Incidental Mutation 'R6280:Dync1i1'
ID 507894
Institutional Source Beutler Lab
Gene Symbol Dync1i1
Ensembl Gene ENSMUSG00000029757
Gene Name dynein cytoplasmic 1 intermediate chain 1
Synonyms DIC, IC74, Dncic1
MMRRC Submission 044450-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.831) question?
Stock # R6280 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 5725772-6028030 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 5972084 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 442 (V442I)
Ref Sequence ENSEMBL: ENSMUSP00000111216 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115554] [ENSMUST00000115555] [ENSMUST00000115556] [ENSMUST00000115559]
AlphaFold O88485
Predicted Effect probably benign
Transcript: ENSMUST00000115554
AA Change: V442I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000111216
Gene: ENSMUSG00000029757
AA Change: V442I

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: V479I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000111217
Gene: ENSMUSG00000029757
AA Change: V479I

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 benign
Transcript: ENSMUST00000115556
AA Change: V451I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000111218
Gene: ENSMUSG00000029757
AA Change: V451I

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: V462I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000111221
Gene: ENSMUSG00000029757
AA Change: V462I

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
Meta Mutation Damage Score 0.0585 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (75/75)
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 C T 1: 71,311,619 (GRCm39) D1930N probably benign Het
Adam8 A G 7: 139,564,720 (GRCm39) L667S probably damaging Het
Adcy4 A T 14: 56,016,500 (GRCm39) I317N probably damaging Het
Agpat3 A G 10: 78,120,872 (GRCm39) F102S probably damaging Het
Apbb2 A T 5: 66,522,325 (GRCm39) W443R probably damaging Het
BC049715 T A 6: 136,817,229 (GRCm39) Y156* probably null Het
Bpifc C T 10: 85,813,576 (GRCm39) V323I probably benign Het
Camp T G 9: 109,676,577 (GRCm39) I149L probably benign Het
Cfap20dc T G 14: 8,473,414 (GRCm38) probably null Het
Cibar2 A G 8: 120,898,858 (GRCm39) I94T possibly damaging Het
Cnih1 A G 14: 47,025,634 (GRCm39) probably null Het
Col18a1 A T 10: 76,948,323 (GRCm39) probably benign Het
Dsg4 A T 18: 20,599,724 (GRCm39) D780V probably damaging Het
Fam83g G T 11: 61,594,008 (GRCm39) S514I probably benign Het
Fbxo7 A G 10: 85,864,969 (GRCm39) N93D probably benign Het
Fgf20 G T 8: 40,734,153 (GRCm39) S76* probably null Het
Foxi1 A G 11: 34,157,972 (GRCm39) F18L probably damaging Het
Fxr1 G A 3: 34,100,401 (GRCm39) probably benign Het
Gon4l T A 3: 88,798,195 (GRCm39) L800H probably damaging Het
Gpn3 T A 5: 122,512,022 (GRCm39) S33T probably benign Het
Gria4 T C 9: 4,456,072 (GRCm39) M743V probably damaging Het
Hira A G 16: 18,729,457 (GRCm39) N109D probably damaging Het
Hsd3b3 A G 3: 98,660,621 (GRCm39) probably null Het
Hsf2 T G 10: 57,387,591 (GRCm39) S370A probably benign Het
