Incidental Mutation 'R8483:Drc1'
ID 657614
Institutional Source Beutler Lab
Gene Symbol Drc1
Ensembl Gene ENSMUSG00000073102
Gene Name dynein regulatory complex subunit 1
Synonyms Gm1060, Ccdc164, b2b1654Clo, LOC381738
MMRRC Submission 067927-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8483 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 30486386-30524039 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 30507785 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 269 (Y269F)
Ref Sequence ENSEMBL: ENSMUSP00000098992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101448]
AlphaFold Q3USS3
Predicted Effect probably benign
Transcript: ENSMUST00000101448
AA Change: Y269F

PolyPhen 2 Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000098992
Gene: ENSMUSG00000073102
AA Change: Y269F

DomainStartEndE-ValueType
low complexity region 33 55 N/A INTRINSIC
low complexity region 62 79 N/A INTRINSIC
Pfam:NYD-SP28 100 200 1.7e-33 PFAM
coiled coil region 280 318 N/A INTRINSIC
low complexity region 455 473 N/A INTRINSIC
low complexity region 559 569 N/A INTRINSIC
low complexity region 599 612 N/A INTRINSIC
Pfam:NYD-SP28_assoc 673 732 2.2e-25 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (54/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a central component of the nexin-dynein complex (N-DRC), which regulates the assembly of ciliary dynein. Mutations in this gene can cause ciliary dyskinesia. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for ENU-induced mutations exhibit heterotaxy with complex congenital heart disease such as transposition of the great arteries (TGA), atrioventricular septal defects (AVSD), and vein abnormalities; immotile/dyskinetic airway cilia are also seen. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ang6 A G 14: 44,239,285 (GRCm39) *148Q probably null Het
Ankrd28 A T 14: 31,457,048 (GRCm39) probably null Het
Ark2c G A 18: 77,556,034 (GRCm39) A174V probably benign Het
Aurkc T A 7: 6,999,664 (GRCm39) L57* probably null Het
Brca1 T C 11: 101,416,802 (GRCm39) D444G probably damaging Het
Cd200l1 T A 16: 45,240,235 (GRCm39) I134F possibly damaging Het
Cdhr4 T C 9: 107,872,198 (GRCm39) V204A probably damaging Het
Chd7 A G 4: 8,822,412 (GRCm39) D835G possibly damaging Het
Cux1 C A 5: 136,303,944 (GRCm39) A1328S possibly damaging Het
Cwc27 G T 13: 104,940,772 (GRCm39) P196T probably benign Het
Cwc27 C A 13: 104,940,776 (GRCm39) L194F possibly damaging Het
Cyp39a1 A G 17: 43,993,898 (GRCm39) D186G probably benign Het
Dnah3 T C 7: 119,536,253 (GRCm39) I3677V probably benign Het
Dnmt3b A G 2: 153,516,306 (GRCm39) D477G probably damaging Het
Esco2 T C 14: 66,069,118 (GRCm39) H64R probably benign Het
Gcnt3 A T 9: 69,941,959 (GRCm39) V203E probably damaging Het
Gpam A C 19: 55,077,374 (GRCm39) V139G probably damaging Het
Gsta3 G A 1: 21,333,063 (GRCm39) S104N probably damaging Het
Hsd17b13 C T 5: 104,125,049 (GRCm39) G45R probably damaging Het
Ighe T C 12: 113,235,808 (GRCm39) M173V Het
Ipo5 A G 14: 121,183,560 (GRCm39) E1046G probably benign Het
Kank4 T A 4: 98,659,615 (GRCm39) Q821L probably damaging Het
Kat6b G T 14: 21,719,461 (GRCm39) S1271I probably damaging Het
Klhl1 A G 14: 96,619,370 (GRCm39) S176P probably benign Het
Lbhd2 G A 12: 111,378,190 (GRCm39) D86N probably damaging Het
Lrp1 G A 10: 127,394,519 (GRCm39) R2565C probably damaging Het
Lrrc55 A T 2: 85,022,295 (GRCm39) C299S probably benign Het
Mtres1 T C 10: 43,408,915 (GRCm39) Y76C probably benign Het
Nprl3 T A 11: 32,213,083 (GRCm39) S44C probably damaging Het
Nucks1 A G 1: 131,855,829 (GRCm39) H86R possibly damaging Het
Or14j3 A G 17: 37,900,866 (GRCm39) V126A possibly damaging Het
Or4s2 A G 2: 88,473,678 (GRCm39) D189G probably benign Het
Or6c219 T A 10: 129,780,998 (GRCm39) H311L probably benign Het
Ovgp1 T A 3: 105,894,311 (GRCm39) probably benign Het
Oxa1l G A 14: 54,606,001 (GRCm39) probably null Het
Patj C A 4: 98,312,539 (GRCm39) H292Q probably damaging Het
Pcdha9 A G 18: 37,131,636 (GRCm39) N235S probably benign Het
Pcdhb12 A T 18: 37,570,590 (GRCm39) T579S possibly damaging Het
Pde3b A G 7: 114,118,803 (GRCm39) I647M probably benign Het
