Mutagenetix > Incidental Mutation

Incidental Mutation 'R5346:Cops7b'

422596

Institutional Source

Beutler Lab

Gene Symbol

Cops7b

Ensembl Gene

ENSMUSG00000026240

Gene Name

COP9 signalosome subunit 7B

Synonyms

D1Wsu66e, COP9 complex S7b

MMRRC Submission

042925-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.245) question?

Stock #

R5346 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86510363-86534550 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 86510790 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137820 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027444] [ENSMUST00000027446] [ENSMUST00000121534] [ENSMUST00000122884] [ENSMUST00000138280] [ENSMUST00000143674] [ENSMUST00000146220] [ENSMUST00000149542]

AlphaFold

Q8BV13

Predicted Effect

probably benign
Transcript: ENSMUST00000027444

SMART Domains

Protein: ENSMUSP00000027444
Gene: ENSMUSG00000026239

Domain	Start	End	E-Value	Type
Pfam:GMP_PDE_delta	9	149	1e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000027446

SMART Domains

Protein: ENSMUSP00000027446
Gene: ENSMUSG00000026240

Domain	Start	End	E-Value	Type
PINT	87	177	2.07e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121534

SMART Domains

Protein: ENSMUSP00000113587
Gene: ENSMUSG00000026240

Domain	Start	End	E-Value	Type
PINT	87	177	2.07e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000122884

SMART Domains

Protein: ENSMUSP00000119807
Gene: ENSMUSG00000026240

Domain	Start	End	E-Value	Type
PDB:3CHM\|A	4	78	4e-9	PDB
Blast:PINT	30	54	7e-8	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000138280

SMART Domains

Protein: ENSMUSP00000115056
Gene: ENSMUSG00000026240

Domain	Start	End	E-Value	Type
Blast:PINT	30	54	9e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000143674

SMART Domains

Protein: ENSMUSP00000137956
Gene: ENSMUSG00000026239

Domain	Start	End	E-Value	Type
Pfam:GMP_PDE_delta	7	64	4e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000146220

SMART Domains

Protein: ENSMUSP00000137820
Gene: ENSMUSG00000026239

Domain	Start	End	E-Value	Type
Pfam:GMP_PDE_delta	7	124	6.9e-41	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000149542
AA Change: Y33C

SMART Domains

Protein: ENSMUSP00000122317
Gene: ENSMUSG00000026240
AA Change: Y33C

Domain	Start	End	E-Value	Type
low complexity region	137	148	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150653

