Mutagenetix > Incidental Mutation

Incidental Mutation 'R8806:Cops7b'

672040

Institutional Source

Beutler Lab

Gene Symbol

Cops7b

Ensembl Gene

ENSMUSG00000026240

Gene Name

COP9 signalosome subunit 7B

Synonyms

D1Wsu66e, COP9 complex S7b

MMRRC Submission

068612-MU

Accession Numbers

Essential gene?

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

Stock #

R8806 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86510363-86534550 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 86517031 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 44 (G44R)

Ref Sequence

ENSEMBL: ENSMUSP00000027446 (fasta)

Gene Model

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

AlphaFold

Q8BV13

Predicted Effect

probably damaging
Transcript: ENSMUST00000027446
AA Change: G44R

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000027446
Gene: ENSMUSG00000026240
AA Change: G44R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000121534
AA Change: G44R

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113587
Gene: ENSMUSG00000026240
AA Change: G44R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000122884
AA Change: G44R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119807
Gene: ENSMUSG00000026240
AA Change: G44R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000138280
AA Change: G44R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115056
Gene: ENSMUSG00000026240
AA Change: G44R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000149542

SMART Domains

Protein: ENSMUSP00000122317
Gene: ENSMUSG00000026240

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

Meta Mutation Damage Score

0.8809

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	T	C	4: 53,084,520 (GRCm39)	M586V	probably benign	Het
Adam6b	G	A	12: 113,455,418 (GRCm39)	R745H	possibly damaging	Het
Afg3l1	A	G	8: 124,220,657 (GRCm39)	D462G	probably damaging	Het
Anapc1	T	A	2: 128,464,333 (GRCm39)	Q1721L	possibly damaging	Het
Arhgap11a	T	C	2: 113,665,107 (GRCm39)	Y497C	possibly damaging	Het
Bcl7b	T	G	5: 135,208,824 (GRCm39)	S96A	possibly damaging	Het
Birc6	T	C	17: 74,949,311 (GRCm39)	V3111A	probably damaging	Het
Cbx1	A	G	11: 96,692,383 (GRCm39)	D90G	possibly damaging	Het
Cdkl3	T	C	11: 51,923,295 (GRCm39)	F524S	possibly damaging	Het
D130043K22Rik	A	G	13: 25,083,618 (GRCm39)	S1028G	probably benign	Het
Decr1	T	A	4: 15,945,351 (GRCm39)	M1L	probably benign	Het
Dmtn	T	C	14: 70,852,388 (GRCm39)	I167V	probably benign	Het
Dnah9	A	G	11: 65,750,309 (GRCm39)	L3932P	probably damaging	Het
Ece1	T	A	4: 137,672,452 (GRCm39)	I365N	probably damaging	Het
Efcab3	T	A	11: 104,928,695 (GRCm39)	M4815K	probably benign	Het
Exo5	T	C	4: 120,779,602 (GRCm39)	T88A	probably benign	Het
Frem3	T	C	8: 81,390,064 (GRCm39)	Y1772H	probably benign	Het
Gm5160	A	G	18: 14,557,931 (GRCm39)	N3D	possibly damaging	Het
Gm7138	T	A	10: 77,612,717 (GRCm39)	D21V	unknown	Het
Gm7298	C	A	6: 121,761,641 (GRCm39)		silent	Het
Gucy2e	A	G	11: 69,126,942 (GRCm39)	V177A	probably benign	Het
Islr	C	A	9: 58,064,256 (GRCm39)	G417V	unknown	Het