Pdp1 T C 4: 11,961,982 (GRCm39) R110G probably benign Het
Prb1a T G 6: 132,185,398 (GRCm39) R78S unknown Het
Prmt8 A C 6: 127,680,976 (GRCm39) probably null Het
Semp2l2a T A 8: 13,888,229 (GRCm39) probably benign Het
Slc35f2 T A 9: 53,716,985 (GRCm39) Y249* probably null Het
Smok2b A C 17: 13,453,908 (GRCm39) M23L probably benign Het
Sra1 A G 18: 36,800,879 (GRCm39) I153T probably benign Het
Stk38l T A 6: 146,660,017 (GRCm39) H16Q possibly damaging Het
Tent5c T A 3: 100,379,784 (GRCm39) H324L probably damaging Het
Unc80 T C 1: 66,732,869 (GRCm39) S3073P possibly damaging Het
Usp24 T C 4: 106,230,953 (GRCm39) I844T probably damaging Het
V1ra8 A T 6: 90,179,916 (GRCm39) I40F probably benign Het
Vmn2r88 T A 14: 51,650,530 (GRCm39) M81K possibly damaging Het
Vps8 T C 16: 21,393,763 (GRCm39) I1182T probably damaging Het
Wdr54 A G 6: 83,130,591 (GRCm39) V181A probably benign Het
Zbed4 A G 15: 88,665,990 (GRCm39) Y686C probably damaging Het
Zfyve28 T C 5: 34,393,480 (GRCm39) N62S possibly damaging Het
Zic1 T C 9: 91,246,424 (GRCm39) Y216C probably damaging Het
Other mutations in Drc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01633:Drc1 APN 5 30,503,007 (GRCm39) missense probably damaging 1.00
IGL02123:Drc1 APN 5 30,504,448 (GRCm39) missense probably benign 0.07
IGL02839:Drc1 APN 5 30,507,767 (GRCm39) missense probably benign 0.02
putative UTSW 5 30,513,632 (GRCm39) missense probably benign 0.11
PIT4431001:Drc1 UTSW 5 30,504,417 (GRCm39) missense probably damaging 0.98
R0147:Drc1 UTSW 5 30,486,487 (GRCm39) missense possibly damaging 0.90
R0148:Drc1 UTSW 5 30,486,487 (GRCm39) missense possibly damaging 0.90
R0590:Drc1 UTSW 5 30,520,480 (GRCm39) missense probably benign 0.00
R1640:Drc1 UTSW 5 30,521,301 (GRCm39) missense possibly damaging 0.81
R1799:Drc1 UTSW 5 30,523,841 (GRCm39) missense probably damaging 1.00
R2105:Drc1 UTSW 5 30,513,785 (GRCm39) missense probably benign 0.01
R2252:Drc1 UTSW 5 30,500,075 (GRCm39) missense probably benign 0.00
R2366:Drc1 UTSW 5 30,523,894 (GRCm39) makesense probably null
R2570:Drc1 UTSW 5 30,512,609 (GRCm39) missense probably damaging 1.00
R4036:Drc1 UTSW 5 30,504,526 (GRCm39) missense probably benign
R4181:Drc1 UTSW 5 30,513,057 (GRCm39) missense probably benign 0.16
R4210:Drc1 UTSW 5 30,504,490 (GRCm39) missense possibly damaging 0.47
R4329:Drc1 UTSW 5 30,513,002 (GRCm39) missense probably benign 0.16
R4560:Drc1 UTSW 5 30,520,441 (GRCm39) missense probably benign
R4765:Drc1 UTSW 5 30,506,075 (GRCm39) missense probably benign 0.04
R5239:Drc1 UTSW 5 30,520,467 (GRCm39) missense probably benign 0.00
R5375:Drc1 UTSW 5 30,513,745 (GRCm39) missense probably benign
R5838:Drc1 UTSW 5 30,523,857 (GRCm39) splice site probably null
R5933:Drc1 UTSW 5 30,502,873 (GRCm39) missense probably damaging 0.99
R6014:Drc1 UTSW 5 30,502,993 (GRCm39) missense probably damaging 1.00
R6408:Drc1 UTSW 5 30,513,632 (GRCm39) missense probably benign 0.11
R6710:Drc1 UTSW 5 30,520,429 (GRCm39) missense possibly damaging 0.83
R6755:Drc1 UTSW 5 30,512,490 (GRCm39) missense probably damaging 1.00
R7341:Drc1 UTSW 5 30,521,812 (GRCm39) missense probably damaging 1.00
R7592:Drc1 UTSW 5 30,499,060 (GRCm39) missense possibly damaging 0.75
R7651:Drc1 UTSW 5 30,516,958 (GRCm39) missense probably benign 0.02
R7770:Drc1 UTSW 5 30,507,856 (GRCm39) nonsense probably null
R7976:Drc1 UTSW 5 30,521,829 (GRCm39) missense probably benign 0.05
R8861:Drc1 UTSW 5 30,521,839 (GRCm39) unclassified probably benign
R8987:Drc1 UTSW 5 30,521,439 (GRCm39) missense probably damaging 1.00
R9171:Drc1 UTSW 5 30,513,794 (GRCm39) missense probably benign 0.01
R9425:Drc1 UTSW 5 30,502,938 (GRCm39) missense probably benign 0.26
X0018:Drc1 UTSW 5 30,502,888 (GRCm39) missense probably damaging 1.00
X0021:Drc1 UTSW 5 30,513,767 (GRCm39) missense probably benign 0.38
Z1177:Drc1 UTSW 5 30,506,041 (GRCm39) missense probably benign 0.32
Z1177:Drc1 UTSW 5 30,502,851 (GRCm39) missense possibly damaging 0.49
Predicted Primers PCR Primer
(F):5'- CCTCTCTGTAGTTTCTGCAATAAG -3'
(R):5'- ACTTTGCAGGGAATGGCTGC -3'

Sequencing Primer
(F):5'- GTAGTTTCTGCAATAAGAACCTAGC -3'
(R):5'- AATGGCTGCCTCTGAGACACTG -3'
Posted On 2021-01-18