Incidental Mutation 'IGL03171:1700003E16Rik'
ID 411826
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 # IGL03171
Quality Score
Status
Chromosome 6
Chromosomal Location 83133386-83139927 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 83139377 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold no structure available at present
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: 46,029,681 (GRCm39) A709S probably damaging Het
Adgrf3 A T 5: 30,401,292 (GRCm39) L42Q probably damaging Het
D430041D05Rik T C 2: 104,071,508 (GRCm39) N1264S possibly damaging Het
Dnah9 T G 11: 65,872,067 (GRCm39) K2721T probably benign Het
Efr3b C T 12: 4,018,622 (GRCm39) A575T probably benign Het
Esco1 T C 18: 10,594,263 (GRCm39) E341G probably damaging Het
Ezh2 G A 6: 47,517,715 (GRCm39) R574* probably null Het
Fam169a G T 13: 97,246,522 (GRCm39) probably benign Het
Fry T C 5: 150,304,274 (GRCm39) Y555H probably damaging Het
Gm17175 A C 14: 51,809,065 (GRCm39) S100R probably damaging Het
Gm527 T C 12: 64,967,931 (GRCm39) Y118H probably damaging Het
H2-M10.4 G T 17: 36,772,142 (GRCm39) T202N probably damaging Het
Ift70a1 C T 2: 75,810,851 (GRCm39) A411T probably benign Het
Igf1 A T 10: 87,700,683 (GRCm39) T36S probably damaging Het
Ints8 C T 4: 11,231,702 (GRCm39) V428I probably benign Het
Itga6 G A 2: 71,671,673 (GRCm39) probably null Het
Jmjd1c A G 10: 67,061,277 (GRCm39) E1210G possibly damaging Het
Kdm2a A T 19: 4,406,792 (GRCm39) V134E probably damaging Het
Limch1 C A 5: 67,191,537 (GRCm39) N947K possibly damaging Het
Met T C 6: 17,562,272 (GRCm39) probably benign Het
Neb A G 2: 52,106,376 (GRCm39) probably benign Het
Ogg1 A G 6: 113,310,375 (GRCm39) I274V possibly damaging Het
Ola1 A T 2: 72,987,197 (GRCm39) I145K probably benign Het
Or2r11 G A 6: 42,437,464 (GRCm39) T163I possibly damaging Het
Pacrg A G 17: 10,795,462 (GRCm39) V166A possibly damaging Het
Pira2 T A 7: 3,845,604 (GRCm39) E260V probably damaging Het
Prickle3 T C X: 7,531,526 (GRCm39) C277R probably damaging Het
Psen1 A G 12: 83,761,638 (GRCm39) T147A probably damaging Het
Pxk C T 14: 8,151,014 (GRCm38) probably benign Het
Scn11a G A 9: 119,648,913 (GRCm39) P50L probably benign Het
Scn4a C A 11: 106,236,418 (GRCm39) V281L probably benign Het
Shcbp1 A G 8: 4,789,166 (GRCm39) I551T probably benign Het
Snx13 T A 12: 35,150,539 (GRCm39) I281N probably benign Het
Spata31e4 T A 13: 50,856,388 (GRCm39) S675R probably benign Het
Spopfm1 C A 3: 94,173,762 (GRCm39) H257N probably benign Het
Tdo2 T C 3: 81,874,336 (GRCm39) K209E probably benign Het
Trip6 C T 5: 137,311,146 (GRCm39) R190Q probably benign Het
Ubqln1 T A 13: 58,328,672 (GRCm39) E426D probably damaging Het
Zfp607b C A 7: 27,393,020 (GRCm39) N49K possibly damaging 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
IGL03196:1700003E16Rik APN 6 83,138,045 (GRCm39) missense probably damaging 1.00
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