Mutagenetix > Incidental Mutations

Incidental Mutation 'R2920:Cops7a'

255468

Institutional Source

Beutler Lab

Gene Symbol

Cops7a

Ensembl Gene

ENSMUSG00000030127

Gene Name

COP9 signalosome subunit 7A

Synonyms

COP9 complex S7a, D6Ertd35e

MMRRC Submission

040505-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2920 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124958413-124965538 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124962362 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 108 (V108A)

Ref Sequence

ENSEMBL: ENSMUSP00000114420 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032220] [ENSMUST00000112439] [ENSMUST00000129446] [ENSMUST00000129976] [ENSMUST00000148485]

AlphaFold

Q9CZ04

Predicted Effect

probably benign
Transcript: ENSMUST00000032220
AA Change: V108A

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000032220
Gene: ENSMUSG00000030127
AA Change: V108A

Domain	Start	End	E-Value	Type
low complexity region	16	30	N/A	INTRINSIC
PINT	87	177	2.65e-18	SMART
coiled coil region	197	230	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083831

Predicted Effect

probably benign
Transcript: ENSMUST00000112439
AA Change: V108A

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000108058
Gene: ENSMUSG00000030127
AA Change: V108A

Domain	Start	End	E-Value	Type
low complexity region	16	30	N/A	INTRINSIC
PINT	87	177	2.65e-18	SMART
coiled coil region	197	230	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129446
AA Change: V108A

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000114420
Gene: ENSMUSG00000030127
AA Change: V108A

Domain	Start	End	E-Value	Type
low complexity region	16	30	N/A	INTRINSIC
PINT	87	176	2e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129976
AA Change: V108A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000117584
Gene: ENSMUSG00000030127
AA Change: V108A

Domain	Start	End	E-Value	Type
low complexity region	16	30	N/A	INTRINSIC
PINT	87	177	2.65e-18	SMART
coiled coil region	197	222	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135645

Predicted Effect

probably benign
Transcript: ENSMUST00000148485

SMART Domains

Protein: ENSMUSP00000115348
Gene: ENSMUSG00000030127

Domain	Start	End	E-Value	Type
low complexity region	16	30	N/A	INTRINSIC
Blast:PINT	31	77	2e-7	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149346

