Mutagenetix > Incidental Mutation

Incidental Mutation 'R4659:Gpsm1'

352649

Institutional Source

Beutler Lab

Gene Symbol

Gpsm1

Ensembl Gene

ENSMUSG00000026930

Gene Name

G-protein signalling modulator 1 (AGS3-like, C. elegans)

Synonyms

Ags3, 1810037C22Rik

MMRRC Submission

041919-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4659 (G1)

Quality Score

153

Status

Not validated

Chromosome

Chromosomal Location

26205527-26238249 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 26209843 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066889] [ENSMUST00000066936] [ENSMUST00000078616]

AlphaFold

Q6IR34

Predicted Effect

probably benign
Transcript: ENSMUST00000066889

SMART Domains

Protein: ENSMUSP00000067964
Gene: ENSMUSG00000026930

Domain	Start	End	E-Value	Type
low complexity region	28	43	N/A	INTRINSIC
TPR	98	131	1.45e-1	SMART
TPR	138	171	7.06e-5	SMART
TPR	238	271	5.96e-3	SMART
TPR	278	311	1.47e-2	SMART
TPR	318	351	5.19e-3	SMART
TPR	358	391	1.33e0	SMART
GoLoco	525	547	7.38e-9	SMART
low complexity region	548	560	N/A	INTRINSIC
GoLoco	578	600	4.24e-9	SMART
GoLoco	626	648	5.22e-9	SMART
GoLoco	660	682	3.58e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000066936

SMART Domains

Protein: ENSMUSP00000065000
Gene: ENSMUSG00000026930

Domain	Start	End	E-Value	Type
TPR	66	99	1.45e-1	SMART
TPR	106	139	7.06e-5	SMART
TPR	206	239	5.96e-3	SMART
TPR	246	279	1.47e-2	SMART
TPR	286	319	5.19e-3	SMART
TPR	326	359	1.33e0	SMART
GoLoco	493	515	7.38e-9	SMART
low complexity region	516	528	N/A	INTRINSIC
GoLoco	546	568	4.24e-9	SMART
GoLoco	594	616	5.22e-9	SMART
GoLoco	628	650	3.58e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000078616

SMART Domains

Protein: ENSMUSP00000077686
Gene: ENSMUSG00000026930

Domain	Start	End	E-Value	Type
TPR	66	99	1.45e-1	SMART
TPR	106	139	7.06e-5	SMART
TPR	206	239	5.96e-3	SMART
TPR	246	279	1.47e-2	SMART
TPR	286	319	5.19e-3	SMART
TPR	326	359	1.33e0	SMART
GoLoco	433	455	7.38e-9	SMART
low complexity region	456	468	N/A	INTRINSIC
GoLoco	486	508	4.24e-9	SMART
GoLoco	534	556	5.22e-9	SMART
GoLoco	568	590	3.58e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000145884

SMART Domains

Protein: ENSMUSP00000115680
Gene: ENSMUSG00000026930

Domain	Start	End	E-Value	Type
Blast:TPR	22	68	1e-9	BLAST
Pfam:TPR_1	82	107	2.3e-4	PFAM
Pfam:TPR_12	82	147	7.9e-12	PFAM
Pfam:TPR_7	84	119	1.4e-5	PFAM
Pfam:TPR_2	122	147	6.2e-4	PFAM
Pfam:TPR_8	123	146	1.4e-2	PFAM
Blast:TPR	150	183	4e-15	BLAST
GoLoco	317	339	7.38e-9	SMART
low complexity region	340	352	N/A	INTRINSIC
GoLoco	370	392	4.24e-9	SMART
GoLoco	418	440	5.22e-9	SMART
GoLoco	452	474	3.58e-7	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

