Incidental Mutation 'IGL00468:Dync1i1'
ID5484
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dync1i1
Ensembl Gene ENSMUSG00000029757
Gene Namedynein cytoplasmic 1 intermediate chain 1
SynonymsIC74, Dncic1, DIC
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.791) question?
Stock #IGL00468
Quality Score
Status
Chromosome6
Chromosomal Location5725639-6028039 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 5972135 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 468 (V468M)
Ref Sequence ENSEMBL: ENSMUSP00000111218 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115554] [ENSMUST00000115555] [ENSMUST00000115556] [ENSMUST00000115559]
Predicted Effect possibly damaging
Transcript: ENSMUST00000115554
AA Change: V459M

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000111216
Gene: ENSMUSG00000029757
AA Change: V459M

DomainStartEndE-ValueType
coiled coil region 1 44 N/A INTRINSIC
low complexity region 75 90 N/A INTRINSIC
Pfam:Dynein_IC2 105 137 3.1e-20 PFAM
low complexity region 143 150 N/A INTRINSIC
Blast:WD40 235 288 2e-26 BLAST
WD40 293 332 9.6e-2 SMART
WD40 339 382 8.91e-1 SMART
WD40 436 481 4.48e-2 SMART
WD40 484 524 6.19e-1 SMART
WD40 529 569 7.67e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115555
AA Change: V496M

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000111217
Gene: ENSMUSG00000029757
AA Change: V496M

DomainStartEndE-ValueType
coiled coil region 1 44 N/A INTRINSIC
low complexity region 92 107 N/A INTRINSIC
Pfam:Dynein_IC2 143 173 6.9e-18 PFAM
low complexity region 180 187 N/A INTRINSIC
Blast:WD40 272 325 4e-26 BLAST
WD40 330 369 9.6e-2 SMART
WD40 376 419 8.91e-1 SMART
WD40 473 518 4.48e-2 SMART
WD40 521 561 6.19e-1 SMART
WD40 566 606 7.67e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115556
AA Change: V468M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000111218
Gene: ENSMUSG00000029757
AA Change: V468M

DomainStartEndE-ValueType
coiled coil region 1 44 N/A INTRINSIC
Pfam:Dynein_IC2 114 146 9.2e-21 PFAM
low complexity region 152 159 N/A INTRINSIC
Blast:WD40 245 297 3e-26 BLAST
WD40 302 341 9.6e-2 SMART
WD40 348 391 8.91e-1 SMART
WD40 445 490 4.48e-2 SMART
WD40 493 533 6.19e-1 SMART
WD40 538 578 7.67e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115559
AA Change: V479M

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000111221
Gene: ENSMUSG00000029757
AA Change: V479M

