Mutagenetix > Incidental Mutation

Incidental Mutation 'R5045:Rgsl1'

394293

Institutional Source

Beutler Lab

Gene Symbol

Rgsl1

Ensembl Gene

ENSMUSG00000042641

Gene Name

regulator of G-protein signaling like 1

Synonyms

4930415K13Rik, Rgsl2

MMRRC Submission

042635-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5045 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

153655127-153719888 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 153697268 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 551 (K551*)

Ref Sequence

ENSEMBL: ENSMUSP00000139340 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000124558] [ENSMUST00000185164]

AlphaFold

A0A5F8MPV0

Predicted Effect

probably null
Transcript: ENSMUST00000124558
AA Change: K516*

SMART Domains

Protein: ENSMUSP00000135642
Gene: ENSMUSG00000042641
AA Change: K516*

Domain	Start	End	E-Value	Type
low complexity region	122	136	N/A	INTRINSIC
low complexity region	242	254	N/A	INTRINSIC
low complexity region	316	325	N/A	INTRINSIC
Pfam:RGS	644	754	7.1e-12	PFAM
transmembrane domain	956	973	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134030

Predicted Effect

probably benign
Transcript: ENSMUST00000184095

Predicted Effect

probably null
Transcript: ENSMUST00000185164
AA Change: K551*

SMART Domains

Protein: ENSMUSP00000139340
Gene: ENSMUSG00000042641
AA Change: K551*

Domain	Start	End	E-Value	Type
low complexity region	157	171	N/A	INTRINSIC
low complexity region	277	289	N/A	INTRINSIC
low complexity region	351	360	N/A	INTRINSIC
Pfam:RGS	679	789	4.1e-11	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	T	C	3: 36,530,327 (GRCm39)		probably benign	Het
2210408I21Rik	A	G	13: 77,415,927 (GRCm39)		probably null	Het
4930519P11Rik	A	T	2: 154,454,950 (GRCm39)	C136*	probably null	Het
4930519P11Rik	G	T	2: 154,454,982 (GRCm39)		probably benign	Het
Adgrb3	T	A	1: 25,113,860 (GRCm39)	H1189L	probably damaging	Het
Arhgap24	A	G	5: 103,039,743 (GRCm39)	I227V	possibly damaging	Het
Arhgap29	C	A	3: 121,796,244 (GRCm39)	N445K	probably benign	Het
Atp13a3	T	C	16: 30,158,694 (GRCm39)	H811R	probably benign	Het
Cd2ap	T	C	17: 43,118,851 (GRCm39)	N529S	probably benign	Het
Cdh20	T	A	1: 110,026,080 (GRCm39)	S439T	probably benign	Het
Ces3a	G	T	8: 105,777,248 (GRCm39)		probably null	Het
Cftr	T	A	6: 18,230,080 (GRCm39)	N408K	probably benign	Het
Chil5	T	C	3: 105,931,456 (GRCm39)	N136S	possibly damaging	Het
Col20a1	A	G	2: 180,648,638 (GRCm39)	D933G	probably damaging	Het
Crh	A	T	3: 19,748,153 (GRCm39)	L163*	probably null	Het
