Mutagenetix > Incidental Mutation

Incidental Mutation 'R1538:Rgs12'

169675

Institutional Source

Beutler Lab

Gene Symbol

Rgs12

Ensembl Gene

ENSMUSG00000029101

Gene Name

regulator of G-protein signaling 12

Synonyms

1200016K18Rik, 4632412M04Rik

MMRRC Submission

039577-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.325) question?

Stock #

R1538 (G1)

Quality Score

164

Status

Not validated

Chromosome

Chromosomal Location

34949445-35039644 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 35021167 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 779 (T779S)

Ref Sequence

ENSEMBL: ENSMUSP00000084970 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030984] [ENSMUST00000087684] [ENSMUST00000114280] [ENSMUST00000114281] [ENSMUST00000114283] [ENSMUST00000114284] [ENSMUST00000114285] [ENSMUST00000156339] [ENSMUST00000225237]

AlphaFold

Q8CGE9

Predicted Effect

probably benign
Transcript: ENSMUST00000030984
AA Change: T779S

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000030984
Gene: ENSMUSG00000029101
AA Change: T779S

Domain	Start	End	E-Value	Type
PDZ	29	98	5.25e-18	SMART
PTB	224	373	5.05e-28	SMART
low complexity region	443	456	N/A	INTRINSIC
low complexity region	643	661	N/A	INTRINSIC
low complexity region	685	697	N/A	INTRINSIC
RGS	715	832	2.84e-41	SMART
low complexity region	849	865	N/A	INTRINSIC
low complexity region	868	880	N/A	INTRINSIC
low complexity region	911	928	N/A	INTRINSIC
RBD	962	1032	3.12e-28	SMART
RBD	1034	1104	2.44e-21	SMART
GoLoco	1187	1209	9.74e-9	SMART
low complexity region	1259	1280	N/A	INTRINSIC
low complexity region	1292	1308	N/A	INTRINSIC
low complexity region	1359	1378	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000087684
AA Change: T779S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000084970
Gene: ENSMUSG00000029101
AA Change: T779S

Domain	Start	End	E-Value	Type
PDZ	29	98	5.25e-18	SMART
PTB	224	373	5.05e-28	SMART
low complexity region	443	456	N/A	INTRINSIC
low complexity region	643	661	N/A	INTRINSIC
low complexity region	685	697	N/A	INTRINSIC
RGS	715	832	2.84e-41	SMART
Pfam:RGS12_us1	836	953	4.3e-61	PFAM
RBD	962	1032	3.12e-28	SMART
RBD	1034	1104	2.44e-21	SMART
Pfam:RGS12_us2	1106	1180	2.4e-37	PFAM
GoLoco	1187	1209	9.74e-9	SMART
Pfam:RGS12_usC	1238	1379	9.2e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114280
AA Change: T121S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000109919
Gene: ENSMUSG00000029101
AA Change: T121S

Domain	Start	End	E-Value	Type
low complexity region	27	39	N/A	INTRINSIC
RGS	57	174	2.84e-41	SMART
low complexity region	191	207	N/A	INTRINSIC
low complexity region	210	222	N/A	INTRINSIC
low complexity region	253	270	N/A	INTRINSIC
RBD	304	374	3.12e-28	SMART
RBD	376	446	2.44e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114281
AA Change: T121S

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000109920
Gene: ENSMUSG00000029101
AA Change: T121S

Domain	Start	End	E-Value	Type
low complexity region	27	39	N/A	INTRINSIC
RGS	57	174	2.84e-41	SMART
low complexity region	191	207	N/A	INTRINSIC
low complexity region	210	222	N/A	INTRINSIC
low complexity region	253	270	N/A	INTRINSIC
RBD	304	374	3.12e-28	SMART
RBD	376	446	2.44e-21	SMART
GoLoco	529	551	9.74e-9	SMART
low complexity region	601	622	N/A	INTRINSIC
low complexity region	634	650	N/A	INTRINSIC
low complexity region	701	720	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114283
AA Change: T121S

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000109922
Gene: ENSMUSG00000029101
AA Change: T121S

