Mutagenetix > Incidental Mutation

Incidental Mutation 'R8987:Drc1'

684083

Institutional Source

Beutler Lab

Gene Symbol

Drc1

Ensembl Gene

ENSMUSG00000073102

Gene Name

dynein regulatory complex subunit 1

Synonyms

Gm1060, Ccdc164, b2b1654Clo, LOC381738

MMRRC Submission

068819-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8987 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30486386-30524039 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30521439 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 700 (Y700F)

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: Y700F

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

SMART Domains

Protein: ENSMUSP00000098992
Gene: ENSMUSG00000073102
AA Change: Y700F

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: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

96% (123/128)

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: 128 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	T	C	5: 113,830,813 (GRCm39)	K59R	unknown	Het
Abcb4	T	C	5: 8,977,931 (GRCm39)	V503A	probably benign	Het
Actn4	A	G	7: 28,596,398 (GRCm39)	V699A	probably benign	Het
Adam26a	T	A	8: 44,022,358 (GRCm39)	K377N	probably benign	Het
Adam6b	C	T	12: 113,454,748 (GRCm39)	R522C	probably damaging	Het
Ahi1	A	G	10: 20,839,683 (GRCm39)	Y198C	probably damaging	Het
Ankrd44	G	A	1: 54,700,349 (GRCm39)	Q720*	probably null	Het
Arhgap26	A	T	18: 39,490,652 (GRCm39)	M297L		Het
Arhgef11	C	T	3: 87,637,788 (GRCm39)	T1093I	probably damaging	Het
Arhgef25	C	A	10: 127,018,735 (GRCm39)	R609S	probably damaging	Het
Arhgef28	G	T	13: 98,190,472 (GRCm39)	H162Q	possibly damaging	Het
Atg4b	A	G	1: 93,706,081 (GRCm39)	E178G	possibly damaging	Het
Atxn1l	T	C	8: 110,459,117 (GRCm39)	T382A	probably benign	Het
Bdp1	A	G	13: 100,204,021 (GRCm39)	V667A	probably benign	Het
C6	T	C	15: 4,844,344 (GRCm39)	I922T		Het
Ccdc191	A	G	16: 43,751,710 (GRCm39)	T347A	probably benign	Het
Cd22	G	T	7: 30,577,172 (GRCm39)	P45H	probably damaging	Het
Cdc45	A	G	16: 18,630,300 (GRCm39)	F6L	probably benign	Het
Cenpj	T	C	14: 56,764,383 (GRCm39)	E1343G	possibly damaging	Het
Chtf8	T	A	8: 107,612,735 (GRCm39)	N68I	probably benign	Het
Cldn8	C	T	16: 88,359,733 (GRCm39)	C64Y	probably damaging	Het
Cntnap2	G	T	6: 46,460,983 (GRCm39)	S673I	probably benign	Het
Cyp3a13	C	T	5: 137,909,849 (GRCm39)	R158K	probably benign	Het
Cyp3a57	A	T	5: 145,311,039 (GRCm39)		probably null	Het
Cyp3a57	G	T	5: 145,311,040 (GRCm39)		probably null	Het
D630045J12Rik	A	G	6: 38,173,898 (GRCm39)	I90T	probably benign	Het
Dapk2	A	G	9: 66,157,602 (GRCm39)		probably benign	Het
Dmxl1	A	G	18: 50,026,919 (GRCm39)	D2009G		Het
Dnah1	C	T	14: 31,033,704 (GRCm39)	V290I	possibly damaging	Het
Doc2g	A	T	19: 4,054,511 (GRCm39)		probably null	Het
Dpysl2	C	T	14: 67,045,402 (GRCm39)	G457D	probably damaging	Het
Ehbp1	A	G	11: 22,003,531 (GRCm39)	Y1073H	probably damaging	Het
Epm2aip1	T	A	9: 111,101,036 (GRCm39)	M3K	probably benign	Het
Erich3	G	A	3: 154,415,340 (GRCm39)	R152Q		Het
