Mutagenetix > Incidental Mutation

Incidental Mutation 'R9581:Drc7'

722541

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 #

R9581 (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 95059154 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 213 (S213P)

Ref Sequence

ENSEMBL: ENSMUSP00000053972 (fasta)

Gene Model

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

AlphaFold

Q6V3W6

Predicted Effect

probably damaging
Transcript: ENSMUST00000058479
AA Change: S213P

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000053972
Gene: ENSMUSG00000031786
AA Change: S213P

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: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	G	5: 8,740,428	I1097R	possibly damaging	Het
Abcd4	A	G	12: 84,603,988	S533P	probably damaging	Het
Adat1	C	T	8: 111,979,314	V387I	probably benign	Het
Aff3	T	A	1: 38,210,185	T614S	probably benign	Het
Aldh1a1	T	A	19: 20,620,053	C133S	probably benign	Het
Ankrd12	A	G	17: 65,983,420	S1673P	probably damaging	Het
Aox2	T	A	1: 58,330,896		probably null	Het
Arsi	A	G	18: 60,917,088	T348A	probably damaging	Het
Baz2b	T	C	2: 59,968,956	R275G	probably benign	Het
Cdh2	T	A	18: 16,670,055		probably benign	Het
Cela1	C	T	15: 100,675,380	A243T	probably benign	Het
Cep192	G	T	18: 67,847,394	V1409F	probably damaging	Het
Chia1	T	C	3: 106,128,563	Y240H	possibly damaging	Het
Dact1	A	T	12: 71,318,845	K763M	probably damaging	Het
Dip2b	C	A	15: 100,181,374	N822K	probably damaging	Het
Dnah12	C	T	14: 26,770,028	T1140I	probably damaging	Het
Ell2	A	G	13: 75,764,029	D478G	probably benign	Het
Evpl	G	A	11: 116,229,834	T483M	probably benign	Het
Farp1	A	T	14: 121,243,429	E414V	probably benign	Het
Fbxl17	A	G	17: 63,499,530	V163A	probably benign	Het
Foxn3	C	T	12: 99,196,776	E289K	probably damaging	Het
Fscb	T	A	12: 64,474,348	I115F	probably benign	Het
Gm14496	A	T	2: 182,000,254	T573S	probably benign	Het
Golga1	G	T	2: 39,019,561	D677E	probably damaging	Het
Herc6	A	T	6: 57,658,116	K772N	probably damaging	Het
Ikbkb	T	C	8: 22,665,559	D639G	probably damaging	Het
Lrrc61	G	A	6: 48,568,719	V159I	possibly damaging	Het
Ltbp2	G	A	12: 84,791,090	P1192L	probably benign	Het
Mib1	A	G	18: 10,775,701	D551G	possibly damaging	Het
Muc5ac	G	T	7: 141,810,062	R2370L	unknown	Het
Mybpc3	A	G	2: 91,119,271	D53G	probably benign	Het
Myo9b	C	T	8: 71,359,899	P2105S	probably benign	Het
Naip5	G	T	13: 100,214,686	H1271Q	probably benign	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nmt2	T	C	2: 3,316,175	V340A	possibly damaging	Het
Nos1	A	G	5: 117,905,394	E578G	probably damaging	Het
Nox3	G	A	17: 3,650,053	R462W	possibly damaging	Het
Olfr243	A	G	7: 103,716,581		probably benign	Het
Olfr63	C	A	17: 33,269,021	A99D	probably damaging	Het
Pcdhgc4	A	G	18: 37,817,136	Q535R	probably benign	Het
Pcsk5	T	C	19: 17,454,832	D1473G	probably benign	Het
Pdilt	A	T	7: 119,500,410	F212I	probably damaging	Het
Ptk2b	A	T	14: 66,213,340	V59D	probably damaging	Het
Ptprf	T	C	4: 118,235,060	D571G	probably benign	Het
Ptprq	A	T	10: 107,711,910	V209E	possibly damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,579,918		probably benign	Het
Schip1	TCTGGCC	TC	3: 68,617,727		probably null	Het
Sec16a	C	T	2: 26,438,635	V142I		Het
Slamf6	A	G	1: 171,934,330	Y106C		Het
Strc	A	G	2: 121,377,447	V481A	probably damaging	Het
Sulf1	A	T	1: 12,805,254	I163F	possibly damaging	Het
Tjp1	A	G	7: 65,299,724	S1637P	probably damaging	Het
Tlr9	A	G	9: 106,224,311	E267G	probably damaging	Het
Tmem117	T	A	15: 95,094,387	F309L	probably benign	Het
Tmtc4	T	C	14: 122,950,586	N196S	probably benign	Het
Trim16	T	A	11: 62,836,731	I293K	probably damaging	Het
Trim7	T	C	11: 48,848,060	V95A	probably damaging	Het
Ttll6	A	T	11: 96,158,746	K763N	probably benign	Het
Tut1	T	C	19: 8,964,617	S483P	probably benign	Het
Zfp101	A	T	17: 33,386,756	L26*	probably null	Het
Zfp106	C	T	2: 120,535,326	R155K		Het
Zfp518a	T	A	19: 40,911,712	D28E	probably damaging	Het
Zfp90	T	A	8: 106,425,082	S476T	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
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
Y5404:Drc7	UTSW	8	95068150	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- AGAGGCTCTGGATGCAACAG -3'
(R):5'- CCAGTTCTTGCTTTCTCTAAGGATAG -3'

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

Posted On

2022-08-09