Mutagenetix > Incidental Mutation

Incidental Mutation 'R8191:Gpsm3'

635190

Institutional Source

Beutler Lab

Gene Symbol

Gpsm3

Ensembl Gene

ENSMUSG00000034786

Gene Name

G-protein signalling modulator 3 (AGS3-like, C. elegans)

Synonyms

AGS4

MMRRC Submission

067614-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8191 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34808780-34810728 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34809451 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 19 (D19V)

Ref Sequence

ENSEMBL: ENSMUSP00000045911 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015612] [ENSMUST00000038149] [ENSMUST00000038244] [ENSMUST00000150924] [ENSMUST00000173328] [ENSMUST00000173389] [ENSMUST00000173772] [ENSMUST00000174532] [ENSMUST00000183827]

AlphaFold

Q3U1Z5

Predicted Effect

probably benign
Transcript: ENSMUST00000015612

SMART Domains

Protein: ENSMUSP00000015612
Gene: ENSMUSG00000015468

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
EGF	24	60	3.2e-4	SMART
EGF	64	112	1.07e-5	SMART
EGF	118	152	5.49e-3	SMART
EGF	156	189	9.33e-6	SMART
EGF_CA	191	229	1.42e-10	SMART
EGF	234	271	1.11e-3	SMART
EGF	276	309	1.84e-4	SMART
EGF_CA	311	350	2.52e-11	SMART
EGF_CA	352	388	1.85e-9	SMART
EGF	392	427	1.58e-3	SMART
EGF_CA	429	470	2.46e-14	SMART
EGF_CA	472	508	5.03e-11	SMART
EGF_CA	510	546	6.74e-12	SMART
EGF_CA	548	584	2.98e-13	SMART
EGF_CA	586	622	7.63e-11	SMART
EGF_like	645	686	2.86e1	SMART
EGF	691	724	3.48e-5	SMART
EGF	729	762	3.62e-3	SMART
EGF_CA	764	800	1.48e-8	SMART
EGF	806	839	1.74e-5	SMART
EGF	844	877	2.3e-5	SMART
EGF	881	924	3.59e-7	SMART
EGF_CA	926	962	7.29e-8	SMART
EGF_CA	965	1000	4.42e-7	SMART
EGF_CA	1002	1040	4.56e-9	SMART
EGF	1045	1081	6.16e-6	SMART
EGF	1086	1122	8.65e-1	SMART
EGF	1129	1167	1.45e-2	SMART
NL	1159	1200	6.79e-13	SMART
NL	1203	1242	2.01e-15	SMART
NL	1243	1281	1.85e-14	SMART
NOD	1287	1341	4.37e-8	SMART
NODP	1373	1437	2.12e-6	SMART
transmembrane domain	1441	1463	N/A	INTRINSIC
low complexity region	1525	1539	N/A	INTRINSIC
ANK	1578	1623	2.5e3	SMART
ANK	1628	1657	1.12e-3	SMART
ANK	1661	1691	5.01e-1	SMART
ANK	1695	1724	1.65e-1	SMART
ANK	1728	1757	4.56e-4	SMART
ANK	1761	1790	2.88e-1	SMART
low complexity region	1889	1906	N/A	INTRINSIC
low complexity region	1925	1937	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000038149

SMART Domains

Protein: ENSMUSP00000040464
Gene: ENSMUSG00000034673

Domain	Start	End	E-Value	Type
low complexity region	7	49	N/A	INTRINSIC
Pfam:PBC	50	243	1.3e-97	PFAM
HOX	244	309	1.9e-18	SMART
low complexity region	327	353	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000038244
AA Change: D19V

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000045911
Gene: ENSMUSG00000034786
AA Change: D19V

Domain	Start	End	E-Value	Type
low complexity region	29	42	N/A	INTRINSIC
GoLoco	61	83	2.02e-6	SMART
low complexity region	86	100	N/A	INTRINSIC
GoLoco	103	125	2.42e-4	SMART
GoLoco	131	154	4.05e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000150924
AA Change: D19V

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000151654

Predicted Effect

probably benign
Transcript: ENSMUST00000151867

Predicted Effect

probably benign
Transcript: ENSMUST00000173328

SMART Domains

Protein: ENSMUSP00000133766
Gene: ENSMUSG00000034673

Domain	Start	End	E-Value	Type
Pfam:PBC	1	161	5e-84	PFAM
HOX	162	227	1.9e-18	SMART
low complexity region	245	271	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173389