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193369

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148683

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap2	T	A	5: 62,872,089 (GRCm39)	Y513F	probably benign	Het
Cluh	C	A	11: 74,556,044 (GRCm39)	H832N	probably damaging	Het
Cntfr	G	T	4: 41,675,042 (GRCm39)	Y21*	probably null	Het
Cog2	T	C	8: 125,273,370 (GRCm39)	S570P	possibly damaging	Het
Cpox	G	A	16: 58,495,649 (GRCm39)	G322D	probably damaging	Het
Dop1a	A	G	9: 86,402,835 (GRCm39)	D1345G	probably damaging	Het
Dqx1	G	A	6: 83,036,700 (GRCm39)	D235N	possibly damaging	Het
Dscaml1	A	G	9: 45,361,857 (GRCm39)	I206V	possibly damaging	Het
Ednra	T	C	8: 78,401,597 (GRCm39)	Y231C	probably damaging	Het
Ehhadh	T	C	16: 21,581,540 (GRCm39)	Y484C	probably damaging	Het
Fmnl3	A	T	15: 99,229,871 (GRCm39)	V150D	probably damaging	Het
Gabrb2	T	A	11: 42,312,216 (GRCm39)	S14T	probably benign	Het
Gm10608	GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,792 (GRCm39)		probably null	Het
Gpatch2	T	C	1: 186,958,065 (GRCm39)	L140P	probably benign	Het
Gsdmc	A	G	15: 63,648,735 (GRCm39)	Y400H	probably damaging	Het
Heatr5b	A	G	17: 79,135,415 (GRCm39)	S239P	probably benign	Het
Hmcn1	A	T	1: 150,498,995 (GRCm39)	I4004N	probably damaging	Het
Insc	T	A	7: 114,403,776 (GRCm39)	N63K	possibly damaging	Het
Mmp28	T	C	11: 83,333,489 (GRCm39)	H484R	probably benign	Het
Nptn	C	A	9: 58,531,070 (GRCm39)	Y64*	probably null	Het
Nsd2	T	A	5: 34,036,480 (GRCm39)	S655T	possibly damaging	Het
Nub1	A	G	5: 24,902,414 (GRCm39)	E253G	probably damaging	Het
Or3a1d	T	C	11: 74,237,496 (GRCm39)	R305G	probably benign	Het
Pde3b	T	A	7: 114,105,425 (GRCm39)	H452Q	probably benign	Het
Pkhd1	T	C	1: 20,462,321 (GRCm39)	M2078V	probably benign	Het
Pkhd1	T	C	1: 20,593,658 (GRCm39)	D1485G	probably damaging	Het
Pkhd1l1	A	C	15: 44,404,363 (GRCm39)	T2331P	probably damaging	Het
Plk5	G	A	10: 80,198,942 (GRCm39)	G433E	probably damaging	Het
Pnliprp2	T	A	19: 58,748,232 (GRCm39)	D4E	probably benign	Het
Prag1	A	G	8: 36,570,839 (GRCm39)	D474G	probably damaging	Het
Psmc1	A	G	12: 100,086,359 (GRCm39)	N332S	probably damaging	Het
Rad9a	G	C	19: 4,251,517 (GRCm39)		probably null	Het
Slf1	A	G	13: 77,240,490 (GRCm39)	V396A	probably benign	Het
Stat6	G	A	10: 127,488,182 (GRCm39)	R312K	probably benign	Het
Tgm1	A	T	14: 55,948,629 (GRCm39)	V174E	probably damaging	Het
Tnc	A	G	4: 63,926,892 (GRCm39)	V878A	probably benign	Het
Ube4b	A	T	4: 149,421,881 (GRCm39)	H969Q	possibly damaging	Het
Ubr4	T	C	4: 139,155,802 (GRCm39)	I2209T	probably damaging	Het
Ulk2	A	C	11: 61,725,740 (GRCm39)	L112R	probably damaging	Het
Wdr35	T	C	12: 9,028,684 (GRCm39)	Y101H	probably benign	Het
Xpo7	A	G	14: 70,921,117 (GRCm39)	L617P	probably damaging	Het

Other mutations in Cops7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01994:Cops7b	APN	1	86,528,828 (GRCm39)	missense	probably damaging	1.00
IGL02505:Cops7b	APN	1	86,520,043 (GRCm39)	missense	probably benign	0.01
IGL03134:Cops7b	UTSW	1	86,520,056 (GRCm39)	missense	probably damaging	1.00
R0423:Cops7b	UTSW	1	86,526,753 (GRCm39)	missense	probably benign	0.07
R0479:Cops7b	UTSW	1	86,532,798 (GRCm39)	missense	probably benign	0.00
R1442:Cops7b	UTSW	1	86,532,835 (GRCm39)	missense	probably benign	0.00
R5004:Cops7b	UTSW	1	86,515,132 (GRCm39)	unclassified	probably benign
R7406:Cops7b	UTSW	1	86,528,852 (GRCm39)	missense	probably benign	0.00
R8132:Cops7b	UTSW	1	86,514,916 (GRCm39)	missense	probably damaging	1.00
R8806:Cops7b	UTSW	1	86,517,031 (GRCm39)	missense	probably damaging	0.99
R8813:Cops7b	UTSW	1	86,528,846 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTTCCCAGCATCCCAGAGAG -3'
(R):5'- TTTAGCTCACCCAGTCCAAAGC -3'

Sequencing Primer
(F):5'- CCATTAGAGGCCAGGGACTAC -3'
(R):5'- AGCAGAAATATAACATAAACCCTGC -3'

Posted On

2016-08-04