Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02989:Rgs12'

406845

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rgs12

Ensembl Gene

ENSMUSG00000029101

Gene Name

regulator of G-protein signaling 12

Synonyms

4632412M04Rik, 1200016K18Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.247) question?

Stock #

IGL02989

Quality Score

Status

Chromosome

Chromosomal Location

35106789-35196988 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35122463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 82 (L82Q)

Ref Sequence

ENSEMBL: ENSMUSP00000084970 (fasta)

Gene Model

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

AlphaFold

Q8CGE9

Predicted Effect

probably damaging
Transcript: ENSMUST00000030984
AA Change: L82Q

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

SMART Domains

Protein: ENSMUSP00000030984
Gene: ENSMUSG00000029101
AA Change: L82Q

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: L82Q

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

SMART Domains

Protein: ENSMUSP00000084970
Gene: ENSMUSG00000029101
AA Change: L82Q

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

noncoding transcript
Transcript: ENSMUST00000128161

Coding Region Coverage

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a1	T	A	19: 20,617,422 (GRCm39)		probably benign	Het
Arhgap15	A	G	2: 43,670,748 (GRCm39)	D44G	probably damaging	Het
Arhgap35	A	T	7: 16,231,580 (GRCm39)	*1500R	probably null	Het
Arid1b	A	G	17: 5,385,322 (GRCm39)	Y1413C	probably damaging	Het
Atf6	A	G	1: 170,616,252 (GRCm39)		probably benign	Het
Cant1	T	C	11: 118,302,038 (GRCm39)	Y93C	probably damaging	Het
Cat	A	G	2: 103,303,318 (GRCm39)	F153S	probably damaging	Het
Ccdc187	G	A	2: 26,166,443 (GRCm39)	R712W	possibly damaging	Het
Clpb	T	C	7: 101,428,427 (GRCm39)	S396P	probably damaging	Het
Cntnap5a	A	G	1: 116,339,813 (GRCm39)		probably benign	Het
Dap3	G	A	3: 88,837,878 (GRCm39)		probably benign	Het
Dnah6	T	A	6: 73,046,403 (GRCm39)	D3195V	probably damaging	Het
Eprs1	T	G	1: 185,150,563 (GRCm39)	F1355C	probably benign	Het
Faim2	A	G	15: 99,418,243 (GRCm39)		probably benign	Het
Fancg	A	G	4: 43,007,121 (GRCm39)		probably benign	Het
Fbxo42	T	A	4: 140,926,845 (GRCm39)	I375N	probably damaging	Het
Gabrr3	A	T	16: 59,268,371 (GRCm39)	D328V	probably damaging	Het
Gm5849	T	A	3: 90,685,107 (GRCm39)	D26V	probably damaging	Het
Gm6563	T	C	19: 23,653,234 (GRCm39)	L8P	possibly damaging	Het
Gpld1	A	G	13: 25,174,019 (GRCm39)	N815D	possibly damaging	Het
Hrob	A	G	11: 102,146,125 (GRCm39)	I134V	probably benign	Het
Idh2	T	A	7: 79,748,856 (GRCm39)	I142F	probably damaging	Het
Kcnh7	A	C	2: 62,552,269 (GRCm39)	N907K	probably benign	Het
Mcm3ap	A	G	10: 76,306,894 (GRCm39)	T336A	possibly damaging	Het
Or4c15	A	T	2: 88,760,048 (GRCm39)	S204T	possibly damaging	Het
Or52i2	T	C	7: 102,319,651 (GRCm39)	S175P	possibly damaging	Het
Or5b3	C	A	19: 13,388,850 (GRCm39)	Q306K	probably benign	Het
Pilrb1	C	A	5: 137,855,492 (GRCm39)	R133L	possibly damaging	Het
Pitpnm3	C	A	11: 72,011,012 (GRCm39)		probably benign	Het
Prkdc	C	T	16: 15,617,880 (GRCm39)	T3237I	possibly damaging	Het
Pspc1	A	G	14: 57,009,153 (GRCm39)		probably benign	Het
Rasgrp4	G	A	7: 28,847,831 (GRCm39)	E414K	probably damaging	Het
Sh3gl3	T	C	7: 81,923,087 (GRCm39)	V117A	probably benign	Het
Shisa5	G	A	9: 108,885,062 (GRCm39)	A112T	probably damaging	Het
Tasor2	A	T	13: 3,634,820 (GRCm39)	H662Q	probably benign	Het
Tedc1	A	G	12: 113,126,941 (GRCm39)	E401G	probably benign	Het
Tsc22d1	T	C	14: 76,656,341 (GRCm39)	M940T	probably benign	Het
Vmn1r129	A	T	7: 21,094,663 (GRCm39)	V185E	probably damaging	Het
Zfp982	C	A	4: 147,597,052 (GRCm39)	D136E	possibly damaging	Het