SMART Domains

Protein: ENSMUSP00000133574
Gene: ENSMUSG00000015468

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
EGF	28	64	3.2e-4	SMART
EGF	68	116	1.07e-5	SMART
EGF	122	156	5.49e-3	SMART
EGF	160	193	9.33e-6	SMART
EGF_CA	195	233	1.42e-10	SMART
EGF	238	275	1.11e-3	SMART
EGF	280	313	1.84e-4	SMART
EGF_CA	315	354	2.52e-11	SMART
EGF_CA	356	392	1.85e-9	SMART
EGF	396	431	1.58e-3	SMART
EGF_CA	433	474	2.46e-14	SMART
EGF_CA	476	512	5.03e-11	SMART
EGF_CA	514	550	6.74e-12	SMART
EGF_CA	552	588	2.98e-13	SMART
EGF_CA	590	626	7.63e-11	SMART
EGF_like	649	690	2.86e1	SMART
EGF	695	728	3.48e-5	SMART
EGF	733	766	3.62e-3	SMART
EGF_CA	768	804	1.48e-8	SMART
EGF	810	843	1.74e-5	SMART
EGF	848	881	2.3e-5	SMART
EGF	885	928	3.59e-7	SMART
EGF_like	930	955	7.02e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173772

SMART Domains

Protein: ENSMUSP00000134130
Gene: ENSMUSG00000034786

Domain	Start	End	E-Value	Type
GoLoco	27	50	4.05e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174532

SMART Domains

Protein: ENSMUSP00000133744
Gene: ENSMUSG00000034673

Domain	Start	End	E-Value	Type
Pfam:PBC	1	148	3.5e-74	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000183827

