Incidental Mutation 'R6408:Drc1'
ID514525
Institutional Source Beutler Lab
Gene Symbol Drc1
Ensembl Gene ENSMUSG00000073102
Gene Namedynein regulatory complex subunit 1
SynonymsCcdc164, Gm1060, LOC381738, b2b1654Clo
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6408 (G1)
Quality Score225.009
Status Validated
Chromosome5
Chromosomal Location30281388-30366695 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 30356288 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 396 (E396G)
Ref Sequence ENSEMBL: ENSMUSP00000098992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101448]
Predicted Effect probably benign
Transcript: ENSMUST00000101448
AA Change: E396G

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000098992
Gene: ENSMUSG00000073102
AA Change: E396G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198023
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200183
Meta Mutation Damage Score 0.052 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.2%
Validation Efficiency 94% (45/48)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik T C 5: 107,543,992 S50P probably damaging Het
4930407I10Rik T C 15: 82,065,106 V1068A possibly damaging Het
Acss1 A G 2: 150,628,492 probably null Het
Amer2 T C 14: 60,380,225 I497T probably damaging Het
Azi2 A T 9: 118,061,482 R51* probably null Het
BC005561 A G 5: 104,518,777 I388M probably benign Het
Brdt A G 5: 107,385,492 D946G probably damaging Het
Bzw2 C T 12: 36,107,525 V314I possibly damaging Het
Capn13 A T 17: 73,365,959 Y116* probably null Het
Clca4b A G 3: 144,919,275 I485T probably benign Het
Crybg3 T A 16: 59,495,690 T1130S possibly damaging Het
Cubn C T 2: 13,294,203 V3220M probably damaging Het
Cyp4f16 T A 17: 32,551,199 L514Q probably damaging Het
D7Ertd443e G T 7: 134,349,711 Q31K probably benign Het
Dcaf15 T C 8: 84,104,726 E8G probably benign Het
Ddx24 A C 12: 103,425,560 probably benign Het
Diaph3 T C 14: 86,828,994 M988V possibly damaging Het
Dlx4 A G 11: 95,145,252 V77A probably benign Het
Dnah3 T C 7: 119,922,968 probably null Het
Gab1 C A 8: 80,788,597 R364L possibly damaging Het
Gbp2b T C 3: 142,618,138 L568S probably benign Het
Gjb5 A T 4: 127,356,147 F68Y probably benign Het
Gm17359 A G 3: 79,449,399 R170G probably benign Het
Gm9008 A G 6: 76,496,458 C392R probably damaging Het
Hs6st3 C A 14: 119,138,634 P74T probably benign Het
Kif26b T C 1: 178,917,568 L1743P probably damaging Het
Lnx1 A T 5: 74,685,646 C48S probably damaging Het
Lrfn2 A G 17: 49,070,626 H245R probably damaging Het
Lrrc27 A G 7: 139,218,268 E93G probably benign Het
Mettl6 T C 14: 31,479,726 E253G probably damaging Het
Nmu A T 5: 76,343,971 F106Y probably damaging Het
Pcsk7 T C 9: 45,909,696 I142T probably benign Het
Polr3a A T 14: 24,486,871 probably null Het
Psmb9 G T 17: 34,185,733 A19E probably damaging Het
Pus7l A G 15: 94,531,575 M454T probably benign Het
Raet1e A G 10: 22,180,746 T74A probably benign Het
Ralb A C 1: 119,478,109 Y43* probably null Het
Ralgapa1 C A 12: 55,683,910 E1947* probably null Het
Robo1 T C 16: 72,972,046 Y500H probably benign Het
Shroom1 A C 11: 53,463,387 T45P probably benign Het
Slit2 A G 5: 47,984,986 probably benign Het
Srgap3 T C 6: 112,723,006 S1004G probably damaging Het
Taok2 A G 7: 126,870,992 V888A probably benign Het
Tbc1d8 T A 1: 39,402,899 D204V probably damaging Het
Trav7d-4 C A 14: 52,770,167 A39D probably damaging Het
Ush2a G T 1: 188,267,032 E180* probably null Het
Vmn1r37 A G 6: 66,731,579 D63G probably benign Het
Zfp282 G A 6: 47,880,385 R184Q probably damaging Het
Other mutations in Drc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01633:Drc1 APN 5 30345663 missense probably damaging 1.00
IGL02123:Drc1 APN 5 30347104 missense probably benign 0.07
IGL02839:Drc1 APN 5 30350423 missense probably benign 0.02
putative UTSW 5 30356288 missense probably benign 0.11
PIT4431001:Drc1 UTSW 5 30347073 missense probably damaging 0.98
R0147:Drc1 UTSW 5 30281489 missense possibly damaging 0.90
R0148:Drc1 UTSW 5 30281489 missense possibly damaging 0.90
R0590:Drc1 UTSW 5 30363136 missense probably benign 0.00
R1640:Drc1 UTSW 5 30363957 missense possibly damaging 0.81
R1799:Drc1 UTSW 5 30366497 missense probably damaging 1.00
R2105:Drc1 UTSW 5 30356441 missense probably benign 0.01
R2252:Drc1 UTSW 5 30342731 missense probably benign 0.00
R2366:Drc1 UTSW 5 30366550 makesense probably null
R2570:Drc1 UTSW 5 30355265 missense probably damaging 1.00
R4036:Drc1 UTSW 5 30347182 missense probably benign
R4181:Drc1 UTSW 5 30355713 missense probably benign 0.16
R4210:Drc1 UTSW 5 30347146 missense possibly damaging 0.47
R4329:Drc1 UTSW 5 30355658 missense probably benign 0.16
R4560:Drc1 UTSW 5 30363097 missense probably benign
R4765:Drc1 UTSW 5 30348731 missense probably benign 0.04
R5239:Drc1 UTSW 5 30363123 missense probably benign 0.00
R5375:Drc1 UTSW 5 30356401 missense probably benign
R5838:Drc1 UTSW 5 30366513 unclassified probably null
R5933:Drc1 UTSW 5 30345529 missense probably damaging 0.99
R6014:Drc1 UTSW 5 30345649 missense probably damaging 1.00
R6710:Drc1 UTSW 5 30363085 missense possibly damaging 0.83
R6755:Drc1 UTSW 5 30355146 missense probably damaging 1.00
R7341:Drc1 UTSW 5 30364468 missense probably damaging 1.00
X0018:Drc1 UTSW 5 30345544 missense probably damaging 1.00
X0021:Drc1 UTSW 5 30356423 missense probably benign 0.38
Predicted Primers PCR Primer
(F):5'- TCATAAGGGATGACATCAGAGC -3'
(R):5'- TGACTGACTTCTGCTGCTGC -3'

Sequencing Primer
(F):5'- TCATAGGAAGGTCACTCTGCTAG -3'
(R):5'- TGCTGCTGCAGGGAAATC -3'
Posted On2018-05-04