Exoc5	C	T	14: 49,252,986 (GRCm39)	R609H	probably damaging	Het
Fam135b	T	A	15: 71,334,189 (GRCm39)	T1002S	probably benign	Het
Fanca	C	T	8: 124,024,538 (GRCm39)	E528K	probably damaging	Het
Fsd2	C	A	7: 81,209,766 (GRCm39)	M25I	probably benign	Het
Fyco1	T	C	9: 123,658,139 (GRCm39)	E679G	possibly damaging	Het
Gas6	T	A	8: 13,520,294 (GRCm39)	M465L	probably damaging	Het
Gfra3	A	G	18: 34,823,879 (GRCm39)	V365A	probably benign	Het
Gm10269	T	G	18: 20,815,981 (GRCm39)	K14Q	possibly damaging	Het
Gm21798	G	A	15: 64,689,756 (GRCm39)		probably null	Het
Gm5916	T	A	9: 36,032,286 (GRCm39)	R49S	probably benign	Het
Gpam	G	T	19: 55,072,227 (GRCm39)	T266N	possibly damaging	Het
Gtse1	A	G	15: 85,753,109 (GRCm39)	E408G	probably benign	Het
Hmgcll1	A	T	9: 76,037,592 (GRCm39)		probably null	Het
Hspa12a	T	A	19: 58,787,903 (GRCm39)	R640*	probably null	Het
Hspa9	T	C	18: 35,080,982 (GRCm39)	D233G	probably damaging	Het
Htt	T	G	5: 34,977,368 (GRCm39)	I751M	probably benign	Het
Hydin	T	A	8: 111,239,766 (GRCm39)	Y2015*	probably null	Het
Ift43	A	C	12: 86,208,275 (GRCm39)	M138L	probably benign	Het
Il11	C	T	7: 4,779,029 (GRCm39)	V93M	probably damaging	Het
Iws1	T	A	18: 32,226,645 (GRCm39)	F741L	possibly damaging	Het
Jmy	A	T	13: 93,589,397 (GRCm39)	I620N	probably damaging	Het
Kap	T	A	6: 133,830,689 (GRCm39)		probably benign	Het
Kcnk15	A	G	2: 163,700,217 (GRCm39)	N152S	probably damaging	Het
Kif16b	C	T	2: 142,691,783 (GRCm39)		probably null	Het
Kif16b	T	C	2: 142,743,278 (GRCm39)	K5R	probably benign	Het
Kirrel1	C	T	3: 86,992,400 (GRCm39)	R555H	probably damaging	Het
Krt36	A	G	11: 99,994,372 (GRCm39)	V235A	possibly damaging	Het
Lca5	A	G	9: 83,283,796 (GRCm39)	S246P	probably damaging	Het
Maml1	T	C	11: 50,157,575 (GRCm39)	D200G	probably damaging	Het
Maml3	T	C	3: 51,597,868 (GRCm39)	R939G	probably damaging	Het
Mgam	A	T	6: 40,706,570 (GRCm39)	T74S	probably damaging	Het
Mib2	G	T	4: 155,745,351 (GRCm39)	D125E	probably benign	Het
Muc16	A	T	9: 18,462,981 (GRCm39)	L7407*	probably null	Het
Mycbp2	A	T	14: 103,446,232 (GRCm39)	N1865K	probably damaging	Het
Naip1	A	G	13: 100,563,434 (GRCm39)	L577S	probably damaging	Het
Nell1	A	T	7: 50,498,399 (GRCm39)	D652V	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nxph1	G	A	6: 8,950,312 (GRCm39)		probably benign	Het
Oas1h	T	A	5: 121,005,152 (GRCm39)	I200N	probably damaging	Het
Or2h2b-ps1	A	G	17: 37,480,867 (GRCm39)	L122P	probably damaging	Het
Or2h2b-ps1	A	T	17: 37,480,990 (GRCm39)	I81N	probably damaging	Het
Or8g53	A	T	9: 39,683,688 (GRCm39)	M136K	probably benign	Het
Otog	A	T	7: 45,936,878 (GRCm39)	Q1529L	probably benign	Het
Otop1	A	T	5: 38,457,071 (GRCm39)	I277F	probably damaging	Het
Pax5	G	A	4: 44,645,661 (GRCm39)	Q223*	probably null	Het
Pcdha9	T	A	18: 37,132,998 (GRCm39)	I689N	probably benign	Het
Pcsk6	A	T	7: 65,576,975 (GRCm39)	R138*	probably null	Het
Pitpnm3	A	T	11: 72,003,132 (GRCm39)	N59K	probably damaging	Het
Pla2g4d	G	A	2: 120,100,442 (GRCm39)	T630I	probably damaging	Het
Plekhg5	T	A	4: 152,188,372 (GRCm39)		probably benign	Het