Domain	Start	End	E-Value	Type
low complexity region	27	39	N/A	INTRINSIC
RGS	57	174	2.84e-41	SMART
low complexity region	191	207	N/A	INTRINSIC
low complexity region	210	222	N/A	INTRINSIC
low complexity region	253	270	N/A	INTRINSIC
RBD	304	374	3.12e-28	SMART
RBD	376	446	2.44e-21	SMART
GoLoco	529	551	9.74e-9	SMART
low complexity region	601	622	N/A	INTRINSIC
low complexity region	634	650	N/A	INTRINSIC
low complexity region	697	729	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114284
AA Change: T131S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000109923
Gene: ENSMUSG00000029101
AA Change: T131S

Domain	Start	End	E-Value	Type
low complexity region	37	49	N/A	INTRINSIC
RGS	67	184	2.84e-41	SMART
low complexity region	201	217	N/A	INTRINSIC
low complexity region	220	232	N/A	INTRINSIC
low complexity region	263	280	N/A	INTRINSIC
RBD	314	384	3.12e-28	SMART
RBD	386	456	2.44e-21	SMART
GoLoco	539	561	9.74e-9	SMART
low complexity region	611	632	N/A	INTRINSIC
low complexity region	644	660	N/A	INTRINSIC
low complexity region	711	730	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114285
AA Change: T131S

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000109924
Gene: ENSMUSG00000029101
AA Change: T131S

Domain	Start	End	E-Value	Type
low complexity region	37	49	N/A	INTRINSIC
RGS	67	184	2.84e-41	SMART
low complexity region	201	217	N/A	INTRINSIC
low complexity region	220	232	N/A	INTRINSIC
low complexity region	263	280	N/A	INTRINSIC
RBD	314	384	3.12e-28	SMART
RBD	386	456	2.44e-21	SMART
GoLoco	539	561	9.74e-9	SMART
low complexity region	611	632	N/A	INTRINSIC
low complexity region	644	660	N/A	INTRINSIC
low complexity region	707	739	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128161

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135403

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141562

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153972

Predicted Effect

probably benign
Transcript: ENSMUST00000156339

SMART Domains

Protein: ENSMUSP00000115064
Gene: ENSMUSG00000029101

Domain	Start	End	E-Value	Type
Pfam:RGS	1	30	1.3e-7	PFAM
low complexity region	48	64	N/A	INTRINSIC
low complexity region	67	79	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156819

SMART Domains

Protein: ENSMUSP00000116913
Gene: ENSMUSG00000029101

Domain	Start	End	E-Value	Type
RBD	21	91	3.12e-28	SMART
RBD	93	163	2.44e-21	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175356