96% (74/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] G-protein signaling modulators (GPSMs) play diverse functional roles through their interaction with G-protein subunits. This gene encodes a receptor-independent activator of G protein signaling, which is one of several factors that influence the basal activity of G-protein signaling systems. The protein contains seven tetratricopeptide repeats in its N-terminal half and four G-protein regulatory (GPR) motifs in its C-terminal half. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a lean phenotype, reduced fat mass, increased food consumption, increased nocturnal energy expenditure and altered blood pressure control mechanisms; surprisingly, their basal behavior and gross brain morphology remain normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	C	A	6: 142,618,321 (GRCm39)		probably null	Het
Ankrd22	C	T	19: 34,102,968 (GRCm39)	V118I	probably damaging	Het
Aoc1	A	T	6: 48,883,010 (GRCm39)	E295D	probably benign	Het
Arap2	T	C	5: 62,811,469 (GRCm39)	N1114S	possibly damaging	Het
AU021092	C	G	16: 5,030,011 (GRCm39)	A335P	probably damaging	Het
Carhsp1	T	C	16: 8,482,129 (GRCm39)	T51A	probably benign	Het
Cdc42bpb	T	C	12: 111,306,325 (GRCm39)	D152G	probably damaging	Het
Cep70	T	A	9: 99,178,394 (GRCm39)	D497E	possibly damaging	Het
Chrm5	T	C	2: 112,310,102 (GRCm39)	N338S	probably benign	Het
Cldn8	G	A	16: 88,359,296 (GRCm39)	H210Y	probably benign	Het
Clhc1	T	A	11: 29,528,229 (GRCm39)	*586K	probably null	Het
Cplane1	G	T	15: 8,245,760 (GRCm39)		probably benign	Het
Dop1a	T	A	9: 86,384,085 (GRCm39)		probably benign	Het
Dync1h1	T	C	12: 110,595,201 (GRCm39)	F1371S	possibly damaging	Het
Eif6	A	G	2: 155,668,101 (GRCm39)	I46T	probably damaging	Het
Esco2	G	A	14: 66,064,035 (GRCm39)	T383M	possibly damaging	Het
Exoc8	T	C	8: 125,624,271 (GRCm39)	D32G	probably damaging	Het
Fam149b	G	T	14: 20,417,941 (GRCm39)	S216I	probably benign	Het
Fam219a	T	C	4: 41,521,645 (GRCm39)	D87G	probably null	Het
Fbxw26	A	T	9: 109,573,939 (GRCm39)	V71D	probably damaging	Het
Gabra4	T	A	5: 71,798,487 (GRCm39)	K164M	probably damaging	Het
Gm57858	T	C	3: 36,080,103 (GRCm39)	D218G	possibly damaging	Het
Gm8603	G	A	17: 13,737,290 (GRCm39)		noncoding transcript	Het
Gnmt	A	G	17: 47,036,892 (GRCm39)	F239S	probably damaging	Het
Jam2	G	A	16: 84,609,840 (GRCm39)	V151M	probably damaging	Het
Kcnj1	A	T	9: 32,305,444 (GRCm39)	D2V	probably benign	Het
Limch1	C	T	5: 67,184,900 (GRCm39)	R797C	probably damaging	Het
Lrrc9	T	A	12: 72,517,038 (GRCm39)	F597I	probably damaging	Het