Plxnb1	T	A	9: 108,937,178 (GRCm39)		probably benign	Het
Prss28	T	A	17: 25,528,395 (GRCm39)	L6H	probably damaging	Het
Pyroxd1	T	A	6: 142,302,251 (GRCm39)	V228E		Het
Ripk2	G	A	4: 16,123,699 (GRCm39)	T492M	possibly damaging	Het
Satb1	A	T	17: 52,112,381 (GRCm39)	C78S	probably damaging	Het
Scaf11	A	T	15: 96,316,557 (GRCm39)	C1002*	probably null	Het
Scarf2	A	C	16: 17,622,768 (GRCm39)	Q499P	probably damaging	Het
Selenbp1	T	A	3: 94,847,425 (GRCm39)	M244K	probably benign	Het
Sik2	T	C	9: 50,806,647 (GRCm39)	N921S	probably benign	Het
Slc25a1	A	T	16: 17,743,744 (GRCm39)	V290E	probably damaging	Het
Slc28a3	C	T	13: 58,719,254 (GRCm39)		probably benign	Het
Slc35b4	A	T	6: 34,137,442 (GRCm39)	D213E	probably benign	Het
Slc40a1	A	C	1: 45,950,495 (GRCm39)	M319R	probably damaging	Het
Slc8a1	A	T	17: 81,955,282 (GRCm39)	F585L	possibly damaging	Het
Slco3a1	T	A	7: 73,970,324 (GRCm39)	N428Y	possibly damaging	Het
Slfn2	G	A	11: 82,960,363 (GRCm39)	C114Y	probably damaging	Het
Smg5	T	C	3: 88,267,714 (GRCm39)		probably null	Het
Spata13	T	A	14: 60,993,896 (GRCm39)	L1116Q	possibly damaging	Het
Spmap1	C	T	11: 97,666,510 (GRCm39)	V59M	probably damaging	Het
Syne1	A	G	10: 5,177,579 (GRCm39)	V4965A	possibly damaging	Het
Tacc3	G	T	5: 33,826,169 (GRCm39)	V472F	possibly damaging	Het
Tacr3	T	A	3: 134,560,573 (GRCm39)	Y171N	probably damaging	Het
Tacr3	T	G	3: 134,560,718 (GRCm39)	L219R	probably damaging	Het
Tbx3	C	A	5: 119,818,886 (GRCm39)	A507E	possibly damaging	Het
Telo2	A	T	17: 25,324,402 (GRCm39)	D494E	probably damaging	Het
Tfip11	T	C	5: 112,484,921 (GRCm39)	F744S	possibly damaging	Het
Tgm3	A	C	2: 129,880,403 (GRCm39)	N403T	probably benign	Het
Thoc3	A	T	13: 54,615,708 (GRCm39)	S119T	possibly damaging	Het
Tmem176b	A	T	6: 48,812,530 (GRCm39)	I145N	probably damaging	Het
Trio	T	A	15: 27,732,773 (GRCm39)	Q3036L	probably benign	Het
Trpc4	T	C	3: 54,102,132 (GRCm39)	V10A	probably benign	Het
Trpm3	A	G	19: 22,896,124 (GRCm39)	Y987C	probably damaging	Het
Tspoap1	A	G	11: 87,654,394 (GRCm39)	K225E	probably damaging	Het
Txnrd3	A	T	6: 89,638,477 (GRCm39)	Q222L	possibly damaging	Het
Usp34	A	T	11: 23,414,267 (GRCm39)	M2756L		Het
Vmn2r81	C	T	10: 79,129,704 (GRCm39)	T865I	probably damaging	Het
Vnn1	A	G	10: 23,776,714 (GRCm39)	Y355C	probably damaging	Het
Wipf2	A	T	11: 98,783,092 (GRCm39)	S173C	probably damaging	Het
Wnt1	A	T	15: 98,689,624 (GRCm39)	H137L	probably damaging	Het
Xylt2	A	T	11: 94,561,278 (GRCm39)	C162S	probably damaging	Het
Zfp426	T	C	9: 20,387,744 (GRCm39)	E33G	probably damaging	Het
Zfp811	A	C	17: 33,017,801 (GRCm39)	C80G	possibly damaging	Het
Zfp931	T	C	2: 177,709,591 (GRCm39)	H265R	probably damaging	Het
Zfp931	G	A	2: 177,709,592 (GRCm39)	H265Y	probably 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
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
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'- AGGTAGAAACAGGCACTACTTTAAC -3'
(R):5'- GATTAGAAGCCAGGCCCTTG -3'

Sequencing Primer
(F):5'- AGGCACTACTTTAACTTCCAGGG -3'
(R):5'- GGAAGACCTGGGACACTTC -3'

Posted On

2021-10-11