Meta Mutation Damage Score

0.0807

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

96% (48/50)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the COP9 signalosome, an evolutionarily conserved multi-subunit protease that regulates the activity of the ubiquitin conjugation pathway. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Mar 2014]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	A	G	10: 10,390,243	Y1025H	probably damaging	Het
Adgrv1	C	T	13: 81,448,865	A4122T	probably benign	Het
Aloxe3	C	T	11: 69,142,923	T621I	probably damaging	Het
Atp2b3	A	C	X: 73,533,920	T318P	probably benign	Het
Atrx	A	T	X: 105,830,868	V1962D	probably benign	Het
Chl1	C	A	6: 103,695,343	T531K	probably damaging	Het
Clca3b	T	A	3: 144,837,853	D405V	probably benign	Het
Clca3b	C	T	3: 144,846,931	D115N	probably benign	Het
Comtd1	A	G	14: 21,847,618	L149P	possibly damaging	Het
Crebbp	A	G	16: 4,119,082	V343A	probably damaging	Het
Edrf1	T	A	7: 133,667,572	D1109E	probably benign	Het
Elmo3	A	G	8: 105,308,059	E359G	possibly damaging	Het
Ep400	C	A	5: 110,755,914	G273V	probably damaging	Het
Fgfr3	A	G	5: 33,733,940	N516S	probably damaging	Het
Glb1l	T	A	1: 75,209,190	E31D	probably benign	Het
Gm10093	A	G	17: 78,492,846	D422G	probably damaging	Het
Il12rb2	C	T	6: 67,360,568	V110I	probably damaging	Het
Ints3	T	C	3: 90,393,162	E884G	probably benign	Het
Lin7b	A	G	7: 45,368,397	V170A	possibly damaging	Het
Lrch2	A	T	X: 147,473,030	V750E	probably damaging	Het
Mepe	C	T	5: 104,338,247	R418C	probably damaging	Het
Mettl25	A	T	10: 105,765,177		probably null	Het
Mphosph9	G	A	5: 124,261,006	T982I	probably benign	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Myo10	G	T	15: 25,801,140	V1472L	probably damaging	Het
Myo9b	A	G	8: 71,325,857	K445R	probably damaging	Het
Ntng2	T	C	2: 29,204,211	M383V	probably benign	Het
Olfr1353	A	C	10: 78,970,012	D121A	probably damaging	Het
Olfr30	T	C	11: 58,455,577	Y124C	probably damaging	Het
Olfr702	C	T	7: 106,824,364	R54Q	probably benign	Het
Pak6	A	T	2: 118,694,007		probably benign	Het
Pcdh8	G	T	14: 79,768,714	P803Q	possibly damaging	Het
Pfkfb3	C	T	2: 11,484,327	V286I	probably benign	Het
Rbp3	C	T	14: 33,956,018	T641M	probably damaging	Het
Rint1	A	G	5: 23,805,402	E203G	probably benign	Het
Sdf2	G	C	11: 78,254,854	V126L	probably damaging	Het
Slc13a5	T	C	11: 72,247,791	E442G	possibly damaging	Het
Slc14a2	G	T	18: 78,158,297	S669*	probably null	Het
Slc38a7	A	G	8: 95,845,943	I157T	possibly damaging	Het
Slc4a5	T	C	6: 83,264,387	L215P	probably damaging	Het
Tbc1d9	T	C	8: 83,210,469	V60A	probably benign	Het
Tcerg1l	T	C	7: 138,248,379	R422G	probably damaging	Het
Tmem107	T	C	11: 69,071,421	L68P	probably damaging	Het
Ugt2b5	A	G	5: 87,125,407	F467L	possibly damaging	Het
Vmn1r19	A	T	6: 57,404,924	N154I	probably benign	Het
Vmn2r69	T	A	7: 85,411,765	I204L	probably benign	Het
Zbtb1	T	A	12: 76,385,845	S202T	possibly damaging	Het

Other mutations in Cops7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01936:Cops7a	APN	6	124962416	missense	probably benign	0.00
rubric	UTSW	6	124960176	missense	probably damaging	1.00
H8562:Cops7a	UTSW	6	124962453	unclassified	probably benign
R0139:Cops7a	UTSW	6	124961360	missense	probably damaging	0.98
R0242:Cops7a	UTSW	6	124964854	missense	probably benign	0.00
R0242:Cops7a	UTSW	6	124964854	missense	probably benign	0.00
R1121:Cops7a	UTSW	6	124962416	missense	probably benign	0.00
R1662:Cops7a	UTSW	6	124962438	missense	probably damaging	0.96
R1935:Cops7a	UTSW	6	124962396	nonsense	probably null
R3796:Cops7a	UTSW	6	124959832	missense	probably damaging	1.00
R3797:Cops7a	UTSW	6	124959832	missense	probably damaging	1.00
R3799:Cops7a	UTSW	6	124959832	missense	probably damaging	1.00
R3854:Cops7a	UTSW	6	124959832	missense	probably damaging	1.00
R5034:Cops7a	UTSW	6	124962620	splice site	probably null
R5858:Cops7a	UTSW	6	124960171	missense	possibly damaging	0.82
R6477:Cops7a	UTSW	6	124960176	missense	probably damaging	1.00
R6879:Cops7a	UTSW	6	124958785	splice site	probably null
R8906:Cops7a	UTSW	6	124962408	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- CATCTGATGAATGAGCCGGC -3'
(R):5'- TGAACCTCTGCAGTGTTAGACC -3'

Sequencing Primer
(F):5'- GGCTATTTTTACCCCAATCACAAAAG -3'
(R):5'- CCTCTGCAGTGTTAGACCATAATTG -3'

Posted On

2014-12-29