Mutagenetix > Incidental Mutation

Incidental Mutation 'R1977:Gps1'

221900

Institutional Source

Beutler Lab

Gene Symbol

Gps1

Ensembl Gene

ENSMUSG00000025156

Gene Name

G protein pathway suppressor 1

Synonyms

Csn1, COPS1

MMRRC Submission

039990-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1977 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120675098-120679928 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120676652 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 124 (T124A)

Ref Sequence

ENSEMBL: ENSMUSP00000133855 (fasta)

Gene Model

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

possibly damaging
Transcript: ENSMUST00000100134
AA Change: T85A

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097711
Gene: ENSMUSG00000025156
AA Change: T85A

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

possibly damaging
Transcript: ENSMUST00000116305
AA Change: T85A

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112007
Gene: ENSMUSG00000025156
AA Change: T85A

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: T124A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133855
Gene: ENSMUSG00000025156
AA Change: T124A

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 benign
Transcript: ENSMUST00000208737
AA Change: T85A

PolyPhen 2 Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125156

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142418

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144519

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132422

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146008

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156723

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

Meta Mutation Damage Score

0.1076

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

99% (66/67)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf3	G	T	8: 123,508,272 (GRCm39)	C256F	probably damaging	Het
Adgra2	T	A	8: 27,605,789 (GRCm39)	V647D	possibly damaging	Het
AI593442	A	T	9: 52,589,492 (GRCm39)	S28R	probably damaging	Het
Akr1c21	G	C	13: 4,624,211 (GRCm39)	G22R	probably damaging	Het
Ampd3	T	C	7: 110,402,369 (GRCm39)	W458R	probably damaging	Het
Arhgap23	G	T	11: 97,342,273 (GRCm39)	R185L	possibly damaging	Het
Arhgap45	A	T	10: 79,856,652 (GRCm39)	I67F	probably damaging	Het
Asah1	A	G	8: 41,796,554 (GRCm39)		probably null	Het
Atl2	A	G	17: 80,160,019 (GRCm39)	Y56H	probably damaging	Het
Carf	A	T	1: 60,185,295 (GRCm39)	I447F	probably damaging	Het
Crmp1	A	G	5: 37,433,627 (GRCm39)	N162S	probably damaging	Het
Cyp2a5	A	G	7: 26,535,347 (GRCm39)	E103G	probably benign	Het
Cyp2c40	T	C	19: 39,766,485 (GRCm39)	D370G	probably damaging	Het
Dhrs2	T	A	14: 55,472,112 (GRCm39)	M1K	probably null	Het
Dnah17	T	C	11: 118,003,417 (GRCm39)	E810G	possibly damaging	Het
E2f5	T	A	3: 14,652,416 (GRCm39)	I84N	probably damaging	Het
Eif2ak4	A	T	2: 118,292,238 (GRCm39)	K1185*	probably null	Het
