Incidental Mutation 'R5838:Drc1'
ID 449711
Institutional Source Beutler Lab
Gene Symbol Drc1
Ensembl Gene ENSMUSG00000073102
Gene Name dynein regulatory complex subunit 1
Synonyms Gm1060, Ccdc164, b2b1654Clo, LOC381738
MMRRC Submission 044058-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5838 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 30486386-30524039 bp(+) (GRCm39)
Type of Mutation splice site (549 bp from exon)
DNA Base Change (assembly) T to A at 30523857 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110395 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074171] [ENSMUST00000101448] [ENSMUST00000114747]
AlphaFold Q3USS3
Predicted Effect probably null
Transcript: ENSMUST00000074171
SMART Domains Protein: ENSMUSP00000073803
Gene: ENSMUSG00000062372

DomainStartEndE-ValueType
C2 2 97 6.83e-1 SMART
C2 254 352 3.76e-11 SMART
FerI 338 409 7.91e-38 SMART
C2 417 528 1.75e-11 SMART
low complexity region 607 618 N/A INTRINSIC
FerB 841 917 5.13e-46 SMART
C2 960 1067 1.77e-7 SMART
low complexity region 1191 1202 N/A INTRINSIC
low complexity region 1265 1276 N/A INTRINSIC
low complexity region 1293 1323 N/A INTRINSIC
low complexity region 1370 1385 N/A INTRINSIC
low complexity region 1436 1447 N/A INTRINSIC
C2 1493 1592 6.54e-11 SMART
C2 1733 1863 4.02e0 SMART
Pfam:Ferlin_C 1895 1994 7.2e-33 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000101448
AA Change: I742N

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000098992
Gene: ENSMUSG00000073102
AA Change: I742N

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 probably null
Transcript: ENSMUST00000114747
SMART Domains Protein: ENSMUSP00000110395
Gene: ENSMUSG00000062372

DomainStartEndE-ValueType
C2 2 97 6.83e-1 SMART
C2 269 367 3.76e-11 SMART
FerI 353 424 7.91e-38 SMART
C2 432 543 1.75e-11 SMART
low complexity region 622 633 N/A INTRINSIC
FerB 856 932 5.13e-46 SMART
C2 975 1082 1.77e-7 SMART
Pfam:C2 1153 1236 1.8e-1 PFAM
low complexity region 1260 1271 N/A INTRINSIC
low complexity region 1288 1318 N/A INTRINSIC
low complexity region 1365 1380 N/A INTRINSIC
low complexity region 1431 1442 N/A INTRINSIC
C2 1488 1587 6.54e-11 SMART
C2 1728 1858 4.02e0 SMART
low complexity region 1903 1915 N/A INTRINSIC
transmembrane domain 1959 1981 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144125
SMART Domains Protein: ENSMUSP00000120679
Gene: ENSMUSG00000062372

