Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01793:Drc7'

155272

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Drc7

Ensembl Gene

ENSMUSG00000031786

Gene Name

dynein regulatory complex subunit 7

Synonyms

SRG-L, LOC330830, Ccdc135

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01793

Quality Score

Status

Chromosome

Chromosomal Location

95055103-95078141 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95071277 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 441 (I441T)

Ref Sequence

ENSEMBL: ENSMUSP00000053972 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058479]

AlphaFold

Q6V3W6

Predicted Effect

probably benign
Transcript: ENSMUST00000058479
AA Change: I441T

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000053972
Gene: ENSMUSG00000031786
AA Change: I441T

Domain	Start	End	E-Value	Type
coiled coil region	1	33	N/A	INTRINSIC
low complexity region	229	246	N/A	INTRINSIC
coiled coil region	258	295	N/A	INTRINSIC
low complexity region	388	411	N/A	INTRINSIC
low complexity region	544	555	N/A	INTRINSIC
low complexity region	695	710	N/A	INTRINSIC
low complexity region	798	809	N/A	INTRINSIC
low complexity region	848	864	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212980

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox2	A	G	1: 58,336,624	I871V	possibly damaging	Het
Bbs7	A	T	3: 36,605,682		probably null	Het
D930020B18Rik	T	C	10: 121,671,831	I158T	probably damaging	Het
Etl4	T	C	2: 20,743,898	I147T	possibly damaging	Het
Fat1	G	A	8: 44,989,112	M1150I	probably benign	Het
Fbn1	T	C	2: 125,387,293	S523G	possibly damaging	Het
Gramd1a	C	T	7: 31,134,413		probably null	Het
Hc	A	G	2: 35,028,190	Y694H	probably damaging	Het
Kif6	T	A	17: 49,624,493	I73N	probably damaging	Het
Large1	A	G	8: 72,859,181		probably benign	Het
Luzp2	G	T	7: 55,172,249	L171F	probably damaging	Het
Naaladl1	C	A	19: 6,109,631		probably null	Het
Otop1	G	A	5: 38,299,871	A325T	possibly damaging	Het
Parp8	T	A	13: 116,910,879	Y219F	probably damaging	Het
Pkp3	A	G	7: 141,088,904	I660V	probably benign	Het
Plin3	T	C	17: 56,281,540	N238S	probably benign	Het
Ppef2	A	T	5: 92,246,756	D186E	probably damaging	Het
Rab40c	G	A	17: 25,884,622	L156F	probably damaging	Het
Scnn1a	T	C	6: 125,343,703	V547A	probably benign	Het
Spag6l	A	G	16: 16,781,857	V247A	probably damaging	Het
Syne1	T	C	10: 5,352,191	E853G	possibly damaging	Het
Synj2	T	A	17: 6,038,046	H1457Q	probably benign	Het
Synj2	C	T	17: 6,027,225	R460*	probably null	Het
Syt1	T	C	10: 108,583,975	D275G	possibly damaging	Het
Tmx1	A	G	12: 70,458,787	D108G	probably benign	Het
Vmn1r180	T	C	7: 23,953,243	V277A	probably benign	Het
Vmn1r83	C	T	7: 12,321,577	M184I	probably benign	Het
Zfp750	G	T	11: 121,513,984	P22T	probably damaging	Het
Zscan2	A	G	7: 80,874,944	I138V	probably null	Het

Other mutations in Drc7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Drc7	APN	8	95056001	splice site	probably benign
IGL00922:Drc7	APN	8	95077978	missense	probably benign	0.00
IGL01610:Drc7	APN	8	95077802	missense	probably damaging	1.00
IGL01642:Drc7	APN	8	95059139	missense	probably benign	0.34
IGL01936:Drc7	APN	8	95074132	missense	possibly damaging	0.89
IGL01953:Drc7	APN	8	95059125	missense	probably damaging	1.00
IGL01998:Drc7	APN	8	95059193	missense	probably damaging	1.00
IGL02237:Drc7	APN	8	95072879	missense	probably damaging	1.00
IGL02259:Drc7	APN	8	95056105	missense	probably benign
IGL02285:Drc7	APN	8	95071233	splice site	probably benign
IGL02940:Drc7	APN	8	95074297	missense	probably damaging	0.99
IGL03032:Drc7	APN	8	95076247	splice site	probably benign
IGL03181:Drc7	APN	8	95068127	missense	probably benign	0.00
R0018:Drc7	UTSW	8	95074234	missense	probably damaging	0.99
R0018:Drc7	UTSW	8	95074234	missense	probably damaging	0.99
R0281:Drc7	UTSW	8	95071253	missense	possibly damaging	0.61
R0304:Drc7	UTSW	8	95059128	missense	probably damaging	1.00
R0362:Drc7	UTSW	8	95072855	missense	probably benign	0.00
R1127:Drc7	UTSW	8	95072788	missense	probably damaging	0.98
R1635:Drc7	UTSW	8	95074332	critical splice donor site	probably null
R1921:Drc7	UTSW	8	95056016	missense	unknown
R1931:Drc7	UTSW	8	95071253	missense	possibly damaging	0.61
R2256:Drc7	UTSW	8	95075009	missense	probably benign	0.16
R3851:Drc7	UTSW	8	95061836	nonsense	probably null
R4797:Drc7	UTSW	8	95074297	missense	probably damaging	0.96
R4827:Drc7	UTSW	8	95071639	missense	probably damaging	0.98
R4966:Drc7	UTSW	8	95071596	missense	probably benign	0.45
R5194:Drc7	UTSW	8	95061717	missense	probably benign	0.00
R5721:Drc7	UTSW	8	95074333	critical splice donor site	probably null
R5911:Drc7	UTSW	8	95074126	missense	probably damaging	1.00
R5993:Drc7	UTSW	8	95074192	missense	probably benign
R6056:Drc7	UTSW	8	95075051	missense	probably damaging	1.00
R6534:Drc7	UTSW	8	95071282	missense	probably damaging	1.00
R6576:Drc7	UTSW	8	95075258	missense	probably damaging	0.98
R6861:Drc7	UTSW	8	95062397	critical splice donor site	probably null
R7104:Drc7	UTSW	8	95059083	missense	probably damaging	0.99
R7157:Drc7	UTSW	8	95074150	missense	probably damaging	0.99
R7205:Drc7	UTSW	8	95077921	missense	probably damaging	1.00
R7283:Drc7	UTSW	8	95071579	missense	probably damaging	0.99
R7351:Drc7	UTSW	8	95058507	missense	probably benign	0.25
R7567:Drc7	UTSW	8	95068056	missense	probably benign	0.00
R8211:Drc7	UTSW	8	95056079	missense	unknown
R8281:Drc7	UTSW	8	95062177	missense	possibly damaging	0.81
R8401:Drc7	UTSW	8	95074135	missense	probably benign
R8821:Drc7	UTSW	8	95062217	missense	probably damaging	1.00
R8831:Drc7	UTSW	8	95062217	missense	probably damaging	1.00
R9044:Drc7	UTSW	8	95070449	missense	probably damaging	0.98
R9326:Drc7	UTSW	8	95075258	missense	probably benign	0.02
R9565:Drc7	UTSW	8	95075238	missense	probably damaging	0.98
R9581:Drc7	UTSW	8	95059154	missense	probably damaging	0.98
Y5404:Drc7	UTSW	8	95068150	small deletion	probably benign

Posted On

2014-02-04