Ctps1	A	C	4: 120,410,075 (GRCm39)		probably null	Het
Cyb5d2	A	G	11: 72,686,401 (GRCm39)	V63A	probably damaging	Het
Cyp2d11	T	A	15: 82,275,272 (GRCm39)		probably null	Het
Dclk3	A	T	9: 111,296,856 (GRCm39)	E133D	probably damaging	Het
Dhrs9	A	G	2: 69,223,339 (GRCm39)	D29G	probably benign	Het
Disp2	G	A	2: 118,622,543 (GRCm39)	E1092K	probably benign	Het
Enpp3	A	G	10: 24,652,665 (GRCm39)	I764T	probably damaging	Het
Epm2aip1	C	A	9: 111,102,427 (GRCm39)	R467S	possibly damaging	Het
Fam20a	T	C	11: 109,568,711 (GRCm39)	I272V	probably benign	Het
Fgb	T	C	3: 82,950,680 (GRCm39)	Y358C	probably damaging	Het
Gm11596	A	T	11: 99,683,695 (GRCm39)	S142T	unknown	Het
Golga4	A	G	9: 118,394,724 (GRCm39)	T9A	probably benign	Het
Hmcn2	C	T	2: 31,299,093 (GRCm39)	P2813L	probably damaging	Het
Ighv1-9	C	T	12: 114,547,440 (GRCm39)	G34R	probably damaging	Het
Kalrn	A	C	16: 34,134,722 (GRCm39)	Y353*	probably null	Het
Klrk1	T	C	6: 129,594,466 (GRCm39)	Y42C	probably benign	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Mbtd1	T	C	11: 93,822,641 (GRCm39)	Y484H	probably benign	Het
Mki67	T	C	7: 135,309,633 (GRCm39)	R273G	possibly damaging	Het
Myh11	A	T	16: 14,057,391 (GRCm39)	L308*	probably null	Het
Nacc2	G	A	2: 25,980,150 (GRCm39)		probably null	Het
Nadsyn1	A	G	7: 143,360,706 (GRCm39)	L354P	probably damaging	Het
Ntrk3	T	A	7: 78,110,172 (GRCm39)	Q354L	probably benign	Het
Or10ag58	A	T	2: 87,265,490 (GRCm39)	I220L	probably damaging	Het
Or52r1c	G	A	7: 102,735,664 (GRCm39)	G308E	probably benign	Het
Phactr3	T	C	2: 177,973,412 (GRCm39)	I470T	probably damaging	Het
Pkd1l3	C	T	8: 110,349,787 (GRCm39)	P211S	unknown	Het
Potefam1	T	A	2: 111,023,804 (GRCm39)	Q110L	unknown	Het
Prickle2	T	C	6: 92,353,375 (GRCm39)	D753G	probably damaging	Het
Prr12	A	G	7: 44,699,318 (GRCm39)		probably benign	Het
Psd3	T	C	8: 68,166,477 (GRCm39)	E917G	probably damaging	Het
Stag3	T	C	5: 138,302,740 (GRCm39)	L1033P	probably damaging	Het
Tcaf3	T	A	6: 42,570,618 (GRCm39)	Q378L	possibly damaging	Het
Tdpoz8	G	T	3: 92,981,524 (GRCm39)	D181Y	probably damaging	Het
Tespa1	A	T	10: 130,197,904 (GRCm39)	K309*	probably null	Het
Trim69	A	G	2: 122,004,727 (GRCm39)	T275A	probably benign	Het
Txndc17	T	C	11: 72,098,537 (GRCm39)	Y30H	probably damaging	Het
Ugt2a2	A	T	5: 87,622,751 (GRCm39)	F72L	probably damaging	Het
Vmn2r59	A	T	7: 41,695,496 (GRCm39)	D305E	possibly damaging	Het
Vmn2r71	A	G	7: 85,273,597 (GRCm39)	I804V	probably benign	Het
Zfy2	T	C	Y: 2,107,159 (GRCm39)	K492E	possibly damaging	Het
Zkscan1	A	G	5: 138,099,182 (GRCm39)	H375R	probably damaging	Het

