Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01610:Drc7'

91997

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 #

IGL01610

Quality Score

Status

Chromosome

Chromosomal Location

95055103-95078141 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 95077802 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 843 (R843W)

Ref Sequence

ENSEMBL: ENSMUSP00000053972 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034239] [ENSMUST00000058479] [ENSMUST00000212968]

AlphaFold

Q6V3W6

Predicted Effect

probably benign
Transcript: ENSMUST00000034239

SMART Domains

Protein: ENSMUSP00000034239
Gene: ENSMUSG00000031787

Domain	Start	End	E-Value	Type
WD40	9	49	2.61e-3	SMART
WD40	52	91	2.45e-8	SMART
WD40	94	133	3.58e-10	SMART
WD40	136	175	7.49e-13	SMART
WD40	178	217	5.14e-11	SMART
WD40	220	258	1.14e-3	SMART
low complexity region	354	373	N/A	INTRINSIC
low complexity region	396	412	N/A	INTRINSIC
Pfam:Katanin_con80	496	654	8.2e-59	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000058479
AA Change: R843W

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

SMART Domains

Protein: ENSMUSP00000053972
Gene: ENSMUSG00000031786
AA Change: R843W

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

probably benign
Transcript: ENSMUST00000212968

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212980

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018A14Rik	T	C	18: 46,199,566		probably benign	Het
2810474O19Rik	C	T	6: 149,328,951	T1165M	probably benign	Het
4921524J17Rik	T	C	8: 85,412,242	I73V	probably benign	Het
4930562C15Rik	T	A	16: 4,851,565		probably benign	Het
Abca15	T	A	7: 120,340,644	V323D	probably damaging	Het
Acot10	T	C	15: 20,665,695	Y320C	probably damaging	Het
Acp6	T	A	3: 97,175,720	V349D	possibly damaging	Het
Adcy9	G	T	16: 4,418,114	Q478K	probably damaging	Het
Akap13	A	T	7: 75,747,605	I2528F	probably damaging	Het
Akap13	A	G	7: 75,720,180	I1843V	possibly damaging	Het
Akap9	G	A	5: 4,032,839	A1988T	possibly damaging	Het
Alox5	C	T	6: 116,413,547	V490M	probably damaging	Het
Aspm	C	T	1: 139,489,670	R1537*	probably null	Het
Bmf	G	A	2: 118,549,158	P46S	probably benign	Het
Brf1	T	A	12: 112,988,083	H92L	probably benign	Het
Chchd1	A	G	14: 20,703,177	N35S	probably benign	Het
Cntnap3	C	T	13: 64,757,301	G889S	probably damaging	Het
Col6a4	T	C	9: 106,047,707		probably benign	Het
Crispld1	A	G	1: 17,746,725		probably null	Het
Ddx27	T	C	2: 167,022,044		probably benign	Het
Dennd1b	A	G	1: 139,169,766		probably benign	Het
Dennd4a	T	C	9: 64,906,884	V1461A	probably damaging	Het
Dync2li1	A	G	17: 84,628,314	E13G	probably damaging	Het
Egf	A	G	3: 129,706,260		probably benign	Het
Hpse2	T	C	19: 43,384,789	S134G	probably benign	Het
Hydin	A	G	8: 110,557,713	T3206A	probably benign	Het
Ier5l	T	A	2: 30,473,954	S20C	probably damaging	Het
Il1r1	A	G	1: 40,302,400	E324G	probably benign	Het
Kdm4b	C	T	17: 56,353,522		probably benign	Het
Lztfl1	T	A	9: 123,700,091	E298D	probably benign	Het
Myo1b	A	T	1: 51,776,246	M647K	probably damaging	Het
Olfr1106	G	T	2: 87,048,288		probably benign	Het
Olfr539	C	T	7: 140,667,671	A128V	probably damaging	Het
Olfr619	A	T	7: 103,604,067	T138S	probably benign	Het
Parvb	A	T	15: 84,303,465	K258M	probably damaging	Het
Pcdhb11	T	G	18: 37,423,359	S581A	probably benign	Het
Pcnx2	C	A	8: 125,839,633	A1024S	possibly damaging	Het
Pde4a	T	C	9: 21,211,350		probably benign	Het
Pgr	A	T	9: 8,903,691	H571L	possibly damaging	Het
Phf20	G	T	2: 156,302,889	E806*	probably null	Het
Pilra	T	A	5: 137,835,541	I85F	probably damaging	Het
Pla2g2f	C	T	4: 138,753,311	V125M	probably damaging	Het
Rb1cc1	A	G	1: 6,248,481	N708S	probably benign	Het
Rnase4	A	T	14: 51,104,921	Y34F	probably damaging	Het
Ropn1	A	T	16: 34,666,771	I26F	probably damaging	Het
Rpl9-ps6	T	A	19: 32,466,299	T85S	probably benign	Het
Scaf8	C	T	17: 3,195,849	P738S	probably damaging	Het
Sec31a	A	T	5: 100,402,358		probably benign	Het
Sel1l	C	T	12: 91,817,290	V459I	probably damaging	Het
Senp7	A	T	16: 56,175,823	D755V	possibly damaging	Het
Serpinb9d	A	T	13: 33,198,002	K151N	probably benign	Het
Slc8a3	A	G	12: 81,315,802	F81S	probably damaging	Het
Spire2	T	A	8: 123,356,763	L162Q	probably damaging	Het
Syt17	A	G	7: 118,433,993	I264T	possibly damaging	Het
Tbl3	A	T	17: 24,704,044	V379D	probably damaging	Het
Tenm3	A	T	8: 48,254,477	L1762Q	probably damaging	Het
Trerf1	A	T	17: 47,319,575		noncoding transcript	Het
Ttc13	T	C	8: 124,676,344	D552G	probably damaging	Het
Tuba3a	G	T	6: 125,278,566	T382K	possibly damaging	Het
Vmn1r210	A	T	13: 22,827,807	V103E	probably damaging	Het
Vmn1r80	A	G	7: 12,193,380	H139R	possibly damaging	Het
Xpo7	A	T	14: 70,703,230	F141Y	probably damaging	Het
Zfp143	T	A	7: 110,074,126	Y143*	probably null	Het
Zfp207	T	A	11: 80,385,970	C26S	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
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
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

2013-12-09