Mutagenetix > Incidental Mutation

Incidental Mutation 'R6755:Drc1'

530998

Institutional Source

Beutler Lab

Gene Symbol

Drc1

Ensembl Gene

ENSMUSG00000073102

Gene Name

dynein regulatory complex subunit 1

Synonyms

Gm1060, Ccdc164, b2b1654Clo, LOC381738

MMRRC Submission

044871-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6755 (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 30512490 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 299 (E299G)

Ref Sequence

ENSEMBL: ENSMUSP00000098992 (fasta)

Gene Model

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

AlphaFold

Q3USS3

Predicted Effect

probably damaging
Transcript: ENSMUST00000101448
AA Change: E299G

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

SMART Domains

Protein: ENSMUSP00000098992
Gene: ENSMUSG00000073102
AA Change: E299G

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

noncoding transcript
Transcript: ENSMUST00000198023

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200183

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.9%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,475,994 (GRCm39)	T1101M	probably benign	Het
4930433I11Rik	T	C	7: 40,643,734 (GRCm39)	S468P	probably damaging	Het
Adam33	A	G	2: 130,895,069 (GRCm39)	V637A	probably damaging	Het
Adcy5	G	A	16: 35,124,004 (GRCm39)	V1228M	possibly damaging	Het
Ahi1	G	T	10: 20,893,812 (GRCm39)	V848F	probably damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
B4galt6	T	C	18: 20,822,386 (GRCm39)	E264G	probably benign	Het
Bpifb4	A	G	2: 153,799,658 (GRCm39)	T556A	probably damaging	Het
Bptf	A	T	11: 106,938,082 (GRCm39)	S64T	probably benign	Het
C3ar1	A	G	6: 122,826,817 (GRCm39)	S467P	probably benign	Het
Cables1	G	T	18: 12,072,882 (GRCm39)	S479I	probably null	Het
Cbl	T	C	9: 44,084,671 (GRCm39)	I155V	probably damaging	Het
Cdh16	T	C	8: 105,345,880 (GRCm39)	D297G	probably damaging	Het
Cdk8	T	A	5: 146,205,126 (GRCm39)	H102Q	probably damaging	Het
Cpn2	A	T	16: 30,079,149 (GRCm39)	L184Q	probably damaging	Het
Ctso	T	A	3: 81,849,609 (GRCm39)	H109Q	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Elp6	A	G	9: 110,144,893 (GRCm39)	E150G	possibly damaging	Het
Fat3	C	T	9: 15,826,357 (GRCm39)	E4532K	possibly damaging	Het
Fbn2	A	G	18: 58,246,405 (GRCm39)	L499S	possibly damaging	Het
Fgf10	C	A	13: 118,925,821 (GRCm39)	A200D	probably damaging	Het
Fhad1	T	C	4: 141,691,915 (GRCm39)	E407G	probably damaging	Het
Hif1an	T	C	19: 44,556,891 (GRCm39)	V232A	probably damaging	Het
Ift172	T	A	5: 31,418,342 (GRCm39)	K1214*	probably null	Het
Il20ra	T	C	10: 19,626,542 (GRCm39)	Y189H	probably benign	Het
Isg20l2	T	A	3: 87,838,996 (GRCm39)	I69N	probably benign	Het
Kif11	A	G	19: 37,398,199 (GRCm39)	D675G	probably benign	Het
Klhdc7a	T	A	4: 139,693,786 (GRCm39)	D387V	possibly damaging	Het
Lrrc4	T	C	6: 28,831,292 (GRCm39)	N108D	probably damaging	Het
Ltbp2	T	A	12: 84,841,847 (GRCm39)	E944V	probably damaging	Het
Magi1	C	T	6: 93,685,158 (GRCm39)	S740N	probably damaging	Het
Med26	A	G	8: 73,249,677 (GRCm39)	I474T	probably damaging	Het
Mgst1	T	A	6: 138,124,770 (GRCm39)	M68K	probably damaging	Het
Myh7	G	A	14: 55,229,770 (GRCm39)	A91V	possibly damaging	Het
Nhlrc2	G	A	19: 56,580,216 (GRCm39)	V450I	probably benign	Het
Nup160	T	G	2: 90,530,800 (GRCm39)	F486C	probably damaging	Het
Nup50l	T	C	6: 96,141,953 (GRCm39)	T364A	probably benign	Het
Obscn	A	T	11: 58,994,152 (GRCm39)	Y1602N	probably damaging	Het
Or52ae9	T	A	7: 103,389,707 (GRCm39)	T247S	probably damaging	Het
Or5ak4	C	A	2: 85,162,142 (GRCm39)	M33I	probably benign	Het
Otogl	A	T	10: 107,689,164 (GRCm39)	Y955*	probably null	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Pianp	T	C	6: 124,976,347 (GRCm39)	V52A	probably benign	Het
Plekhh2	T	C	17: 84,899,013 (GRCm39)	Y997H	probably damaging	Het
Plekhm1	G	T	11: 103,278,069 (GRCm39)	S342R	possibly damaging	Het
Poglut2	C	T	1: 44,149,894 (GRCm39)		probably null	Het
Ppp4r4	T	A	12: 103,551,996 (GRCm39)	V81E	probably damaging	Het
Pramel52-ps	A	G	5: 94,529,268 (GRCm39)	T13A	probably benign	Het
Ptafr	A	G	4: 132,306,657 (GRCm39)	T16A	probably benign	Het
Ptpn23	A	T	9: 110,218,855 (GRCm39)	L445Q	probably damaging	Het
Rasa1	A	T	13: 85,374,717 (GRCm39)	F751L	possibly damaging	Het
Sap18	A	C	14: 58,039,474 (GRCm39)	D153A	probably damaging	Het
Slc38a11	C	T	2: 65,194,235 (GRCm39)	G10D	probably benign	Het
Snx32	T	C	19: 5,560,372 (GRCm39)	N10D	probably benign	Het
Sox6	T	C	7: 115,261,677 (GRCm39)	T180A	probably damaging	Het
Srrt	T	C	5: 137,301,192 (GRCm39)	K78R	probably damaging	Het
Syce3	T	C	15: 89,281,567 (GRCm39)	D24G	probably damaging	Het
Taok3	T	A	5: 117,344,732 (GRCm39)	I153N	probably damaging	Het
Tesk1	A	G	4: 43,445,991 (GRCm39)	Q308R	probably benign	Het
Tm7sf3	A	T	6: 146,511,471 (GRCm39)		probably null	Het
Tmbim6	T	C	15: 99,300,034 (GRCm39)	V50A	probably benign	Het
Tmem107	T	C	11: 68,961,837 (GRCm39)	V22A	probably damaging	Het
Ttc12	T	C	9: 49,364,646 (GRCm39)	I377V	probably benign	Het
Ufl1	T	A	4: 25,262,316 (GRCm39)	N310I	probably damaging	Het
Ush2a	C	A	1: 188,175,416 (GRCm39)	N1171K	possibly damaging	Het
Utrn	A	T	10: 12,574,831 (GRCm39)	V1032E	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
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'- GGTGAACAGCTATTTACTATGTGATTA -3'
(R):5'- AAGGTCCAGAAAGCAAGCCG -3'

Sequencing Primer
(F):5'- ATGCCTCTGTGTGTGTGTCTC -3'
(R):5'- TGCTCACCCGGGCATTTG -3'

Posted On

2018-08-01