Other mutations in Rgsl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01372:Rgsl1	APN	1	153,701,887 (GRCm39)	missense	probably damaging	1.00
IGL02253:Rgsl1	APN	1	153,669,513 (GRCm39)	missense	probably damaging	1.00
IGL02345:Rgsl1	APN	1	153,679,755 (GRCm39)	splice site	probably null
IGL02409:Rgsl1	APN	1	153,701,989 (GRCm39)	missense	possibly damaging	0.53
IGL02587:Rgsl1	APN	1	153,675,684 (GRCm39)	missense	probably damaging	1.00
IGL02652:Rgsl1	APN	1	153,701,236 (GRCm39)	missense	probably damaging	1.00
IGL02797:Rgsl1	APN	1	153,683,454 (GRCm39)	missense	probably damaging	1.00
IGL03032:Rgsl1	APN	1	153,701,948 (GRCm39)	missense	possibly damaging	0.53
IGL03082:Rgsl1	APN	1	153,675,693 (GRCm39)	missense	possibly damaging	0.86
IGL03123:Rgsl1	APN	1	153,701,687 (GRCm39)	missense	probably damaging	1.00
IGL03213:Rgsl1	APN	1	153,701,587 (GRCm39)	missense	probably benign	0.12
IGL03410:Rgsl1	APN	1	153,669,501 (GRCm39)	missense	probably null	0.82
Bam	UTSW	1	153,669,898 (GRCm39)	missense	probably benign	0.00
Candygram	UTSW	1	153,697,245 (GRCm39)	nonsense	probably null
wham	UTSW	1	153,678,038 (GRCm39)	missense	probably benign	0.02
IGL03050:Rgsl1	UTSW	1	153,701,422 (GRCm39)	missense	possibly damaging	0.60
PIT4519001:Rgsl1	UTSW	1	153,701,716 (GRCm39)	missense	possibly damaging	0.96
R0149:Rgsl1	UTSW	1	153,669,510 (GRCm39)	missense	probably damaging	1.00
R0536:Rgsl1	UTSW	1	153,701,927 (GRCm39)	missense	probably damaging	1.00
R0633:Rgsl1	UTSW	1	153,719,853 (GRCm39)	missense	possibly damaging	0.72
R0726:Rgsl1	UTSW	1	153,678,074 (GRCm39)	missense	probably damaging	1.00
R0839:Rgsl1	UTSW	1	153,677,980 (GRCm39)	critical splice donor site	probably null
R1240:Rgsl1	UTSW	1	153,660,937 (GRCm39)	missense	probably benign	0.18
R1355:Rgsl1	UTSW	1	153,683,507 (GRCm39)	start codon destroyed	probably null	0.23
R1491:Rgsl1	UTSW	1	153,701,672 (GRCm39)	missense	possibly damaging	0.93
R1688:Rgsl1	UTSW	1	153,680,422 (GRCm39)	missense	probably damaging	0.98
R1694:Rgsl1	UTSW	1	153,680,422 (GRCm39)	missense	probably damaging	0.98
R1842:Rgsl1	UTSW	1	153,675,543 (GRCm39)	missense	probably damaging	1.00
R2008:Rgsl1	UTSW	1	153,701,651 (GRCm39)	missense	possibly damaging	0.53
R2114:Rgsl1	UTSW	1	153,693,295 (GRCm39)	missense	probably benign
R2116:Rgsl1	UTSW	1	153,693,295 (GRCm39)	missense	probably benign
R2176:Rgsl1	UTSW	1	153,701,014 (GRCm39)	splice site	probably benign
R2229:Rgsl1	UTSW	1	153,698,104 (GRCm39)	missense	possibly damaging	0.72
R2895:Rgsl1	UTSW	1	153,703,294 (GRCm39)	missense	probably damaging	1.00
R3923:Rgsl1	UTSW	1	153,679,876 (GRCm39)	critical splice acceptor site	probably null
R4001:Rgsl1	UTSW	1	153,693,330 (GRCm39)	missense	probably damaging	1.00
R4434:Rgsl1	UTSW	1	153,678,087 (GRCm39)	missense	possibly damaging	0.52
R4489:Rgsl1	UTSW	1	153,703,282 (GRCm39)	missense	probably benign	0.27
R4649:Rgsl1	UTSW	1	153,693,328 (GRCm39)	missense	probably benign	0.01
R4925:Rgsl1	UTSW	1	153,688,023 (GRCm39)	missense	probably benign	0.01
R4928:Rgsl1	UTSW	1	153,669,514 (GRCm39)	missense	probably damaging	1.00