Predicted Effect

probably benign
Transcript: ENSMUST00000225237

Predicted Effect

probably benign
Transcript: ENSMUST00000201936

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the 'regulator of G protein signaling' (RGS) gene family. The encoded protein may function as a guanosine triphosphatase (GTPase)-activating protein as well as a transcriptional repressor. This protein may play a role in tumorigenesis. Multiple transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	T	3: 138,065,401	R117L	probably benign	Het
4930447C04Rik	G	A	12: 72,881,346	A537V	possibly damaging	Het
4930579F01Rik	A	C	3: 138,183,756	D33E	probably damaging	Het
9530053A07Rik	A	T	7: 28,155,492	I1848F	probably damaging	Het
Acnat1	T	C	4: 49,447,835	K249E	possibly damaging	Het
Ankrd13a	T	C	5: 114,804,234	I526T	possibly damaging	Het
Aplp1	C	A	7: 30,436,027	E535D	probably benign	Het
Armc8	T	A	9: 99,505,290	H425L	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Asprv1	C	T	6: 86,628,636	Q155*	probably null	Het
Atl1	A	G	12: 69,926,188	Q94R	probably benign	Het
Atp2a2	A	G	5: 122,457,377	L970P	probably damaging	Het
Atp8a2	T	C	14: 59,860,270	K770E	probably benign	Het
Bod1l	A	G	5: 41,816,429	M2514T	probably benign	Het
Cacfd1	T	A	2: 27,018,939	D97E	probably benign	Het
Cacna1e	A	G	1: 154,561,758	L344P	probably damaging	Het
Cacna2d2	C	A	9: 107,517,416	R596S	probably damaging	Het
Catip	C	A	1: 74,364,652	S176*	probably null	Het
Cdcp1	G	A	9: 123,173,588	S806L	probably damaging	Het
Cdk6	A	T	5: 3,520,675	I289L	probably benign	Het
Cers3	C	T	7: 66,781,823	T182I	probably damaging	Het
Cfap46	T	A	7: 139,683,008	N43I	probably null	Het
Clec4n	A	T	6: 123,230,033	R5S	possibly damaging	Het
Cnr2	G	T	4: 135,916,701	S30I	probably benign	Het
Col18a1	C	T	10: 77,071,336	G870E	probably damaging	Het
Cpne6	T	C	14: 55,515,220	V289A	possibly damaging	Het
Crym	G	A	7: 120,197,715	L141F	probably benign	Het
Cxxc5	T	C	18: 35,858,569	S8P	unknown	Het
Dido1	A	C	2: 180,684,970	S453R	possibly damaging	Het
Dnah2	A	C	11: 69,477,202	S1770R	probably benign	Het
Dnah7a	A	G	1: 53,495,989	V2704A	possibly damaging	Het
Eml5	T	C	12: 98,794,276	N1738S	probably damaging	Het
Eri3	A	G	4: 117,582,639	T138A	possibly damaging	Het
Ext2	C	T	2: 93,707,287	E585K	probably damaging	Het
Fam35a	C	G	14: 34,268,876	Q24H	probably damaging	Het
Fam84b	A	G	15: 60,823,649	C83R	probably damaging	Het
Fbxw19	T	A	9: 109,494,988	S38C	probably damaging	Het
Fmo6	G	A	1: 162,926,106	P156S	probably damaging	Het
Frem3	T	C	8: 80,612,710	L544P	probably damaging	Het
Frem3	A	T	8: 80,613,135	I686F	probably benign	Het
Gabra1	T	C	11: 42,140,350	Y251C	probably benign	Het
Gemin4	G	T	11: 76,211,161	Q925K	probably benign	Het
Gm18856	T	A	13: 13,964,689		probably benign	Het
Gnb1	A	T	4: 155,551,714	T164S	probably benign	Het
Gpx6	A	G	13: 21,313,652	D31G	possibly damaging	Het
Gzmd	A	C	14: 56,130,345	I157S	probably benign	Het
Il31ra	T	A	13: 112,547,466	N43I	possibly damaging	Het
Irak3	T	C	10: 120,165,130	T297A	probably benign	Het