Eif4ebp1	T	A	8: 27,765,129 (GRCm39)	M115K	probably damaging	Het
Evi5	A	T	5: 107,947,005 (GRCm39)	L505*	probably null	Het
Fbxw25	T	A	9: 109,481,924 (GRCm39)	Y254F	possibly damaging	Het
Gm7964	T	A	7: 83,406,560 (GRCm39)	F439Y	possibly damaging	Het
Hopx	T	C	5: 77,265,463 (GRCm39)		probably benign	Het
Hoxd3	A	G	2: 74,574,620 (GRCm39)	S89G	possibly damaging	Het
Hrc	A	T	7: 44,985,638 (GRCm39)	D263V	probably damaging	Het
Hs6st3	T	C	14: 119,375,888 (GRCm39)	I21T	probably benign	Het
Izumo4	A	G	10: 80,538,955 (GRCm39)	Y106C	probably damaging	Het
Lama2	A	T	10: 26,866,796 (GRCm39)		probably null	Het
Lcorl	A	C	5: 45,932,762 (GRCm39)	S123R	probably null	Het
Lgr4	A	T	2: 109,842,273 (GRCm39)	I729F	probably damaging	Het
Lonp1	T	C	17: 56,922,068 (GRCm39)	T771A	possibly damaging	Het
Matn3	T	A	12: 9,011,110 (GRCm39)		probably benign	Het
Mdc1	T	A	17: 36,161,822 (GRCm39)	S912T	probably benign	Het
Mgam	G	A	6: 40,641,814 (GRCm39)	V556I	probably benign	Het
Myom2	A	T	8: 15,135,263 (GRCm39)	I489F	possibly damaging	Het
Nfatc2	G	A	2: 168,346,379 (GRCm39)	T905I	possibly damaging	Het
Nme6	G	A	9: 109,664,409 (GRCm39)	R6Q	probably damaging	Het
Nr1h5	A	G	3: 102,855,133 (GRCm39)	S323P	probably damaging	Het
Nr4a3	C	A	4: 48,056,539 (GRCm39)	R364S	probably damaging	Het
Obox7	A	T	7: 14,398,323 (GRCm39)	D79V	probably damaging	Het
Or1ab2	G	A	8: 72,863,698 (GRCm39)	G96D	probably benign	Het
Or2a51	T	A	6: 43,178,914 (GRCm39)	V112D	possibly damaging	Het
Or2l5	G	A	16: 19,333,586 (GRCm39)	P267S	probably damaging	Het
Pan2	T	C	10: 128,156,282 (GRCm39)	V1171A	probably damaging	Het
Parp8	T	A	13: 117,047,449 (GRCm39)	I208F	probably damaging	Het
Pdgfc	C	T	3: 81,116,552 (GRCm39)	T302I	probably damaging	Het
Pnpt1	A	G	11: 29,091,256 (GRCm39)	I337V	probably benign	Het
Polk	T	C	13: 96,625,736 (GRCm39)	E436G	probably damaging	Het
Pramel7	A	G	2: 87,321,465 (GRCm39)	V190A	probably benign	Het
Rplp2	T	C	7: 141,028,694 (GRCm39)		probably benign	Het
Sec23ip	T	A	7: 128,367,997 (GRCm39)	S670T	probably damaging	Het
Sgk2	A	G	2: 162,846,080 (GRCm39)	N207S	probably benign	Het
Sh2d2a	C	T	3: 87,759,123 (GRCm39)	Q242*	probably null	Het
Sh3pxd2b	A	C	11: 32,372,138 (GRCm39)	N435T	probably damaging	Het
Slc36a4	T	A	9: 15,645,506 (GRCm39)	V311D	probably damaging	Het
Stx17	G	A	4: 48,181,553 (GRCm39)	V241M	probably benign	Het
Taok3	A	T	5: 117,403,989 (GRCm39)	K721N	probably damaging	Het
Tbxas1	A	G	6: 38,925,575 (GRCm39)		probably benign	Het
Tmem87a	G	A	2: 120,204,985 (GRCm39)	A377V	probably benign	Het
Topaz1	C	T	9: 122,576,427 (GRCm39)	T6M	unknown	Het
Tspan8	A	G	10: 115,680,035 (GRCm39)	I217V	probably benign	Het
Vmn2r125	A	G	4: 156,707,162 (GRCm39)		probably null	Het
Vmn2r5	C	T	3: 64,411,642 (GRCm39)	E309K	probably damaging	Het
Wdr59	A	T	8: 112,185,270 (GRCm39)	C888S	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- GGAAGGTTTAGTATCCTGGCTCAG -3'
(R):5'- AGAAAATGGCCGGCTACCAG -3'

Sequencing Primer
(F):5'- CAGGTTGTCAGGTCCTTGCTTAC -3'
(R):5'- CGGCTACCAGCTCTCCAC -3'

Posted On

2014-08-25