Mutagenetix > Incidental Mutation

Incidental Mutation 'R0304:Drc7'

37756

Institutional Source

Beutler Lab

Gene Symbol

Drc7

Ensembl Gene

ENSMUSG00000031786

Gene Name

dynein regulatory complex subunit 7

Synonyms

SRG-L, LOC330830, Ccdc135

MMRRC Submission

038515-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0304 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95055103-95078141 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 95059128 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 204 (D204V)

Ref Sequence

ENSEMBL: ENSMUSP00000053972 (fasta)

Gene Model

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

AlphaFold

Q6V3W6

Predicted Effect

probably damaging
Transcript: ENSMUST00000058479
AA Change: D204V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000053972
Gene: ENSMUSG00000031786
AA Change: D204V

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: ENSMUST00000212986

Meta Mutation Damage Score

0.2956

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.3%

Validation Efficiency

98% (95/97)

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430007A20Rik	C	T	4: 144,520,049	T55I	probably benign	Het
Acod1	T	A	14: 103,054,982	I314N	probably damaging	Het
Actl11	T	A	9: 107,929,768	V430E	probably damaging	Het
Adam19	A	C	11: 46,127,392	D427A	possibly damaging	Het
Adarb2	C	T	13: 8,752,570		probably benign	Het
Akap7	A	T	10: 25,271,552	H93Q	probably damaging	Het
Ankrd36	C	A	11: 5,628,981	R82S	possibly damaging	Het
Arhgap21	A	T	2: 20,859,801		probably benign	Het
Atm	T	A	9: 53,516,344	I489F	probably benign	Het
AU019823	T	C	9: 50,607,922	D130G	probably damaging	Het
Carmil1	T	C	13: 24,139,341	S243G	probably damaging	Het
Cdc42bpg	T	C	19: 6,317,248	V939A	probably damaging	Het
Cel	A	C	2: 28,557,771	L377R	probably benign	Het
Clock	A	G	5: 76,226,985	V779A	unknown	Het
Cluap1	G	A	16: 3,929,918		probably benign	Het
Ctif	A	T	18: 75,521,818	H212Q	probably benign	Het
Cyp4a29	T	A	4: 115,252,932		probably benign	Het
Cytip	T	C	2: 58,148,246	N101S	possibly damaging	Het
D130043K22Rik	T	C	13: 24,864,815	M434T	probably benign	Het
Ddx47	A	G	6: 135,017,220	I154V	possibly damaging	Het
Dnah6	C	T	6: 73,159,115	E1014K	probably damaging	Het
Dnajc27	T	G	12: 4,106,793		probably benign	Het
Dsc3	A	G	18: 19,981,241	Y319H	probably damaging	Het
Eml6	T	C	11: 29,777,441	Q1227R	probably benign	Het
Enpp2	A	T	15: 54,877,806	D365E	probably benign	Het
Ercc2	T	C	7: 19,386,708	I199T	possibly damaging	Het
Exd2	G	A	12: 80,491,240		probably benign	Het
F2	A	T	2: 91,633,233	I128N	probably damaging	Het
Fam219b	T	C	9: 57,538,876	L123P	probably damaging	Het
Fasn	A	G	11: 120,819,936	V299A	possibly damaging	Het
Fastkd2	T	C	1: 63,752,400	V689A	possibly damaging	Het
Fbxw13	C	T	9: 109,194,721	R85Q	probably benign	Het
Fer1l6	A	G	15: 58,590,562	Y822C	probably benign	Het
Fhl5	T	C	4: 25,207,241	T176A	probably benign	Het
Gm20530	T	G	17: 36,094,226		noncoding transcript	Het
Gm4787	A	T	12: 81,378,934	I150N	probably damaging	Het
Grip1	G	A	10: 120,075,471	S618N	probably benign	Het
