Mutagenetix > Incidental Mutation

Incidental Mutation 'R7341:Drc1'

569843

Institutional Source

Beutler Lab

Gene Symbol

Drc1

Ensembl Gene

ENSMUSG00000073102

Gene Name

dynein regulatory complex subunit 1

Synonyms

Gm1060, Ccdc164, b2b1654Clo, LOC381738

MMRRC Submission

045431-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7341 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30486386-30524039 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30521812 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 728 (L728Q)

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 damaging
Transcript: ENSMUST00000101448
AA Change: L728Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000098992
Gene: ENSMUSG00000073102
AA Change: L728Q

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

Meta Mutation Damage Score

0.4460

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (92/92)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,130,211 (GRCm39)	D282N	probably damaging	Het
Adam3	T	A	8: 25,177,996 (GRCm39)	N639I	possibly damaging	Het
Adamtsl3	T	A	7: 82,206,082 (GRCm39)	C756S	probably damaging	Het
Arhgap31	C	T	16: 38,532,876 (GRCm39)		probably null	Het
Ascl4	G	A	10: 85,764,529 (GRCm39)	A59T	possibly damaging	Het
Ash1l	T	A	3: 88,889,066 (GRCm39)	I315N	possibly damaging	Het
Atp6v0d2	T	C	4: 19,887,330 (GRCm39)	D206G	possibly damaging	Het
Baz1b	T	A	5: 135,251,970 (GRCm39)	L923I	probably damaging	Het
Birc6	T	A	17: 74,919,069 (GRCm39)	N1966K	probably damaging	Het
Bod1l	T	C	5: 41,946,200 (GRCm39)	N3025S	probably benign	Het
Bub1b	C	A	2: 118,467,267 (GRCm39)	H863Q	possibly damaging	Het
C1rb	T	A	6: 124,554,411 (GRCm39)	Y397*	probably null	Het
Ccdc180	A	G	4: 45,898,644 (GRCm39)	E164G	possibly damaging	Het
Ccdc9	C	T	7: 16,014,552 (GRCm39)	V230M	probably damaging	Het
Cchcr1	C	A	17: 35,837,610 (GRCm39)	N437K	probably benign	Het
Cdhr2	T	A	13: 54,867,305 (GRCm39)	L408Q	probably damaging	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Chd1	T	C	17: 15,990,499 (GRCm39)	S1684P	probably damaging	Het
CN725425	A	G	15: 91,126,873 (GRCm39)	Y221C	possibly damaging	Het
Col4a2	T	C	8: 11,448,678 (GRCm39)	V66A	probably damaging	Het
Cpd	C	A	11: 76,737,779 (GRCm39)	R5L	unknown	Het
Cpeb4	C	T	11: 31,868,807 (GRCm39)	T422I	possibly damaging	Het
Cspg4b	G	T	13: 113,454,706 (GRCm39)	G251C		Het
Cyp1a1	G	T	9: 57,608,107 (GRCm39)	R245L	probably damaging	Het
Cyp4f39	A	G	17: 32,705,928 (GRCm39)	T340A	probably damaging	Het
Cyp4v3	A	T	8: 45,774,787 (GRCm39)	F122L	probably benign	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
Ecpas	A	T	4: 58,809,415 (GRCm39)	V1653D	possibly damaging	Het
Ermp1	T	A	19: 29,623,654 (GRCm39)	H112L	probably benign	Het
Exoc8	T	C	8: 125,623,320 (GRCm39)	D349G	probably damaging	Het
Fam151a	T	A	4: 106,592,707 (GRCm39)	M63K	probably benign	Het
Fmo9	C	A	1: 166,504,115 (GRCm39)	G149V	probably damaging	Het
Fndc8	A	G	11: 82,789,603 (GRCm39)	T254A	possibly damaging	Het
Foxi3	G	A	6: 70,937,862 (GRCm39)	V365I	probably benign	Het
Frem2	C	T	3: 53,561,916 (GRCm39)	G864S	probably damaging	Het
Fstl5	T	A	3: 76,389,704 (GRCm39)		probably null	Het
Garnl3	T	A	2: 32,924,141 (GRCm39)	E247V	probably damaging	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gorasp1	T	A	9: 119,766,600 (GRCm39)		probably benign	Het
Hcar2	T	C	5: 124,002,541 (GRCm39)	N321D	possibly damaging	Het
