Incidental Mutation 'R6896:Dync2i1'
ID 538351
Institutional Source Beutler Lab
Gene Symbol Dync2i1
Ensembl Gene ENSMUSG00000042050
Gene Name dynein 2 intermediate chain 1
Synonyms Dync2l1, D430033N04Rik, Wdr60
MMRRC Submission 044990-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6896 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 116169882-116226642 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 116193291 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 554 (G554R)
Ref Sequence ENSEMBL: ENSMUSP00000047334 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039349]
AlphaFold Q8C761
Predicted Effect possibly damaging
Transcript: ENSMUST00000039349
AA Change: G554R

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000047334
Gene: ENSMUSG00000042050
AA Change: G554R

DomainStartEndE-ValueType
coiled coil region 84 122 N/A INTRINSIC
low complexity region 168 193 N/A INTRINSIC
low complexity region 226 242 N/A INTRINSIC
coiled coil region 280 309 N/A INTRINSIC
low complexity region 319 337 N/A INTRINSIC
low complexity region 439 453 N/A INTRINSIC
WD40 629 668 2.77e-1 SMART
Blast:WD40 694 755 2e-7 BLAST
WD40 846 881 3.84e0 SMART
WD40 884 926 5.55e-1 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.3%
Validation Efficiency 98% (49/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) and may facilitate the formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. The encoded protein contains four WD repeats and may play a role in the formation of cilia. Mutations in this gene have been associated with short-rib polydactyly and Jeune syndromes. [provided by RefSeq, Mar 2014]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg2 T C 6: 58,660,298 (GRCm39) L454P probably damaging Het
Acadm T C 3: 153,641,957 (GRCm39) I192V probably damaging Het
Acadsb T A 7: 131,045,375 (GRCm39) Y436N probably benign Het
Ache G A 5: 137,289,996 (GRCm39) V442M probably damaging Het
Adam39 A T 8: 41,277,975 (GRCm39) N122I possibly damaging Het
Akap6 A T 12: 52,934,277 (GRCm39) I590F probably benign Het
Akap8 T C 17: 32,536,305 (GRCm39) N36S probably benign Het
Asap2 T C 12: 21,315,526 (GRCm39) S933P probably damaging Het
C3 C T 17: 57,527,864 (GRCm39) probably null Het
Cdon T A 9: 35,363,402 (GRCm39) M1K probably null Het
Cemip T A 7: 83,647,784 (GRCm39) I99F probably damaging Het
Cfap251 A G 5: 123,416,421 (GRCm39) T565A possibly damaging Het
Cfap58 T G 19: 47,932,626 (GRCm39) L130R probably damaging Het
Clca3a2 T C 3: 144,514,462 (GRCm39) D415G probably damaging Het
Coch A G 12: 51,649,652 (GRCm39) D321G possibly damaging Het
Efcab11 A G 12: 99,849,674 (GRCm39) probably benign Het
Ermap G T 4: 119,044,328 (GRCm39) S156* probably null Het
Fap G T 2: 62,334,944 (GRCm39) Y620* probably null Het
Galntl5 T C 5: 25,394,947 (GRCm39) probably null Het
Il21r C A 7: 125,226,128 (GRCm39) H76N probably damaging Het
Itpr1 T G 6: 108,458,355 (GRCm39) Y2041D probably damaging Het
Megf8 T A 7: 25,029,357 (GRCm39) N300K probably benign Het
Muc2 G A 7: 141,306,432 (GRCm39) V285I possibly damaging Het
Myh15 A T 16: 48,933,434 (GRCm39) Q623L probably benign Het
Myh7b T C 2: 155,464,488 (GRCm39) probably null Het
Naaladl1 T A 19: 6,159,335 (GRCm39) probably null Het
Nlrp9b T G 7: 19,757,170 (GRCm39) F136V probably damaging Het