DomainStartEndE-ValueType
C2 2 97 6.83e-1 SMART
C2 254 352 3.76e-11 SMART
FerI 338 409 7.91e-38 SMART
C2 417 528 1.75e-11 SMART
low complexity region 607 618 N/A INTRINSIC
FerB 841 917 5.13e-46 SMART
C2 960 1067 1.77e-7 SMART
low complexity region 1191 1202 N/A INTRINSIC
low complexity region 1265 1276 N/A INTRINSIC
low complexity region 1293 1323 N/A INTRINSIC
low complexity region 1370 1385 N/A INTRINSIC
low complexity region 1436 1447 N/A INTRINSIC
C2 1493 1592 6.54e-11 SMART
C2 1733 1863 4.02e0 SMART
Pfam:Ferlin_C 1895 1994 7.2e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150734
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200001
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.7%
Validation Efficiency
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace G A 11: 105,863,706 (GRCm39) V385I probably benign Het
Apmap T C 2: 150,427,777 (GRCm39) Y315C probably damaging Het
Arhgef12 G A 9: 42,916,904 (GRCm39) T414I probably damaging Het
Cd200r1 C A 16: 44,586,397 (GRCm39) A9D possibly damaging Het
Cdkal1 T C 13: 29,875,669 (GRCm39) D183G probably benign Het
Clk1 C A 1: 58,451,819 (GRCm39) C432F probably damaging Het
Col27a1 G T 4: 63,143,765 (GRCm39) L484F probably damaging Het
Col7a1 A G 9: 108,807,211 (GRCm39) E2480G unknown Het
Dnah5 A G 15: 28,290,341 (GRCm39) I1244V probably benign Het
Dock3 G T 9: 106,772,687 (GRCm39) P522Q possibly damaging Het
Epas1 C T 17: 87,131,114 (GRCm39) T298I possibly damaging Het
Epha1 A T 6: 42,338,580 (GRCm39) I699N probably damaging Het
Ephb3 T C 16: 21,040,437 (GRCm39) S558P probably damaging Het
Epn1 T A 7: 5,100,165 (GRCm39) L426* probably null Het
Fam234b T C 6: 135,202,265 (GRCm39) V329A probably benign Het
Fasn G T 11: 120,706,950 (GRCm39) R901S probably damaging Het
Fbln2 T C 6: 91,248,830 (GRCm39) M1165T possibly damaging Het
Fer1l4 T C 2: 155,893,913 (GRCm39) R103G probably benign Het
G6pd2 T A 5: 61,966,568 (GRCm39) D114E probably benign Het
Galnt10 A G 11: 57,671,882 (GRCm39) K391E probably damaging Het
Gpr150 C A 13: 76,204,045 (GRCm39) C300F probably benign Het
Hhipl2 A G 1: 183,204,479 (GRCm39) T151A probably damaging Het
Hmcn2 C A 2: 31,347,819 (GRCm39) L4822M probably damaging Het
Ifi207 T A 1: 173,559,953 (GRCm39) Q173L unknown Het
Inca1 T C 11: 70,580,707 (GRCm39) E86G probably damaging Het
Iqca1 A G 1: 90,072,667 (GRCm39) L71P probably benign Het
Kank2 G T 9: 21,706,689 (GRCm39) Q110K probably damaging Het
Katnip A T 7: 125,466,827 (GRCm39) M1361L possibly damaging Het
Kif13b A T 14: 64,975,004 (GRCm39) M407L probably damaging Het
Kif5a A C 10: 127,081,310 (GRCm39) I208S probably damaging Het
Kmt2c T C 5: 25,489,469 (GRCm39) K4490R probably damaging Het
Ltbp2 C T 12: 84,835,875 (GRCm39) R1352H probably benign Het
Macf1 T C 4: 123,345,947 (GRCm39) Q2061R possibly damaging Het
Marcks A G 10: 37,012,163 (GRCm39) S291P probably benign Het
Mccc1 A G 3: 36,039,231 (GRCm39) V254A possibly damaging Het
Mdn1 C T 4: 32,754,547 (GRCm39) R4683W probably damaging Het
Mon2 A G 10: 122,846,397 (GRCm39) probably null Het
Ndrg4 A T 8: 96,433,421 (GRCm39) H134L probably damaging Het
Nek7 C A 1: 138,462,101 (GRCm39) probably null Het
Nlrc3 C T 16: 3,771,859 (GRCm39) S151N probably damaging Het
Nsl1 C A 1: 190,802,310 (GRCm39) A146E probably benign Het
Or10a3n A T 7: 108,493,292 (GRCm39) F107L probably benign Het
Or2y1e A C 11: 49,218,760 (GRCm39) N174T probably damaging Het
Or52ac1 A G 7: 104,246,104 (GRCm39) Y95H probably benign Het
Or5b120 T A 19: 13,479,922 (GRCm39) Y72N probably damaging Het
Or6c210 A T 10: 129,495,907 (GRCm39) R77S probably benign Het
Pde4d A C 13: 109,876,976 (GRCm39) S41R probably damaging Het
Phlpp1 T A 1: 106,274,862 (GRCm39) L875* probably null Het
Pkd1 T A 17: 24,799,186 (GRCm39) S2802T possibly damaging Het
Polr3b A G 10: 84,510,454 (GRCm39) T500A probably benign Het
Ppp2r2c T C 5: 37,097,531 (GRCm39) V239A probably benign Het
Pramel11 A G 4: 143,623,490 (GRCm39) V228A probably benign Het
Reln T A 5: 22,104,111 (GRCm39) I3287F probably damaging Het
Scube2 T C 7: 109,407,651 (GRCm39) D763G probably damaging Het
Setd5 T C 6: 113,096,396 (GRCm39) V534A probably benign Het
Slc10a4 T A 5: 73,169,373 (GRCm39) C333S probably benign Het
Slc15a1 G A 14: 121,722,283 (GRCm39) A206V probably damaging Het
Snx14 A G 9: 88,273,829 (GRCm39) L654P probably damaging Het
Sowahc G A 10: 59,059,012 (GRCm39) A383T possibly damaging Het
Taf1b A G 12: 24,550,448 (GRCm39) D11G possibly damaging Het
Tap1 C T 17: 34,412,279 (GRCm39) Q164* probably null Het
Tbcel T A 9: 42,327,168 (GRCm39) R430W probably damaging Het
Trappc11 A T 8: 47,965,594 (GRCm39) probably null Het
Trim15 T C 17: 37,173,732 (GRCm39) I259V probably damaging Het
Trpt1 T C 19: 6,975,668 (GRCm39) S141P probably damaging Het
Tsc2 T A 17: 24,832,190 (GRCm39) Q732L probably benign Het
Tstd3 C A 4: 21,759,622 (GRCm39) probably null Het
Unc13d T C 11: 115,955,451 (GRCm39) K914R possibly damaging Het
Unk A G 11: 115,940,157 (GRCm39) E170G probably damaging Het
Uqcc2 T A 17: 27,344,860 (GRCm39) K62* probably null Het
Vim A G 2: 13,585,001 (GRCm39) D394G probably damaging Het
Wdr47 G A 3: 108,532,052 (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
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
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'- GAGAATGCTTCTGGGAGCACTAG -3'
(R):5'- GGCCTCTTTCACAGCATTCAG -3'

Sequencing Primer
(F):5'- CACTAGCTGGAGCCAGACAG -3'
(R):5'- TCAGAAAAACCCAGGGTG -3'
Posted On 2016-12-20