Incidental Mutation 'IGL01087:1700003E16Rik'
ID 51279
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 # IGL01087
Quality Score
Status
Chromosome 6
Chromosomal Location 83133386-83139927 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 83139770 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115838 (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: Q565L

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000032106
Gene: ENSMUSG00000030030
AA Change: Q565L

DomainStartEndE-ValueType
Pfam:DUF4639 6 571 3.7e-266 PFAM
Predicted Effect probably null
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 null
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 null
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 C A 11: 110,082,476 (GRCm39) A1166S probably benign Het
Arhgdib C A 6: 136,910,622 (GRCm39) K46N probably damaging Het
Ash1l T A 3: 88,971,209 (GRCm39) V2507D probably damaging Het
B4galnt1 A T 10: 127,002,060 (GRCm39) I63F probably damaging Het
Bclaf1 A G 10: 20,201,056 (GRCm39) D394G probably damaging Het
Btbd10 T C 7: 112,915,763 (GRCm39) D442G probably damaging Het
Cd44 A T 2: 102,652,607 (GRCm39) L492H probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Chsy1 T G 7: 65,821,874 (GRCm39) V703G possibly damaging Het
Clrn2 T C 5: 45,621,311 (GRCm39) probably benign Het
Crtc3 T C 7: 80,248,487 (GRCm39) probably benign Het
Cul1 A G 6: 47,485,978 (GRCm39) T342A probably benign Het
Dgki T C 6: 36,989,846 (GRCm39) D631G probably damaging Het
Eif3b T C 5: 140,426,862 (GRCm39) I706T probably damaging Het
Fam120a A G 13: 49,055,549 (GRCm39) L713P probably damaging Het
I830077J02Rik C A 3: 105,836,049 (GRCm39) probably null Het
Jmjd8 A C 17: 26,048,145 (GRCm39) probably benign Het
Kmt5a T C 5: 124,589,443 (GRCm39) probably benign Het
Krt87 C A 15: 101,329,706 (GRCm39) C486F probably benign Het
Lrp2 A T 2: 69,354,417 (GRCm39) N470K probably damaging Het
Med1 C A 11: 98,071,111 (GRCm39) D79Y probably damaging Het
Myo1d A G 11: 80,573,261 (GRCm39) S189P probably damaging Het
Myo9a T A 9: 59,697,361 (GRCm39) Y381N possibly damaging Het
Nipbl C A 15: 8,379,981 (GRCm39) S937I possibly damaging Het
Nlrp4g A G 9: 124,353,858 (GRCm38) noncoding transcript Het
Nutm2 A G 13: 50,623,665 (GRCm39) T121A probably damaging Het
Opa1 C T 16: 29,405,815 (GRCm39) P127S probably damaging Het
Or2h1b C T 17: 37,462,332 (GRCm39) C177Y probably damaging Het
Pcdh15 A T 10: 74,178,464 (GRCm39) I574F possibly damaging Het
Pcnx1 G A 12: 82,042,113 (GRCm39) probably benign Het
Prex2 A G 1: 11,138,328 (GRCm39) T136A probably benign Het
Prph2 A G 17: 47,222,085 (GRCm39) T155A probably damaging Het
Rsl1d1 T C 16: 11,012,539 (GRCm39) K296E possibly damaging Het
Syne1 A T 10: 5,375,708 (GRCm39) I128N probably damaging Het
Tlk1 A T 2: 70,582,660 (GRCm39) N156K possibly damaging Het
Trem2 C T 17: 48,658,956 (GRCm39) T222I probably damaging Het
Trip12 A T 1: 84,735,580 (GRCm39) F872L probably damaging Het
Trrap T A 5: 144,783,349 (GRCm39) S3393T probably damaging Het
Vwa8 T A 14: 79,172,669 (GRCm39) S304T probably benign Het
Zc3h7a T C 16: 10,971,046 (GRCm39) T328A probably benign Het
Other mutations in 1700003E16Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-06-21