Mutagenetix > Incidental Mutation

Incidental Mutation 'R2366:Gps1'

246345

Institutional Source

Beutler Lab

Gene Symbol

Gps1

Ensembl Gene

ENSMUSG00000025156

Gene Name

G protein pathway suppressor 1

Synonyms

Csn1, COPS1

MMRRC Submission

040347-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2366 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120675098-120679928 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 120678945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 404 (I404L)

Ref Sequence

ENSEMBL: ENSMUSP00000133855 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026151] [ENSMUST00000026156] [ENSMUST00000100134] [ENSMUST00000106133] [ENSMUST00000106135] [ENSMUST00000116305] [ENSMUST00000172809] [ENSMUST00000208737] [ENSMUST00000153678] [ENSMUST00000143139] [ENSMUST00000167023]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000026151

SMART Domains

Protein: ENSMUSP00000026151
Gene: ENSMUSG00000025155

Domain	Start	End	E-Value	Type
Pfam:Dus	20	314	5.5e-76	PFAM
low complexity region	367	378	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000026156

SMART Domains

Protein: ENSMUSP00000026156
Gene: ENSMUSG00000025158

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:Fringe	54	306	1.1e-116	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000100134
AA Change: I365L

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

SMART Domains

Protein: ENSMUSP00000097711
Gene: ENSMUSG00000025156
AA Change: I365L

Domain	Start	End	E-Value	Type
Pfam:RPN7	123	305	4.9e-78	PFAM
PINT	356	439	5.77e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106133

SMART Domains

Protein: ENSMUSP00000101739
Gene: ENSMUSG00000025155

Domain	Start	End	E-Value	Type
Pfam:Dus	20	314	8.5e-76	PFAM
low complexity region	367	378	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106135

SMART Domains

Protein: ENSMUSP00000101741
Gene: ENSMUSG00000025155

Domain	Start	End	E-Value	Type
Pfam:Dus	20	314	8.5e-76	PFAM
low complexity region	367	378	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000116305
AA Change: I365L

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

SMART Domains

Protein: ENSMUSP00000112007
Gene: ENSMUSG00000025156
AA Change: I365L

Domain	Start	End	E-Value	Type
Pfam:RPN7	123	305	1.3e-77	PFAM
PINT	356	439	5.77e-19	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123273

Predicted Effect

probably damaging
Transcript: ENSMUST00000172809
AA Change: I404L

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

SMART Domains

Protein: ENSMUSP00000133855
Gene: ENSMUSG00000025156
AA Change: I404L

Domain	Start	End	E-Value	Type
low complexity region	4	24	N/A	INTRINSIC
low complexity region	37	49	N/A	INTRINSIC
Pfam:RPN7	162	344	8.8e-77	PFAM
PINT	395	478	5.77e-19	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000208737
AA Change: I364L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125156

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146008

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142418

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144519

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132422

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156723

Predicted Effect

probably benign
Transcript: ENSMUST00000153678

Predicted Effect

probably benign
Transcript: ENSMUST00000143139

SMART Domains

Protein: ENSMUSP00000118773
Gene: ENSMUSG00000025155

Domain	Start	End	E-Value	Type
Pfam:Dus	20	194	1.6e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167023

SMART Domains

Protein: ENSMUSP00000132516
Gene: ENSMUSG00000025155

Domain	Start	End	E-Value	Type
Pfam:Dus	20	322	1.6e-75	PFAM
low complexity region	360	371	N/A	INTRINSIC