DomainStartEndE-ValueType
coiled coil region 1 44 N/A INTRINSIC
low complexity region 75 90 N/A INTRINSIC
Pfam:Dynein_IC2 125 157 2e-20 PFAM
low complexity region 163 170 N/A INTRINSIC
Blast:WD40 256 308 3e-26 BLAST
WD40 313 352 9.6e-2 SMART
WD40 359 402 8.91e-1 SMART
WD40 456 501 4.48e-2 SMART
WD40 504 544 6.19e-1 SMART
WD40 549 589 7.67e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130004
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik A G 5: 3,580,453 E123G probably damaging Het
Alpk2 A T 18: 65,305,823 L1300Q probably benign Het
Armc9 T C 1: 86,198,339 Y51H probably damaging Het
Bcl11b A G 12: 107,965,815 V166A possibly damaging Het
Cfap70 T A 14: 20,412,462 D565V possibly damaging Het
Cops5 C A 1: 10,034,070 G132W probably damaging Het
Fam126b T G 1: 58,530,232 E396A probably benign Het
Fasn A C 11: 120,820,539 D216E probably damaging Het
Fktn T A 4: 53,734,866 I168K probably benign Het
Gal3st2c A G 1: 94,009,049 R239G probably benign Het
Glt6d1 A C 2: 25,811,029 L36R probably damaging Het
Herc3 A G 6: 58,918,766 I1000V probably benign Het
Kif14 G A 1: 136,469,018 S354N probably benign Het
Lhcgr C T 17: 88,742,446 V551I probably benign Het
Lmna G T 3: 88,484,684 S437R probably benign Het
Lrrc49 A G 9: 60,687,868 probably benign Het
Lrriq3 A G 3: 155,101,179 D155G probably damaging Het
Mcf2 G A X: 60,133,735 T104I probably damaging Het
Men1 G A 19: 6,337,207 probably null Het
Mipep A G 14: 60,875,260 E664G probably benign Het
Mybpc1 A T 10: 88,549,262 V519D probably damaging Het
Nfil3 C A 13: 52,967,574 L431F probably damaging Het
Sctr T A 1: 120,044,720 V197E probably damaging Het
Sesn2 T C 4: 132,499,813 T103A probably benign Het
Sptbn4 A T 7: 27,417,965 V453D probably damaging Het
Supt5 A T 7: 28,315,382 H1023Q probably benign Het
Tcof1 T C 18: 60,814,568 probably benign Het
Tekt2 T A 4: 126,323,189 E262D possibly damaging Het
Tenm4 T A 7: 96,874,472 H1732Q probably damaging Het
Tln2 T C 9: 67,344,187 D840G possibly damaging Het
Tox4 A G 14: 52,285,745 D54G probably damaging Het
Other mutations in Dync1i1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01816:Dync1i1 APN 6 5767146 critical splice donor site probably null
IGL02171:Dync1i1 APN 6 5969498 missense probably damaging 0.98
IGL02646:Dync1i1 APN 6 5767034 missense probably benign 0.12
IGL02672:Dync1i1 APN 6 5767034 missense probably benign 0.12
IGL02691:Dync1i1 APN 6 5800767 splice site probably benign
IGL02880:Dync1i1 APN 6 5966821 splice site probably null
IGL02796:Dync1i1 UTSW 6 5757385 missense probably benign 0.00
R0519:Dync1i1 UTSW 6 6027399 missense probably benign
R1404:Dync1i1 UTSW 6 5915876 missense probably damaging 1.00
R1404:Dync1i1 UTSW 6 5915876 missense probably damaging 1.00
R1499:Dync1i1 UTSW 6 5769799 splice site probably benign
R2119:Dync1i1 UTSW 6 5767096 missense probably damaging 0.97
R3177:Dync1i1 UTSW 6 5972211 critical splice donor site probably null
R3277:Dync1i1 UTSW 6 5972211 critical splice donor site probably null
R4028:Dync1i1 UTSW 6 5961842 missense probably damaging 1.00
R4058:Dync1i1 UTSW 6 5769764 missense probably damaging 0.99
R4551:Dync1i1 UTSW 6 5923206 missense probably benign 0.01
R4748:Dync1i1 UTSW 6 5767048 missense possibly damaging 0.66
R5263:Dync1i1 UTSW 6 5969446 missense possibly damaging 0.88
R6193:Dync1i1 UTSW 6 5730679 missense probably benign 0.03
R6280:Dync1i1 UTSW 6 5972084 missense probably benign 0.00
R6933:Dync1i1 UTSW 6 5913333 missense probably damaging 1.00
R7083:Dync1i1 UTSW 6 5969429 missense probably damaging 1.00
R7347:Dync1i1 UTSW 6 5784530 makesense probably null
R7512:Dync1i1 UTSW 6 5969410 missense possibly damaging 0.88
R7543:Dync1i1 UTSW 6 5784464 missense possibly damaging 0.93
R7601:Dync1i1 UTSW 6 5905129 missense probably benign 0.19
R8349:Dync1i1 UTSW 6 5966815 missense possibly damaging 0.88
R8449:Dync1i1 UTSW 6 5966815 missense possibly damaging 0.88
R8518:Dync1i1 UTSW 6 5913330 missense probably damaging 0.97
R8766:Dync1i1 UTSW 6 5767142 missense possibly damaging 0.57
X0010:Dync1i1 UTSW 6 5972141 missense probably benign 0.06
Z1177:Dync1i1 UTSW 6 5767057 missense probably benign
Posted On2012-04-20