Oprd1 A T 4: 131,844,612 (GRCm39) M132K probably damaging Het
Or10a3b T C 7: 108,444,750 (GRCm39) T156A probably benign Het
Or4s2b A G 2: 88,508,340 (GRCm39) N47S probably damaging Het
Or6c70 A T 10: 129,710,623 (GRCm39) M1K probably null Het
Or9g4 A G 2: 85,505,277 (GRCm39) Y73H probably damaging Het
Patj T A 4: 98,314,287 (GRCm39) V369D possibly damaging Het
Pcdhb3 T C 18: 37,434,265 (GRCm39) L77P probably damaging Het
Pcf11 T C 7: 92,298,759 (GRCm39) D1259G probably damaging Het
Pdcl A T 2: 37,242,191 (GRCm39) H186Q probably damaging Het
Pdzd9 A T 7: 120,262,095 (GRCm39) *77R probably null Het
Reln C T 5: 22,104,177 (GRCm39) E3265K probably benign Het
Smg8 T C 11: 86,968,787 (GRCm39) T990A possibly damaging Het
Smok2a C T 17: 13,444,758 (GRCm39) H112Y probably benign Het
Spatc1l G A 10: 76,405,242 (GRCm39) R208H probably damaging Het
Taf7 T C 18: 37,775,733 (GRCm39) D278G possibly damaging Het
Vipas39 T C 12: 87,289,345 (GRCm39) N373S probably benign Het
Vmn2r78 C T 7: 86,571,558 (GRCm39) T456I probably benign Het
Vwf T C 6: 125,543,157 (GRCm39) S148P probably damaging Het
Xpot A C 10: 121,449,390 (GRCm39) probably null Het
Zdbf2 A T 1: 63,348,031 (GRCm39) R2137W probably damaging Het
Zfp462 T A 4: 55,009,544 (GRCm39) N503K possibly damaging Het
Zfp641 T A 15: 98,191,684 (GRCm39) M1L probably benign Het
Other mutations in Dync2i1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00586:Dync2i1 APN 12 116,205,400 (GRCm39) missense probably benign 0.01
IGL00668:Dync2i1 APN 12 116,221,048 (GRCm39) missense probably benign 0.32
IGL00914:Dync2i1 APN 12 116,196,223 (GRCm39) missense probably damaging 1.00
IGL01061:Dync2i1 APN 12 116,193,324 (GRCm39) missense probably benign 0.45
IGL01375:Dync2i1 APN 12 116,193,296 (GRCm39) missense possibly damaging 0.91
IGL01758:Dync2i1 APN 12 116,182,418 (GRCm39) missense possibly damaging 0.82
IGL01930:Dync2i1 APN 12 116,189,583 (GRCm39) critical splice donor site probably null
IGL02028:Dync2i1 APN 12 116,219,681 (GRCm39) missense probably benign 0.06
IGL03180:Dync2i1 APN 12 116,182,485 (GRCm39) missense probably benign 0.07
F5770:Dync2i1 UTSW 12 116,175,460 (GRCm39) missense possibly damaging 0.73
R0153:Dync2i1 UTSW 12 116,196,256 (GRCm39) missense probably benign 0.01
R0265:Dync2i1 UTSW 12 116,221,026 (GRCm39) splice site probably benign
R0364:Dync2i1 UTSW 12 116,221,097 (GRCm39) splice site probably benign
R0601:Dync2i1 UTSW 12 116,219,555 (GRCm39) missense possibly damaging 0.79
R0624:Dync2i1 UTSW 12 116,211,910 (GRCm39) missense probably damaging 0.98
R0755:Dync2i1 UTSW 12 116,175,412 (GRCm39) missense probably benign 0.01
R1023:Dync2i1 UTSW 12 116,196,277 (GRCm39) missense probably damaging 1.00
R1065:Dync2i1 UTSW 12 116,219,696 (GRCm39) missense probably damaging 0.98
R1543:Dync2i1 UTSW 12 116,195,404 (GRCm39) splice site probably benign
R1663:Dync2i1 UTSW 12 116,193,230 (GRCm39) missense probably benign 0.01
R1678:Dync2i1 UTSW 12 116,189,590 (GRCm39) missense probably damaging 1.00
R1719:Dync2i1 UTSW 12 116,219,532 (GRCm39) missense probably benign
R1755:Dync2i1 UTSW 12 116,189,649 (GRCm39) missense probably damaging 0.98
R1832:Dync2i1 UTSW 12 116,171,363 (GRCm39) missense probably damaging 0.99