Meta Mutation Damage Score

0.6541

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (39/39)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is known to suppress G-protein and mitogen-activated signal transduction in mammalian cells. The encoded protein shares significant similarity with Arabidopsis FUS6, which is a regulator of light-mediated signal transduction in plant cells. [provided by RefSeq, Mar 2016]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630091E08Rik	G	A	7: 98,192,949 (GRCm39)		noncoding transcript	Het
Adamts5	C	T	16: 85,659,646 (GRCm39)	G882D	probably damaging	Het
Arl6ip6	T	C	2: 53,082,379 (GRCm39)	V82A	probably benign	Het
Brd10	A	T	19: 29,731,035 (GRCm39)	I726N	probably damaging	Het
Cd38	T	G	5: 44,060,932 (GRCm39)		probably benign	Het
Cep250	G	A	2: 155,834,552 (GRCm39)	R2159K	probably damaging	Het
Col6a6	C	A	9: 105,632,893 (GRCm39)	G1457V	probably damaging	Het
Cyp2c69	T	C	19: 39,866,038 (GRCm39)	N185S	probably benign	Het
Cyp2d12	T	A	15: 82,439,355 (GRCm39)	L3Q	probably damaging	Het
Dnajc28	G	A	16: 91,413,755 (GRCm39)	T187M	probably damaging	Het
Drc1	A	G	5: 30,523,894 (GRCm39)	*754W	probably null	Het
Erbin	G	A	13: 103,981,417 (GRCm39)	H503Y	probably damaging	Het
F3	G	A	3: 121,526,194 (GRCm39)		probably null	Het
Gm10033	A	T	8: 69,826,232 (GRCm39)	M112K	unknown	Het
Hc	T	C	2: 34,903,648 (GRCm39)	N1002S	probably benign	Het
Impg2	T	C	16: 56,080,236 (GRCm39)	I571T	probably benign	Het
Knop1	C	A	7: 118,451,751 (GRCm39)	V323F	possibly damaging	Het
Kntc1	C	T	5: 123,919,255 (GRCm39)	L845F	probably damaging	Het
Lsm5	T	C	6: 56,680,003 (GRCm39)	D53G	probably damaging	Het
Lzts1	T	C	8: 69,593,257 (GRCm39)		probably null	Het
Matr3	A	T	18: 35,721,448 (GRCm39)	N473I	probably damaging	Het
Med1	A	G	11: 98,052,008 (GRCm39)	V452A	probably damaging	Het
Napsa	T	A	7: 44,231,909 (GRCm39)	D44E	probably damaging	Het
Nbeal1	T	C	1: 60,290,511 (GRCm39)	F1036S	probably damaging	Het
Ncapg2	G	A	12: 116,384,349 (GRCm39)	W270*	probably null	Het
Nherf1	G	A	11: 115,054,454 (GRCm39)	V35M	probably benign	Het
Or5af1	C	A	11: 58,722,039 (GRCm39)	Q20K	probably benign	Het
Pik3ca	G	A	3: 32,516,943 (GRCm39)	W1057*	probably null	Het
Pkd1l2	A	T	8: 117,770,056 (GRCm39)	D1133E	probably benign	Het
Pramel39-ps	T	C	5: 94,450,972 (GRCm39)	K385E	probably benign	Het
Prox1	T	A	1: 189,894,079 (GRCm39)	E122V	probably damaging	Het
Rest	C	A	5: 77,416,034 (GRCm39)	H83N	probably benign	Het
Rundc3a	A	G	11: 102,288,491 (GRCm39)	I68V	probably damaging	Het
Stx6	A	T	1: 155,077,706 (GRCm39)	I238L	probably benign	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ubqln3	C	A	7: 103,790,256 (GRCm39)	Q611H	probably damaging	Het
Usp6nl	T	A	2: 6,445,770 (GRCm39)	H559Q	probably benign	Het
Vipr1	T	G	9: 121,494,250 (GRCm39)	V277G	probably benign	Het
Zfp101	A	T	17: 33,599,972 (GRCm39)	C595S	probably benign	Het
Zfp398	C	T	6: 47,840,143 (GRCm39)	T124I	possibly damaging	Het

Other mutations in Gps1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01347:Gps1	APN	11	120,679,086 (GRCm39)	missense	probably benign	0.44
IGL02803:Gps1	APN	11	120,677,649 (GRCm39)	missense	probably damaging	1.00
R1977:Gps1	UTSW	11	120,676,652 (GRCm39)	missense	probably damaging	0.98
R3923:Gps1	UTSW	11	120,677,259 (GRCm39)	missense	possibly damaging	0.74
R4631:Gps1	UTSW	11	120,679,065 (GRCm39)	splice site	probably null
R5701:Gps1	UTSW	11	120,676,008 (GRCm39)	missense	probably benign	0.41
R6415:Gps1	UTSW	11	120,678,548 (GRCm39)	missense	possibly damaging	0.56
R6824:Gps1	UTSW	11	120,678,254 (GRCm39)	missense	probably damaging	0.98
R7557:Gps1	UTSW	11	120,677,193 (GRCm39)	missense	probably benign	0.01
R7936:Gps1	UTSW	11	120,677,199 (GRCm39)	missense	probably damaging	0.98
R9608:Gps1	UTSW	11	120,677,641 (GRCm39)	missense	probably benign	0.21
R9624:Gps1	UTSW	11	120,677,434 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATGCTTGAAGATGCTGGAC -3'
(R):5'- AATAAGGCCCTCCAGAATGAGC -3'

Sequencing Primer
(F):5'- CTTGAAGATGCTGGACGAGATG -3'
(R):5'- CTCCAGAATGAGCTGTGTCAG -3'

Posted On

2014-10-30