Hdac9	T	C	12: 34,374,111	K454E	probably damaging	Het
Iars2	T	A	1: 185,287,156	I978F	possibly damaging	Het
Icosl	A	G	10: 78,075,322	Y299C	probably benign	Het
Idi1	T	C	13: 8,890,357	Y192H	probably damaging	Het
Iqub	T	G	6: 24,454,291	Q531P	probably damaging	Het
Itih4	T	A	14: 30,890,094		probably null	Het
Izumo4	A	T	10: 80,702,936	H71L	probably damaging	Het
Jcad	A	T	18: 4,673,325	E362D	possibly damaging	Het
Kif21a	G	T	15: 90,976,521		probably null	Het
Kynu	A	T	2: 43,679,881	I392F	probably damaging	Het
Luc7l2	A	G	6: 38,592,776	E223G	probably damaging	Het
Map3k8	A	C	18: 4,339,552	L273R	probably damaging	Het
Max	A	G	12: 76,938,587	L119P	probably benign	Het
Mphosph9	T	C	5: 124,298,829	N484S	probably benign	Het
Mrgprg	A	G	7: 143,765,055	Y107H	probably damaging	Het
Mrps31	A	T	8: 22,421,338	I199F	probably benign	Het
Mtr	C	G	13: 12,222,154		probably null	Het
Muc6	G	A	7: 141,638,400	S2120F	possibly damaging	Het
Nptx2	A	G	5: 144,553,650		probably benign	Het
Nrip1	T	C	16: 76,292,707	Q654R	possibly damaging	Het
Ocm	A	G	5: 144,024,534	F30L	probably damaging	Het
Olfr1216	G	A	2: 89,013,288	R259W	probably damaging	Het
Olfr1223	A	C	2: 89,144,764	Y86*	probably null	Het
Olfr297	C	T	7: 86,526,987	P77S	probably damaging	Het
Olfr600	G	T	7: 103,346,711	D72E	probably damaging	Het
Oosp1	T	C	19: 11,690,969	M17V	probably benign	Het
Pax1	A	T	2: 147,366,147	Y225F	probably benign	Het
Pde4dip	T	A	3: 97,843,712	H62L	probably benign	Het
Pkd1	C	A	17: 24,585,946	Q3190K	probably damaging	Het
Pkn1	A	C	8: 83,683,607		probably benign	Het
Plin5	T	C	17: 56,115,597	D113G	probably damaging	Het
Ppfia1	A	G	7: 144,482,345	V1141A	probably damaging	Het
Ppp4r1	T	A	17: 65,816,006	D334E	probably benign	Het
Ptov1	A	T	7: 44,863,449		probably null	Het
Rab22a	G	A	2: 173,661,459	V22M	probably damaging	Het
Rictor	T	A	15: 6,786,371		probably null	Het
Sart1	G	T	19: 5,380,531		probably benign	Het
Scn11a	G	A	9: 119,819,862	A45V	probably benign	Het
Serpina5	A	G	12: 104,103,200	T224A	possibly damaging	Het
Siglecf	G	T	7: 43,352,401	G212C	probably damaging	Het
Slc38a4	A	T	15: 97,008,454	M378K	probably damaging	Het
Spata22	T	A	11: 73,340,449	C176*	probably null	Het
Tmc3	G	A	7: 83,596,139	E131K	probably damaging	Het
Trappc10	A	T	10: 78,210,760		probably benign	Het
Uvrag	A	G	7: 98,887,973	F672L	probably benign	Het
Vmn1r121	A	G	7: 21,098,407	V36A	possibly damaging	Het
Vmn1r13	A	T	6: 57,210,626	M257L	probably benign	Het
Vmn1r58	C	T	7: 5,410,496	C245Y	probably damaging	Het
Vmn1r86	C	A	7: 13,102,780	M56I	probably benign	Het
Wdr62	T	C	7: 30,242,874	Y1051C	probably benign	Het
Xpnpep3	A	G	15: 81,430,714	D205G	probably damaging	Het
Zdhhc14	T	C	17: 5,725,336		probably benign	Het
Zfp607a	A	T	7: 27,879,212	D569V	possibly damaging	Het
Zfp609	C	T	9: 65,701,188	E1137K	possibly damaging	Het
Zfp871	T	C	17: 32,774,434	Y589C	probably damaging	Het
Zzef1	A	T	11: 72,880,624	D1644V	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TCCTCAAGAGGCTCTGGATGCAAC -3'
(R):5'- TATAAGGACAGCCTGCATGGGGAC -3'

Sequencing Primer
(F):5'- TCTGGATGCAACAGGGGC -3'
(R):5'- GCTTTCTCTAAGGATAGTCAGAGCAG -3'

Posted On

2013-05-23