Lrriq3	T	A	3: 154,835,090 (GRCm39)	I275N	possibly damaging	Het
Mcoln1	T	A	8: 3,560,840 (GRCm39)	S387R	probably damaging	Het
Mgst3	T	A	1: 167,204,848 (GRCm39)	Q58L	probably damaging	Het
Mical1	G	A	10: 41,362,932 (GRCm39)		probably benign	Het
Mmp3	C	A	9: 7,453,673 (GRCm39)	D431E	probably benign	Het
Mx1	T	C	16: 97,256,439 (GRCm39)		probably null	Het
Myo7a	A	G	7: 97,734,673 (GRCm39)	L607P	probably damaging	Het
Myt1l	A	G	12: 29,899,456 (GRCm39)	N153D	probably damaging	Het
Nfu1	A	T	6: 86,996,408 (GRCm39)	T120S	probably damaging	Het
Nhlrc2	T	C	19: 56,564,699 (GRCm39)	V341A	possibly damaging	Het
Notch1	T	C	2: 26,360,901 (GRCm39)	E1148G	probably damaging	Het
Nqo1	C	T	8: 108,117,676 (GRCm39)		probably null	Het
Nwd1	T	A	8: 73,421,949 (GRCm39)	D998E	probably benign	Het
Or8k18	G	A	2: 86,085,357 (GRCm39)	Q227*	probably null	Het
Oxct2a	T	C	4: 123,216,473 (GRCm39)	I303V	probably benign	Het
Parp10	A	T	15: 76,127,185 (GRCm39)	D58E	probably damaging	Het
Pcdha6	T	A	18: 37,102,292 (GRCm39)	V495E	probably damaging	Het
Pitrm1	T	A	13: 6,603,218 (GRCm39)	S88R	probably benign	Het
Pxdn	T	C	12: 30,044,552 (GRCm39)	V510A	probably benign	Het
Ranbp17	T	A	11: 33,216,288 (GRCm39)	D820V	probably damaging	Het
Sec24c	G	T	14: 20,733,212 (GRCm39)	G180C	probably damaging	Het
Serpina3n	T	C	12: 104,379,752 (GRCm39)	S382P	probably benign	Het
Sestd1	A	T	2: 77,042,843 (GRCm39)	M237K	probably null	Het
Sf3a2	T	C	10: 80,639,418 (GRCm39)	I136T	probably damaging	Het
Sh3tc2	A	G	18: 62,107,580 (GRCm39)	Y197C	probably benign	Het
Speer4b	T	C	5: 27,702,893 (GRCm39)	K204E	probably benign	Het
Speer4f1	A	C	5: 17,681,221 (GRCm39)	E33A	possibly damaging	Het
Sspo	T	A	6: 48,461,147 (GRCm39)	D3529E	probably damaging	Het
Stard13	T	C	5: 150,986,253 (GRCm39)	D419G	probably benign	Het
Tg	A	G	15: 66,545,769 (GRCm39)	S164G	possibly damaging	Het
Thap12	A	G	7: 98,359,298 (GRCm39)		probably benign	Het
Thsd1	C	A	8: 22,749,314 (GRCm39)	Y667*	probably null	Het
Tnks	A	C	8: 35,316,465 (GRCm39)	Y885D	possibly damaging	Het
Ttll3	A	G	6: 113,391,102 (GRCm39)	I896V	probably benign	Het
Txnip	T	G	3: 96,466,743 (GRCm39)	F190C	probably damaging	Het
Urb1	T	C	16: 90,573,017 (GRCm39)	D1005G	probably damaging	Het
Usp3	T	C	9: 66,434,352 (GRCm39)		probably null	Het
Usp54	G	T	14: 20,615,060 (GRCm39)	Q794K	probably damaging	Het
Xrn2	A	G	2: 146,903,394 (GRCm39)	Q798R	probably benign	Het
Zfp189	A	G	4: 49,530,342 (GRCm39)	I482V	probably benign	Het
Zfp28	A	G	7: 6,396,506 (GRCm39)	N314D	probably benign	Het
Zmym4	A	G	4: 126,842,221 (GRCm39)		probably null	Het

