Mutagenetix > Incidental Mutation

Incidental Mutation 'R4966:Drc7'

384011

Institutional Source

Beutler Lab

Gene Symbol

Drc7

Ensembl Gene

ENSMUSG00000031786

Gene Name

dynein regulatory complex subunit 7

Synonyms

SRG-L, LOC330830, Ccdc135

MMRRC Submission

042562-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4966 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95055103-95078141 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 95071596 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 490 (E490K)

Ref Sequence

ENSEMBL: ENSMUSP00000053972 (fasta)

Gene Model

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

AlphaFold

Q6V3W6

Predicted Effect

probably benign
Transcript: ENSMUST00000058479
AA Change: E490K

PolyPhen 2 Score 0.448 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000053972
Gene: ENSMUSG00000031786
AA Change: E490K

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

Meta Mutation Damage Score

0.1221

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 90.6%

Validation Efficiency

96% (94/98)

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	C	13: 119,474,221		probably benign	Het
9030619P08Rik	T	A	15: 75,431,418		noncoding transcript	Het
Abcb5	T	A	12: 118,886,891		probably benign	Het
Acox3	A	G	5: 35,589,736	N166D	probably damaging	Het
Actn1	T	C	12: 80,173,130	I656V	probably benign	Het
Arhgef15	A	G	11: 68,947,317	V659A	probably benign	Het
AW551984	T	C	9: 39,597,176	E348G	possibly damaging	Het
Bbs2	A	T	8: 94,080,807	V453E	probably damaging	Het
Caskin1	A	T	17: 24,507,161	D1414V	probably damaging	Het
Ccdc57	A	T	11: 120,861,152	S868T	probably benign	Het
Cdc34b	A	T	11: 94,742,261	I96F	probably damaging	Het
Ctnnd1	A	G	2: 84,622,073	F69L	possibly damaging	Het
Cyld	A	G	8: 88,742,301	I567V	possibly damaging	Het
Dact3	G	C	7: 16,886,088	V503L	unknown	Het
Dlg1	C	T	16: 31,754,808	T9I	probably benign	Het
Dnase1	T	C	16: 4,037,907		probably benign	Het
Drd4	T	C	7: 141,293,777	M114T	probably damaging	Het
Exoc3l4	A	G	12: 111,428,721	H591R	probably benign	Het
Fgfr1	C	A	8: 25,572,445	Y665*	probably null	Het
G2e3	A	G	12: 51,371,630	I603V	probably benign	Het
Glp2r	G	T	11: 67,757,593	Y94*	probably null	Het
Gnat1	A	T	9: 107,677,234	M115K	probably benign	Het
Gpr45	A	G	1: 43,033,120	T308A	probably benign	Het
Grm1	T	A	10: 10,719,665	K740*	probably null	Het
Gtsf2	T	C	15: 103,444,328	E88G	possibly damaging	Het
Hsh2d	C	T	8: 72,193,528	A23V	probably benign	Het
Ino80c	T	C	18: 24,106,645	D153G	probably damaging	Het
Ints11	T	C	4: 155,886,928	F278L	probably damaging	Het
Ints6	A	G	14: 62,702,462	L593P	probably damaging	Het
Map4k1	A	T	7: 28,983,002	H16L	probably benign	Het
Mipep	G	T	14: 60,784,782	R32L	probably damaging	Het
Mon1a	A	G	9: 107,902,651	E473G	probably damaging	Het
Myf5	A	T	10: 107,485,872	C20*	probably null	Het
Myh11	T	C	16: 14,205,954	E1512G	probably damaging	Het
Myo5c	T	C	9: 75,269,596	S608P	probably benign	Het
Myo9a	A	G	9: 59,871,734	D1591G	probably benign	Het
