Mutagenetix > Incidental Mutation

Incidental Mutation 'R6143:Drc3'

488691

Institutional Source

Beutler Lab

Gene Symbol

Drc3

Ensembl Gene

ENSMUSG00000056598

Gene Name

dynein regulatory complex subunit 3

Synonyms

Lrrc48, m6Bei, 4930449E07Rik

MMRRC Submission

044290-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R6143 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60244155-60285167 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 60261406 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 186 (V186M)

Ref Sequence

ENSEMBL: ENSMUSP00000104363 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070805] [ENSMUST00000094140] [ENSMUST00000108722] [ENSMUST00000108723]

AlphaFold

Q9D5E4

Predicted Effect

probably benign
Transcript: ENSMUST00000070805
AA Change: V186M

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000065525
Gene: ENSMUSG00000056598
AA Change: V186M

Domain	Start	End	E-Value	Type
low complexity region	66	75	N/A	INTRINSIC
LRR	86	106	9.24e1	SMART
LRR	108	129	1.71e1	SMART
LRR	130	153	1.49e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000094140
AA Change: V186M

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000091691
Gene: ENSMUSG00000056598
AA Change: V186M

Domain	Start	End	E-Value	Type
low complexity region	66	75	N/A	INTRINSIC
LRR	86	106	9.24e1	SMART
LRR	108	129	1.71e1	SMART
LRR	130	153	1.49e1	SMART
low complexity region	216	235	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108722
AA Change: V186M

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104362
Gene: ENSMUSG00000056598
AA Change: V186M

Domain	Start	End	E-Value	Type
low complexity region	66	75	N/A	INTRINSIC
LRR	86	106	9.24e1	SMART
LRR	108	129	1.71e1	SMART
LRR	130	153	1.49e1	SMART
low complexity region	216	235	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108723
AA Change: V186M

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104363
Gene: ENSMUSG00000056598
AA Change: V186M

Domain	Start	End	E-Value	Type
low complexity region	66	75	N/A	INTRINSIC
LRR	86	106	9.24e1	SMART
LRR	108	129	1.71e1	SMART
LRR	130	153	1.49e1	SMART
low complexity region	216	235	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128905