Other mutations in Gpsm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01803:Gpsm1	APN	2	26,236,921 (GRCm39)	missense	probably damaging	1.00
IGL01826:Gpsm1	APN	2	26,216,314 (GRCm39)	missense	probably damaging	0.98
IGL02281:Gpsm1	APN	2	26,229,638 (GRCm39)	splice site	probably benign
IGL02730:Gpsm1	APN	2	26,215,390 (GRCm39)	missense	probably benign	0.13
IGL02740:Gpsm1	APN	2	26,230,585 (GRCm39)	missense	probably benign	0.43
IGL02749:Gpsm1	APN	2	26,229,687 (GRCm39)	missense	probably damaging	0.99
IGL02982:Gpsm1	APN	2	26,214,871 (GRCm39)	missense	probably damaging	1.00
R1271:Gpsm1	UTSW	2	26,234,684 (GRCm39)	missense	probably damaging	0.99
R1639:Gpsm1	UTSW	2	26,235,199 (GRCm39)	missense	probably damaging	1.00
R1766:Gpsm1	UTSW	2	26,215,395 (GRCm39)	missense	probably damaging	1.00
R1854:Gpsm1	UTSW	2	26,234,725 (GRCm39)	missense	probably damaging	1.00
R2900:Gpsm1	UTSW	2	26,235,174 (GRCm39)	missense	probably benign	0.00
R2994:Gpsm1	UTSW	2	26,209,843 (GRCm39)	unclassified	probably benign
R2995:Gpsm1	UTSW	2	26,209,843 (GRCm39)	unclassified	probably benign
R2996:Gpsm1	UTSW	2	26,209,843 (GRCm39)	unclassified	probably benign
R4227:Gpsm1	UTSW	2	26,229,638 (GRCm39)	splice site	probably benign
R4391:Gpsm1	UTSW	2	26,214,009 (GRCm39)	missense	probably damaging	1.00
R4413:Gpsm1	UTSW	2	26,209,843 (GRCm39)	unclassified	probably benign
R4461:Gpsm1	UTSW	2	26,209,843 (GRCm39)	unclassified	probably benign
R4469:Gpsm1	UTSW	2	26,209,843 (GRCm39)	unclassified	probably benign
R4786:Gpsm1	UTSW	2	26,212,493 (GRCm39)	missense	probably benign	0.01
R5025:Gpsm1	UTSW	2	26,210,008 (GRCm39)	missense	possibly damaging	0.90
R5057:Gpsm1	UTSW	2	26,215,369 (GRCm39)	missense	probably damaging	0.96
R5171:Gpsm1	UTSW	2	26,217,476 (GRCm39)	intron	probably benign
R5356:Gpsm1	UTSW	2	26,230,574 (GRCm39)	missense	possibly damaging	0.73
R5417:Gpsm1	UTSW	2	26,214,045 (GRCm39)	critical splice donor site	probably null
R5967:Gpsm1	UTSW	2	26,230,546 (GRCm39)	splice site	probably null
R6153:Gpsm1	UTSW	2	26,215,425 (GRCm39)	missense	probably benign	0.14
R6969:Gpsm1	UTSW	2	26,230,555 (GRCm39)	missense	probably benign	0.01
R7006:Gpsm1	UTSW	2	26,212,572 (GRCm39)	missense	probably damaging	1.00
R7819:Gpsm1	UTSW	2	26,229,705 (GRCm39)	missense	probably damaging	0.98
R7867:Gpsm1	UTSW	2	26,230,448 (GRCm39)	missense	probably benign	0.38
R8194:Gpsm1	UTSW	2	26,217,364 (GRCm39)	frame shift	probably null
R8195:Gpsm1	UTSW	2	26,214,929 (GRCm39)	splice site	probably null
R8857:Gpsm1	UTSW	2	26,230,457 (GRCm39)	missense	possibly damaging	0.47
R9267:Gpsm1	UTSW	2	26,236,835 (GRCm39)	missense	probably damaging	1.00
R9281:Gpsm1	UTSW	2	26,214,488 (GRCm39)	missense	probably damaging	0.99
RF017:Gpsm1	UTSW	2	26,214,884 (GRCm39)	missense	probably damaging	1.00
Z1176:Gpsm1	UTSW	2	26,217,357 (GRCm39)	missense	possibly damaging	0.69

Predicted Primers

Posted On

2015-10-08