Incidental Mutation 'R7592:Drc1'
ID 587444
Institutional Source Beutler Lab
Gene Symbol Drc1
Ensembl Gene ENSMUSG00000073102
Gene Name dynein regulatory complex subunit 1
Synonyms Gm1060, Ccdc164, b2b1654Clo, LOC381738
MMRRC Submission 045639-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7592 (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 G at 30499060 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 70 (S70G)
Ref Sequence ENSEMBL: ENSMUSP00000098992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101448]
AlphaFold Q3USS3
Predicted Effect possibly damaging
Transcript: ENSMUST00000101448
AA Change: S70G

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000098992
Gene: ENSMUSG00000073102
AA Change: S70G

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
Meta Mutation Damage Score 0.0914 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 98% (56/57)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A G 16: 4,667,138 (GRCm39) T204A unknown Het
Abca12 T C 1: 71,327,836 (GRCm39) T1415A probably benign Het
Adamtsl3 A G 7: 81,986,459 (GRCm39) T24A probably benign Het
Ankrd13b A C 11: 77,367,327 (GRCm39) V194G probably benign Het
Aurkc C T 7: 7,003,006 (GRCm39) T167I probably benign Het
Capn1 T C 19: 6,064,469 (GRCm39) Y10C probably benign Het
Ccnk T C 12: 108,152,724 (GRCm39) S14P possibly damaging Het
Cebpe T A 14: 54,949,298 (GRCm39) I40F probably damaging Het
Cers3 G A 7: 66,439,377 (GRCm39) C296Y probably damaging Het
Cog8 A T 8: 107,776,861 (GRCm39) C505S possibly damaging Het
Col4a3 A G 1: 82,626,338 (GRCm39) I92V unknown Het
Col5a3 T A 9: 20,708,689 (GRCm39) H645L unknown Het
Crispld1 A T 1: 17,798,990 (GRCm39) E37V possibly damaging Het
Csmd2 A G 4: 128,357,591 (GRCm39) Y1684C Het
Cstdc5 A T 16: 36,187,862 (GRCm39) M1K probably null Het
Dcst1 C A 3: 89,260,599 (GRCm39) S555I probably benign Het
Elavl2 A T 4: 91,199,808 (GRCm39) probably null Het
Emc1 A G 4: 139,087,877 (GRCm39) H300R probably benign Het
Gcnt4 G A 13: 97,083,669 (GRCm39) V322I probably benign Het
Gsg1l2 A G 11: 67,665,584 (GRCm39) N51D probably benign Het
Gucy2e A T 11: 69,114,150 (GRCm39) probably null Het
Hip1r A G 5: 124,136,036 (GRCm39) E579G probably benign Het
Hoxa4 T C 6: 52,168,520 (GRCm39) H50R unknown Het
Htr7 T C 19: 36,034,292 (GRCm39) Y121C probably damaging Het
Ift43 G A 12: 86,207,964 (GRCm39) D111N probably damaging Het
Itih3 A G 14: 30,630,722 (GRCm39) V863A probably damaging Het
Macf1 T C 4: 123,304,686 (GRCm39) probably benign Het
Mgat3 A G 15: 80,095,193 (GRCm39) K7E probably damaging Het
Ndst4 T A 3: 125,364,436 (GRCm39) V371E probably damaging Het
Npr1 T G 3: 90,372,323 (GRCm39) D163A possibly damaging Het
Nudt12 T C 17: 59,313,589 (GRCm39) I330V probably benign Het
Or2a20 T G 6: 43,194,179 (GRCm39) C111G probably damaging Het
Or4k2 T A 14: 50,424,020 (GRCm39) Y219F probably damaging Het
Or51l4 C A 7: 103,404,279 (GRCm39) C171F probably damaging Het
Or7g32 C A 9: 19,389,128 (GRCm39) M139I possibly damaging Het
Poc1a A T 9: 106,226,967 (GRCm39) R402S probably benign Het
Prex2 G T 1: 11,193,437 (GRCm39) V470L probably damaging Het
Prom1 T C 5: 44,220,469 (GRCm39) E93G probably damaging Het
Psma1 A T 7: 113,868,961 (GRCm39) M180K probably benign Het
Pudp A T 18: 50,701,053 (GRCm39) F227I probably damaging Het
Rab15 T A 12: 76,851,223 (GRCm39) Q60L probably damaging Het
Scaf8 T C 17: 3,221,497 (GRCm39) probably null Het
Septin9 T A 11: 117,181,488 (GRCm39) I96N probably damaging Het
Sez6 T C 11: 77,868,876 (GRCm39) S976P probably damaging Het
Slc2a12 A G 10: 22,540,802 (GRCm39) Y219C probably damaging Het
Slc38a9 T A 13: 112,831,889 (GRCm39) I213K probably damaging Het
Stil T A 4: 114,881,005 (GRCm39) D516E probably benign Het
Supt20 A G 3: 54,614,543 (GRCm39) D184G probably damaging Het
Tars3 G A 7: 65,308,619 (GRCm39) S263N probably benign Het
Tmem181a C A 17: 6,339,295 (GRCm39) T68K probably benign Het
Trav21-dv12 G T 14: 54,113,997 (GRCm39) C39F probably damaging Het
Tshz1 T C 18: 84,032,173 (GRCm39) E745G probably damaging Het
Ugt1a8 T A 1: 88,015,904 (GRCm39) F106I probably benign Het
Vmn1r39 C A 6: 66,781,428 (GRCm39) V297L probably benign Het
Vmn2r101 G A 17: 19,811,443 (GRCm39) probably null Het
Vmn2r69 GAAAA GAAAAA 7: 85,060,768 (GRCm39) probably null 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
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
R8483:Drc1 UTSW 5 30,507,785 (GRCm39) missense probably benign 0.28
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'- AAGATGGGCTTTGTATCCTAAGG -3'
(R):5'- CGTGCCATCTTTCCTGACAG -3'

Sequencing Primer
(F):5'- ACTGGCTTTGTAAACCAGGC -3'
(R):5'- TCCTGACAGGAACCTACAGTTTG -3'
Posted On 2019-10-24