Mutagenetix > Incidental Mutation

Incidental Mutation 'R7976:Drc1'

650898

Institutional Source

Beutler Lab

Gene Symbol

Drc1

Ensembl Gene

ENSMUSG00000073102

Gene Name

dynein regulatory complex subunit 1

Synonyms

Gm1060, Ccdc164, b2b1654Clo, LOC381738

MMRRC Submission

046019-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7976 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30486386-30524039 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30521829 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 734 (A734T)

Ref Sequence

ENSEMBL: ENSMUSP00000098992 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074171] [ENSMUST00000101448] [ENSMUST00000114747]

AlphaFold

Q3USS3

Predicted Effect

probably benign
Transcript: ENSMUST00000074171

SMART Domains

Protein: ENSMUSP00000073803
Gene: ENSMUSG00000062372

Domain	Start	End	E-Value	Type
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

probably benign
Transcript: ENSMUST00000101448
AA Change: A734T

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000098992
Gene: ENSMUSG00000073102
AA Change: A734T

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000114747

SMART Domains

Protein: ENSMUSP00000110395
Gene: ENSMUSG00000062372

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adss1	A	C	12: 112,602,831 (GRCm39)	I341L	probably benign	Het
Aldh1b1	T	A	4: 45,803,092 (GRCm39)	M210K	possibly damaging	Het
Ankrd17	G	A	5: 90,431,451 (GRCm39)	Q778*	probably null	Het
Bmper	T	C	9: 23,318,106 (GRCm39)	V575A	probably damaging	Het
Brinp2	A	G	1: 158,073,913 (GRCm39)	V736A	probably benign	Het
Ccdc81	A	T	7: 89,515,723 (GRCm39)	L652*	probably null	Het
Cdt1	C	T	8: 123,298,585 (GRCm39)	R437W	probably damaging	Het
Ckb	A	C	12: 111,637,466 (GRCm39)	L165R	possibly damaging	Het
Col25a1	G	T	3: 130,290,075 (GRCm39)	G255V	probably damaging	Het
Ddx17	A	G	15: 79,420,156 (GRCm39)		probably null	Het
Dennd4a	G	T	9: 64,759,794 (GRCm39)	G300W	possibly damaging	Het
Dlg4	T	A	11: 69,930,008 (GRCm39)	I316N	probably damaging	Het
Dlgap2	C	T	8: 14,793,410 (GRCm39)	P467L	probably benign	Het
Dnah9	T	C	11: 65,732,227 (GRCm39)	I4226M	possibly damaging	Het
Entpd1	A	G	19: 40,600,865 (GRCm39)	M1V	probably null	Het
Exph5	T	G	9: 53,287,935 (GRCm39)	I1672S	possibly damaging	Het
Fam149b	T	A	14: 20,427,852 (GRCm39)	D379E	probably damaging	Het
Fgfr2	T	C	7: 129,787,074 (GRCm39)	T461A	probably damaging	Het
Frem1	A	G	4: 82,919,946 (GRCm39)	V469A	probably damaging	Het
Frem3	A	T	8: 81,338,231 (GRCm39)	K175*	probably null	Het
Fsd2	C	T	7: 81,209,629 (GRCm39)	G71E	probably benign	Het
Gcat	T	C	15: 78,919,188 (GRCm39)	I116T	probably damaging	Het
Gigyf2	G	A	1: 87,331,458 (GRCm39)	S202N	unknown	Het
Glra3	T	G	8: 56,565,911 (GRCm39)		probably null	Het
Golga4	C	T	9: 118,365,836 (GRCm39)	T296I	possibly damaging	Het
Herc1	C	T	9: 66,341,552 (GRCm39)	T1816I	possibly damaging	Het
