Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01620:Rgs19'

92491

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 #

IGL01620

Quality Score

Status

Chromosome

Chromosomal Location

181330212-181335770 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 181331381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 84 (V84A)

Ref Sequence

ENSEMBL: ENSMUSP00000104400 (fasta)

Gene Model

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

AlphaFold

Q9CX84

Predicted Effect

probably benign
Transcript: ENSMUST00000002532
AA Change: V84A

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000002532
Gene: ENSMUSG00000002458
AA Change: V84A

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

possibly damaging
Transcript: ENSMUST00000108769
AA Change: V84A

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000104400
Gene: ENSMUSG00000002458
AA Change: V84A

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 benign
Transcript: ENSMUST00000108771
AA Change: V62A

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000104402
Gene: ENSMUSG00000002458
AA Change: V62A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000108772
AA Change: V62A

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000104403
Gene: ENSMUSG00000002458
AA Change: V62A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000108776
AA Change: V84A

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000104406
Gene: ENSMUSG00000002458
AA Change: V84A

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: ENSMUST00000108778
AA Change: V111A

PolyPhen 2 Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000104408
Gene: ENSMUSG00000002458
AA Change: V111A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000165416
AA Change: V84A

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000129026
Gene: ENSMUSG00000002458
AA Change: V84A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124776

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136145

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126623

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143510

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129686

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130712

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125892

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126844

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

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: ENSMUST00000144476

SMART Domains

Protein: ENSMUSP00000120723
Gene: ENSMUSG00000002458

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

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

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	T	15: 102,248,385 (GRCm39)	V277D	probably damaging	Het
Akap9	T	A	5: 4,010,218 (GRCm39)	V325D	probably benign	Het
Ambra1	A	G	2: 91,741,757 (GRCm39)		probably null	Het
Ano9	A	G	7: 140,690,352 (GRCm39)	L94P	probably damaging	Het
Atad3a	G	T	4: 155,830,535 (GRCm39)	T521K	probably damaging	Het
Bckdk	A	G	7: 127,504,948 (GRCm39)	K126E	possibly damaging	Het
Bdp1	A	T	13: 100,220,713 (GRCm39)		probably benign	Het
Btbd17	T	C	11: 114,686,599 (GRCm39)	T26A	probably benign	Het
Cadps2	G	A	6: 23,587,461 (GRCm39)	S314L	probably benign	Het
Ccl8	A	T	11: 82,007,435 (GRCm39)	Q90L	probably damaging	Het
Chit1	T	C	1: 134,078,257 (GRCm39)	V355A	probably damaging	Het
Col17a1	A	G	19: 47,656,978 (GRCm39)	I555T	possibly damaging	Het
Dmwd	T	A	7: 18,815,159 (GRCm39)		probably null	Het
Dtna	T	C	18: 23,758,144 (GRCm39)	I483T	probably damaging	Het
Eloc	T	A	1: 16,713,502 (GRCm39)		probably benign	Het
Emc7	T	A	2: 112,295,119 (GRCm39)	L177H	probably damaging	Het
Emsy	T	A	7: 98,275,831 (GRCm39)	K352I	probably damaging	Het
Ermn	T	C	2: 57,942,502 (GRCm39)	E76G	probably benign	Het
Flot1	A	T	17: 36,140,763 (GRCm39)	E203V	possibly damaging	Het
Hsd11b2	A	G	8: 106,249,529 (GRCm39)	K266R	probably benign	Het
Iqck	A	T	7: 118,476,901 (GRCm39)	K154M	probably damaging	Het
Itgb5	T	A	16: 33,740,168 (GRCm39)	V426E	probably damaging	Het
Kash5	T	C	7: 44,839,384 (GRCm39)	D359G	probably damaging	Het
Kif13a	T	C	13: 47,018,296 (GRCm39)	K53R	probably benign	Het
Klhl2	A	T	8: 65,232,772 (GRCm39)	H168Q	probably damaging	Het
Lpcat2b	T	C	5: 107,581,759 (GRCm39)	Y363H	probably damaging	Het
Lrp6	A	T	6: 134,488,225 (GRCm39)	N290K	probably damaging	Het
Map2k3	T	C	11: 60,840,873 (GRCm39)	F301L	possibly damaging	Het
Mns1	A	G	9: 72,364,195 (GRCm39)		probably benign	Het
Nos1	A	G	5: 118,043,374 (GRCm39)		probably null	Het
Or1j17	T	A	2: 36,578,550 (GRCm39)	C179S	probably damaging	Het
Or52h7	T	A	7: 104,214,220 (GRCm39)	V264D	probably damaging	Het
Pask	A	T	1: 93,237,844 (GRCm39)	H1374Q	possibly damaging	Het
Pik3r1	G	A	13: 101,822,728 (GRCm39)	A658V	probably damaging	Het
Ppp2r2a	A	T	14: 67,307,726 (GRCm39)	F14I	probably damaging	Het
Ptprc	C	T	1: 137,996,148 (GRCm39)	E904K	possibly damaging	Het
Rab11fip4	G	T	11: 79,582,705 (GRCm39)	D591Y	possibly damaging	Het
Rab3gap2	A	G	1: 184,936,523 (GRCm39)	T29A	probably benign	Het
Shisa6	T	G	11: 66,108,705 (GRCm39)	M391L	probably benign	Het
Sipa1l1	G	A	12: 82,469,263 (GRCm39)	G1254D	probably damaging	Het
Slfn8	A	T	11: 82,895,059 (GRCm39)	Y358*	probably null	Het
Taf3	G	T	2: 9,957,472 (GRCm39)	R232S	probably benign	Het
Terb2	T	A	2: 122,035,338 (GRCm39)	H186Q	possibly damaging	Het
Trav13n-4	T	C	14: 53,601,473 (GRCm39)	S81P	probably damaging	Het
Trim30d	G	T	7: 104,121,333 (GRCm39)	P321T	possibly damaging	Het
Tyrp1	G	T	4: 80,763,039 (GRCm39)	G309*	probably null	Het
Vps13d	C	A	4: 144,821,437 (GRCm39)	G2979V	possibly damaging	Het

Other mutations in Rgs19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01583:Rgs19	APN	2	181,331,246 (GRCm39)	missense	probably damaging	1.00
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