Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03146:Rgs6'

410913

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rgs6

Ensembl Gene

ENSMUSG00000021219

Gene Name

regulator of G-protein signaling 6

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

IGL03146

Quality Score

Status

Chromosome

Chromosomal Location

82663325-83208835 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83099312 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 130 (D130V)

Ref Sequence

ENSEMBL: ENSMUSP00000139718 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101234] [ENSMUST00000161801] [ENSMUST00000185665] [ENSMUST00000185674] [ENSMUST00000186081] [ENSMUST00000186309] [ENSMUST00000186323] [ENSMUST00000186458] [ENSMUST00000202210] [ENSMUST00000200911] [ENSMUST00000186848] [ENSMUST00000191107] [ENSMUST00000191352] [ENSMUST00000201271] [ENSMUST00000191311] [ENSMUST00000201602] [ENSMUST00000201861] [ENSMUST00000200861]

AlphaFold

Q9Z2H2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000101234
AA Change: D130V

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000098793
Gene: ENSMUSG00000021219
AA Change: D130V

Domain	Start	End	E-Value	Type
DEP	40	115	3.28e-24	SMART
G_gamma	255	319	2.23e-23	SMART
GGL	258	319	1.38e-27	SMART
RGS	336	451	2.05e-47	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000161801
AA Change: D130V

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

SMART Domains

Protein: ENSMUSP00000125256
Gene: ENSMUSG00000021219
AA Change: D130V

Domain	Start	End	E-Value	Type
DEP	40	115	3.28e-24	SMART
G_gamma	255	319	2.23e-23	SMART
GGL	258	319	1.38e-27	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000185665
AA Change: D130V

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000139566
Gene: ENSMUSG00000021219
AA Change: D130V

Domain	Start	End	E-Value	Type
DEP	40	115	1.5e-26	SMART
G_gamma	255	319	1e-27	SMART
GGL	258	319	8.7e-30	SMART
RGS	336	451	7.5e-50	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000185674
AA Change: D130V

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

SMART Domains

Protein: ENSMUSP00000139940
Gene: ENSMUSG00000021219
AA Change: D130V

Domain	Start	End	E-Value	Type
DEP	40	115	1.5e-26	SMART
RGS	299	414	7.5e-50	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000186081
AA Change: D130V

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140188
Gene: ENSMUSG00000021219
AA Change: D130V

Domain	Start	End	E-Value	Type
DEP	40	115	1.5e-26	SMART
RGS	299	414	7.5e-50	SMART
low complexity region	417	425	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000186309
AA Change: D130V

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140701
Gene: ENSMUSG00000021219
AA Change: D130V

Domain	Start	End	E-Value	Type
DEP	40	115	1.5e-26	SMART
G_gamma	255	319	1e-27	SMART
GGL	258	319	8.7e-30	SMART
RGS	336	451	7.5e-50	SMART
low complexity region	494	499	N/A	INTRINSIC
low complexity region	511	523	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000186323
AA Change: D130V

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

SMART Domains

Protein: ENSMUSP00000141079
Gene: ENSMUSG00000021219
AA Change: D130V

Domain	Start	End	E-Value	Type
DEP	40	115	1.5e-26	SMART
RGS	299	414	7.5e-50	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000186458
AA Change: D130V

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000139735
Gene: ENSMUSG00000021219
AA Change: D130V

Domain	Start	End	E-Value	Type
DEP	40	115	3.28e-24	SMART
G_gamma	255	319	2.23e-23	SMART
GGL	258	319	1.38e-27	SMART
RGS	336	451	2.05e-47	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000202210
AA Change: D130V

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143961
Gene: ENSMUSG00000021219
AA Change: D130V

Domain	Start	End	E-Value	Type
DEP	40	115	3.28e-24	SMART
G_gamma	255	319	2.23e-23	SMART
GGL	258	319	1.38e-27	SMART
RGS	336	451	2.05e-47	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000200911
AA Change: D130V

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143801
Gene: ENSMUSG00000021219
AA Change: D130V

Domain	Start	End	E-Value	Type
DEP	40	115	3.28e-24	SMART
G_gamma	255	319	2.23e-23	SMART
GGL	258	319	1.38e-27	SMART
RGS	336	451	2.05e-47	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000186848
AA Change: D95V

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000141044
Gene: ENSMUSG00000021219
AA Change: D95V

Domain	Start	End	E-Value	Type
DEP	5	80	1.6e-26	SMART
G_gamma	220	284	1.1e-27	SMART
GGL	223	284	8.8e-30	SMART
RGS	301	416	7.6e-50	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000191107
AA Change: D130V

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

SMART Domains

Protein: ENSMUSP00000139725
Gene: ENSMUSG00000021219
AA Change: D130V

Domain	Start	End	E-Value	Type
DEP	40	115	1.5e-26	SMART
G_gamma	255	319	1e-27	SMART
GGL	258	319	8.7e-30	SMART
RGS	336	451	7.5e-50	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000191352
AA Change: D130V

