Mutagenetix > Incidental Mutation

Incidental Mutation 'R7651:Drc1'

590821

Institutional Source

Beutler Lab

Gene Symbol

Drc1

Ensembl Gene

ENSMUSG00000073102

Gene Name

dynein regulatory complex subunit 1

Synonyms

Gm1060, Ccdc164, b2b1654Clo, LOC381738

MMRRC Submission

045728-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7651 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30486386-30524039 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30516958 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 519 (E519G)

Ref Sequence

ENSEMBL: ENSMUSP00000098992 (fasta)

Gene Model

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

AlphaFold

Q3USS3

Predicted Effect

probably benign
Transcript: ENSMUST00000101448
AA Change: E519G

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000098992
Gene: ENSMUSG00000073102
AA Change: E519G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	T	G	11: 58,184,188 (GRCm39)	V302G		Het
A230072I06Rik	T	C	8: 12,329,689 (GRCm39)	I48T	unknown	Het
Ada	T	A	2: 163,574,275 (GRCm39)	D127V	probably damaging	Het
Alb	G	C	5: 90,615,214 (GRCm39)	R242P	probably damaging	Het
Ankrd34c	T	C	9: 89,611,463 (GRCm39)	R293G	possibly damaging	Het
Ap2b1	T	C	11: 83,230,256 (GRCm39)		probably null	Het
Arhgef16	A	G	4: 154,375,524 (GRCm39)	S157P	probably damaging	Het
Atp2b1	C	T	10: 98,852,830 (GRCm39)	L1036F	probably damaging	Het
Ccdc27	A	T	4: 154,112,556 (GRCm39)	I573N	probably damaging	Het
Cep164	T	C	9: 45,685,150 (GRCm39)	E869G	probably benign	Het
Colq	A	T	14: 31,250,292 (GRCm39)	V381D	possibly damaging	Het
Drosha	G	A	15: 12,859,522 (GRCm39)	V577I	probably benign	Het
Epg5	C	T	18: 78,024,615 (GRCm39)	Q1157*	probably null	Het
Eqtn	T	C	4: 94,811,944 (GRCm39)	S150G	possibly damaging	Het
Fam110d	C	T	4: 133,978,959 (GRCm39)	R173H	probably damaging	Het
Fam216a	G	A	5: 122,505,445 (GRCm39)	H172Y	probably damaging	Het
Fbxw19	T	A	9: 109,323,714 (GRCm39)	D87V	probably damaging	Het
Fgr	A	T	4: 132,722,324 (GRCm39)	I198F	probably damaging	Het
Flnc	A	G	6: 29,444,049 (GRCm39)	D621G	probably benign	Het
Flt3	A	C	5: 147,291,732 (GRCm39)	Y573D	probably damaging	Het
Git2	A	T	5: 114,871,296 (GRCm39)	I603N	probably damaging	Het
Gm4559	C	T	7: 141,827,553 (GRCm39)	R183K	unknown	Het
Gnb5	T	C	9: 75,250,853 (GRCm39)	F326L	probably damaging	Het
Grm8	A	T	6: 27,760,257 (GRCm39)	W358R	possibly damaging	Het
Hoxa3	A	G	6: 52,149,253 (GRCm39)	V126A	unknown	Het
Hras	T	C	7: 140,772,064 (GRCm39)	T144A	possibly damaging	Het
Hyal1	G	A	9: 107,455,569 (GRCm39)	R293H	probably damaging	Het
Ifnlr1	A	G	4: 135,417,919 (GRCm39)	S49G	possibly damaging	Het
Ighv8-11	C	A	12: 115,531,005 (GRCm39)	C41F	probably benign	Het
Jakmip1	A	G	5: 37,291,617 (GRCm39)	T689A	probably damaging	Het
Kcnb1	T	C	2: 167,030,281 (GRCm39)	H88R	probably damaging	Het
Kcnt2	T	A	1: 140,498,199 (GRCm39)	M892K	probably benign	Het
Lrba	C	A	3: 86,648,773 (GRCm39)	S2507*	probably null	Het
Mbp	C	T	18: 82,572,499 (GRCm39)	T65I	probably damaging	Het