Igfbpl1	C	A	4: 45,826,786 (GRCm39)	R3L	unknown	Het
Ighv15-2	A	T	12: 114,528,470 (GRCm39)	S28T	probably benign	Het
Kat2b	T	A	17: 53,955,835 (GRCm39)	M427K	probably benign	Het
Kdm4c	A	G	4: 74,295,906 (GRCm39)	T882A	probably damaging	Het
Kif1a	G	T	1: 92,967,496 (GRCm39)	F1138L	probably damaging	Het
Klhl20	A	T	1: 160,934,307 (GRCm39)	S237R	probably benign	Het
Lamc1	A	T	1: 153,123,014 (GRCm39)	N725K	probably damaging	Het
Lmtk3	A	G	7: 45,444,890 (GRCm39)	D1191G	unknown	Het
Ltbp1	C	A	17: 75,670,358 (GRCm39)	N1466K	possibly damaging	Het
Ly75	T	C	2: 60,195,432 (GRCm39)	E242G	probably damaging	Het
Lyrm1	T	C	7: 119,515,449 (GRCm39)	V113A	probably benign	Het
Mfsd13a	G	T	19: 46,360,446 (GRCm39)	A333S	probably benign	Het
Mllt10	T	C	2: 18,167,214 (GRCm39)	S380P	possibly damaging	Het
Mrc2	A	G	11: 105,238,829 (GRCm39)	K1295E	possibly damaging	Het
Muc5ac	A	T	7: 141,363,528 (GRCm39)	I2280F	unknown	Het
Neurod2	A	C	11: 98,218,023 (GRCm39)	F380L	probably damaging	Het
Ntrk3	G	A	7: 78,005,954 (GRCm39)	A469V	probably damaging	Het
Nup205	T	C	6: 35,175,888 (GRCm39)	F584L	probably damaging	Het
Oas1d	A	T	5: 121,057,210 (GRCm39)	Y272F	probably damaging	Het
Olfm3	T	C	3: 114,874,794 (GRCm39)	V30A	probably benign	Het
Or4c110	T	A	2: 88,831,973 (GRCm39)	I220F	probably damaging	Het
Or5b117	A	G	19: 13,431,563 (GRCm39)	I106T	probably benign	Het
Or8k22	A	G	2: 86,163,064 (GRCm39)	V212A	probably benign	Het
Pcdhga12	A	G	18: 37,901,427 (GRCm39)	Y753C	probably damaging	Het
Phox2b	A	G	5: 67,253,514 (GRCm39)	V294A	unknown	Het
Prdm2	A	T	4: 142,859,812 (GRCm39)	C1159*	probably null	Het
Ptpn12	G	T	5: 21,207,631 (GRCm39)	S275*	probably null	Het
Rigi	T	C	4: 40,209,894 (GRCm39)	M725V	probably damaging	Het
Rnf223	A	T	4: 156,216,776 (GRCm39)	E50D	probably damaging	Het
Rrp12	A	T	19: 41,879,548 (GRCm39)	Y169N	probably benign	Het
Sgip1	T	C	4: 102,757,736 (GRCm39)		probably null	Het
Shank2	T	C	7: 143,964,798 (GRCm39)	I802T	probably damaging	Het
Skint2	A	T	4: 112,481,329 (GRCm39)	N64I	probably damaging	Het
Smpd3	A	C	8: 106,982,254 (GRCm39)	C617G	probably benign	Het
Tmem106c	G	C	15: 97,865,985 (GRCm39)	G192R	probably damaging	Het
Tmem72	T	C	6: 116,673,800 (GRCm39)	H106R	probably damaging	Het
Upf2	G	C	2: 6,030,926 (GRCm39)	V789L	unknown	Het
Vash1	A	G	12: 86,726,758 (GRCm39)		probably benign	Het
Vmn1r201	T	A	13: 22,658,875 (GRCm39)	Y30N	probably benign	Het
Xpr1	A	G	1: 155,166,035 (GRCm39)	F571L	possibly damaging	Het
Yif1a	T	C	19: 5,139,815 (GRCm39)	S87P	probably damaging	Het
Zer1	T	C	2: 29,997,520 (GRCm39)	Y462C	probably damaging	Het
Zfp597	G	A	16: 3,684,375 (GRCm39)	P127L	possibly damaging	Het
Zxdc	T	C	6: 90,375,749 (GRCm39)	S742P	probably benign	Het

Other mutations in Drc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- AGGGCCTGGCTTCTAATCAATAGAG -3'
(R):5'- CTACGTATAGAGTTTGAGGCTAGC -3'

Sequencing Primer
(F):5'- CCTGGCTTCTAATCAATAGAGGATGG -3'
(R):5'- AGGCTAGCCTAGTCTACCTGAC -3'

Posted On

2020-09-15