203203]
Predicted Effect probably damaging
Transcript: ENSMUST00000032106
AA Change: V57A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000032106
Gene: ENSMUSG00000030030
AA Change: V57A

DomainStartEndE-ValueType
Pfam:DUF4639 6 571 3.7e-266 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000032108
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: ENSMUST00000125894
SMART Domains Protein: ENSMUSP00000122873
Gene: ENSMUSG00000030032

DomainStartEndE-ValueType
low complexity region 12 22 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: ENSMUST00000144723
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146969
Predicted Effect probably benign
Transcript: ENSMUST00000153148
SMART Domains Protein: ENSMUSP00000116608
Gene: ENSMUSG00000030032

DomainStartEndE-ValueType
low complexity region 12 22 N/A INTRINSIC
WD40 153 197 5.92e1 SMART
WD40 201 238 3.55e1 SMART
WD40 241 280 1.79e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154625
Predicted Effect probably damaging
Transcript: ENSMUST00000203203
AA Change: V57A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145406
Gene: ENSMUSG00000030030
AA Change: V57A

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A T 15: 8,201,342 K1034N probably damaging Het
Adck1 T C 12: 88,431,115 V173A probably damaging Het
Adgrv1 C A 13: 81,446,478 R4139L probably benign Het
Aqp4 T G 18: 15,393,509 D305A probably benign Het
Cadm1 T C 9: 47,799,377 S193P possibly damaging Het
Ccdc88a T C 11: 29,482,340 S377P possibly damaging Het
Clic5 C A 17: 44,242,073 H71Q possibly damaging Het
Col20a1 G A 2: 181,007,878 probably null Het
Col5a1 A G 2: 27,975,598 D759G unknown Het
Cpt1b A G 15: 89,424,395 V110A probably benign Het
Cts8 C T 13: 61,253,458 G85S probably benign Het
Cul5 T A 9: 53,625,880 M551L probably damaging Het
Eno1b T A 18: 48,047,491 D245E probably damaging Het
Fgf1 A T 18: 38,841,975 Y140* probably null Het
Flt1 A G 5: 147,615,127 probably null Het
Fndc7 A G 3: 108,883,444 Y89H probably damaging Het
Gm3127 A T 14: 4,172,510 M254L probably benign Het
Gm5849 T C 3: 90,777,782 E32G probably damaging Het
Gys1 T C 7: 45,454,817 probably benign Het
Hdgfl2 T C 17: 56,093,607 V125A probably benign Het
Hypm A G X: 9,847,110 Q27R possibly damaging Het
Igkv6-32 C T 6: 70,074,058 V105I probably benign Het
Lmo3 T C 6: 138,365,995 T140A probably benign Het
Marf1 A G 16: 14,140,259 V793A possibly damaging Het
Mep1b A C 18: 21,095,064 I575L probably benign Het
Mtmr4 T A 11: 87,600,783 I155N possibly damaging Het
Muc2 T C 7: 141,747,630 F361L probably damaging Het
Ncoa7 T A 10: 30,647,514 probably benign Het
Nme6 C T 9: 109,841,493 R71W probably damaging Het
Olfr1015 G A 2: 85,786,021 G170D possibly damaging Het
Olfr1158 A T 2: 87,990,482 I124F possibly damaging Het
Olfr504 T C 7: 108,564,854 S314G probably benign Het
Osbpl9 C T 4: 109,072,864 V357I probably damaging Het
Ppp4r3a A G 12: 101,049,654 probably benign Het
Rnf216 T C 5: 143,081,011 R474G probably damaging Het
Rpp25l A G 4: 41,712,541 V78A possibly damaging Het
Sh3bp2 C A 5: 34,557,343 P245Q probably damaging Het
Slc33a1 A G 3: 63,963,730 F154S possibly damaging Het
Wasf2 T A 4: 133,194,421 S284T unknown Het
Wdtc1 T C 4: 133,295,337 E566G probably damaging Het
Zcchc14 C T 8: 121,609,138 probably benign 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
IGL03171:1700003E16Rik APN 6 83162395 missense possibly damaging 0.73
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