Mutagenetix > Incidental Mutation

Incidental Mutation 'R1221:Drc3'

100117

Institutional Source

Beutler Lab

Gene Symbol

Drc3

Ensembl Gene

ENSMUSG00000056598

Gene Name

dynein regulatory complex subunit 3

Synonyms

Lrrc48, m6Bei, 4930449E07Rik

MMRRC Submission

039290-MU

Accession Numbers

Essential gene?

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

Stock #

R1221 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60244155-60285167 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 60275052 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 338 (I338L)

Ref Sequence

ENSEMBL: ENSMUSP00000104363 (fasta)

Gene Model

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

AlphaFold

Q9D5E4

Predicted Effect

probably benign
Transcript: ENSMUST00000108722
AA Change: I338L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104362
Gene: ENSMUSG00000056598
AA Change: I338L

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

probably benign
Transcript: ENSMUST00000108723
AA Change: I338L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104363
Gene: ENSMUSG00000056598
AA Change: I338L

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: 99.2%
3x: 98.4%
10x: 96.7%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	C	6: 86,942,460 (GRCm39)	S668P	unknown	Het
Anks1	A	G	17: 28,269,616 (GRCm39)	Q770R	possibly damaging	Het
Apc2	G	A	10: 80,142,214 (GRCm39)	V378I	probably damaging	Het
Apeh	A	G	9: 107,969,808 (GRCm39)	V184A	probably benign	Het
AU018091	A	G	7: 3,208,717 (GRCm39)	F404S	probably damaging	Het
Bap1	T	C	14: 30,979,608 (GRCm39)	L537P	probably damaging	Het
Bhlha15	A	G	5: 144,128,341 (GRCm39)	Y151C	probably damaging	Het
Bmp8b	A	T	4: 123,008,504 (GRCm39)	T157S	probably damaging	Het
Btbd1	G	T	7: 81,468,005 (GRCm39)	H172N	possibly damaging	Het
C1rl	A	G	6: 124,470,940 (GRCm39)	R83G	probably benign	Het
Cep104	A	G	4: 154,072,902 (GRCm39)	T387A	probably benign	Het
Cfi	A	T	3: 129,666,618 (GRCm39)	Q447L	probably damaging	Het
Cimap1a	G	T	7: 140,428,296 (GRCm39)	W10L	probably damaging	Het
Coq6	A	G	12: 84,418,301 (GRCm39)	E295G	possibly damaging	Het
Dclre1a	T	C	19: 56,519,700 (GRCm39)	T978A	possibly damaging	Het
Dlc1	T	C	8: 37,051,985 (GRCm39)	D582G	probably benign	Het
Dlgap2	A	G	8: 14,776,952 (GRCm39)	T65A	probably benign	Het
Dock5	G	A	14: 67,996,610 (GRCm39)	S1711L	probably benign	Het
Dsc1	A	T	18: 20,247,599 (GRCm39)	C5*	probably null	Het
F5	A	G	1: 163,989,368 (GRCm39)	Y90C	probably damaging	Het
Gdf10	G	A	14: 33,654,710 (GRCm39)	A406T	probably benign	Het
Gm136	G	T	4: 34,744,127 (GRCm39)	A239E	possibly damaging	Het
Gm4952	A	T	19: 12,601,059 (GRCm39)	D93V	possibly damaging	Het
Gramd1c	T	C	16: 43,810,227 (GRCm39)	T454A	possibly damaging	Het
Gstm6	A	G	3: 107,848,418 (GRCm39)	I58T	probably damaging	Het
Kdm3b	C	T	18: 34,941,298 (GRCm39)	S263L	possibly damaging	Het
Kdm5b	G	C	1: 134,526,829 (GRCm39)	S317T	probably damaging	Het
Myo15b	A	G	11: 115,777,546 (GRCm39)	R71G	possibly damaging	Het
Nlrp1b	G	A	11: 71,072,290 (GRCm39)	P518S	probably benign	Het
Nme5	A	T	18: 34,704,575 (GRCm39)	I90N	probably damaging	Het
Nrxn1	T	A	17: 90,950,722 (GRCm39)	T478S	probably damaging	Het
Or8g22	A	C	9: 38,958,483 (GRCm39)	D77E	probably damaging	Het
Osmr	G	A	15: 6,853,042 (GRCm39)	Q617*	probably null	Het
Pcsk5	T	C	19: 17,814,512 (GRCm39)	D2G	possibly damaging	Het
Pdpn	G	A	4: 143,000,608 (GRCm39)	R75C	probably damaging	Het
Pidd1	A	T	7: 141,018,725 (GRCm39)	F842Y	probably damaging	Het
Resf1	T	A	6: 149,227,719 (GRCm39)	V255E	probably benign	Het
Sema3a	A	G	5: 13,566,190 (GRCm39)	Q158R	probably benign	Het
Setbp1	T	A	18: 78,899,798 (GRCm39)	R1290W	probably damaging	Het
Slc20a1	G	A	2: 129,050,324 (GRCm39)	G494D	probably benign	Het
Spag17	A	G	3: 99,889,584 (GRCm39)	E151G	possibly damaging	Het
Stt3b	A	G	9: 115,086,567 (GRCm39)	F351L	probably benign	Het
Tas1r2	A	G	4: 139,396,436 (GRCm39)	M592V	probably benign	Het
Tbcd	A	G	11: 121,387,909 (GRCm39)	T347A	probably benign	Het
Tmem109	C	A	19: 10,851,733 (GRCm39)	R37L	possibly damaging	Het
Tmem67	G	A	4: 12,045,871 (GRCm39)	S862L	possibly damaging	Het
Ttn	T	A	2: 76,781,857 (GRCm39)	D1017V	probably damaging	Het
Zfp646	G	A	7: 127,482,292 (GRCm39)	G1490S	probably benign	Het
Zfyve16	T	C	13: 92,644,813 (GRCm39)	S1130G	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
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
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'- TAGCACATGGCAGGCTGACACT -3'
(R):5'- TGTGGCCCTGGATGAAGGCAAA -3'

Sequencing Primer
(F):5'- CAGGCTGACACTTGAACTTGG -3'
(R):5'- gcaccgttcgcctttttc -3'

Posted On

2014-01-15