Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02940:Drc7'

364469

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Drc7

Ensembl Gene

ENSMUSG00000031786

Gene Name

dynein regulatory complex subunit 7

Synonyms

Ccdc135, SRG-L, LOC330830

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02940

Quality Score

Status

Chromosome

Chromosomal Location

95781731-95804769 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 95800925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 649 (I649N)

Ref Sequence

ENSEMBL: ENSMUSP00000053972 (fasta)

Gene Model

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

AlphaFold

Q6V3W6

Predicted Effect

probably damaging
Transcript: ENSMUST00000058479
AA Change: I649N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000053972
Gene: ENSMUSG00000031786
AA Change: I649N

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg3	T	A	8: 95,760,084 (GRCm39)	V101D	possibly damaging	Het
Brca1	T	C	11: 101,380,738 (GRCm39)	D1765G	probably benign	Het
Cadps2	T	C	6: 23,496,808 (GRCm39)	K450R	probably benign	Het
Cc2d2a	A	T	5: 43,885,636 (GRCm39)		probably null	Het
Dbh	A	G	2: 27,058,321 (GRCm39)	Y163C	probably damaging	Het
Dst	G	A	1: 34,328,668 (GRCm39)	A7097T	probably benign	Het
Fbxo46	A	G	7: 18,869,537 (GRCm39)	H52R	probably benign	Het
Gm9944	T	C	4: 144,179,709 (GRCm39)		probably benign	Het
Lsm14a	G	T	7: 34,070,596 (GRCm39)	S100*	probably null	Het
Mrc2	C	T	11: 105,231,997 (GRCm39)	R850C	probably damaging	Het
Musk	A	G	4: 58,373,364 (GRCm39)	D763G	probably damaging	Het
Ncan	C	T	8: 70,562,735 (GRCm39)	V508I	probably benign	Het
Or4k35	A	T	2: 111,100,073 (GRCm39)	L213Q	probably damaging	Het
Pgls	C	T	8: 72,046,741 (GRCm39)	S18L	probably damaging	Het
Phf20l1	A	G	15: 66,467,000 (GRCm39)	T98A	probably damaging	Het
Ppp1r36dn	A	C	12: 76,497,944 (GRCm39)		noncoding transcript	Het
Prdm13	T	A	4: 21,683,421 (GRCm39)	K180*	probably null	Het
Rai1	T	C	11: 60,077,844 (GRCm39)	V636A	probably benign	Het
Setd5	T	C	6: 113,091,899 (GRCm39)	F240S	possibly damaging	Het
Slco1a5	A	G	6: 142,187,731 (GRCm39)	L536P	probably damaging	Het
Stk39	C	T	2: 68,051,243 (GRCm39)		probably null	Het
Tenm2	T	C	11: 35,932,471 (GRCm39)	T1707A	probably damaging	Het
Tlr2	A	T	3: 83,743,781 (GRCm39)	D767E	probably benign	Het
Tlr7	C	T	X: 166,090,830 (GRCm39)	V219I	probably benign	Het
Tmprss7	A	G	16: 45,476,818 (GRCm39)	S815P	probably damaging	Het
Trav12-1	T	A	14: 53,776,017 (GRCm39)	W57R	probably damaging	Het
Uxt	T	C	X: 20,826,025 (GRCm39)	E66G	possibly damaging	Het
Vmn2r45	A	T	7: 8,475,369 (GRCm39)	M553K	probably damaging	Het
Vmn2r67	A	G	7: 84,785,951 (GRCm39)	W685R	probably benign	Het
Vstm5	A	C	9: 15,168,962 (GRCm39)	D144A	probably damaging	Het
Zfp592	A	G	7: 80,674,575 (GRCm39)	H513R	probably damaging	Het
Zfp830	T	A	11: 82,656,295 (GRCm39)		probably benign	Het
Zfp990	A	G	4: 145,261,492 (GRCm39)		probably null	Het

