Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01319:Drc3'

73988

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Drc3

Ensembl Gene

ENSMUSG00000056598

Gene Name

dynein regulatory complex subunit 3

Synonyms

4930449E07Rik, Lrrc48, m6Bei

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

IGL01319

Quality Score

Status

Chromosome

Chromosomal Location

60353329-60394341 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60364962 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 125 (D125G)

Ref Sequence

ENSEMBL: ENSMUSP00000091691 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000070805
AA Change: D125G

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000065525
Gene: ENSMUSG00000056598
AA Change: D125G

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 null
Transcript: ENSMUST00000094140
AA Change: D125G

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000091691
Gene: ENSMUSG00000056598
AA Change: D125G

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 null
Transcript: ENSMUST00000108722
AA Change: D125G

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000104362
Gene: ENSMUSG00000056598
AA Change: D125G

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 null
Transcript: ENSMUST00000108723
AA Change: D125G

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000104363
Gene: ENSMUSG00000056598
AA Change: D125G

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	T	A	3: 40,933,642	V307E	probably benign	Het
Bub1b	T	C	2: 118,614,994	I265T	possibly damaging	Het
Cntnap3	G	A	13: 64,787,837	T404I	probably damaging	Het
Disc1	T	C	8: 125,087,891	S165P	probably damaging	Het
Dock1	T	C	7: 134,789,278	F756L	probably benign	Het
Dock2	A	G	11: 34,698,790	V480A	possibly damaging	Het
Emid1	C	T	11: 5,143,859	C96Y	probably damaging	Het
F13b	A	G	1: 139,506,793	N99S	probably damaging	Het
Fam20a	A	G	11: 109,678,458		probably benign	Het
Fancd2	C	A	6: 113,584,899	T1243K	probably damaging	Het
Fbxw14	T	C	9: 109,278,791	K172E	probably damaging	Het
Gm13941	T	C	2: 111,094,805		probably null	Het
Gtpbp4	A	T	13: 8,985,260	N354K	probably benign	Het
Igkv2-116	T	C	6: 68,152,404	L50P	probably benign	Het
Klrb1-ps1	C	T	6: 129,116,585	P23L	possibly damaging	Het
Kng2	T	A	16: 23,028,834	I26F	probably damaging	Het
Krt81	G	A	15: 101,463,388	H104Y	probably benign	Het
Lrpprc	T	C	17: 84,705,412		probably benign	Het
Man2a2	C	T	7: 80,361,132	V704M	possibly damaging	Het
Mbip	A	G	12: 56,330,242	V303A	probably benign	Het
Mipep	A	T	14: 60,843,271	M571L	probably benign	Het
Ncan	A	T	8: 70,097,562	V1188D	probably damaging	Het
Pcdhb4	T	C	18: 37,308,513	V292A	probably benign	Het
Pkd1	T	C	17: 24,587,919		probably benign	Het
Ppp2r2c	T	A	5: 36,947,121	S282T	possibly damaging	Het
Rad54l2	C	T	9: 106,719,046	G231D	probably benign	Het
Rnf20	T	G	4: 49,649,326	D443E	probably damaging	Het
Rptor	A	G	11: 119,891,170	M1108V	probably benign	Het
Serpine2	A	G	1: 79,810,694	V182A	probably damaging	Het
Sesn2	C	T	4: 132,499,967		probably benign	Het
Shank1	C	A	7: 44,353,123	A1422E	possibly damaging	Het
Slc13a4	C	T	6: 35,307,353		probably null	Het
Snrnp200	T	C	2: 127,230,127		probably benign	Het
Src	G	A	2: 157,469,503	G461R	probably damaging	Het
Tbxas1	A	G	6: 39,017,973	I178V	probably benign	Het
Tmem2	C	T	19: 21,844,757	P1172L	possibly damaging	Het
Triml1	A	G	8: 43,141,397		probably benign	Het
Tsen2	A	T	6: 115,576,984	Q441L	probably damaging	Het
Ttc23l	A	G	15: 10,509,406		probably benign	Het
Ttc37	A	G	13: 76,129,379	H491R	probably benign	Het
Ttn	T	C	2: 76,881,304		probably benign	Het
Vsig10l	C	T	7: 43,465,254	S293L	probably damaging	Het
Zcchc13	C	A	X: 103,631,000	Q110K	possibly damaging	Het

Other mutations in Drc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01457:Drc3	APN	11	60358649	utr 5 prime	probably benign
IGL02329:Drc3	APN	11	60370578	missense	probably damaging	1.00
IGL02576:Drc3	APN	11	60370551	missense	probably benign	0.01
IGL02610:Drc3	APN	11	60370593	missense	probably benign	0.40
IGL02817:Drc3	APN	11	60384236	missense	probably benign	0.16
IGL03380:Drc3	APN	11	60377905	missense	probably benign	0.01
R0020:Drc3	UTSW	11	60370545	missense	probably damaging	1.00
R1221:Drc3	UTSW	11	60384226	missense	probably benign
R1394:Drc3	UTSW	11	60393719	missense	possibly damaging	0.94
R1483:Drc3	UTSW	11	60388889	missense	probably benign	0.00
R2093:Drc3	UTSW	11	60370484	missense	probably damaging	1.00
R2151:Drc3	UTSW	11	60375157	missense	probably benign	0.15
R4631:Drc3	UTSW	11	60364908	missense	probably benign	0.02
R4796:Drc3	UTSW	11	60363528	missense	probably damaging	1.00
R4841:Drc3	UTSW	11	60370535	missense	probably benign	0.00
R4842:Drc3	UTSW	11	60370535	missense	probably benign	0.00
R5739:Drc3	UTSW	11	60375130	missense	possibly damaging	0.89
R5766:Drc3	UTSW	11	60393821	missense	probably benign	0.18
R6143:Drc3	UTSW	11	60370580	missense	possibly damaging	0.82
R6298:Drc3	UTSW	11	60393770	missense	possibly damaging	0.74
R6558:Drc3	UTSW	11	60364892	missense	probably damaging	1.00
R6611:Drc3	UTSW	11	60364947	missense	probably damaging	0.99
R6938:Drc3	UTSW	11	60394123	critical splice acceptor site	probably null
R7013:Drc3	UTSW	11	60387303	missense	probably benign	0.00
R7108:Drc3	UTSW	11	60370554	missense	probably benign	0.13
R7640:Drc3	UTSW	11	60388904	missense	probably benign
R7713:Drc3	UTSW	11	60370560	missense	probably benign

Posted On

2013-10-07