R5304:Rgsl1	UTSW	1	153,703,238 (GRCm39)	missense	probably damaging	0.97
R5331:Rgsl1	UTSW	1	153,678,038 (GRCm39)	missense	probably benign	0.02
R5373:Rgsl1	UTSW	1	153,666,053 (GRCm39)	missense	probably benign	0.33
R5374:Rgsl1	UTSW	1	153,666,053 (GRCm39)	missense	probably benign	0.33
R5566:Rgsl1	UTSW	1	153,669,520 (GRCm39)	missense	probably damaging	1.00
R5649:Rgsl1	UTSW	1	153,701,639 (GRCm39)	missense	possibly damaging	0.93
R6062:Rgsl1	UTSW	1	153,675,618 (GRCm39)	missense	possibly damaging	0.72
R6142:Rgsl1	UTSW	1	153,687,984 (GRCm39)	missense	probably benign	0.01
R6158:Rgsl1	UTSW	1	153,679,767 (GRCm39)	missense	possibly damaging	0.72
R6184:Rgsl1	UTSW	1	153,703,194 (GRCm39)	missense	probably benign	0.08
R6273:Rgsl1	UTSW	1	153,703,211 (GRCm39)	missense	possibly damaging	0.96
R6384:Rgsl1	UTSW	1	153,703,291 (GRCm39)	missense	possibly damaging	0.86
R6419:Rgsl1	UTSW	1	153,698,117 (GRCm39)	missense	probably damaging	0.98
R6568:Rgsl1	UTSW	1	153,697,292 (GRCm39)	missense	possibly damaging	0.72
R6660:Rgsl1	UTSW	1	153,701,512 (GRCm39)	missense	possibly damaging	0.70
R6745:Rgsl1	UTSW	1	153,698,063 (GRCm39)	missense	probably benign	0.18
R6892:Rgsl1	UTSW	1	153,697,245 (GRCm39)	nonsense	probably null
R6974:Rgsl1	UTSW	1	153,675,568 (GRCm39)	missense	probably damaging	1.00
R7172:Rgsl1	UTSW	1	153,701,966 (GRCm39)	missense	possibly damaging	0.72
R7200:Rgsl1	UTSW	1	153,660,945 (GRCm39)	missense	probably benign	0.33
R7275:Rgsl1	UTSW	1	153,679,876 (GRCm39)	critical splice acceptor site	probably null
R7313:Rgsl1	UTSW	1	153,683,622 (GRCm39)	critical splice acceptor site	probably null
R7341:Rgsl1	UTSW	1	153,669,591 (GRCm39)	missense	probably benign	0.01
R7448:Rgsl1	UTSW	1	153,719,847 (GRCm39)	critical splice donor site	probably null
R7662:Rgsl1	UTSW	1	153,701,225 (GRCm39)	missense	probably benign
R7703:Rgsl1	UTSW	1	153,669,610 (GRCm39)	missense	possibly damaging	0.73
R7846:Rgsl1	UTSW	1	153,701,783 (GRCm39)	missense	possibly damaging	0.53
R8408:Rgsl1	UTSW	1	153,701,435 (GRCm39)	missense	possibly damaging	0.96
R8860:Rgsl1	UTSW	1	153,697,100 (GRCm39)	nonsense	probably null
R8894:Rgsl1	UTSW	1	153,698,119 (GRCm39)	critical splice acceptor site	probably null
R9043:Rgsl1	UTSW	1	153,717,567 (GRCm39)	missense	possibly damaging	0.73
R9187:Rgsl1	UTSW	1	153,669,613 (GRCm39)	missense	possibly damaging	0.53
R9280:Rgsl1	UTSW	1	153,669,898 (GRCm39)	missense	probably benign	0.00
R9326:Rgsl1	UTSW	1	153,679,768 (GRCm39)	missense	probably benign	0.01
R9388:Rgsl1	UTSW	1	153,693,355 (GRCm39)	missense	probably benign
R9479:Rgsl1	UTSW	1	153,657,445 (GRCm39)	missense	unknown
X0020:Rgsl1	UTSW	1	153,701,131 (GRCm39)	missense	probably benign	0.33
X0065:Rgsl1	UTSW	1	153,679,779 (GRCm39)	missense	possibly damaging	0.84
Z1177:Rgsl1	UTSW	1	153,701,734 (GRCm39)	missense	not run
Z1177:Rgsl1	UTSW	1	153,693,356 (GRCm39)	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- AAGTGACTGCCCTTACCTTG -3'
(R):5'- TGGCATATAAAGGAACGACAGCTC -3'

Sequencing Primer
(F):5'- CCTTACCTTGTAGGAACACTGGAG -3'
(R):5'- TTCCAGCTGATTCCTGCA -3'

Posted On

2016-06-15