Incidental Mutation 'R0755:Dync2i1'
ID 70456
Institutional Source Beutler Lab
Gene Symbol Dync2i1
Ensembl Gene ENSMUSG00000042050
Gene Name dynein 2 intermediate chain 1
Synonyms Dync2l1, D430033N04Rik, Wdr60
MMRRC Submission 038935-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0755 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 116169882-116226642 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116175412 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 922 (I922V)
Ref Sequence ENSEMBL: ENSMUSP00000047334 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039349]
AlphaFold Q8C761
Predicted Effect probably benign
Transcript: ENSMUST00000039349
AA Change: I922V

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000047334
Gene: ENSMUSG00000042050
AA Change: I922V

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221748
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222539
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222764
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 93.8%
Validation Efficiency
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730061H03Rik A T 14: 55,797,638 (GRCm39) probably benign Het
Acin1 A G 14: 54,889,292 (GRCm39) M1T probably null Het
Akp3 G A 1: 87,055,593 (GRCm39) G547R unknown Het
Aldh1a1 A G 19: 20,595,358 (GRCm39) M96V probably benign Het
Ankfn1 T A 11: 89,282,913 (GRCm39) M245L probably benign Het
Arhgap19 T C 19: 41,769,614 (GRCm39) K54E probably damaging Het
Atp1a2 T C 1: 172,116,948 (GRCm39) Q223R probably benign Het
Atp8a2 C T 14: 60,247,330 (GRCm39) V557I possibly damaging Het
AU041133 A T 10: 81,986,724 (GRCm39) K126* probably null Het
Axin1 T A 17: 26,401,480 (GRCm39) Y351N possibly damaging Het
Baiap2l1 T C 5: 144,221,367 (GRCm39) K176E probably damaging Het
Baz2a C T 10: 127,955,560 (GRCm39) T848I possibly damaging Het
Bbs2 A C 8: 94,808,708 (GRCm39) V333G probably benign Het
BC051019 G A 7: 109,315,302 (GRCm39) Q318* probably null Het
Bltp1 T C 3: 37,000,513 (GRCm39) S1231P probably damaging Het
Cdc37 C T 9: 21,051,160 (GRCm39) D362N probably damaging Het
Cep170 A T 1: 176,583,319 (GRCm39) V1020E probably damaging Het
Chrm4 T C 2: 91,758,747 (GRCm39) V385A probably benign Het
Cntrl G A 2: 35,035,151 (GRCm39) S373N probably damaging Het
Col23a1 G A 11: 51,467,706 (GRCm39) G19D probably damaging Het
Cyb5r4 G T 9: 86,911,625 (GRCm39) A100S probably damaging Het
Dctn1 C T 6: 83,166,059 (GRCm39) P115S probably damaging Het
Dhrs2 C T 14: 55,472,247 (GRCm39) T46M probably damaging Het
Disp2 T C 2: 118,620,243 (GRCm39) F325S probably benign Het
Dnah11 T G 12: 117,918,564 (GRCm39) T3456P possibly damaging Het
Dnah11 C A 12: 118,162,360 (GRCm39) V70F probably benign Het
Duoxa1 T A 2: 122,135,161 (GRCm39) T195S probably benign Het
Eif2ak1 T A 5: 143,821,742 (GRCm39) F353I possibly damaging Het
Esam A G 9: 37,447,998 (GRCm39) T211A probably damaging Het
Faf1 A G 4: 109,819,036 (GRCm39) N636S probably benign Het
Fbxo25 A G 8: 13,985,219 (GRCm39) Y305C probably benign Het
Fchsd1 C T 18: 38,101,803 (GRCm39) probably null Het
Fdxacb1 T A 9: 50,683,025 (GRCm39) D329E possibly damaging Het
Gvin2 A T 7: 105,545,892 (GRCm39) F2387I possibly damaging Het
Hbq1b A T 11: 32,237,104 (GRCm39) probably null Het
Hmcn2 T A 2: 31,343,172 (GRCm39) V4566E probably damaging Het
Igkv6-29 G A 6: 70,116,053 (GRCm39) T5I probably benign Het
Itfg1 A T 8: 86,452,834 (GRCm39) D511E possibly damaging Het
Jmjd1c C T 10: 66,932,378 (GRCm39) probably benign Het
Kat6b T A 14: 21,687,661 (GRCm39) M570K probably damaging Het
Kdm4d T A 9: 14,375,591 (GRCm39) K89M probably damaging Het