Hoxb6	G	T	11: 96,190,395 (GRCm39)	M131I	probably damaging	Het
Kif13a	A	G	13: 46,980,221 (GRCm39)	V177A	probably damaging	Het
Limch1	C	T	5: 67,191,545 (GRCm39)	T794I	probably benign	Het
Lmbrd2	A	G	15: 9,165,906 (GRCm39)	Y260C	possibly damaging	Het
Lmo7	A	G	14: 102,122,948 (GRCm39)	N379S	probably benign	Het
Lrp6	G	T	6: 134,427,781 (GRCm39)	P1604T	probably damaging	Het
Lrrc14	A	T	15: 76,598,711 (GRCm39)	E449V	probably damaging	Het
Lrrc8c	T	C	5: 105,755,133 (GRCm39)	Y303H	probably damaging	Het
Mecr	T	G	4: 131,570,986 (GRCm39)	V58G	probably null	Het
Med12l	T	A	3: 58,949,824 (GRCm39)	D193E	possibly damaging	Het
Moap1	T	C	12: 102,709,438 (GRCm39)	E37G	probably damaging	Het
Mrgprb2	T	A	7: 48,202,644 (GRCm39)	Y27F	probably benign	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Ndufs5	A	T	4: 123,609,744 (GRCm39)	C43*	probably null	Het
Oaz2	A	T	9: 65,596,183 (GRCm39)	D83V		Het
Or2t29	A	T	11: 58,433,533 (GRCm39)	Y269*	probably null	Het
Or5ac22	T	A	16: 59,135,512 (GRCm39)	N86I	possibly damaging	Het
Palm	A	G	10: 79,652,697 (GRCm39)	T191A	probably damaging	Het
Pclo	C	A	5: 14,725,850 (GRCm39)	D1569E	unknown	Het
Ppid	T	A	3: 79,507,604 (GRCm39)	D264E	probably benign	Het
Ppp1r3a	A	G	6: 14,718,749 (GRCm39)	S722P	probably damaging	Het
Ranbp2	A	G	10: 58,321,619 (GRCm39)	S2639G	possibly damaging	Het
Rbak	T	C	5: 143,161,827 (GRCm39)	T68A	probably benign	Het
Rbm15b	C	T	9: 106,762,246 (GRCm39)	G641R	probably benign	Het
Rgsl1	A	G	1: 153,669,591 (GRCm39)	I265T	probably benign	Het
Rmdn1	T	A	4: 19,586,837 (GRCm39)	Y98*	probably null	Het
Sfxn3	T	G	19: 45,037,701 (GRCm39)	N52K	probably benign	Het
Slc17a3	G	T	13: 24,030,867 (GRCm39)	G182*	probably null	Het
Slc29a3	A	T	10: 60,586,437 (GRCm39)	Y10N	probably benign	Het
Slc43a1	T	C	2: 84,693,278 (GRCm39)	Y577H	probably damaging	Het
Smarcd3	T	A	5: 24,800,435 (GRCm39)	I210F	possibly damaging	Het
Snapc4	A	T	2: 26,259,273 (GRCm39)	S626T	probably benign	Het
Sp5	T	A	2: 70,307,041 (GRCm39)	L242*	probably null	Het
Spata25	C	G	2: 164,669,582 (GRCm39)	G143A	probably damaging	Het
Spata6	T	A	4: 111,625,935 (GRCm39)	Y101*	probably null	Het
Tdp2	T	G	13: 25,016,059 (GRCm39)	S89A	probably benign	Het
Tlr6	T	C	5: 65,110,972 (GRCm39)	E645G	probably benign	Het
Tmem209	T	C	6: 30,494,794 (GRCm39)	I355V	probably benign	Het
Trappc8	A	T	18: 20,985,704 (GRCm39)	Y646N	probably damaging	Het
Tspoap1	A	G	11: 87,657,205 (GRCm39)	N399S	probably damaging	Het
Ube4b	A	G	4: 149,427,458 (GRCm39)	Y897H	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,569,461 (GRCm39)		probably benign	Het
Usp9y	A	T	Y: 1,315,759 (GRCm39)		probably null	Het
Vmn2r1	T	C	3: 64,012,877 (GRCm39)	*913Q	probably null	Het
Vmn2r12	T	A	5: 109,234,113 (GRCm39)	T700S	possibly damaging	Het
Vmn2r12	C	T	5: 109,239,811 (GRCm39)	A251T	possibly damaging	Het
Wdr70	A	C	15: 7,953,725 (GRCm39)	F389V	possibly damaging	Het
Wdr91	A	T	6: 34,868,395 (GRCm39)	M442K	possibly damaging	Het
Ydjc	T	C	16: 16,968,762 (GRCm39)	C234R	probably benign	Het
Zfp87	A	G	13: 74,520,467 (GRCm39)	Y204H	possibly damaging	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
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'- GGTCTTTAGGGGCAATCCTGTC -3'
(R):5'- AGGCTAGCCTAGTCTACCTGAC -3'

Sequencing Primer
(F):5'- TGCTCACACAGTCTGAGGG -3'
(R):5'- GTCTACCTGACACACTAGCTG -3'

Posted On

2019-09-13