Kif13a	A	T	13: 46,914,813 (GRCm39)	M1458K	possibly damaging	Het
Mcm7	T	C	5: 138,163,347 (GRCm39)	D642G	possibly damaging	Het
Med24	A	T	11: 98,595,970 (GRCm39)	I941N	probably damaging	Het
Mrgprb8	C	T	7: 48,038,976 (GRCm39)	P216S	possibly damaging	Het
Myo5c	T	A	9: 75,150,054 (GRCm39)	V13D	probably damaging	Het
N4bp2	T	A	5: 65,965,551 (GRCm39)	I1200K	possibly damaging	Het
Naip6	G	A	13: 100,437,161 (GRCm39)	T454M	possibly damaging	Het
Nfkb1	T	C	3: 135,295,213 (GRCm39)	Y877C	probably damaging	Het
Nolc1	C	A	19: 46,071,471 (GRCm39)	S473R	unknown	Het
Nop16	A	C	13: 54,737,672 (GRCm39)		probably benign	Het
Nr3c2	T	C	8: 77,969,092 (GRCm39)	I959T	probably damaging	Het
Nup88	T	G	11: 70,834,941 (GRCm39)	K692N	probably benign	Het
Nvl	C	A	1: 180,922,619 (GRCm39)	G818V	probably benign	Het
Or1i2	G	T	10: 78,447,974 (GRCm39)	T167N	probably benign	Het
Or4k6	T	A	14: 50,475,376 (GRCm39)	E322V	probably benign	Het
Or4n4	A	G	14: 50,519,236 (GRCm39)	I158T	probably benign	Het
Or4s2b	T	C	2: 88,508,955 (GRCm39)	V245A	probably benign	Het
Or8b49	A	T	9: 38,506,405 (GRCm39)	D296V	probably damaging	Het
Or8k1	T	C	2: 86,047,200 (GRCm39)	I285V	probably damaging	Het
Plxnc1	G	A	10: 94,635,140 (GRCm39)	S1362L	probably damaging	Het
Ppfia2	C	T	10: 106,694,114 (GRCm39)	A696V	probably damaging	Het
Prl	A	G	13: 27,243,515 (GRCm39)	Y62C	probably damaging	Het
Rnf135	A	G	11: 80,089,762 (GRCm39)	D366G	probably damaging	Het
Rrp8	A	G	7: 105,384,244 (GRCm39)	L86P	probably damaging	Het
Rsph4a	T	C	10: 33,785,445 (GRCm39)	V452A	probably damaging	Het
Runx2	C	A	17: 44,950,570 (GRCm39)	V410L	probably benign	Het
Samd9l	T	C	6: 3,376,665 (GRCm39)	T199A	probably damaging	Het
Sik3	T	C	9: 46,120,365 (GRCm39)	S745P	probably damaging	Het
Slc35e1	T	A	8: 73,241,973 (GRCm39)	S250C	probably damaging	Het
Snx31	A	G	15: 36,537,698 (GRCm39)	F160S	probably damaging	Het
Spata31g1	A	G	4: 42,971,261 (GRCm39)	D198G	probably benign	Het
Stim2	T	A	5: 54,156,257 (GRCm39)	V11E	probably benign	Het
Tektl1	A	G	10: 78,588,306 (GRCm39)	V168A	probably damaging	Het
Tmem135	G	C	7: 88,797,186 (GRCm39)	L357V	probably benign	Het
Tox4	T	C	14: 52,524,318 (GRCm39)	S151P	probably damaging	Het
Trim34b	A	T	7: 103,985,319 (GRCm39)	D318V	probably damaging	Het
Ubtd1	T	C	19: 42,022,195 (GRCm39)	S156P	probably damaging	Het
Usp34	C	A	11: 23,434,143 (GRCm39)	L3240M		Het
Vmn1r56	T	C	7: 5,198,805 (GRCm39)	S271G	probably damaging	Het
Vps13b	T	C	15: 35,472,212 (GRCm39)		probably benign	Het
Vps13c	T	C	9: 67,853,110 (GRCm39)	F2401S	probably damaging	Het
Zbtb11	G	A	16: 55,802,637 (GRCm39)	V216I	probably damaging	Het
Zfp931	T	C	2: 177,709,589 (GRCm39)	T266A	possibly damaging	Het
Zfp956	A	G	6: 47,933,042 (GRCm39)	M106V	probably benign	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
R5346:Cops7b	UTSW	1	86,510,790 (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
R8813:Cops7b	UTSW	1	86,528,846 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGATGACTGACCCATTTTCC -3'
(R):5'- CTAATTGATCCAAGTTCAAGGGG -3'

Sequencing Primer
(F):5'- TCCTTTTGGACAGATCTCAAGACCAG -3'
(R):5'- AAGACATTATCCTTGATCTCCACC -3'

Posted On

2021-04-30