Incidental Mutation 'R7212:1700003E16Rik'
ID 561138
Institutional Source Beutler Lab
Gene Symbol 1700003E16Rik
Ensembl Gene ENSMUSG00000030030
Gene Name RIKEN cDNA 1700003E16 gene
Synonyms
MMRRC Submission 045340-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.665) question?
Stock # R7212 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 83133386-83139927 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 83138654 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 193 (A193V)
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 probably benign
Transcript: ENSMUST00000032106
AA Change: A193V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000032106
Gene: ENSMUSG00000030030
AA Change: A193V

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 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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (70/70)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf C T 11: 84,340,006 (GRCm39) R435Q probably damaging Het
Abca13 A G 11: 9,248,854 (GRCm39) H2867R probably benign Het
Abcd2 C T 15: 91,043,326 (GRCm39) A621T possibly damaging Het
Actl11 T A 9: 107,805,856 (GRCm39) S60T probably damaging Het
Adam28 T A 14: 68,874,846 (GRCm39) N277I probably damaging Het
Adamts13 T A 2: 26,896,326 (GRCm39) C1240S probably damaging Het
Arhgap27 C T 11: 103,251,581 (GRCm39) R49Q probably damaging Het
Armc10 T C 5: 21,865,581 (GRCm39) S209P probably damaging Het
Atp6v0a1 T C 11: 100,934,783 (GRCm39) F617L probably benign Het
Bap1 T A 14: 30,973,580 (GRCm39) N2K probably damaging Het
Bltp1 C A 3: 37,102,158 (GRCm39) N1363K Het
Cass4 T A 2: 172,269,106 (GRCm39) L396* probably null Het
Ccdc40 A G 11: 119,155,270 (GRCm39) Q1170R probably damaging Het
Cdhr5 C T 7: 140,852,572 (GRCm39) R348H probably damaging Het
Cenpj A G 14: 56,790,109 (GRCm39) S647P probably benign Het
Chordc1 T A 9: 18,206,647 (GRCm39) probably null Het
Chordc1 T C 9: 18,212,308 (GRCm39) S41P probably damaging Het
Ckm T C 7: 19,148,978 (GRCm39) probably null Het
Clca3a1 A C 3: 144,711,727 (GRCm39) I756S probably damaging Het
Clcn1 T C 6: 42,268,323 (GRCm39) V165A possibly damaging Het
Clec4a4 T A 6: 122,968,704 (GRCm39) probably null Het
Cog7 T C 7: 121,576,537 (GRCm39) K130E probably damaging Het
Coq7 A G 7: 118,109,271 (GRCm39) I259T unknown Het
Cp T C 3: 20,029,130 (GRCm39) S536P probably damaging Het
Cyp2d10 T A 15: 82,288,447 (GRCm39) probably null Het
Dcst2 A G 3: 89,273,607 (GRCm39) I162V probably benign Het
Dennd4c A G 4: 86,721,228 (GRCm39) E630G probably damaging Het
Dpt A T 1: 164,624,484 (GRCm39) I62F probably benign Het
Ednrb T A 14: 104,080,444 (GRCm39) I157F probably damaging Het
Ext1 A T 15: 53,208,558 (GRCm39) W68R probably benign Het
Fgf4 A G 7: 144,416,523 (GRCm39) K152E probably benign Het
G530012D18Rik A T 1: 85,504,864 (GRCm39) T90S unknown Het
Galnt17 T C 5: 130,992,949 (GRCm39) T322A possibly damaging Het
Gcm1 A T 9: 77,966,925 (GRCm39) D48V possibly damaging Het
Gdi1 G A X: 73,350,461 (GRCm39) R55H probably benign Het
Gm49358 G T 10: 86,661,071 (GRCm39) R353L probably damaging Het
Golga4 A G 9: 118,365,908 (GRCm39) E320G possibly damaging Het
Herc3 T C 6: 58,895,758 (GRCm39) I1002T probably damaging Het
Hip1r T A 5: 124,111,845 (GRCm39) V7E possibly damaging Het
Hipk1 G A 3: 103,684,926 (GRCm39) Q230* probably null Het
Igsf9b C T 9: 27,242,992 (GRCm39) P726L probably damaging Het
Itgb6 T C 2: 60,464,998 (GRCm39) I345V probably damaging Het
Lhx4 G T 1: 155,600,699 (GRCm39) Q29K probably benign Het
Manba A G 3: 135,273,396 (GRCm39) T777A probably benign Het
Mcm3ap A G 10: 76,337,145 (GRCm39) D1360G probably benign Het
Meltf T A 16: 31,709,632 (GRCm39) probably null Het
Mmp14 T G 14: 54,673,336 (GRCm39) D81E probably damaging Het
Naalad2 T C 9: 18,275,337 (GRCm39) probably null Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Or7a38 A T 10: 78,753,339 (GRCm39) I222L possibly damaging Het
Or8b35 T A 9: 37,904,253 (GRCm39) M150K possibly damaging Het
Pacs2 A G 12: 113,025,312 (GRCm39) D488G possibly damaging Het
Prr5 T G 15: 84,629,993 (GRCm39) L108R probably null Het
Psg23 A G 7: 18,341,064 (GRCm39) S397P probably benign Het
Rfpl4 C A 7: 5,113,659 (GRCm39) R174L probably damaging Het
Runx3 T A 4: 134,880,090 (GRCm39) I3N probably damaging Het
Scn5a A T 9: 119,372,451 (GRCm39) N214K possibly damaging Het
Slc27a1 T C 8: 72,037,092 (GRCm39) I412T probably damaging Het
Sptbn4 T G 7: 27,116,210 (GRCm39) T530P probably benign Het
Tex15 A T 8: 34,060,854 (GRCm39) R95* probably null Het
Tex15 T C 8: 34,063,023 (GRCm39) S818P probably damaging Het
Tmod1 A T 4: 46,093,951 (GRCm39) K221* probably null Het
Tpm3 G A 3: 89,998,361 (GRCm39) D272N probably benign Het
Trpm6 T C 19: 18,831,155 (GRCm39) V1340A probably benign Het
Ugt2b5 A T 5: 87,273,131 (GRCm39) C512S probably benign Het
Vmn2r82 A T 10: 79,215,268 (GRCm39) E417V probably benign Het
Wfdc11 T C 2: 164,506,366 (GRCm39) N60S probably benign Het
Zfp217 A T 2: 169,956,072 (GRCm39) S975R probably benign Het
Zfr C T 15: 12,146,309 (GRCm39) Q287* probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- AAGTAAGCCCAAGCCCTGAG -3'
(R):5'- TGAAGACGGACTACTTGGGG -3'

Sequencing Primer
(F):5'- TGAGCCTCTTCCCGACAGAAG -3'
(R):5'- CTACTTGGGGCTGCTTCAGAGAAG -3'
Posted On 2019-06-26