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

SMART Domains

Protein: ENSMUSP00000139718
Gene: ENSMUSG00000021219
AA Change: D130V

Domain	Start	End	E-Value	Type
DEP	40	115	1.5e-26	SMART
G_gamma	255	319	1e-27	SMART
GGL	258	319	8.7e-30	SMART
RGS	336	451	7.5e-50	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000201271
AA Change: D130V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000144139
Gene: ENSMUSG00000021219
AA Change: D130V

Domain	Start	End	E-Value	Type
DEP	40	115	1.6e-26	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000191311
AA Change: D130V

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

SMART Domains

Protein: ENSMUSP00000140723
Gene: ENSMUSG00000021219
AA Change: D130V

Domain	Start	End	E-Value	Type
DEP	40	115	1.5e-26	SMART
G_gamma	255	319	1e-27	SMART
GGL	258	319	8.7e-30	SMART
RGS	336	451	7.5e-50	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190964

Predicted Effect

probably benign
Transcript: ENSMUST00000201602

SMART Domains

Protein: ENSMUSP00000144044
Gene: ENSMUSG00000021219

Domain	Start	End	E-Value	Type
Pfam:DEP	43	73	1.1e-5	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201861

SMART Domains

Protein: ENSMUSP00000144395
Gene: ENSMUSG00000021219

Domain	Start	End	E-Value	Type
Pfam:DEP	43	88	5.2e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000200861

SMART Domains

Protein: ENSMUSP00000144118
Gene: ENSMUSG00000021219

Domain	Start	End	E-Value	Type
DEP	40	109	3.2e-18	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the RGS (regulator of G protein signaling) family of proteins, which are defined by the presence of a RGS domain that confers the GTPase-activating activity of these proteins toward certain G alpha subunits. This protein also belongs to a subfamily of RGS proteins characterized by the presence of DEP (Dishevelled, Egl-10, and Pleckstrin) and GGL (G-protein gamma like)domains, the latter a G beta 5-interacting domain. The RGS proteins negatively regulate G protein signaling, and may modulate neuronal, cardiovascular, lymphocytic activities, and cancer risk. Mice lacking this gene exhibit decreased heart rate. Alternative splicing results in multiple transcript variants, however, the full-length nature of some of these variants is not known. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased heart rate and abnormal impulse conducting system conduction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	T	C	8: 25,294,519 (GRCm39)	D360G	probably damaging	Het
Adam6a	A	T	12: 113,509,144 (GRCm39)	T506S	probably damaging	Het
Adamts15	A	G	9: 30,832,863 (GRCm39)	V224A	probably damaging	Het
Arhgef12	G	T	9: 42,885,866 (GRCm39)	D1251E	possibly damaging	Het
Ccdc180	G	T	4: 45,903,840 (GRCm39)		probably benign	Het
Ccdc85c	G	A	12: 108,173,395 (GRCm39)	R387*	probably null	Het
Cfap57	T	A	4: 118,456,216 (GRCm39)	I493F	probably damaging	Het
Chst9	A	G	18: 15,586,035 (GRCm39)	I176T	probably damaging	Het
Clpx	G	T	9: 65,234,112 (GRCm39)	V572L	probably benign	Het
Csmd3	T	A	15: 47,744,873 (GRCm39)	N1374I	probably benign	Het
Cyp2e1	T	A	7: 140,350,134 (GRCm39)	M273K	probably benign	Het
Ehbp1l1	T	C	19: 5,770,061 (GRCm39)	E414G	probably benign	Het
Ehd1	T	C	19: 6,327,368 (GRCm39)	F122L	probably damaging	Het
Fcho1	A	G	8: 72,170,074 (GRCm39)		probably benign	Het
Fermt3	T	C	19: 6,980,631 (GRCm39)	E312G	possibly damaging	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
G3bp2	G	A	5: 92,214,399 (GRCm39)	R132C	probably damaging	Het
Inpp4b	A	T	8: 82,470,410 (GRCm39)	I35F	possibly damaging	Het
Izumo3	T	G	4: 92,033,276 (GRCm39)	I107L	probably damaging	Het
Lama3	C	A	18: 12,660,681 (GRCm39)	Q484K	possibly damaging	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Mapkbp1	T	C	2: 119,828,955 (GRCm39)		probably benign	Het
Mast4	T	C	13: 102,874,163 (GRCm39)	N1735S	probably benign	Het
Or14a257	T	C	7: 86,138,402 (GRCm39)	D119G	probably damaging	Het
Or4c100	T	A	2: 88,356,488 (GRCm39)	M187K	possibly damaging	Het
Oxct1	T	C	15: 4,130,630 (GRCm39)	L374P	probably damaging	Het
Parp14	G	A	16: 35,678,823 (GRCm39)	Q382*	probably null	Het
Pax2	A	G	19: 44,821,714 (GRCm39)		probably benign	Het
Prkaa1	T	C	15: 5,198,122 (GRCm39)	V146A	probably damaging	Het
Ptprb	C	T	10: 116,164,032 (GRCm39)	A900V	probably benign	Het
Ryr1	C	A	7: 28,793,457 (GRCm39)	R1344L	probably benign	Het
Scgb1b12	C	A	7: 32,033,969 (GRCm39)	D76E	possibly damaging	Het
Sel1l3	T	A	5: 53,311,585 (GRCm39)	E633D	probably benign	Het
Slc1a7	T	A	4: 107,850,189 (GRCm39)	I100N	probably damaging	Het
Slc25a35	A	G	11: 68,859,678 (GRCm39)	K64E	possibly damaging	Het
Spmip4	A	T	6: 50,550,853 (GRCm39)	V532E	probably damaging	Het
Stil	C	A	4: 114,881,612 (GRCm39)	Q719K	probably damaging	Het
Stim1	T	A	7: 102,070,562 (GRCm39)	L265Q	probably damaging	Het
Tmem191	A	G	16: 17,095,246 (GRCm39)	E169G	probably damaging	Het
Tmem255b	T	C	8: 13,504,174 (GRCm39)	L101P	probably damaging	Het
Trgv3	C	A	13: 19,427,337 (GRCm39)	Y73*	probably null	Het
Zfyve26	G	A	12: 79,330,846 (GRCm39)	Q458*	probably null	Het