Krt19 A T 11: 100,032,965 (GRCm39) D194E possibly damaging Het
Lamc1 A T 1: 153,123,196 (GRCm39) Y665N possibly damaging Het
Lct A T 1: 128,221,872 (GRCm39) S1556T possibly damaging Het
Macf1 A G 4: 123,263,719 (GRCm39) L4924P probably damaging Het
Mef2c G A 13: 83,804,472 (GRCm39) probably null Het
Mff G A 1: 82,728,326 (GRCm39) probably null Het
Mycbp2 A T 14: 103,412,230 (GRCm39) L2581Q probably damaging Het
Mylk G C 16: 34,699,845 (GRCm39) E403Q possibly damaging Het
Nos3 T A 5: 24,572,295 (GRCm39) L123M probably damaging Het
Ntn5 C T 7: 45,335,952 (GRCm39) P128S probably benign Het
Nudt9 T C 5: 104,212,920 (GRCm39) V331A probably damaging Het
Or2y3 A T 17: 38,393,085 (GRCm39) Y261* probably null Het
Or7g34 T C 9: 19,478,415 (GRCm39) I88M possibly damaging Het
Pcdh7 A T 5: 57,877,664 (GRCm39) K406N possibly damaging Het
Pkdrej T A 15: 85,700,336 (GRCm39) I1867L probably benign Het
Plppr4 C T 3: 117,116,319 (GRCm39) G455R possibly damaging Het
Pramel11 A G 4: 143,624,299 (GRCm39) V66A probably damaging Het
Prkag2 G C 5: 25,152,629 (GRCm39) S158R probably benign Het
Ptprq T G 10: 107,418,400 (GRCm39) T1659P probably benign Het
Rasl12 A G 9: 65,318,241 (GRCm39) K202E probably benign Het
Rb1 A C 14: 73,434,653 (GRCm39) *922G probably null Het
Rsf1 C T 7: 97,229,174 (GRCm39) P22S probably damaging Het
Scn1a T G 2: 66,151,379 (GRCm39) T797P probably damaging Het
Sgsm2 A G 11: 74,756,323 (GRCm39) V342A probably damaging Het
Slc22a7 T G 17: 46,749,113 (GRCm39) H68P possibly damaging Het
Slc4a2 G A 5: 24,640,575 (GRCm39) A652T probably benign Het
Slc5a1 T A 5: 33,290,733 (GRCm39) L106M probably benign Het
Slco1c1 C T 6: 141,477,258 (GRCm39) P19S probably damaging Het
Snx1 A G 9: 66,005,738 (GRCm39) F127S probably damaging Het
Snx31 A T 15: 36,534,576 (GRCm39) I199N probably damaging Het
Snx33 T C 9: 56,832,741 (GRCm39) I443V possibly damaging Het
Sptbn1 A G 11: 30,089,016 (GRCm39) F749L probably damaging Het
Stoml3 T A 3: 53,405,559 (GRCm39) Y53* probably null Het
Stxbp2 A G 8: 3,692,019 (GRCm39) T554A probably benign Het
Tal1 T C 4: 114,925,573 (GRCm39) I214T probably damaging Het
Tas2r140 T A 6: 40,468,344 (GRCm39) I58N probably damaging Het
Thap1 A G 8: 26,648,501 (GRCm39) Y8C probably damaging Het
Thsd7a A T 6: 12,555,368 (GRCm39) L172Q probably damaging Het
Ube3c T A 5: 29,842,740 (GRCm39) D735E probably damaging Het
Unc80 G A 1: 66,544,082 (GRCm39) D402N probably damaging Het
Upf1 G T 8: 70,786,779 (GRCm39) R902S probably benign Het
Urb1 A G 16: 90,570,982 (GRCm39) Y1276H probably damaging Het
Urb1 A T 16: 90,576,026 (GRCm39) F843L probably benign Het
Vmn1r198 C T 13: 22,539,402 (GRCm39) T296I probably benign Het
Vmn1r33 A T 6: 66,588,892 (GRCm39) S221T probably damaging Het
Vmn2r103 A G 17: 19,993,830 (GRCm39) D69G probably benign Het
Vmn2r14 T G 5: 109,364,226 (GRCm39) L563F possibly damaging Het
Vmn2r60 G A 7: 41,844,869 (GRCm39) G744D probably damaging Het
Vstm4 T C 14: 32,614,601 (GRCm39) V181A probably damaging Het
Wdr72 G A 9: 74,052,376 (GRCm39) V136I probably benign Het
Zfp236 T A 18: 82,638,457 (GRCm39) N1388Y probably damaging Het
Zfp53 T A 17: 21,728,839 (GRCm39) F291I probably damaging Het
Zfp944 A T 17: 22,558,889 (GRCm39) H119Q possibly damaging 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
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
R6896:Dync2i1 UTSW 12 116,193,291 (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'- ATGGCTTATGCCTCACATGTCCTG -3'
(R):5'- TGGCTGTTCAGATGGAAGCATCAG -3'

Sequencing Primer
(F):5'- GGTCCAAGTACATATAGGACCTCTG -3'
(R):5'- TGGAAGCATCAGGCTGCAC -3'
Posted On 2013-09-30