R1918:Dync2i1 UTSW 12 116,196,221 (GRCm39) missense probably damaging 0.96
R2291:Dync2i1 UTSW 12 116,193,191 (GRCm39) splice site probably null
R2444:Dync2i1 UTSW 12 116,196,289 (GRCm39) missense possibly damaging 0.93
R3419:Dync2i1 UTSW 12 116,188,597 (GRCm39) missense probably benign 0.05
R3699:Dync2i1 UTSW 12 116,175,462 (GRCm39) nonsense probably null
R3700:Dync2i1 UTSW 12 116,175,462 (GRCm39) nonsense probably null
R4445:Dync2i1 UTSW 12 116,171,335 (GRCm39) missense probably damaging 1.00
R4664:Dync2i1 UTSW 12 116,219,831 (GRCm39) missense probably damaging 0.99
R4954:Dync2i1 UTSW 12 116,219,645 (GRCm39) missense probably damaging 1.00
R5057:Dync2i1 UTSW 12 116,177,033 (GRCm39) missense probably benign 0.43
R5163:Dync2i1 UTSW 12 116,219,486 (GRCm39) missense possibly damaging 0.76
R5341:Dync2i1 UTSW 12 116,219,534 (GRCm39) missense possibly damaging 0.51
R5560:Dync2i1 UTSW 12 116,181,733 (GRCm39) missense probably damaging 0.98
R5870:Dync2i1 UTSW 12 116,219,865 (GRCm39) missense possibly damaging 0.94
R5925:Dync2i1 UTSW 12 116,197,014 (GRCm39) missense possibly damaging 0.82
R6223:Dync2i1 UTSW 12 116,221,078 (GRCm39) missense possibly damaging 0.95
R6364:Dync2i1 UTSW 12 116,205,352 (GRCm39) missense probably damaging 1.00
R6450:Dync2i1 UTSW 12 116,210,347 (GRCm39) nonsense probably null
R6462:Dync2i1 UTSW 12 116,193,251 (GRCm39) missense probably benign
R6751:Dync2i1 UTSW 12 116,177,076 (GRCm39) missense possibly damaging 0.52
R6962:Dync2i1 UTSW 12 116,175,398 (GRCm39) missense probably damaging 1.00
R7033:Dync2i1 UTSW 12 116,175,511 (GRCm39) missense probably benign 0.03
R7042:Dync2i1 UTSW 12 116,218,061 (GRCm39) missense probably benign 0.02
R7254:Dync2i1 UTSW 12 116,226,205 (GRCm39) intron probably benign
R7567:Dync2i1 UTSW 12 116,218,130 (GRCm39) splice site probably null
R7889:Dync2i1 UTSW 12 116,219,559 (GRCm39) nonsense probably null
R8082:Dync2i1 UTSW 12 116,177,127 (GRCm39) critical splice acceptor site probably null
R8288:Dync2i1 UTSW 12 116,177,345 (GRCm39) missense probably damaging 1.00
R8309:Dync2i1 UTSW 12 116,219,705 (GRCm39) missense probably damaging 1.00
R8682:Dync2i1 UTSW 12 116,188,610 (GRCm39) missense probably damaging 1.00
R8683:Dync2i1 UTSW 12 116,193,262 (GRCm39) missense probably benign 0.03
R8699:Dync2i1 UTSW 12 116,171,321 (GRCm39) missense probably benign 0.01
R8782:Dync2i1 UTSW 12 116,205,332 (GRCm39) missense probably damaging 1.00
R8809:Dync2i1 UTSW 12 116,193,234 (GRCm39) missense probably damaging 0.98
R9281:Dync2i1 UTSW 12 116,211,677 (GRCm39) nonsense probably null
R9530:Dync2i1 UTSW 12 116,175,411 (GRCm39) missense possibly damaging 0.87
R9751:Dync2i1 UTSW 12 116,205,403 (GRCm39) critical splice acceptor site probably null
V7581:Dync2i1 UTSW 12 116,175,460 (GRCm39) missense possibly damaging 0.73
V7582:Dync2i1 UTSW 12 116,175,460 (GRCm39) missense possibly damaging 0.73
V7583:Dync2i1 UTSW 12 116,175,460 (GRCm39) missense possibly damaging 0.73
X0063:Dync2i1 UTSW 12 116,219,489 (GRCm39) missense probably benign
Z1177:Dync2i1 UTSW 12 116,209,719 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AATTCTGCAGGCATTGAGTGTTTC -3'
(R):5'- AGAAGTATGGCTTACCTTGGG -3'

Sequencing Primer
(F):5'- CAGAAAAAAAACCTCTTACTCTG -3'
(R):5'- CATCTGTGAACCATATGTGTGC -3'
Posted On 2018-11-06