Muc2	A	T	7: 141,290,750 (GRCm39)	Y12F		Het
Muc4	T	A	16: 32,576,949 (GRCm39)	S80T		Het
Muc5ac	A	G	7: 141,349,991 (GRCm39)	D579G	possibly damaging	Het
Muc5b	A	G	7: 141,417,760 (GRCm39)	T3569A	possibly damaging	Het
Myb	C	T	10: 21,032,273 (GRCm39)	R36H	probably damaging	Het
Myo6	T	C	9: 80,171,548 (GRCm39)		probably null	Het
Ogfod1	T	C	8: 94,763,981 (GRCm39)	V22A	probably benign	Het
Orai3	A	G	7: 127,373,236 (GRCm39)	I246V	probably damaging	Het
Otog	A	G	7: 45,891,185 (GRCm39)	M68V	probably benign	Het
Pcdh20	T	A	14: 88,706,589 (GRCm39)	D237V	probably damaging	Het
Pcdhb18	T	C	18: 37,624,046 (GRCm39)	F459L	probably benign	Het
Pik3c2g	C	T	6: 139,599,070 (GRCm39)	T62M	possibly damaging	Het
Plaa	T	C	4: 94,470,876 (GRCm39)	Y420C	probably damaging	Het
Ppp1r9b	C	T	11: 94,892,768 (GRCm39)	A656V	probably benign	Het
Pramel39-ps	T	C	5: 94,451,236 (GRCm39)	T297A	probably benign	Het
Prg4	T	A	1: 150,330,696 (GRCm39)	E659V	unknown	Het
Prlhr	C	A	19: 60,455,583 (GRCm39)	A328S	probably benign	Het
Prlr	A	T	15: 10,328,464 (GRCm39)	D313V	probably benign	Het
Prune2	C	T	19: 17,097,772 (GRCm39)	T1092I	probably damaging	Het
Psme4	T	A	11: 30,787,334 (GRCm39)	L1043H	probably damaging	Het
Ptprr	T	C	10: 116,087,084 (GRCm39)	V521A	probably benign	Het
Rab44	A	T	17: 29,367,179 (GRCm39)	D703V	unknown	Het
Rpl9-ps1	A	T	11: 83,535,911 (GRCm39)	Y179*	probably null	Het
Scg3	T	A	9: 75,589,332 (GRCm39)	N107I	probably benign	Het
Sh3bgrl2	T	C	9: 83,430,525 (GRCm39)	V5A	possibly damaging	Het
Slc7a12	T	C	3: 14,546,509 (GRCm39)	V218A	probably benign	Het
Sorcs2	A	G	5: 36,185,322 (GRCm39)	L918P	probably damaging	Het
Sox1	C	A	8: 12,446,686 (GRCm39)	A109E	probably damaging	Het
Syne1	T	A	10: 5,155,074 (GRCm39)	M5622L	probably benign	Het
Syne1	A	T	10: 5,293,416 (GRCm39)	L1305Q	probably damaging	Het
Tacc2	A	T	7: 130,224,884 (GRCm39)	H523L	probably benign	Het
Tas1r2	A	T	4: 139,396,938 (GRCm39)	D788V	probably benign	Het
Tcl1b5	T	A	12: 105,142,694 (GRCm39)	D7E	possibly damaging	Het
Tesc	A	G	5: 118,194,666 (GRCm39)	D159G	possibly damaging	Het
Tm2d2	G	T	8: 25,507,316 (GRCm39)		probably benign	Het
Tnfrsf11a	T	A	1: 105,737,171 (GRCm39)	C93S	probably damaging	Het
Tnfsf4	T	C	1: 161,244,593 (GRCm39)	V94A	probably benign	Het
Trav13n-3	T	A	14: 53,574,964 (GRCm39)	Y69N	probably benign	Het
Utp20	T	C	10: 88,590,457 (GRCm39)	D2339G	probably benign	Het
Vmn1r225	A	G	17: 20,722,611 (GRCm39)	I17M	possibly damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r114	G	T	17: 23,509,986 (GRCm39)	Y831*	probably null	Het
Vmn2r72	T	A	7: 85,401,146 (GRCm39)	N91I	probably damaging	Het
Zfp846	T	C	9: 20,499,808 (GRCm39)	S13P	possibly damaging	Het
Zfp934	G	T	13: 62,666,327 (GRCm39)	N116K	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
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'- TTTCCTGACCCTGGCTTAGG -3'
(R):5'- ACCAAAGCCAATCTGAAGTGGG -3'

Sequencing Primer
(F):5'- CTTCCAAAGGCTCACTGTTAGAG -3'
(R):5'- CCAATCTGAAGTGGGAGGCAG -3'

Posted On

2019-10-24