Mutagenetix > Incidental Mutation

Incidental Mutation 'R7104:Drc7'

551057

Institutional Source

Beutler Lab

Gene Symbol

Drc7

Ensembl Gene

ENSMUSG00000031786

Gene Name

dynein regulatory complex subunit 7

Synonyms

SRG-L, LOC330830, Ccdc135

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7104 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95055103-95078141 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95059083 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 189 (D189G)

Ref Sequence

ENSEMBL: ENSMUSP00000053972 (fasta)

Gene Model

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

AlphaFold

Q6V3W6

Predicted Effect

probably damaging
Transcript: ENSMUST00000058479
AA Change: D189G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000053972
Gene: ENSMUSG00000031786
AA Change: D189G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,194,444	L897P	possibly damaging	Het
Agbl2	A	G	2: 90,797,547	E232G	probably damaging	Het
Atf7	A	G	15: 102,534,235	S480P	probably benign	Het
Cdk14	A	G	5: 5,195,325	I166T	possibly damaging	Het
Cdk5rap2	G	T	4: 70,349,156	F358L	probably benign	Het
Cytip	A	G	2: 58,159,974	S28P	probably benign	Het
Dennd5b	C	T	6: 149,044,604	R503Q	probably damaging	Het
Dnajc10	T	A	2: 80,340,815	C480S	probably damaging	Het
Engase	G	A	11: 118,481,295	V138M	probably damaging	Het
Esyt3	C	A	9: 99,338,787	R121L	probably damaging	Het
Frem1	T	G	4: 82,940,681	I1516L	probably benign	Het
Gatad2b	T	A	3: 90,351,417	I249N	probably damaging	Het
Grk6	T	C	13: 55,454,406	S383P	probably benign	Het
Hectd1	C	T	12: 51,827,351		probably null	Het
Hipk2	A	G	6: 38,818,644	L230P	probably damaging	Het
Hivep1	A	T	13: 42,157,338	Q1018L	probably benign	Het
Itgad	T	C	7: 128,198,378	F927S	probably benign	Het
Itgb3bp	A	G	4: 99,814,098	V3A	probably damaging	Het
Kcnh7	G	T	2: 62,787,687	A486D	possibly damaging	Het
Krt2	T	C	15: 101,815,087	T318A	probably benign	Het
Ndrg1	A	G	15: 66,946,528	F77S	probably damaging	Het
Nlrp4c	T	A	7: 6,065,709	L203*	probably null	Het
Nos1	T	A	5: 117,947,431	C1275S	probably damaging	Het
Olfr1052	T	A	2: 86,298,220	S135T	probably benign	Het
Olfr1167	T	C	2: 88,149,372	T216A	possibly damaging	Het
Olfr1241	A	G	2: 89,483,114	V7A	possibly damaging	Het
Olfr1431	T	C	19: 12,209,878	I104T	possibly damaging	Het
Olfr294	T	C	7: 86,615,692	S318G	probably null	Het
Olfr875	A	T	9: 37,773,141	N161Y	possibly damaging	Het
Pip4k2b	T	C	11: 97,732,716	M67V	possibly damaging	Het
Polq	C	A	16: 37,089,353	Y2366*	probably null	Het
Prg3	T	C	2: 84,988,753	S8P	probably benign	Het
Prl7c1	A	T	13: 27,778,969	L17*	probably null	Het
Prl8a8	A	T	13: 27,511,496	S51R	probably damaging	Het
Pttg1	G	C	11: 43,421,149	P160A	probably benign	Het
Rbfox1	C	A	16: 7,353,003	R276S	possibly damaging	Het
Rnase2a	T	G	14: 51,255,531	M126L	probably benign	Het
Secisbp2	A	T	13: 51,656,907	K202*	probably null	Het
Sema6c	A	G	3: 95,168,845	H236R	possibly damaging	Het
Sept12	A	G	16: 4,991,993	L181P	probably damaging	Het
Shc3	A	T	13: 51,431,205	V458D	possibly damaging	Het
Tecta	A	G	9: 42,366,943	Y1090H	probably benign	Het
Thsd7a	A	T	6: 12,379,430	N998K		Het
Tmem131l	A	T	3: 83,919,459	S1184T	possibly damaging	Het
Tnfsf15	T	C	4: 63,729,650	D251G	probably damaging	Het
Ttyh3	T	C	5: 140,629,785	E348G	probably benign	Het
Unc5c	T	C	3: 141,733,904	L186P	probably damaging	Het
Vmn2r37	A	T	7: 9,216,046	N446K	probably damaging	Het
Vmn2r63	T	C	7: 42,928,535	D193G	possibly damaging	Het
Vmn2r85	A	T	10: 130,426,507	M121K	probably benign	Het
Vmn2r88	A	G	14: 51,413,796	D189G		Het
Vwc2l	C	A	1: 70,729,093	C105*	probably null	Het
Wdr72	T	A	9: 74,148,315	D275E	probably damaging	Het
Zfhx4	A	T	3: 5,402,489	D2594V	probably damaging	Het
Zfp174	C	T	16: 3,854,405	H273Y	probably benign	Het
Zwilch	A	G	9: 64,161,376	S203P	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
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
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'- TGTTTGTGGCACATCCTCAAGAG -3'
(R):5'- ATAGTCAGAGCAGTGCCCTG -3'

Sequencing Primer
(F):5'- CTCAAGAGGCTCTGGATGCAAC -3'
(R):5'- GCCCTGATCTCCTAAGATGGATG -3'

Posted On

2019-05-15