SMART Domains

Protein: ENSMUSP00000139079
Gene: ENSMUSG00000034673

Domain	Start	End	E-Value	Type
Pfam:PBC	1	183	9.5e-98	PFAM
HOX	184	249	1.9e-18	SMART
low complexity region	267	293	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trapped allele exhibit a reduction in the number, viability, and chemotactic function of monocytes and show decreased susceptibility to collagen antibody-induced arthritis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700037C18Rik	G	A	16: 3,724,918 (GRCm39)	R49W	probably damaging	Het
Adamts4	T	C	1: 171,080,292 (GRCm39)	S282P		Het
Aqp4	A	G	18: 15,531,222 (GRCm39)	S180P	probably benign	Het
Armc2	T	G	10: 41,839,747 (GRCm39)	E406A	probably benign	Het
Atp13a3	A	T	16: 30,168,598 (GRCm39)	Y464N	probably damaging	Het
B3gnt3	C	A	8: 72,146,122 (GRCm39)	V136L	probably benign	Het
Cacna1s	C	T	1: 136,035,893 (GRCm39)	H1378Y	probably damaging	Het
Ccnk	A	T	12: 108,159,933 (GRCm39)	E138D	probably benign	Het
Cenpe	A	G	3: 134,957,375 (GRCm39)	K1878E	probably benign	Het
Cep57l1	T	A	10: 41,616,955 (GRCm39)	I111L	probably damaging	Het
Cfap298	G	T	16: 90,727,889 (GRCm39)	N100K	probably damaging	Het
Copg2	T	C	6: 30,790,665 (GRCm39)	I509V	probably benign	Het
Cux2	T	A	5: 122,012,217 (GRCm39)	D406V	probably benign	Het
Cyp2a12	G	T	7: 26,730,529 (GRCm39)	A165S	probably benign	Het
Dnaaf5	T	G	5: 139,167,250 (GRCm39)	S719A	probably benign	Het
Dnah7c	A	G	1: 46,646,618 (GRCm39)	I1220V	possibly damaging	Het
Dnai3	G	T	3: 145,800,066 (GRCm39)	P158H	probably damaging	Het
Dnajb8	C	T	6: 88,199,940 (GRCm39)	R159C	possibly damaging	Het
Dusp10	T	A	1: 183,769,749 (GRCm39)	D238E	possibly damaging	Het
Dync1li1	C	A	9: 114,538,253 (GRCm39)	D203E	probably benign	Het
Ecpas	A	T	4: 58,872,587 (GRCm39)		probably null	Het
Eif5b	T	C	1: 38,075,283 (GRCm39)	S587P	probably damaging	Het
Ephb2	G	A	4: 136,386,256 (GRCm39)	T832I	probably damaging	Het
Exoc1	T	A	5: 76,707,674 (GRCm39)		probably null	Het
Fam193a	T	A	5: 34,597,917 (GRCm39)	N571K	probably damaging	Het
Fem1a	T	A	17: 56,565,356 (GRCm39)	I483N	probably damaging	Het
Fgf20	C	A	8: 40,761,361 (GRCm39)		probably benign	Het
Fkbp1a	C	T	2: 151,399,356 (GRCm39)	P98S		Het
Ido2	C	A	8: 25,023,696 (GRCm39)	G381W	probably damaging	Het
Ifi204	T	C	1: 173,579,226 (GRCm39)	T540A	possibly damaging	Het
Isl1	A	T	13: 116,441,954 (GRCm39)	M93K	probably benign	Het
Map3k10	T	A	7: 27,362,671 (GRCm39)	S472C	probably damaging	Het
Mcrs1	A	T	15: 99,141,206 (GRCm39)	V432E	probably damaging	Het
Metap2	A	G	10: 93,701,267 (GRCm39)		probably null	Het
Muc5b	A	G	7: 141,421,421 (GRCm39)	S4304G	probably benign	Het
Myef2l	G	T	3: 10,153,914 (GRCm39)	V228F	probably damaging	Het
Nell1	T	C	7: 50,098,622 (GRCm39)	V308A	unknown	Het
Or10g1b	A	G	14: 52,627,987 (GRCm39)	V81A	probably benign	Het
Or4d5	A	T	9: 40,012,767 (GRCm39)	H6Q	probably benign	Het
Plxna4	C	A	6: 32,493,885 (GRCm39)	V244F	possibly damaging	Het
Pnpla6	T	C	8: 3,592,382 (GRCm39)	S1224P	probably benign	Het
Ripk4	A	G	16: 97,564,726 (GRCm39)		probably benign	Het
Rnpep	T	C	1: 135,200,172 (GRCm39)	E261G	possibly damaging	Het
Robo1	C	A	16: 72,730,142 (GRCm39)	S194R	probably damaging	Het
Rpusd1	C	G	17: 25,947,611 (GRCm39)	Y99*	probably null	Het
Scarf1	T	C	11: 75,413,065 (GRCm39)	M437T	probably benign	Het
Sh3tc2	G	T	18: 62,106,429 (GRCm39)	D153Y	probably damaging	Het
Siglec1	T	C	2: 130,927,599 (GRCm39)	Y69C	probably damaging	Het
Slc25a34	T	C	4: 141,347,895 (GRCm39)	Y262C	probably damaging	Het
Srrm2	T	A	17: 24,039,219 (GRCm39)	N1954K	probably damaging	Het
St6galnac2	T	C	11: 116,572,748 (GRCm39)	Y236C	probably damaging	Het
Stac3	T	A	10: 127,344,068 (GRCm39)	I322N	probably damaging	Het
Tcaf1	T	C	6: 42,652,190 (GRCm39)	Q764R	probably damaging	Het
Tcf20	G	A	15: 82,737,606 (GRCm39)	R1282*	probably null	Het
Tlr2	T	A	3: 83,743,821 (GRCm39)	K754M	probably damaging	Het
Tlr2	T	G	3: 83,743,822 (GRCm39)	K754Q	probably damaging	Het
Tnn	C	T	1: 159,953,088 (GRCm39)	V651M	probably damaging	Het
Ttn	T	C	2: 76,701,083 (GRCm39)	H9622R	unknown	Het
Tubgcp6	C	T	15: 89,004,843 (GRCm39)	G259S	probably damaging	Het
Ubr5	C	A	15: 38,006,751 (GRCm39)	C1174F		Het
Ugt2b35	T	A	5: 87,149,302 (GRCm39)	S184R	probably damaging	Het
Vit	C	T	17: 78,853,828 (GRCm39)	H25Y	probably benign	Het
Vmn1r177	G	A	7: 23,565,736 (GRCm39)	Q47*	probably null	Het
Vmn2r104	A	T	17: 20,250,465 (GRCm39)	V602D	possibly damaging	Het
Vmn2r115	A	G	17: 23,578,530 (GRCm39)	T668A	probably damaging	Het
Vmn2r125	T	G	4: 156,703,709 (GRCm39)	C362W	probably damaging	Het
Vwa7	A	G	17: 35,238,712 (GRCm39)	T267A	probably damaging	Het
Xpa	C	A	4: 46,183,225 (GRCm39)	R188L	possibly damaging	Het
Zfp143	C	T	7: 109,676,364 (GRCm39)	T249I	probably damaging	Het
Zfp607a	A	G	7: 27,578,868 (GRCm39)	E646G	possibly damaging	Het
Zfp729a	A	T	13: 67,769,838 (GRCm39)	S130R	probably benign	Het
Zswim3	C	A	2: 164,662,128 (GRCm39)	Q203K	probably damaging	Het

Other mutations in Gpsm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00693:Gpsm3	APN	17	34,810,247 (GRCm39)	missense	probably damaging	1.00
R1783:Gpsm3	UTSW	17	34,809,728 (GRCm39)	missense	possibly damaging	0.94
R2475:Gpsm3	UTSW	17	34,809,534 (GRCm39)	missense	possibly damaging	0.94
R6841:Gpsm3	UTSW	17	34,809,536 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- GACATGTGGGACCTAGTGAC -3'
(R):5'- CCAGAGGCTATGGCAGAATG -3'

Sequencing Primer
(F):5'- ACCTAGTGACGGGTGGACAC -3'
(R):5'- TGGACGAGCTAGGGACC -3'

Posted On

2020-07-13