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730061H03Rik	A	G	14: 55,797,736 (GRCm39)		probably benign	Het
Abcd2	A	T	15: 91,075,150 (GRCm39)	V221E	possibly damaging	Het
Arhgap39	T	A	15: 76,614,606 (GRCm39)	K853*	probably null	Het
Art2a	T	C	7: 101,204,430 (GRCm39)	D36G	possibly damaging	Het
Atp13a1	C	T	8: 70,258,010 (GRCm39)	P922S	probably benign	Het
Brwd1	C	T	16: 95,804,156 (GRCm39)	G2005R	probably benign	Het
Bzw2	A	T	12: 36,170,725 (GRCm39)	M133K	probably benign	Het
Cacna1s	T	G	1: 136,004,496 (GRCm39)	S346A	probably damaging	Het
Cebpb	C	A	2: 167,531,220 (GRCm39)	D93E	probably benign	Het
Cep162	C	A	9: 87,094,904 (GRCm39)		probably null	Het
Col9a2	A	T	4: 120,911,060 (GRCm39)	Y565F	probably damaging	Het
Csgalnact1	T	A	8: 68,826,202 (GRCm39)	N372I	probably damaging	Het
Csmd1	T	C	8: 16,138,315 (GRCm39)	D1579G	probably damaging	Het
Cyfip2	A	C	11: 46,144,792 (GRCm39)	Y687*	probably null	Het
Cyp2d34	G	A	15: 82,504,977 (GRCm39)	R28W	probably benign	Het
Dbndd2	C	A	2: 164,330,206 (GRCm39)	Q13K	probably damaging	Het
Dnah5	T	A	15: 28,233,377 (GRCm39)	S245R	probably benign	Het
Dnajb5	A	T	4: 42,956,990 (GRCm39)	T226S	probably damaging	Het
Dnmt1	T	C	9: 20,838,430 (GRCm39)	E211G	probably benign	Het
Dnpep	G	A	1: 75,291,872 (GRCm39)	H214Y	probably damaging	Het
Dvl3	A	G	16: 20,345,789 (GRCm39)	D413G	possibly damaging	Het
Dyrk4	C	T	6: 126,863,614 (GRCm39)		probably null	Het
Edc4	T	A	8: 106,612,506 (GRCm39)	D181E	probably damaging	Het
Enthd1	T	C	15: 80,393,487 (GRCm39)	Y247C	possibly damaging	Het
Gm5622	A	T	14: 51,892,372 (GRCm39)	R50S	possibly damaging	Het
Gpbp1	G	A	13: 111,603,389 (GRCm39)	T20I	probably damaging	Het
Hnrnpdl	A	T	5: 100,184,410 (GRCm39)	Y276*	probably null	Het
Hsd3b7	A	C	7: 127,400,404 (GRCm39)	E51A	probably damaging	Het
Ighv5-16	G	T	12: 113,802,238 (GRCm39)	F87L	probably damaging	Het
Iqsec1	C	T	6: 90,786,666 (GRCm39)		probably null	Het
Irgm2	A	T	11: 58,111,435 (GRCm39)	E387D	possibly damaging	Het
Klhl23	C	A	2: 69,664,040 (GRCm39)	P463Q	possibly damaging	Het
Mast4	A	T	13: 102,990,391 (GRCm39)	N43K	probably damaging	Het
Mme	T	G	3: 63,207,532 (GRCm39)		probably null	Het
Mrps31	T	G	8: 22,901,539 (GRCm39)	S20A	probably benign	Het
Myo5c	A	G	9: 75,157,091 (GRCm39)	R176G	probably damaging	Het
Naf1	T	C	8: 67,330,347 (GRCm39)	V291A	possibly damaging	Het
Nbeal1	A	T	1: 60,290,466 (GRCm39)	H1021L	possibly damaging	Het
Ncaph2	T	C	15: 89,248,206 (GRCm39)		probably null	Het
Neurod4	T	G	10: 130,106,869 (GRCm39)	Y135S	probably damaging	Het
Nrp2	A	T	1: 62,799,974 (GRCm39)	N396I	probably damaging	Het
Nvl	T	G	1: 180,962,560 (GRCm39)	T137P	probably benign	Het
Or5p59	A	G	7: 107,703,335 (GRCm39)	D273G	probably damaging	Het
Papola	T	C	12: 105,793,219 (GRCm39)	V513A	probably benign	Het
Pcdhgc4	T	A	18: 37,950,653 (GRCm39)	S690T	possibly damaging	Het
Pck1	A	T	2: 172,995,805 (GRCm39)	D101V	probably damaging	Het
Pdilt	T	A	7: 119,094,265 (GRCm39)	N329Y	probably damaging	Het
Pfkl	T	A	10: 77,825,447 (GRCm39)	R648W	probably damaging	Het
Prtn3	T	A	10: 79,716,382 (GRCm39)	I63N	probably damaging	Het
Psg22	C	T	7: 18,456,723 (GRCm39)	A163V	probably benign	Het
Pten	A	G	19: 32,777,485 (GRCm39)	T160A	possibly damaging	Het
Retreg2	A	G	1: 75,123,530 (GRCm39)	D449G	probably damaging	Het
Scn9a	T	C	2: 66,317,868 (GRCm39)	Y1531C	probably benign	Het
Sgk2	T	A	2: 162,841,174 (GRCm39)	C195S	probably damaging	Het
Slc19a3	C	T	1: 83,004,060 (GRCm39)	V14I	probably benign	Het
Snai2	A	T	16: 14,526,107 (GRCm39)	R253*	probably null	Het
Speg	G	A	1: 75,391,031 (GRCm39)	V1512I	probably damaging	Het
Srsf1	G	A	11: 87,940,425 (GRCm39)		probably benign	Het
Tctn3	G	T	19: 40,597,671 (GRCm39)	T190N	probably benign	Het
Tmprss11f	T	A	5: 86,687,558 (GRCm39)	I117L	probably benign	Het
Ttn	G	A	2: 76,682,413 (GRCm39)	R959*	probably null	Het
Vmn2r118	G	T	17: 55,899,871 (GRCm39)	L678I	possibly damaging	Het
Vps13b	T	C	15: 35,668,884 (GRCm39)	S1594P	probably damaging	Het
Vps13d	G	T	4: 144,875,135 (GRCm39)	H1791N	possibly damaging	Het