Kank2	T	C	9: 21,774,631	D649G	probably damaging	Het
Kif3b	AGAGGAGGAGGAGGAGG	AGAGGAGGAGGAGG	2: 153,317,462		probably benign	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Klhl18	A	G	9: 110,446,747	F111S	probably damaging	Het
Lrp5	A	G	19: 3,647,585	S319P	possibly damaging	Het
Marc1	T	C	1: 184,802,002	E223G	probably damaging	Het
Mettl15	T	C	2: 109,131,665		probably null	Het
Ncoa1	T	C	12: 4,270,748	Q1107R	possibly damaging	Het
Ncoa7	T	G	10: 30,694,211	M251L	probably damaging	Het
Nos2	A	T	11: 78,956,570	M1023L	probably benign	Het
Nup107	T	C	10: 117,790,494	K25E	probably damaging	Het
Olfr1491	A	T	19: 13,705,496	Y223F	probably damaging	Het
Olfr177	T	A	16: 58,872,898	N84I	probably damaging	Het
Olfr482	T	A	7: 108,095,286	I95F	probably damaging	Het
Olfr591	A	G	7: 103,172,986	I217T	probably damaging	Het
Olfr711	A	T	7: 106,971,983	Y120*	probably null	Het
Olfr776	T	C	10: 129,261,213	I84T	probably damaging	Het
Parm1	G	A	5: 91,594,447	E225K	possibly damaging	Het
Pdzd2	A	C	15: 12,372,961	S2363A	probably damaging	Het
Piezo1	A	G	8: 122,491,403	L1199P	probably damaging	Het
Prpsap1	A	T	11: 116,479,708	M141K	probably benign	Het
Prss29	A	T	17: 25,320,283	M1L	possibly damaging	Het
Pter	T	A	2: 12,978,606	S141T	probably benign	Het
Ptpru	A	T	4: 131,774,351	D1181E	probably damaging	Het
Rab3ip	T	A	10: 116,939,254	Q66H	probably damaging	Het
Rgs22	A	G	15: 36,048,776	F786S	probably damaging	Het
Rnasel	A	T	1: 153,760,794	D640V	possibly damaging	Het
Rp1	T	C	1: 4,345,676	T1738A	probably damaging	Het
Sacs	T	C	14: 61,210,059	S3185P	probably damaging	Het
Scnn1a	T	A	6: 125,338,893	D321E	possibly damaging	Het
Sec31b	G	C	19: 44,518,586	L1014V	probably benign	Het
Serpinb10	A	G	1: 107,540,960	Y111C	probably damaging	Het
Siglecg	A	G	7: 43,417,889	K627E	possibly damaging	Het
Sigmar1	T	C	4: 41,740,845	I95V	probably benign	Het
Sirpb1b	T	A	3: 15,548,759	T88S	possibly damaging	Het
Spire2	T	G	8: 123,358,156	L245R	probably damaging	Het
Stard9	C	A	2: 120,696,711	P1150T	probably benign	Het
Stat6	C	A	10: 127,653,256	T380N	probably damaging	Het
Sult3a1	G	A	10: 33,870,170	G162E	probably benign	Het
Surf4	T	C	2: 26,933,698		probably null	Het
Tacc2	T	C	7: 130,625,419	M1278T	probably benign	Het
Tacr2	T	A	10: 62,261,327		probably null	Het
Tcaf1	A	T	6: 42,678,989	V351E	probably damaging	Het
Tmcc2	A	G	1: 132,380,980	S59P	probably damaging	Het
Tmem17	G	A	11: 22,517,266	S60N	possibly damaging	Het
Tmem63b	C	G	17: 45,678,978	R88P	possibly damaging	Het
Tmprss7	A	T	16: 45,679,390	I307N	probably benign	Het
Treml2	A	T	17: 48,302,758	T73S	possibly damaging	Het
Trrap	A	G	5: 144,837,202	H2876R	possibly damaging	Het
Tyw3	A	G	3: 154,596,869	I53T	probably damaging	Het
Ugp2	A	G	11: 21,333,791	I92T	possibly damaging	Het
Vmn2r66	A	T	7: 84,994,958	M748K	possibly damaging	Het
Vmn2r82	T	C	10: 79,356,744	S52P	possibly damaging	Het
Wdr37	A	T	13: 8,836,792	S320T	probably benign	Het
Zbtb16	A	T	9: 48,832,283	M243K	probably benign	Het
Zfr	C	T	15: 12,150,243	T432I	possibly damaging	Het