Htt T A 5: 35,028,103 (GRCm39) D1786E probably benign Het
Ifit1bl2 T A 19: 34,597,534 (GRCm39) R27S possibly damaging Het
Il17rb G A 14: 29,724,928 (GRCm39) A186V probably benign Het
Irak4 G T 15: 94,449,691 (GRCm39) E57* probably null Het
Kcnh2 T A 5: 24,536,921 (GRCm39) H221L probably benign Het
Kdm2b T C 5: 123,016,687 (GRCm39) N1149D probably damaging Het
Kif26a A G 12: 112,141,303 (GRCm39) H702R probably damaging Het
Kmt2e T C 5: 23,704,514 (GRCm39) S1236P possibly damaging Het
Krt77 T A 15: 101,773,910 (GRCm39) D248V probably damaging Het
Lgals3bp T C 11: 118,284,106 (GRCm39) N52S possibly damaging Het
Lhfpl6 T C 3: 53,167,935 (GRCm39) Y170H probably damaging Het
Lpin2 A G 17: 71,539,243 (GRCm39) probably benign Het
Lrig3 T C 10: 125,846,848 (GRCm39) I872T probably benign Het
Lrit3 T C 3: 129,582,412 (GRCm39) E525G probably damaging Het
Lrp1 T C 10: 127,425,453 (GRCm39) T726A probably benign Het
Mep1a A T 17: 43,813,283 (GRCm39) N46K probably damaging Het
Muc16 C A 9: 18,490,613 (GRCm39) probably null Het
N4bp1 A C 8: 87,579,794 (GRCm39) N669K possibly damaging Het
Nelfcd A G 2: 174,257,739 (GRCm39) D26G probably benign Het
Neu4 G A 1: 93,952,873 (GRCm39) S414N probably damaging Het
Nudt9 A G 5: 104,212,935 (GRCm39) D336G probably benign Het
Obscn C A 11: 58,954,509 (GRCm39) G3691V possibly damaging Het
Or4c52 A C 2: 89,845,393 (GRCm39) I40L possibly damaging Het
Or5t17 A G 2: 86,832,364 (GRCm39) N17S probably damaging Het
Pdgfd T A 9: 6,288,627 (GRCm39) S94T probably benign Het
Picalm A G 7: 89,826,770 (GRCm39) H290R probably benign Het
Pou2f3 A T 9: 43,050,634 (GRCm39) L242Q probably damaging Het
Pou2f3 G T 9: 43,050,635 (GRCm39) L242M probably damaging Het
Prkd3 C T 17: 79,289,360 (GRCm39) G187D probably damaging Het
Pwp1 A G 10: 85,710,326 (GRCm39) S49G probably damaging Het
Ralgapa2 A G 2: 146,184,129 (GRCm39) L1626P probably damaging Het
Resf1 T C 6: 149,228,555 (GRCm39) S534P probably damaging Het
Rin2 A G 2: 145,702,939 (GRCm39) Y545C probably damaging Het
Rwdd4a A G 8: 47,995,832 (GRCm39) T71A probably benign Het
Senp7 T C 16: 55,982,738 (GRCm39) F504L possibly damaging Het
Slc12a6 A G 2: 112,167,703 (GRCm39) T231A probably damaging Het
Slc13a2 CGTTATCTGT CGT 11: 78,294,306 (GRCm39) probably benign Het
Slc34a1 A G 13: 24,006,377 (GRCm39) S468G probably benign Het
Slc4a10 A G 2: 62,112,310 (GRCm39) N697S probably benign Het
Spint1 T A 2: 119,075,759 (GRCm39) V194E possibly damaging Het
Sptlc2 A T 12: 87,434,905 (GRCm39) M14K probably benign Het
Stard9 A G 2: 120,531,608 (GRCm39) K2622E probably benign Het
Tbc1d5 T C 17: 51,089,338 (GRCm39) N614S probably benign Het
Tdpoz2 A T 3: 93,559,190 (GRCm39) C261S probably benign Het
Tmem150b A T 7: 4,727,373 (GRCm39) I44N probably benign Het
Ttn A G 2: 76,608,502 (GRCm39) L17807P probably damaging Het
Vcan G A 13: 89,873,492 (GRCm39) R121W probably damaging Het
Vmn2r15 T A 5: 109,441,291 (GRCm39) H189L possibly damaging Het
Vmn2r19 A G 6: 123,313,212 (GRCm39) S761G probably benign Het