Other mutations in Rgs12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01443:Rgs12	APN	5	35,132,563 (GRCm39)	missense	probably benign	0.25
IGL02296:Rgs12	APN	5	35,123,464 (GRCm39)	missense	probably damaging	0.96
IGL02337:Rgs12	APN	5	35,177,697 (GRCm39)	missense	probably damaging	1.00
IGL02483:Rgs12	APN	5	35,187,861 (GRCm39)	missense	probably damaging	1.00
IGL02869:Rgs12	APN	5	35,183,227 (GRCm39)	missense	probably damaging	0.97
R0015:Rgs12	UTSW	5	35,180,120 (GRCm39)	unclassified	probably benign
R0015:Rgs12	UTSW	5	35,180,120 (GRCm39)	unclassified	probably benign
R0046:Rgs12	UTSW	5	35,122,664 (GRCm39)	missense	probably damaging	1.00
R0046:Rgs12	UTSW	5	35,122,664 (GRCm39)	missense	probably damaging	1.00
R0106:Rgs12	UTSW	5	35,124,008 (GRCm39)	missense	probably benign	0.03
R0106:Rgs12	UTSW	5	35,124,008 (GRCm39)	missense	probably benign	0.03
R0233:Rgs12	UTSW	5	35,187,842 (GRCm39)	missense	probably damaging	1.00
R0233:Rgs12	UTSW	5	35,187,842 (GRCm39)	missense	probably damaging	1.00
R0245:Rgs12	UTSW	5	35,187,424 (GRCm39)	missense	probably benign	0.01
R0611:Rgs12	UTSW	5	35,176,804 (GRCm39)	missense	probably damaging	1.00
R0704:Rgs12	UTSW	5	35,180,466 (GRCm39)	missense	possibly damaging	0.95
R0723:Rgs12	UTSW	5	35,181,710 (GRCm39)	unclassified	probably benign
R1174:Rgs12	UTSW	5	35,123,809 (GRCm39)	missense	probably benign	0.00
R1538:Rgs12	UTSW	5	35,178,511 (GRCm39)	missense	probably damaging	0.98
R1556:Rgs12	UTSW	5	35,196,626 (GRCm39)	missense	possibly damaging	0.67
R1774:Rgs12	UTSW	5	35,123,747 (GRCm39)	missense	probably benign	0.34
R1791:Rgs12	UTSW	5	35,123,456 (GRCm39)	missense	possibly damaging	0.86
R1866:Rgs12	UTSW	5	35,123,018 (GRCm39)	missense	probably damaging	1.00
R1872:Rgs12	UTSW	5	35,123,165 (GRCm39)	missense	probably damaging	1.00
R1923:Rgs12	UTSW	5	35,189,613 (GRCm39)	missense	probably damaging	1.00
R2012:Rgs12	UTSW	5	35,187,872 (GRCm39)	missense	probably benign	0.00
R2107:Rgs12	UTSW	5	35,124,079 (GRCm39)	missense	possibly damaging	0.68
R3730:Rgs12	UTSW	5	35,189,595 (GRCm39)	missense	probably damaging	1.00
R3731:Rgs12	UTSW	5	35,189,595 (GRCm39)	missense	probably damaging	1.00
R3808:Rgs12	UTSW	5	35,189,698 (GRCm39)	missense	probably damaging	1.00
R3826:Rgs12	UTSW	5	35,123,359 (GRCm39)	missense	possibly damaging	0.94
R3827:Rgs12	UTSW	5	35,123,359 (GRCm39)	missense	possibly damaging	0.94
R3829:Rgs12	UTSW	5	35,123,359 (GRCm39)	missense	possibly damaging	0.94