Other mutations in Rgs12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01443:Rgs12	APN	5	34975219	missense	probably benign	0.25
IGL02296:Rgs12	APN	5	34966120	missense	probably damaging	0.96
IGL02337:Rgs12	APN	5	35020353	missense	probably damaging	1.00
IGL02483:Rgs12	APN	5	35030517	missense	probably damaging	1.00
IGL02869:Rgs12	APN	5	35025883	missense	probably damaging	0.97
IGL02989:Rgs12	APN	5	34965119	missense	probably damaging	1.00
R0015:Rgs12	UTSW	5	35022776	unclassified	probably benign
R0015:Rgs12	UTSW	5	35022776	unclassified	probably benign
R0046:Rgs12	UTSW	5	34965320	missense	probably damaging	1.00
R0046:Rgs12	UTSW	5	34965320	missense	probably damaging	1.00
R0106:Rgs12	UTSW	5	34966664	missense	probably benign	0.03
R0106:Rgs12	UTSW	5	34966664	missense	probably benign	0.03
R0233:Rgs12	UTSW	5	35030498	missense	probably damaging	1.00
R0233:Rgs12	UTSW	5	35030498	missense	probably damaging	1.00
R0245:Rgs12	UTSW	5	35030080	missense	probably benign	0.01
R0611:Rgs12	UTSW	5	35019460	missense	probably damaging	1.00
R0704:Rgs12	UTSW	5	35023122	missense	possibly damaging	0.95
R0723:Rgs12	UTSW	5	35024366	unclassified	probably benign
R1174:Rgs12	UTSW	5	34966465	missense	probably benign	0.00
R1556:Rgs12	UTSW	5	35039282	missense	possibly damaging	0.67
R1774:Rgs12	UTSW	5	34966403	missense	probably benign	0.34
R1791:Rgs12	UTSW	5	34966112	missense	possibly damaging	0.86
R1866:Rgs12	UTSW	5	34965674	missense	probably damaging	1.00
R1872:Rgs12	UTSW	5	34965821	missense	probably damaging	1.00
R1923:Rgs12	UTSW	5	35032269	missense	probably damaging	1.00
R2012:Rgs12	UTSW	5	35030528	missense	probably benign	0.00
R2107:Rgs12	UTSW	5	34966735	missense	possibly damaging	0.68
R3730:Rgs12	UTSW	5	35032251	missense	probably damaging	1.00
R3731:Rgs12	UTSW	5	35032251	missense	probably damaging	1.00
R3808:Rgs12	UTSW	5	35032354	missense	probably damaging	1.00
R3826:Rgs12	UTSW	5	34966015	missense	possibly damaging	0.94
R3827:Rgs12	UTSW	5	34966015	missense	possibly damaging	0.94
R3829:Rgs12	UTSW	5	34966015	missense	possibly damaging	0.94
R3830:Rgs12	UTSW	5	34966015	missense	possibly damaging	0.94
R4392:Rgs12	UTSW	5	35032311	missense	probably damaging	1.00
R4617:Rgs12	UTSW	5	35020356	missense	probably damaging	1.00
R5132:Rgs12	UTSW	5	34989812	intron	probably benign
R5213:Rgs12	UTSW	5	34965320	missense	probably damaging	1.00
R5296:Rgs12	UTSW	5	35021104	unclassified	probably benign
R5480:Rgs12	UTSW	5	34966111	missense	probably benign	0.09
R5510:Rgs12	UTSW	5	34966039	missense	probably damaging	1.00
R5708:Rgs12	UTSW	5	34966352	missense	probably benign	0.41
R5987:Rgs12	UTSW	5	35020345	missense	probably damaging	1.00
R6053:Rgs12	UTSW	5	34965952	missense	probably benign	0.01
R6113:Rgs12	UTSW	5	35020323	missense	probably damaging	0.99
R6401:Rgs12	UTSW	5	35020332	missense	probably damaging	1.00
R6736:Rgs12	UTSW	5	35023092	missense	probably damaging	1.00
R6807:Rgs12	UTSW	5	35023171	missense	probably null	0.27
R6857:Rgs12	UTSW	5	35030022	nonsense	probably null
R7082:Rgs12	UTSW	5	34966706	missense	probably benign	0.00
R7250:Rgs12	UTSW	5	34965497	missense	probably damaging	1.00
R7276:Rgs12	UTSW	5	35026371	missense	probably benign	0.06
R7444:Rgs12	UTSW	5	35025943	missense	possibly damaging	0.65
R7632:Rgs12	UTSW	5	34965590	missense	probably damaging	1.00
R8049:Rgs12	UTSW	5	35026030	missense	possibly damaging	0.89
R8089:Rgs12	UTSW	5	35020348	missense	probably damaging	1.00
R8241:Rgs12	UTSW	5	34965773	missense	probably damaging	1.00
R8797:Rgs12	UTSW	5	35029571	missense
R8927:Rgs12	UTSW	5	34966289	missense	possibly damaging	0.93
R8928:Rgs12	UTSW	5	34966289	missense	possibly damaging	0.93
R9073:Rgs12	UTSW	5	35020409	unclassified	probably benign
R9211:Rgs12	UTSW	5	34965821	missense	probably damaging	0.98
R9485:Rgs12	UTSW	5	35032270	missense	probably damaging	0.99
R9550:Rgs12	UTSW	5	35039321	missense	probably damaging	0.99
Z1176:Rgs12	UTSW	5	34965769	missense	probably damaging	1.00
Z1177:Rgs12	UTSW	5	34964854	start gained	probably benign
Z1177:Rgs12	UTSW	5	35026352	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- AGCAGCCATTTAGAAATTTGCAGCC -3'
(R):5'- TTGTCACCATGCCCACATGACC -3'

Sequencing Primer
(F):5'- ACTATAGACAGGGCCTGTGACTC -3'
(R):5'- CCTTCCCAGAAGGGCAC -3'

Posted On

2014-04-13