Other mutations in Rgs6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Rgs6	APN	12	83,098,097 (GRCm39)	missense	probably benign	0.01
IGL02131:Rgs6	APN	12	83,116,269 (GRCm39)	missense	probably damaging	1.00
IGL02354:Rgs6	APN	12	82,665,393 (GRCm39)	intron	probably benign
IGL02361:Rgs6	APN	12	82,665,393 (GRCm39)	intron	probably benign
IGL02568:Rgs6	APN	12	83,117,376 (GRCm39)	missense	probably benign	0.25
IGL02598:Rgs6	APN	12	83,138,571 (GRCm39)	missense	probably benign	0.02
IGL03248:Rgs6	APN	12	83,099,324 (GRCm39)	splice site	probably benign
IGL03098:Rgs6	UTSW	12	83,032,150 (GRCm39)	missense	probably damaging	1.00
IGL03147:Rgs6	UTSW	12	83,138,620 (GRCm39)	missense	probably damaging	0.99
PIT4453001:Rgs6	UTSW	12	83,138,553 (GRCm39)	missense	probably damaging	1.00
R0270:Rgs6	UTSW	12	83,180,463 (GRCm39)	missense	probably damaging	1.00
R0390:Rgs6	UTSW	12	83,180,451 (GRCm39)	missense	probably damaging	1.00
R0540:Rgs6	UTSW	12	83,106,578 (GRCm39)	nonsense	probably null
R0630:Rgs6	UTSW	12	83,094,324 (GRCm39)	splice site	probably benign
R1479:Rgs6	UTSW	12	83,163,018 (GRCm39)	missense	probably damaging	1.00
R1533:Rgs6	UTSW	12	83,138,547 (GRCm39)	missense	probably benign	0.00
R1545:Rgs6	UTSW	12	83,162,951 (GRCm39)	missense	probably damaging	0.99
R2161:Rgs6	UTSW	12	83,138,578 (GRCm39)	missense	probably damaging	1.00
R2421:Rgs6	UTSW	12	83,163,057 (GRCm39)	missense	possibly damaging	0.93
R4089:Rgs6	UTSW	12	83,110,261 (GRCm39)	missense	probably damaging	1.00
R4573:Rgs6	UTSW	12	83,112,789 (GRCm39)	missense	probably damaging	1.00
R4821:Rgs6	UTSW	12	83,114,185 (GRCm39)	critical splice acceptor site	probably null
R6228:Rgs6	UTSW	12	83,112,738 (GRCm39)	missense	probably damaging	0.99
R7023:Rgs6	UTSW	12	83,138,878 (GRCm39)	intron	probably benign
R7585:Rgs6	UTSW	12	83,153,644 (GRCm39)	missense	probably damaging	1.00
R7610:Rgs6	UTSW	12	83,138,553 (GRCm39)	missense	probably damaging	1.00
R7798:Rgs6	UTSW	12	83,116,293 (GRCm39)	missense	probably benign	0.02
R8003:Rgs6	UTSW	12	83,032,144 (GRCm39)	missense	probably damaging	0.99
R8011:Rgs6	UTSW	12	83,163,066 (GRCm39)	missense	probably null	0.32
R8081:Rgs6	UTSW	12	83,094,347 (GRCm39)	nonsense	probably null
R8248:Rgs6	UTSW	12	83,184,478 (GRCm39)	intron	probably benign
R8267:Rgs6	UTSW	12	82,698,669 (GRCm39)	missense	probably benign
R8285:Rgs6	UTSW	12	83,162,949 (GRCm39)	missense	probably benign	0.14
R8932:Rgs6	UTSW	12	83,112,733 (GRCm39)	missense	probably damaging	1.00
R9398:Rgs6	UTSW	12	82,698,615 (GRCm39)	missense	probably benign	0.09
R9415:Rgs6	UTSW	12	83,184,166 (GRCm39)	missense	probably benign	0.06
RF008:Rgs6	UTSW	12	83,110,223 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02