Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01583:Rgs19'

91418

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rgs19

Ensembl Gene

ENSMUSG00000002458

Gene Name

regulator of G-protein signaling 19

Synonyms

2610042F04Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01583

Quality Score

Status

Chromosome

Chromosomal Location

181330212-181335770 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 181331246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 129 (E129G)

Ref Sequence

ENSEMBL: ENSMUSP00000129026 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002532] [ENSMUST00000103042] [ENSMUST00000108769] [ENSMUST00000108771] [ENSMUST00000108772] [ENSMUST00000108776] [ENSMUST00000108778] [ENSMUST00000165416] [ENSMUST00000129745] [ENSMUST00000108779]

AlphaFold

Q9CX84

Predicted Effect

probably damaging
Transcript: ENSMUST00000002532
AA Change: E129G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000002532
Gene: ENSMUSG00000002458
AA Change: E129G

Domain	Start	End	E-Value	Type
low complexity region	39	51	N/A	INTRINSIC
RGS	90	206	2.73e-43	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000103042

SMART Domains

Protein: ENSMUSP00000099331
Gene: ENSMUSG00000059540

Domain	Start	End	E-Value	Type
TFS2N	7	81	2.51e-25	SMART
low complexity region	114	129	N/A	INTRINSIC
TFS2M	136	237	4.14e-51	SMART
ZnF_C2C2	259	298	7.37e-18	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000108769
AA Change: E129G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104400
Gene: ENSMUSG00000002458
AA Change: E129G

Domain	Start	End	E-Value	Type
low complexity region	39	51	N/A	INTRINSIC
Pfam:RGS	90	160	4.2e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000108771
AA Change: E107G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104402
Gene: ENSMUSG00000002458
AA Change: E107G

Domain	Start	End	E-Value	Type
low complexity region	17	29	N/A	INTRINSIC
RGS	68	184	2.73e-43	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000108772
AA Change: E107G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104403
Gene: ENSMUSG00000002458
AA Change: E107G

Domain	Start	End	E-Value	Type
low complexity region	17	29	N/A	INTRINSIC
RGS	68	184	2.73e-43	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000108776
AA Change: E129G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104406
Gene: ENSMUSG00000002458
AA Change: E129G

Domain	Start	End	E-Value	Type
low complexity region	39	51	N/A	INTRINSIC
RGS	90	206	2.73e-43	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000108778
AA Change: E156G

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

SMART Domains

Protein: ENSMUSP00000104408
Gene: ENSMUSG00000002458
AA Change: E156G

Domain	Start	End	E-Value	Type
low complexity region	66	78	N/A	INTRINSIC
RGS	117	233	2.73e-43	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000165416
AA Change: E129G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129026
Gene: ENSMUSG00000002458
AA Change: E129G

Domain	Start	End	E-Value	Type
low complexity region	39	51	N/A	INTRINSIC
RGS	90	206	2.73e-43	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000144476
AA Change: E16G

SMART Domains

Protein: ENSMUSP00000120723
Gene: ENSMUSG00000002458
AA Change: E16G

Domain	Start	End	E-Value	Type
Pfam:RGS	1	49	3e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129686

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136145

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126623

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125892

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124776

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126844

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130712

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143510

Predicted Effect

probably benign
Transcript: ENSMUST00000129745

SMART Domains

Protein: ENSMUSP00000119646
Gene: ENSMUSG00000059540

Domain	Start	End	E-Value	Type
Pfam:Med26	21	73	2.1e-20	PFAM
low complexity region	107	122	N/A	INTRINSIC
TFS2M	129	230	4.14e-51	SMART
ZnF_C2C2	252	291	7.37e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129006

SMART Domains

Protein: ENSMUSP00000120083
Gene: ENSMUSG00000059540

Domain	Start	End	E-Value	Type
Pfam:Med26	27	77	5.1e-17	PFAM
low complexity region	112	127	N/A	INTRINSIC
TFS2M	134	235	4.14e-51	SMART
ZnF_C2C2	257	296	7.37e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108779

