Mutagenetix > Incidental Mutation

Incidental Mutation 'Y5404:Drc7'

201543

Institutional Source

Beutler Lab

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 #

Y5404 ()

Quality Score

126

Status

Not validated

Chromosome

Chromosomal Location

95781731-95804769 bp(+) (GRCm39)

Type of Mutation

small deletion (1 aa in frame mutation)

DNA Base Change (assembly)

GGATGATGATGATGATGATG to GGATGATGATGATGATG at 95794778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000053972 (fasta)

Gene Model

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

AlphaFold

Q6V3W6

Predicted Effect

probably benign
Transcript: ENSMUST00000058479

SMART Domains

Protein: ENSMUSP00000053972
Gene: ENSMUSG00000031786

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: 97.3%
3x: 96.5%
10x: 94.0%
20x: 88.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 4 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bbs1	T	C	19: 4,950,635 (GRCm39)	M203V	possibly damaging	Het
Gm4978	T	G	9: 69,357,984 (GRCm39)		probably benign	Het
Rpf1	T	C	3: 146,218,591 (GRCm39)	T148A	probably damaging	Het
Syt4	A	G	18: 31,576,844 (GRCm39)	F170S	probably damaging	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
IGL02940:Drc7	APN	8	95,800,925 (GRCm39)	missense	probably damaging	0.99
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

Predicted Primers

PCR Primer
(F):5'- TGGAGCTGACATTCTGCAC -3'
(R):5'- AGCTCTACAAGACCCCTCTG -3'

Sequencing Primer
(F):5'- ATTCTGCACAGCCCCTGATGG -3'
(R):5'- ACCCCTCTGCTTGGAAGAATGTAG -3'

Posted On

2014-06-23