Mutagenetix > Incidental Mutation

Incidental Mutation 'R6056:Drc7'

484406

Institutional Source

Beutler Lab

Gene Symbol

Drc7

Ensembl Gene

ENSMUSG00000031786

Gene Name

dynein regulatory complex subunit 7

Synonyms

SRG-L, LOC330830, Ccdc135

MMRRC Submission

044223-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6056 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95055103-95078141 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95075051 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 680 (L680P)

Ref Sequence

ENSEMBL: ENSMUSP00000053972 (fasta)

Gene Model

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

AlphaFold

Q6V3W6

Predicted Effect

probably damaging
Transcript: ENSMUST00000058479
AA Change: L680P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000053972
Gene: ENSMUSG00000031786
AA Change: L680P

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

0.5994

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.4%

Validation Efficiency

96% (99/103)

Allele List at MGI

Other mutations in this stock

Total: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	A	T	4: 73,942,878	W162R	probably benign	Het
2610507B11Rik	C	A	11: 78,271,384	L691I	possibly damaging	Het
4930438A08Rik	C	A	11: 58,293,638	P394H	probably damaging	Het
Aggf1	C	T	13: 95,371,615	C81Y	probably benign	Het
Agxt2	A	T	15: 10,378,877	D188V	probably damaging	Het
Angpt2	T	C	8: 18,698,116	K376R	probably benign	Het
Anxa5	A	G	3: 36,450,691	S241P	probably damaging	Het
Aox3	A	T	1: 58,169,859	K850N	probably damaging	Het
Arid5a	T	C	1: 36,319,392	M415T	probably benign	Het
Aspa	T	A	11: 73,308,752	N233I	probably damaging	Het
Atp4b	C	T	8: 13,388,782	R198Q	probably damaging	Het
Atp8b2	A	T	3: 89,946,221	V719E	possibly damaging	Het
Cacna1s	T	G	1: 136,105,836	V1017G	probably damaging	Het
Chrna4	G	T	2: 181,029,442	Q174K	probably damaging	Het
Chrnb1	A	T	11: 69,786,939	V329D	probably damaging	Het
Chst14	T	C	2: 118,927,733	L336P	probably damaging	Het
Clec2e	T	C	6: 129,100,809	D22G	probably benign	Het
Csrnp2	A	C	15: 100,482,382	S343A	probably benign	Het
Dapl1	C	A	2: 59,484,713	A2E	probably damaging	Het
Dlec1	G	T	9: 119,121,923	R519L	probably damaging	Het
Dmgdh	T	A	13: 93,708,743	F415I	possibly damaging	Het
Dmgdh	T	C	13: 93,752,326	V824A	probably damaging	Het
Dnah11	T	G	12: 117,928,456	T3661P	probably benign	Het
Dnah3	A	G	7: 120,030,031	F1434L	probably damaging	Het
Dnajc11	C	A	4: 151,978,126		probably benign	Het
Dot1l	A	G	10: 80,786,095	E527G	probably damaging	Het
Dysf	T	C	6: 84,106,862	Y742H	probably benign	Het
Ece1	A	G	4: 137,961,647	Y665C	probably damaging	Het
Emc1	A	G	4: 139,354,222	K54E	possibly damaging	Het
Enoph1	C	T	5: 100,067,901	T247M	probably damaging	Het
Exoc2	T	C	13: 30,900,829	K383R	probably benign	Het
Fam227b	A	T	2: 126,121,052	H181Q	probably damaging	Het
Fsip2	A	T	2: 82,985,673	M3917L	probably benign	Het
Gtf3a	T	A	5: 146,955,528		probably benign	Het
Hgfac	T	A	5: 35,041,629	C11*	probably null	Het
Hmcn1	C	A	1: 150,663,909	A2944S	probably damaging	Het
Hps5	T	A	7: 46,767,097	Y947F	probably benign	Het
Ighv2-5	A	T	12: 113,685,500	I111K	probably benign	Het
Inpp5e	A	T	2: 26,407,848	L247*	probably null	Het
Kbtbd11	T	C	8: 15,027,577	S59P	probably benign	Het
Kctd19	G	A	8: 105,396,450	H111Y	probably damaging	Het
Kif1a	T	C	1: 93,024,648	D1303G	probably damaging	Het