SMART Domains

Protein: ENSMUSP00000104409
Gene: ENSMUSG00000002458

Domain	Start	End	E-Value	Type
low complexity region	39	51	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] G proteins mediate a number of cellular processes. The protein encoded by this gene belongs to the RGS (regulators of G-protein signaling) family and specifically interacts with G protein, GAI3. This protein is a guanosine triphosphatase-activating protein that functions to down-regulate Galpha i/Galpha q-linked signaling. Alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,126,753 (GRCm39)	M329K	possibly damaging	Het
Abce1	G	A	8: 80,420,076 (GRCm39)	T300M	probably damaging	Het
Acap1	G	A	11: 69,772,503 (GRCm39)	S536L	probably damaging	Het
Adcy5	C	A	16: 35,103,883 (GRCm39)		probably benign	Het
Ap2b1	G	T	11: 83,215,437 (GRCm39)	R127L	possibly damaging	Het
Asxl3	T	G	18: 22,649,654 (GRCm39)	S548A	probably benign	Het
Atm	G	A	9: 53,395,547 (GRCm39)		probably benign	Het
Cep250	T	C	2: 155,818,069 (GRCm39)	V807A	probably damaging	Het
Ces1g	T	A	8: 94,033,587 (GRCm39)	Y445F	probably damaging	Het
Cnksr3	A	G	10: 7,070,512 (GRCm39)	Y241H	probably benign	Het
Col9a1	T	C	1: 24,224,225 (GRCm39)	S136P	unknown	Het
Cux2	C	A	5: 122,012,170 (GRCm39)	G422W	probably damaging	Het
Cyp1a2	A	T	9: 57,589,655 (GRCm39)	M53K	probably benign	Het
Ddx20	T	C	3: 105,593,986 (GRCm39)	D123G	probably damaging	Het
Dock4	T	A	12: 40,860,466 (GRCm39)	L1284*	probably null	Het
Dpp9	A	C	17: 56,518,666 (GRCm39)	L46R	probably benign	Het
Elavl1	A	T	8: 4,351,699 (GRCm39)	V139E	probably damaging	Het
Fndc3b	T	C	3: 27,483,144 (GRCm39)	Y1018C	probably damaging	Het
Fubp1	A	G	3: 151,921,261 (GRCm39)	N78D	possibly damaging	Het
Fubp3	C	T	2: 31,501,755 (GRCm39)		probably benign	Het
Gbx2	C	A	1: 89,856,559 (GRCm39)	R277L	probably damaging	Het
Gm128	T	C	3: 95,148,094 (GRCm39)	R67G	possibly damaging	Het
Gpc2	T	A	5: 138,273,792 (GRCm39)	R469W	probably damaging	Het
Ifi30	G	A	8: 71,217,407 (GRCm39)		probably benign	Het
Kbtbd4	T	C	2: 90,736,252 (GRCm39)	S88P	probably damaging	Het
Kif23	A	T	9: 61,842,750 (GRCm39)	Y216N	probably damaging	Het
Lgals4	A	G	7: 28,540,973 (GRCm39)	D299G	probably damaging	Het
Lmx1b	A	G	2: 33,459,071 (GRCm39)	S161P	probably benign	Het
Lrcol1	T	A	5: 110,502,444 (GRCm39)	S107T	probably benign	Het
Lrrc28	A	T	7: 67,195,223 (GRCm39)		probably null	Het
Ncoa4	T	C	14: 31,894,884 (GRCm39)	V42A	probably benign	Het
Nkd2	C	T	13: 73,969,599 (GRCm39)	S277N	probably benign	Het
Nlrp2	A	T	7: 5,340,769 (GRCm39)	L15Q	probably damaging	Het
Nynrin	T	G	14: 56,107,968 (GRCm39)	L1025R	probably damaging	Het
Or12d12	C	T	17: 37,610,629 (GRCm39)	R228H	probably benign	Het
Or5w1	G	T	2: 87,486,757 (GRCm39)	C169*	probably null	Het
Piwil4	A	T	9: 14,645,783 (GRCm39)	F152I	probably damaging	Het
Plod3	T	C	5: 137,025,002 (GRCm39)	S705P	probably benign	Het
Ppp2r2c	T	A	5: 37,026,166 (GRCm39)	M1K	probably null	Het
Rpap2	T	A	5: 107,768,061 (GRCm39)	S223T	probably damaging	Het
Shox2	T	C	3: 66,881,104 (GRCm39)		probably benign	Het
Slc30a4	T	C	2: 122,527,137 (GRCm39)	I370V	probably benign	Het
Slco1b2	A	G	6: 141,609,398 (GRCm39)	I269M	possibly damaging	Het
Slco1c1	A	G	6: 141,485,793 (GRCm39)	Y142C	probably damaging	Het
Slco3a1	T	C	7: 73,934,198 (GRCm39)	N658S	probably benign	Het
Sos1	A	T	17: 80,741,329 (GRCm39)	S485R	probably benign	Het
Srpk1	A	G	17: 28,825,291 (GRCm39)	L127P	probably damaging	Het
St3gal6	T	A	16: 58,314,033 (GRCm39)		probably benign	Het
Stk4	T	A	2: 163,916,134 (GRCm39)	M1K	probably null	Het
Tbc1d12	A	G	19: 38,871,176 (GRCm39)	E313G	probably benign	Het
Tbk1	A	G	10: 121,393,134 (GRCm39)	I472T	probably benign	Het
Tiam1	G	A	16: 89,586,168 (GRCm39)	R849W	probably damaging	Het
Tle3	A	G	9: 61,317,307 (GRCm39)	T381A	probably benign	Het
Tmem82	T	G	4: 141,341,954 (GRCm39)	T337P	probably benign	Het
Tmprss15	T	C	16: 78,868,149 (GRCm39)	T220A	probably benign	Het
Ung	A	G	5: 114,275,369 (GRCm39)	K242E	possibly damaging	Het
Vmn1r211	A	T	13: 23,036,571 (GRCm39)	M32K	probably benign	Het
Vps13d	T	G	4: 144,771,658 (GRCm39)	D956A	probably damaging	Het
Wdr64	T	A	1: 175,594,722 (GRCm39)		probably null	Het

