Incidental Mutation 'IGL03196:1700003E16Rik'
ID 412830
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700003E16Rik
Ensembl Gene ENSMUSG00000030030
Gene Name RIKEN cDNA 1700003E16 gene
Synonyms
Accession Numbers
Essential gene? Possibly essential (E-score: 0.665) question?
Stock # IGL03196
Quality Score
Status
Chromosome 6
Chromosomal Location 83133386-83139927 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83138045 bp (GRCm39)
Zygosity Heterozygous
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] [ENSMUST00000203203] [ENSMUST00000153148]
AlphaFold no structure available at present
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 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144723
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154625
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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck1 T C 12: 88,397,885 (GRCm39) V173A probably damaging Het
Adgrv1 C A 13: 81,594,597 (GRCm39) R4139L probably benign Het
Aqp4 T G 18: 15,526,566 (GRCm39) D305A probably benign Het
Cadm1 T C 9: 47,710,675 (GRCm39) S193P possibly damaging Het
Ccdc88a T C 11: 29,432,340 (GRCm39) S377P possibly damaging Het
Clic5 C A 17: 44,552,960 (GRCm39) H71Q possibly damaging Het
Col20a1 G A 2: 180,649,671 (GRCm39) probably null Het
Col5a1 A G 2: 27,865,610 (GRCm39) D759G unknown Het
Cplane1 A T 15: 8,230,826 (GRCm39) K1034N probably damaging Het
Cpt1b A G 15: 89,308,598 (GRCm39) V110A probably benign Het
Cts8 C T 13: 61,401,272 (GRCm39) G85S probably benign Het
Cul5 T A 9: 53,537,180 (GRCm39) M551L probably damaging Het
Eno1b T A 18: 48,180,558 (GRCm39) D245E probably damaging Het
Fgf1 A T 18: 38,975,028 (GRCm39) Y140* probably null Het
Flt1 A G 5: 147,551,937 (GRCm39) probably null Het
Fndc7 A G 3: 108,790,760 (GRCm39) Y89H probably damaging Het
Gm3127 A T 14: 15,432,259 (GRCm39) M254L probably benign Het
Gm5849 T C 3: 90,685,089 (GRCm39) E32G probably damaging Het
Gys1 T C 7: 45,104,241 (GRCm39) probably benign Het
H2ap A G X: 9,713,349 (GRCm39) Q27R possibly damaging Het
Hdgfl2 T C 17: 56,400,607 (GRCm39) V125A probably benign Het
Igkv6-32 C T 6: 70,051,042 (GRCm39) V105I probably benign Het
Lmo3 T C 6: 138,342,993 (GRCm39) T140A probably benign Het
Marf1 A G 16: 13,958,123 (GRCm39) V793A possibly damaging Het
Mep1b A C 18: 21,228,121 (GRCm39) I575L probably benign Het
Mtmr4 T A 11: 87,491,609 (GRCm39) I155N possibly damaging Het
Muc2 T C 7: 141,301,367 (GRCm39) F361L probably damaging Het
Ncoa7 T A 10: 30,523,510 (GRCm39) probably benign Het
Nme6 C T 9: 109,670,561 (GRCm39) R71W probably damaging Het
Or56b1b T C 7: 108,164,061 (GRCm39) S314G probably benign Het
Or9g4b G A 2: 85,616,365 (GRCm39) G170D possibly damaging Het
Or9m2 A T 2: 87,820,826 (GRCm39) I124F possibly damaging Het
Osbpl9 C T 4: 108,930,061 (GRCm39) V357I probably damaging Het
Ppp4r3a A G 12: 101,015,913 (GRCm39) probably benign Het
Rnf216 T C 5: 143,066,766 (GRCm39) R474G probably damaging Het
Rpp25l A G 4: 41,712,541 (GRCm39) V78A possibly damaging Het
Sh3bp2 C A 5: 34,714,687 (GRCm39) P245Q probably damaging Het
Slc33a1 A G 3: 63,871,151 (GRCm39) F154S possibly damaging Het
Wasf2 T A 4: 132,921,732 (GRCm39) S284T unknown Het
Wdtc1 T C 4: 133,022,648 (GRCm39) E566G probably damaging Het
Zcchc14 C T 8: 122,335,877 (GRCm39) probably benign Het
Other mutations in 1700003E16Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01087:1700003E16Rik APN 6 83,139,770 (GRCm39) splice site probably null
IGL02616:1700003E16Rik APN 6 83,138,644 (GRCm39) missense probably benign
IGL03171:1700003E16Rik APN 6 83,139,377 (GRCm39) missense possibly damaging 0.73
R0124:1700003E16Rik UTSW 6 83,138,656 (GRCm39) missense probably benign
R1081:1700003E16Rik UTSW 6 83,139,002 (GRCm39) missense probably benign
R1184:1700003E16Rik UTSW 6 83,137,894 (GRCm39) missense probably damaging 1.00
R1522:1700003E16Rik UTSW 6 83,139,568 (GRCm39) missense probably damaging 0.96
R4361:1700003E16Rik UTSW 6 83,139,688 (GRCm39) missense probably damaging 0.99
R4688:1700003E16Rik UTSW 6 83,139,680 (GRCm39) missense probably damaging 0.99
R5326:1700003E16Rik UTSW 6 83,138,336 (GRCm39) missense probably damaging 0.99
R6007:1700003E16Rik UTSW 6 83,137,900 (GRCm39) missense possibly damaging 0.80
R7212:1700003E16Rik UTSW 6 83,138,654 (GRCm39) missense probably benign 0.00
R7343:1700003E16Rik UTSW 6 83,139,353 (GRCm39) missense probably benign 0.12
R8081:1700003E16Rik UTSW 6 83,138,313 (GRCm39) missense probably damaging 1.00
R8121:1700003E16Rik UTSW 6 83,138,893 (GRCm39) missense probably benign
R9188:1700003E16Rik UTSW 6 83,139,230 (GRCm39) missense probably benign 0.12
R9329:1700003E16Rik UTSW 6 83,133,556 (GRCm39) start codon destroyed probably null 0.55
Z1176:1700003E16Rik UTSW 6 83,138,097 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02