Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01347:Gps1'

75105

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gps1

Ensembl Gene

ENSMUSG00000025156

Gene Name

G protein pathway suppressor 1

Synonyms

Csn1, COPS1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01347

Quality Score

Status

Chromosome

Chromosomal Location

120675098-120679928 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120679086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 378 (V378A)

Ref Sequence

ENSEMBL: ENSMUSP00000097711 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000100134
AA Change: V378A

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000097711
Gene: ENSMUSG00000025156
AA Change: V378A

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 benign
Transcript: ENSMUST00000116305
AA Change: V378A

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112007
Gene: ENSMUSG00000025156
AA Change: V378A

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 benign
Transcript: ENSMUST00000172809
AA Change: V417A

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000133855
Gene: ENSMUSG00000025156
AA Change: V417A

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

noncoding transcript
Transcript: ENSMUST00000156723

Predicted Effect

probably benign
Transcript: ENSMUST00000208737
AA Change: V377A

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146008

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132422

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125156

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142418

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144519

Predicted Effect

probably benign
Transcript: ENSMUST00000153678

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

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

Coding Region Coverage

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc1l2	A	T	6: 48,909,477 (GRCm39)	Y574F	probably benign	Het
Apc	C	T	18: 34,450,723 (GRCm39)	P2506S	probably damaging	Het
Bdp1	T	A	13: 100,206,711 (GRCm39)	K610N	possibly damaging	Het
Bri3bp	T	G	5: 125,531,581 (GRCm39)	C176G	probably damaging	Het
Carnmt1	A	G	19: 18,668,818 (GRCm39)	I248V	probably benign	Het
Ccdc88b	A	G	19: 6,822,454 (GRCm39)	L1475P	probably damaging	Het
Cfap100	C	T	6: 90,383,103 (GRCm39)	V511M	possibly damaging	Het
Chchd3	T	C	6: 32,780,838 (GRCm39)	N78S	probably benign	Het
Cnnm4	G	A	1: 36,537,115 (GRCm39)	E480K	possibly damaging	Het
Cyp2d34	T	A	15: 82,500,978 (GRCm39)	I385F	possibly damaging	Het
D930048N14Rik	T	A	11: 51,545,615 (GRCm39)		probably benign	Het
Dgkg	A	T	16: 22,419,340 (GRCm39)	D53E	probably benign	Het
Dlx3	T	A	11: 95,011,359 (GRCm39)	L71H	probably damaging	Het
Egln2	A	C	7: 26,859,717 (GRCm39)	V332G	probably null	Het
Entpd2	A	G	2: 25,288,746 (GRCm39)	Q250R	probably benign	Het
Epyc	A	G	10: 97,510,593 (GRCm39)	D132G	probably damaging	Het
Fxr2	A	G	11: 69,543,114 (GRCm39)	D637G	probably benign	Het
Gapvd1	A	G	2: 34,596,708 (GRCm39)		probably null	Het
Gbp11	G	A	5: 105,479,194 (GRCm39)		probably benign	Het
Gm17175	A	T	14: 51,808,307 (GRCm39)	C162S	probably damaging	Het
Gm5499	C	T	17: 87,386,339 (GRCm39)		noncoding transcript	Het
Grik1	C	T	16: 87,754,481 (GRCm39)	R368Q	probably benign	Het
Gsap	A	G	5: 21,431,318 (GRCm39)	E214G	probably benign	Het
H2bc13	A	G	13: 21,900,064 (GRCm39)	Y84H	probably damaging	Het
Jdp2	T	C	12: 85,655,020 (GRCm39)	S28P	probably benign	Het
Kif26b	T	C	1: 178,698,240 (GRCm39)	F577S	probably damaging	Het
Kl	G	A	5: 150,904,130 (GRCm39)	G294D	probably damaging	Het
Lgsn	T	A	1: 31,243,041 (GRCm39)	D374E	probably damaging	Het
Lman1	T	C	18: 66,124,681 (GRCm39)	I353V	probably damaging	Het
Lmna	T	C	3: 88,392,270 (GRCm39)	H374R	probably benign	Het
Lrrc57	A	G	2: 120,439,286 (GRCm39)	S31P	probably benign	Het
Lum	T	A	10: 97,404,547 (GRCm39)	N147K	probably damaging	Het
Or6n2	T	C	1: 173,897,632 (GRCm39)	I256T	probably benign	Het
Or7a41	A	G	10: 78,871,445 (GRCm39)	T272A	probably benign	Het
P4ha3	C	A	7: 99,955,140 (GRCm39)	L332I	probably damaging	Het
Pelp1	A	G	11: 70,286,505 (GRCm39)	I541T	probably damaging	Het
Pja2	A	C	17: 64,620,023 (GRCm39)	S2A	probably benign	Het
Rhbdl3	T	C	11: 80,244,268 (GRCm39)	L325P	probably damaging	Het
Robo2	T	C	16: 74,149,744 (GRCm39)	D28G	probably damaging	Het
Rpa1	A	G	11: 75,198,111 (GRCm39)	Y470H	probably damaging	Het
Rtn3	T	C	19: 7,434,645 (GRCm39)	N430S	probably benign	Het
Scg2	T	A	1: 79,414,538 (GRCm39)	I62L	probably benign	Het
Scn5a	T	A	9: 119,391,507 (GRCm39)	K62*	probably null	Het
Sec23ip	T	C	7: 128,364,129 (GRCm39)	V469A	probably benign	Het
Shank1	A	G	7: 43,991,544 (GRCm39)	T663A	unknown	Het
Slco1a7	A	T	6: 141,700,192 (GRCm39)	Y113*	probably null	Het
Stab2	G	T	10: 86,737,567 (GRCm39)		probably null	Het
Tmcc3	T	C	10: 94,418,147 (GRCm39)	L305P	probably damaging	Het
Tmem145	A	G	7: 25,014,260 (GRCm39)	N458S	probably damaging	Het
Tpr	G	A	1: 150,302,738 (GRCm39)	R1412Q	probably damaging	Het
Wdr1	A	T	5: 38,703,058 (GRCm39)	F173I	possibly damaging	Het
Wdr17	C	T	8: 55,104,380 (GRCm39)	V898I	probably benign	Het
Wdr64	A	T	1: 175,547,899 (GRCm39)	L145F	probably benign	Het
Wnt10b	A	G	15: 98,674,826 (GRCm39)		probably benign	Het
Zfyve26	A	T	12: 79,298,957 (GRCm39)		probably null	Het

Other mutations in Gps1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R2366:Gps1	UTSW	11	120,678,945 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2013-10-07