Other mutations in Rgs19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01620:Rgs19	APN	2	181,331,381 (GRCm39)	missense	possibly damaging	0.72
IGL02096:Rgs19	APN	2	181,331,076 (GRCm39)	missense	probably damaging	1.00
IGL02529:Rgs19	APN	2	181,330,943 (GRCm39)	missense	probably benign	0.08
IGL03126:Rgs19	APN	2	181,333,114 (GRCm39)	missense	probably benign	0.00
IGL03235:Rgs19	APN	2	181,331,525 (GRCm39)	missense	probably benign	0.03
R1969:Rgs19	UTSW	2	181,331,276 (GRCm39)	missense	probably damaging	1.00
R5085:Rgs19	UTSW	2	181,331,336 (GRCm39)	missense	possibly damaging	0.65
R6083:Rgs19	UTSW	2	181,331,300 (GRCm39)	missense	probably damaging	1.00
R6852:Rgs19	UTSW	2	181,330,941 (GRCm39)	missense	possibly damaging	0.71
R7251:Rgs19	UTSW	2	181,331,541 (GRCm39)	missense	probably benign	0.00
R7535:Rgs19	UTSW	2	181,333,101 (GRCm39)	missense	probably damaging	0.96
R8936:Rgs19	UTSW	2	181,333,058 (GRCm39)	nonsense	probably null

Posted On

2013-12-09