Wdr11 A T 7: 129,200,830 (GRCm39) K34* probably null Het
Zfp120 A T 2: 149,959,964 (GRCm39) S141R possibly damaging Het
Zfp462 C G 4: 55,010,253 (GRCm39) P740A probably benign Het
Other mutations in Dync1i1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00468:Dync1i1 APN 6 5,972,135 (GRCm39) missense probably damaging 1.00
IGL01816:Dync1i1 APN 6 5,767,146 (GRCm39) critical splice donor site probably null
IGL02171:Dync1i1 APN 6 5,969,498 (GRCm39) missense probably damaging 0.98
IGL02646:Dync1i1 APN 6 5,767,034 (GRCm39) missense probably benign 0.12
IGL02672:Dync1i1 APN 6 5,767,034 (GRCm39) missense probably benign 0.12
IGL02691:Dync1i1 APN 6 5,800,767 (GRCm39) splice site probably benign
IGL02880:Dync1i1 APN 6 5,966,821 (GRCm39) splice site probably null
IGL02796:Dync1i1 UTSW 6 5,757,385 (GRCm39) missense probably benign 0.00
R0519:Dync1i1 UTSW 6 6,027,399 (GRCm39) missense probably benign
R1404:Dync1i1 UTSW 6 5,915,876 (GRCm39) missense probably damaging 1.00
R1404:Dync1i1 UTSW 6 5,915,876 (GRCm39) missense probably damaging 1.00
R1499:Dync1i1 UTSW 6 5,769,799 (GRCm39) splice site probably benign
R2119:Dync1i1 UTSW 6 5,767,096 (GRCm39) missense probably damaging 0.97
R3177:Dync1i1 UTSW 6 5,972,211 (GRCm39) critical splice donor site probably null
R3277:Dync1i1 UTSW 6 5,972,211 (GRCm39) critical splice donor site probably null
R4028:Dync1i1 UTSW 6 5,961,842 (GRCm39) missense probably damaging 1.00
R4058:Dync1i1 UTSW 6 5,769,764 (GRCm39) missense probably damaging 0.99
R4551:Dync1i1 UTSW 6 5,923,206 (GRCm39) missense probably benign 0.01
R4748:Dync1i1 UTSW 6 5,767,048 (GRCm39) missense possibly damaging 0.66
R5263:Dync1i1 UTSW 6 5,969,446 (GRCm39) missense possibly damaging 0.88
R6193:Dync1i1 UTSW 6 5,730,679 (GRCm39) missense probably benign 0.03
R6933:Dync1i1 UTSW 6 5,913,333 (GRCm39) missense probably damaging 1.00
R7083:Dync1i1 UTSW 6 5,969,429 (GRCm39) missense probably damaging 1.00
R7347:Dync1i1 UTSW 6 5,784,530 (GRCm39) makesense probably null
R7512:Dync1i1 UTSW 6 5,969,410 (GRCm39) missense possibly damaging 0.88
R7543:Dync1i1 UTSW 6 5,784,464 (GRCm39) missense possibly damaging 0.93
R7601:Dync1i1 UTSW 6 5,905,129 (GRCm39) missense probably benign 0.19
R8349:Dync1i1 UTSW 6 5,966,815 (GRCm39) missense possibly damaging 0.88
R8449:Dync1i1 UTSW 6 5,966,815 (GRCm39) missense possibly damaging 0.88
R8518:Dync1i1 UTSW 6 5,913,330 (GRCm39) missense probably damaging 0.97
R8766:Dync1i1 UTSW 6 5,767,142 (GRCm39) missense possibly damaging 0.57
R9242:Dync1i1 UTSW 6 5,769,706 (GRCm39) missense probably benign
R9253:Dync1i1 UTSW 6 5,769,698 (GRCm39) missense probably benign 0.00
R9375:Dync1i1 UTSW 6 5,913,443 (GRCm39) missense possibly damaging 0.94
X0010:Dync1i1 UTSW 6 5,972,141 (GRCm39) missense probably benign 0.06
Z1177:Dync1i1 UTSW 6 5,767,057 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TCTGCAAGACCACAGGAAATAG -3'
(R):5'- AAACATCCTCTCCCGCTGTG -3'

Sequencing Primer
(F):5'- CTCGAGATTTCTTAAGCATCAATGTC -3'
(R):5'- GTCCTGTGGAGCAGTTTCTATCAAG -3'
Posted On 2018-03-15