Other mutations in Drc7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Drc7	APN	8	95,782,629 (GRCm39)	splice site	probably benign
IGL00922:Drc7	APN	8	95,804,606 (GRCm39)	missense	probably benign	0.00
IGL01610:Drc7	APN	8	95,804,430 (GRCm39)	missense	probably damaging	1.00
IGL01642:Drc7	APN	8	95,785,767 (GRCm39)	missense	probably benign	0.34
IGL01793:Drc7	APN	8	95,797,905 (GRCm39)	missense	probably benign	0.25
IGL01936:Drc7	APN	8	95,800,760 (GRCm39)	missense	possibly damaging	0.89
IGL01953:Drc7	APN	8	95,785,753 (GRCm39)	missense	probably damaging	1.00
IGL01998:Drc7	APN	8	95,785,821 (GRCm39)	missense	probably damaging	1.00
IGL02237:Drc7	APN	8	95,799,507 (GRCm39)	missense	probably damaging	1.00
IGL02259:Drc7	APN	8	95,782,733 (GRCm39)	missense	probably benign
IGL02285:Drc7	APN	8	95,797,861 (GRCm39)	splice site	probably benign
IGL03032:Drc7	APN	8	95,802,875 (GRCm39)	splice site	probably benign
IGL03181:Drc7	APN	8	95,794,755 (GRCm39)	missense	probably benign	0.00
R0018:Drc7	UTSW	8	95,800,862 (GRCm39)	missense	probably damaging	0.99
R0018:Drc7	UTSW	8	95,800,862 (GRCm39)	missense	probably damaging	0.99
R0281:Drc7	UTSW	8	95,797,881 (GRCm39)	missense	possibly damaging	0.61
R0304:Drc7	UTSW	8	95,785,756 (GRCm39)	missense	probably damaging	1.00
R0362:Drc7	UTSW	8	95,799,483 (GRCm39)	missense	probably benign	0.00
R1127:Drc7	UTSW	8	95,799,416 (GRCm39)	missense	probably damaging	0.98
R1635:Drc7	UTSW	8	95,800,960 (GRCm39)	critical splice donor site	probably null
R1921:Drc7	UTSW	8	95,782,644 (GRCm39)	missense	unknown
R1931:Drc7	UTSW	8	95,797,881 (GRCm39)	missense	possibly damaging	0.61
R2256:Drc7	UTSW	8	95,801,637 (GRCm39)	missense	probably benign	0.16
R3851:Drc7	UTSW	8	95,788,464 (GRCm39)	nonsense	probably null
R4797:Drc7	UTSW	8	95,800,925 (GRCm39)	missense	probably damaging	0.96
R4827:Drc7	UTSW	8	95,798,267 (GRCm39)	missense	probably damaging	0.98
R4966:Drc7	UTSW	8	95,798,224 (GRCm39)	missense	probably benign	0.45
R5194:Drc7	UTSW	8	95,788,345 (GRCm39)	missense	probably benign	0.00
R5721:Drc7	UTSW	8	95,800,961 (GRCm39)	critical splice donor site	probably null
R5911:Drc7	UTSW	8	95,800,754 (GRCm39)	missense	probably damaging	1.00
R5993:Drc7	UTSW	8	95,800,820 (GRCm39)	missense	probably benign
R6056:Drc7	UTSW	8	95,801,679 (GRCm39)	missense	probably damaging	1.00
R6534:Drc7	UTSW	8	95,797,910 (GRCm39)	missense	probably damaging	1.00
R6576:Drc7	UTSW	8	95,801,886 (GRCm39)	missense	probably damaging	0.98
R6861:Drc7	UTSW	8	95,789,025 (GRCm39)	critical splice donor site	probably null
R7104:Drc7	UTSW	8	95,785,711 (GRCm39)	missense	probably damaging	0.99
R7157:Drc7	UTSW	8	95,800,778 (GRCm39)	missense	probably damaging	0.99
R7205:Drc7	UTSW	8	95,804,549 (GRCm39)	missense	probably damaging	1.00
R7283:Drc7	UTSW	8	95,798,207 (GRCm39)	missense	probably damaging	0.99
R7351:Drc7	UTSW	8	95,785,135 (GRCm39)	missense	probably benign	0.25
R7567:Drc7	UTSW	8	95,794,684 (GRCm39)	missense	probably benign	0.00
R8211:Drc7	UTSW	8	95,782,707 (GRCm39)	missense	unknown
R8281:Drc7	UTSW	8	95,788,805 (GRCm39)	missense	possibly damaging	0.81
R8401:Drc7	UTSW	8	95,800,763 (GRCm39)	missense	probably benign
R8821:Drc7	UTSW	8	95,788,845 (GRCm39)	missense	probably damaging	1.00
R8831:Drc7	UTSW	8	95,788,845 (GRCm39)	missense	probably damaging	1.00
R9044:Drc7	UTSW	8	95,797,077 (GRCm39)	missense	probably damaging	0.98
R9326:Drc7	UTSW	8	95,801,886 (GRCm39)	missense	probably benign	0.02
R9565:Drc7	UTSW	8	95,801,866 (GRCm39)	missense	probably damaging	0.98
R9581:Drc7	UTSW	8	95,785,782 (GRCm39)	missense	probably damaging	0.98
Y5404:Drc7	UTSW	8	95,794,778 (GRCm39)	small deletion	probably benign

Posted On

2015-12-18