Kif7	A	G	7: 79,714,094	V22A	possibly damaging	Het
Lrit3	A	T	3: 129,789,355	C328S	probably damaging	Het
Lrrc37a	G	T	11: 103,497,658	Q2314K	unknown	Het
Lurap1	G	T	4: 116,137,402	P211T	possibly damaging	Het
Mbd2	T	A	18: 70,580,803	N5K	possibly damaging	Het
Mbtps1	A	C	8: 119,515,602	L894V	probably benign	Het
Mefv	G	A	16: 3,708,042	S787F	possibly damaging	Het
Miip	T	A	4: 147,862,335	I289F	probably damaging	Het
Mogat2	T	A	7: 99,223,513	I155F	possibly damaging	Het
Mpp3	C	A	11: 102,011,689		probably null	Het
Mrrf	A	G	2: 36,177,221	K220E	probably damaging	Het
Mtmr6	C	T	14: 60,298,170	P485L	probably damaging	Het
Mtor	G	A	4: 148,537,435	R1896K	probably benign	Het
Myh3	C	T	11: 67,087,545	P453S	probably benign	Het
Nebl	A	G	2: 17,450,234	V112A	probably benign	Het
Nmnat2	G	A	1: 153,074,734	W55*	probably null	Het
Nprl3	A	G	11: 32,267,432	S37P	probably damaging	Het
Olfr1246	T	C	2: 89,591,101	N5D	possibly damaging	Het
Oraov1	G	T	7: 144,915,286	V17L	possibly damaging	Het
Pcdhga4	T	G	18: 37,686,330	S311A	probably benign	Het
Pcdhgb6	T	C	18: 37,743,112	V291A	probably benign	Het
Peg10	GAT	GATCAT	6: 4,756,449		probably benign	Het
Peg3	T	C	7: 6,709,571	E884G	probably damaging	Het
Pgpep1	G	A	8: 70,652,451	T53M	probably damaging	Het
Phf12	A	G	11: 78,009,515	T146A	probably benign	Het
Polr3k	C	G	2: 181,864,488	N10K	probably damaging	Het
Prickle4	C	A	17: 47,690,210	G144C	probably damaging	Het
Ptpn6	T	C	6: 124,732,435	Y25C	probably damaging	Het
Rad1	A	G	15: 10,488,074	I95V	probably damaging	Het
Rad23b	A	G	4: 55,382,540	T248A	probably benign	Het
Rapgef3	T	C	15: 97,758,861	D299G	probably damaging	Het
Rcc2	T	G	4: 140,717,024	V342G	possibly damaging	Het
Rgs3	G	T	4: 62,625,906	R136L	probably damaging	Het
Scube2	A	T	7: 109,833,013	C399*	probably null	Het
Serpinb3d	T	C	1: 107,079,722	Y178C	probably damaging	Het
Slc1a7	A	G	4: 108,012,261	T508A	probably benign	Het
Slc29a4	C	T	5: 142,720,077	R439C	probably damaging	Het
Sntg2	A	G	12: 30,312,561	I62T	probably benign	Het
Sowaha	G	A	11: 53,479,087	P274L	probably damaging	Het
Sptan1	A	G	2: 29,996,782	N869S	probably benign	Het
Stx18	C	A	5: 38,106,564	A64D	probably damaging	Het
Stxbp5	A	G	10: 9,770,686	V94A	probably benign	Het
Sult1a1	T	A	7: 126,676,452		probably null	Het
Susd1	G	T	4: 59,379,687	H313Q	possibly damaging	Het
Tdrd9	A	T	12: 111,985,041	K88N	probably damaging	Het
Tlr5	A	C	1: 182,974,038	R302S	possibly damaging	Het
Tnr	C	T	1: 159,886,909	T786I	probably damaging	Het
Tprgl	A	G	4: 154,160,095	S148P	probably damaging	Het
Trpc4ap	T	A	2: 155,671,074	N127I	probably damaging	Het
Tulp2	T	A	7: 45,490,373		probably null	Het
Uggt2	C	T	14: 119,035,969		probably null	Het
Ulk4	T	A	9: 121,272,955	Y19F	probably damaging	Het
Upf1	T	C	8: 70,333,037	Y1053C	probably damaging	Het
Vars2	A	T	17: 35,665,788	H223Q	probably benign	Het
Vmn2r106	T	A	17: 20,267,544		probably null	Het
Ythdc2	T	A	18: 44,840,210	F305I	probably damaging	Het
Zfp281	T	C	1: 136,625,440	F52S	possibly damaging	Het
Zfp292	A	T	4: 34,809,784	C1087S	probably damaging	Het
Zfp335	A	T	2: 164,895,098		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
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
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
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'- TCTAGGATGGTCTCGCCTTC -3'
(R):5'- CGGAGCTTCAAAATCTCCAGC -3'

Posted On

2017-07-14