R3830:Rgs12	UTSW	5	35,123,359 (GRCm39)	missense	possibly damaging	0.94
R4392:Rgs12	UTSW	5	35,189,655 (GRCm39)	missense	probably damaging	1.00
R4617:Rgs12	UTSW	5	35,177,700 (GRCm39)	missense	probably damaging	1.00
R5132:Rgs12	UTSW	5	35,147,156 (GRCm39)	intron	probably benign
R5213:Rgs12	UTSW	5	35,122,664 (GRCm39)	missense	probably damaging	1.00
R5296:Rgs12	UTSW	5	35,178,448 (GRCm39)	unclassified	probably benign
R5480:Rgs12	UTSW	5	35,123,455 (GRCm39)	missense	probably benign	0.09
R5510:Rgs12	UTSW	5	35,123,383 (GRCm39)	missense	probably damaging	1.00
R5708:Rgs12	UTSW	5	35,123,696 (GRCm39)	missense	probably benign	0.41
R5987:Rgs12	UTSW	5	35,177,689 (GRCm39)	missense	probably damaging	1.00
R6053:Rgs12	UTSW	5	35,123,296 (GRCm39)	missense	probably benign	0.01
R6113:Rgs12	UTSW	5	35,177,667 (GRCm39)	missense	probably damaging	0.99
R6401:Rgs12	UTSW	5	35,177,676 (GRCm39)	missense	probably damaging	1.00
R6736:Rgs12	UTSW	5	35,180,436 (GRCm39)	missense	probably damaging	1.00
R6807:Rgs12	UTSW	5	35,180,515 (GRCm39)	missense	probably null	0.27
R6857:Rgs12	UTSW	5	35,187,366 (GRCm39)	nonsense	probably null
R7082:Rgs12	UTSW	5	35,124,050 (GRCm39)	missense	probably benign	0.00
R7250:Rgs12	UTSW	5	35,122,841 (GRCm39)	missense	probably damaging	1.00
R7276:Rgs12	UTSW	5	35,183,715 (GRCm39)	missense	probably benign	0.06
R7444:Rgs12	UTSW	5	35,183,287 (GRCm39)	missense	possibly damaging	0.65
R7632:Rgs12	UTSW	5	35,122,934 (GRCm39)	missense	probably damaging	1.00
R8049:Rgs12	UTSW	5	35,183,374 (GRCm39)	missense	possibly damaging	0.89
R8089:Rgs12	UTSW	5	35,177,692 (GRCm39)	missense	probably damaging	1.00
R8241:Rgs12	UTSW	5	35,123,117 (GRCm39)	missense	probably damaging	1.00
R8797:Rgs12	UTSW	5	35,186,915 (GRCm39)	missense
R8927:Rgs12	UTSW	5	35,123,633 (GRCm39)	missense	possibly damaging	0.93
R8928:Rgs12	UTSW	5	35,123,633 (GRCm39)	missense	possibly damaging	0.93
R9073:Rgs12	UTSW	5	35,177,753 (GRCm39)	unclassified	probably benign
R9211:Rgs12	UTSW	5	35,123,165 (GRCm39)	missense	probably damaging	0.98
R9485:Rgs12	UTSW	5	35,189,614 (GRCm39)	missense	probably damaging	0.99
R9550:Rgs12	UTSW	5	35,196,665 (GRCm39)	missense	probably damaging	0.99
Z1176:Rgs12	UTSW	5	35,123,113 (GRCm39)	missense	probably damaging	1.00
Z1177:Rgs12	UTSW	5	35,183,696 (GRCm39)	missense	probably benign	0.44
Z1177:Rgs12	UTSW	5	35,122,198 (GRCm39)	start gained	probably benign

Posted On

2016-08-02