Mutagenetix > Incidental Mutation

Incidental Mutation 'R5132:Rgs12'

395865

Institutional Source

Beutler Lab

Gene Symbol

Rgs12

Ensembl Gene

ENSMUSG00000029101

Gene Name

regulator of G-protein signaling 12

Synonyms

1200016K18Rik, 4632412M04Rik

MMRRC Submission

042720-MU

Accession Numbers

Essential gene?

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

Stock #

R5132 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34949445-35039644 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 34989812 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115064 (fasta)

Gene Model

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

AlphaFold

Q8CGE9

Predicted Effect

probably benign
Transcript: ENSMUST00000030984

SMART Domains

Protein: ENSMUSP00000030984
Gene: ENSMUSG00000029101

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 benign
Transcript: ENSMUST00000087684

SMART Domains

Protein: ENSMUSP00000084970
Gene: ENSMUSG00000029101

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: ENSMUST00000114284

SMART Domains

Protein: ENSMUSP00000109923
Gene: ENSMUSG00000029101

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

SMART Domains

Protein: ENSMUSP00000109924
Gene: ENSMUSG00000029101

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: 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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (41/41)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110017D15Rik	A	G	4: 41,517,178		probably benign	Het
Abl2	A	T	1: 156,641,832	K785*	probably null	Het
Acad11	A	T	9: 104,126,592	I628L	probably benign	Het
Ago1	T	C	4: 126,461,723	I98V	probably benign	Het
Bach2	A	G	4: 32,563,396		probably benign	Het
Calr3	C	T	8: 72,431,368		probably null	Het
Cdc23	C	A	18: 34,651,689	V7L	unknown	Het
Cdc42ep3	C	T	17: 79,335,374	R39H	probably damaging	Het
Cyp2j5	T	C	4: 96,629,496	Y493C	probably damaging	Het
Ddx19b	A	T	8: 111,022,408	D66E	probably benign	Het
Drosha	A	G	15: 12,837,291	D287G	unknown	Het
Gm8888	A	G	15: 96,767,011		noncoding transcript	Het
Gpr25	G	T	1: 136,260,365	A170E	probably damaging	Het
Gria1	A	G	11: 57,289,399	Y656C	probably damaging	Het
Grik5	C	T	7: 25,065,204	V145I	probably benign	Het
Htt	T	C	5: 34,905,679	V2885A	possibly damaging	Het
Larp6	A	G	9: 60,737,210	E211G	probably damaging	Het
Magi1	C	A	6: 93,683,091		probably null	Het
Mtbp	A	G	15: 55,558,569	S63G	possibly damaging	Het
Ndor1	A	T	2: 25,247,769	S513T	probably benign	Het
Nsd3	A	G	8: 25,678,839	D670G	possibly damaging	Het
Olfr1118	A	T	2: 87,308,938	M50L	probably damaging	Het
Olfr1299	T	A	2: 111,664,999	Y258N	probably damaging	Het
Olfr513	T	C	7: 108,755,270	V138A	probably damaging	Het
Pcdh7	T	C	5: 57,728,121	V1061A	probably benign	Het
Pdia4	A	G	6: 47,796,735	I560T	probably benign	Het
Pomt2	A	G	12: 87,110,347	F733L	probably damaging	Het
Pprc1	T	C	19: 46,072,682		probably benign	Het
Prkca	T	C	11: 108,192,117		probably benign	Het
Pspc1	A	T	14: 56,723,250	S473T	probably benign	Het
Scn3a	C	T	2: 65,468,204	V1384I	probably benign	Het
Serpinb6a	C	T	13: 33,918,322	D307N	probably benign	Het
Smap2	T	C	4: 120,973,173	E255G	possibly damaging	Het
St7	A	T	6: 17,854,957	I298F	probably damaging	Het
Tgm7	A	G	2: 121,104,219	F93L	probably damaging	Het
Timm23	A	T	14: 32,193,945	D56E	probably damaging	Het
Tmem170	A	T	8: 111,869,725	M56K	probably benign	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
R1538:Rgs12	UTSW	5	35021167	missense	probably damaging	0.98
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
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

Posted On

2016-06-21