Myof	T	A	19: 37,935,852	I1306F	probably damaging	Het
Nlgn1	C	T	3: 25,920,237	G165D	possibly damaging	Het
Noc2l	C	G	4: 156,245,911	D513E	probably damaging	Het
Nup205	G	A	6: 35,243,849	R1862H	probably benign	Het
Nup210l	A	G	3: 90,106,901	H65R	probably benign	Het
Olfr1388	A	G	11: 49,444,118	D89G	possibly damaging	Het
Olfr827	A	T	10: 130,210,437	M231K	probably benign	Het
Pcmtd1	C	A	1: 7,161,009	Y176*	probably null	Het
Pde6h	C	T	6: 136,961,203	T58I	possibly damaging	Het
Pkd1	T	C	17: 24,586,068		probably null	Het
Polr1e	G	A	4: 45,029,429	A297T	probably damaging	Het
Rbm34	T	C	8: 126,951,337	D269G	possibly damaging	Het
Rdx	T	C	9: 52,075,009	V372A	probably benign	Het
Reep6	T	A	10: 80,333,799	F107Y	probably benign	Het
Rere	G	T	4: 150,613,816		probably benign	Het
Rmdn2	G	T	17: 79,666,875	A266S	probably damaging	Het
Rnf32	G	A	5: 29,198,578	R7H	probably benign	Het
Rnpepl1	A	T	1: 92,916,761	N325I	probably damaging	Het
Rps6ka5	T	A	12: 100,553,066	M763L	probably benign	Het
Ryr2	T	C	13: 11,714,611	E2375G	possibly damaging	Het
Ryr2	T	C	13: 11,833,992	T361A	probably benign	Het
Serpina3j	T	A	12: 104,319,784	C399*	probably null	Het
Serpinb9	T	A	13: 33,008,864	W135R	probably damaging	Het
Sim2	T	C	16: 94,123,421	V475A	probably benign	Het
Slc24a5	G	A	2: 125,068,268	V30I	probably benign	Het
Snrnp25	A	G	11: 32,207,595	K58E	probably damaging	Het
Stx1b	T	C	7: 127,807,921	I55V	probably damaging	Het
Tacc2	T	C	7: 130,728,777	S264P	probably damaging	Het
Tbc1d4	A	T	14: 101,458,174	Y943N	probably damaging	Het
Tlr5	T	C	1: 182,973,473	I114T	probably benign	Het
Tm2d3	A	G	7: 65,697,721	N101S	possibly damaging	Het
Tmem201	G	T	4: 149,718,687	Q575K	probably benign	Het
Tmem241	A	G	18: 12,104,119	S87P	probably damaging	Het
Trak2	G	A	1: 58,919,321	T267I	probably damaging	Het
Trmt2a	T	A	16: 18,249,554	C30*	probably null	Het
Ttbk2	A	T	2: 120,773,277	F258L	possibly damaging	Het
Ttk	T	A	9: 83,865,148	I680N	probably benign	Het
Ttn	T	C	2: 76,955,036	D665G	probably damaging	Het
Tulp4	G	A	17: 6,198,813	E36K	probably damaging	Het
Unc93b1	T	C	19: 3,942,023		probably null	Het
Uroc1	T	C	6: 90,345,394	L300P	probably damaging	Het
Vmn2r67	A	T	7: 85,136,385	V804E	probably damaging	Het
Wdr81	T	A	11: 75,445,949	Q1538L	probably benign	Het
Zfp457	T	A	13: 67,293,278	H315L	probably damaging	Het
Zfp518a	T	A	19: 40,915,851	V1408D	possibly damaging	Het
Zfp52	T	G	17: 21,560,403	L171R	probably benign	Het
Zfp712	C	T	13: 67,040,612	C617Y	probably damaging	Het
Zfp770	T	C	2: 114,197,387	N67S	probably benign	Het
Zmat4	T	C	8: 23,902,069	S83P	probably damaging	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
IGL01793:Drc7	APN	8	95071277	missense	probably benign	0.25
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
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

Predicted Primers

PCR Primer
(F):5'- CTACGAGGACCAACAGTGTAAG -3'
(R):5'- ATGCCTAGGGTCGGTTCTTC -3'

Sequencing Primer
(F):5'- CAAGGAGATGCCGTGCTTG -3'
(R):5'- CCCATCAGTGTCATCGTATGTAAACG -3'

Posted On

2016-04-27