Other mutations in Drc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01319:Drc3	APN	11	60,255,788 (GRCm39)	missense	probably null	0.70
IGL01457:Drc3	APN	11	60,249,475 (GRCm39)	utr 5 prime	probably benign
IGL02329:Drc3	APN	11	60,261,404 (GRCm39)	missense	probably damaging	1.00
IGL02576:Drc3	APN	11	60,261,377 (GRCm39)	missense	probably benign	0.01
IGL02610:Drc3	APN	11	60,261,419 (GRCm39)	missense	probably benign	0.40
IGL02817:Drc3	APN	11	60,275,062 (GRCm39)	missense	probably benign	0.16
IGL03380:Drc3	APN	11	60,268,731 (GRCm39)	missense	probably benign	0.01
R0020:Drc3	UTSW	11	60,261,371 (GRCm39)	missense	probably damaging	1.00
R1221:Drc3	UTSW	11	60,275,052 (GRCm39)	missense	probably benign
R1394:Drc3	UTSW	11	60,284,545 (GRCm39)	missense	possibly damaging	0.94
R1483:Drc3	UTSW	11	60,279,715 (GRCm39)	missense	probably benign	0.00
R2093:Drc3	UTSW	11	60,261,310 (GRCm39)	missense	probably damaging	1.00
R2151:Drc3	UTSW	11	60,265,983 (GRCm39)	missense	probably benign	0.15
R4631:Drc3	UTSW	11	60,255,734 (GRCm39)	missense	probably benign	0.02
R4796:Drc3	UTSW	11	60,254,354 (GRCm39)	missense	probably damaging	1.00
R4841:Drc3	UTSW	11	60,261,361 (GRCm39)	missense	probably benign	0.00
R4842:Drc3	UTSW	11	60,261,361 (GRCm39)	missense	probably benign	0.00
R5739:Drc3	UTSW	11	60,265,956 (GRCm39)	missense	possibly damaging	0.89
R5766:Drc3	UTSW	11	60,284,647 (GRCm39)	missense	probably benign	0.18
R6298:Drc3	UTSW	11	60,284,596 (GRCm39)	missense	possibly damaging	0.74
R6558:Drc3	UTSW	11	60,255,718 (GRCm39)	missense	probably damaging	1.00
R6611:Drc3	UTSW	11	60,255,773 (GRCm39)	missense	probably damaging	0.99
R6938:Drc3	UTSW	11	60,284,949 (GRCm39)	critical splice acceptor site	probably null
R7013:Drc3	UTSW	11	60,278,129 (GRCm39)	missense	probably benign	0.00
R7108:Drc3	UTSW	11	60,261,380 (GRCm39)	missense	probably benign	0.13
R7640:Drc3	UTSW	11	60,279,730 (GRCm39)	missense	probably benign
R7713:Drc3	UTSW	11	60,261,386 (GRCm39)	missense	probably benign
R9188:Drc3	UTSW	11	60,249,615 (GRCm39)	missense	probably damaging	1.00
R9500:Drc3	UTSW	11	60,261,334 (GRCm39)	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- TGACTATATGCAGGGTGCCC -3'
(R):5'- CCTTGGGAGACTATTGCTGG -3'

Sequencing Primer
(F):5'- CAGGTTGTGGACTCAGGAAG -3'
(R):5'- CTGGAGTGGCTGTGCACAG -3'

Posted On

2017-10-10