Mutagenetix > Incidental Mutation

Incidental Mutation 'R1394:Drc3'

162754

Institutional Source

Beutler Lab

Gene Symbol

Drc3

Ensembl Gene

ENSMUSG00000056598

Gene Name

dynein regulatory complex subunit 3

Synonyms

Lrrc48, m6Bei, 4930449E07Rik

MMRRC Submission

039456-MU

Accession Numbers

Essential gene?

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

Stock #

R1394 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60244155-60285167 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60284545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 450 (I450T)

Ref Sequence

ENSEMBL: ENSMUSP00000104363 (fasta)

Gene Model

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

AlphaFold

Q9D5E4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108722
AA Change: I450T

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104362
Gene: ENSMUSG00000056598
AA Change: I450T

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: I450T

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104363
Gene: ENSMUSG00000056598
AA Change: I450T

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

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	G	5: 113,249,362 (GRCm39)	Y122H	probably damaging	Het
Ankrd27	T	C	7: 35,315,294 (GRCm39)	F481S	possibly damaging	Het
Casd1	T	G	6: 4,624,117 (GRCm39)	C303W	probably damaging	Het
Cep128	C	T	12: 91,233,754 (GRCm39)	R438Q	probably benign	Het
Cep192	A	G	18: 67,991,992 (GRCm39)	T1957A	probably damaging	Het
Cep290	T	C	10: 100,373,391 (GRCm39)	S1224P	possibly damaging	Het
Col5a2	A	G	1: 45,442,579 (GRCm39)		probably null	Het
Cwc22	G	A	2: 77,759,823 (GRCm39)	R75C	possibly damaging	Het
Cyp4a30b	A	T	4: 115,328,089 (GRCm39)		probably null	Het
Dnah11	T	C	12: 117,936,099 (GRCm39)	D3298G	possibly damaging	Het
Dst	T	C	1: 34,204,236 (GRCm39)		probably null	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Emilin2	G	T	17: 71,560,066 (GRCm39)	D970E	possibly damaging	Het
Fcgbp	A	G	7: 27,792,804 (GRCm39)	H936R	probably damaging	Het
Fkbp15	T	A	4: 62,246,109 (GRCm39)	M440L	probably benign	Het
Fryl	T	C	5: 73,230,255 (GRCm39)	H1634R	probably damaging	Het
Gm44511	G	A	6: 128,797,293 (GRCm39)	S32L	possibly damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Ift81	G	T	5: 122,706,986 (GRCm39)	D485E	probably benign	Het
Ipp	T	A	4: 116,395,109 (GRCm39)	L548*	probably null	Het
Itm2a	C	T	X: 106,441,807 (GRCm39)	V200I	possibly damaging	Het
Kank1	A	G	19: 25,405,528 (GRCm39)	N1182S	probably damaging	Het
Mkks	C	T	2: 136,722,882 (GRCm39)	G92S	probably damaging	Het
Mybbp1a	C	T	11: 72,334,474 (GRCm39)	P243L	probably damaging	Het
Myo1f	A	G	17: 33,802,714 (GRCm39)	D386G	probably damaging	Het
Obsl1	T	C	1: 75,469,309 (GRCm39)	S109G	probably damaging	Het
Or6z6	T	A	7: 6,491,361 (GRCm39)	T171S	probably damaging	Het
Or9s13	T	A	1: 92,548,267 (GRCm39)	I213N	probably benign	Het
Pcdh12	A	G	18: 38,414,242 (GRCm39)		probably null	Het
Phlpp1	T	C	1: 106,278,348 (GRCm39)	V920A	possibly damaging	Het
Phlpp2	T	A	8: 110,603,662 (GRCm39)	C109*	probably null	Het
Prickle2	T	A	6: 92,353,363 (GRCm39)	H701L	possibly damaging	Het
Psen1	G	A	12: 83,771,346 (GRCm39)	G209R	probably damaging	Het
Psg19	T	C	7: 18,530,983 (GRCm39)	N57S	probably damaging	Het
Rdh12	A	G	12: 79,255,839 (GRCm39)	T9A	probably benign	Het
Rgma	G	T	7: 73,067,542 (GRCm39)	A360S	probably benign	Het
Scyl2	T	A	10: 89,476,827 (GRCm39)	K766M	possibly damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Spata31e5	T	C	1: 28,815,890 (GRCm39)	E714G	possibly damaging	Het
Spata46	A	G	1: 170,139,573 (GRCm39)	T191A	probably benign	Het
Spin1	T	C	13: 51,298,517 (GRCm39)	Y179H	probably damaging	Het
Tecpr1	T	C	5: 144,143,357 (GRCm39)	T673A	possibly damaging	Het
Tenm3	T	A	8: 48,729,435 (GRCm39)	M1508L	probably benign	Het
Vasn	C	T	16: 4,467,576 (GRCm39)	R508*	probably null	Het
Vmn2r15	T	A	5: 109,442,014 (GRCm39)	I140L	probably benign	Het
Wdr44	T	G	X: 23,662,298 (GRCm39)	C645G	probably damaging	Het
Zfand1	G	T	3: 10,411,269 (GRCm39)	T62K	probably benign	Het
Zfy1	C	T	Y: 725,957 (GRCm39)	V603I	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
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
R6143:Drc3	UTSW	11	60,261,406 (GRCm39)	missense	possibly damaging	0.82
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'- TGAGCTGGCACAAAGTGACTGATAG -3'
(R):5'- AGGAATGACTGGACCATACCACCTG -3'

Sequencing Primer
(F):5'- ATAGAGTATGGGCTCTCTGCTAAG -3'
(R):5'- TGGACCATACCACCTGCATTG -3'

Posted On

2014-03-17