Mutagenetix > Incidental Mutation

Incidental Mutation 'R5649:Rgsl1'

441300

Institutional Source

Beutler Lab

Gene Symbol

Rgsl1

Ensembl Gene

ENSMUSG00000042641

Gene Name

regulator of G-protein signaling like 1

Synonyms

4930415K13Rik, Rgsl2

MMRRC Submission

043170-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5649 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

153655127-153719888 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 153701639 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 272 (P272S)

Ref Sequence

ENSEMBL: ENSMUSP00000135642 (fasta)

Gene Model

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

AlphaFold

A0A5F8MPV0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000124558
AA Change: P272S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135642
Gene: ENSMUSG00000042641
AA Change: P272S

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

possibly damaging
Transcript: ENSMUST00000185164
AA Change: P307S

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139340
Gene: ENSMUSG00000042641
AA Change: P307S

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: 99.4%
3x: 98.8%
10x: 97.5%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,330,501 (GRCm39)	T1385A	probably damaging	Het
Apc2	T	A	10: 80,149,972 (GRCm39)	D1646E	probably damaging	Het
Aspm	G	A	1: 139,407,407 (GRCm39)	R2098H	probably benign	Het
Atl3	C	A	19: 7,509,592 (GRCm39)	T435N	possibly damaging	Het
Cdh22	G	T	2: 164,958,200 (GRCm39)	T589K	probably damaging	Het
Cnot3	T	C	7: 3,661,082 (GRCm39)	L561S	probably benign	Het
Col5a1	A	G	2: 27,841,468 (GRCm39)	D363G	unknown	Het
Cyp24a1	T	C	2: 170,338,229 (GRCm39)	D105G	possibly damaging	Het
Dennd4a	C	A	9: 64,758,491 (GRCm39)		probably null	Het
Dnah8	A	G	17: 31,019,561 (GRCm39)	K3878R	probably benign	Het
Dock4	T	C	12: 40,894,539 (GRCm39)	S1900P	probably benign	Het
Fancg	A	G	4: 43,008,736 (GRCm39)	L167P	probably damaging	Het
Ighd2-8	A	G	12: 113,414,487 (GRCm39)	S1P	possibly damaging	Het
Kif28	A	G	1: 179,525,336 (GRCm39)		probably null	Het
Mrpl55	T	A	11: 59,095,397 (GRCm39)	C20*	probably null	Het
Myo5a	A	G	9: 75,079,001 (GRCm39)	K920E	possibly damaging	Het
Naa35	G	A	13: 59,770,680 (GRCm39)		probably benign	Het
Olfm3	A	G	3: 114,890,573 (GRCm39)	R76G	probably damaging	Het
Or14a258	T	C	7: 86,035,521 (GRCm39)	M116V	probably damaging	Het
Or2ag1	T	C	7: 106,313,373 (GRCm39)	R172G	possibly damaging	Het
Pcdha12	A	T	18: 37,155,468 (GRCm39)	D729V	probably benign	Het
Phf11c	T	C	14: 59,622,981 (GRCm39)		probably null	Het
Phf20	T	A	2: 156,093,688 (GRCm39)		probably null	Het
Plbd1	T	A	6: 136,593,987 (GRCm39)	Y376F	probably benign	Het
Poglut1	A	G	16: 38,352,173 (GRCm39)	V257A	probably damaging	Het
Reln	A	G	5: 22,106,623 (GRCm39)	I3249T	probably benign	Het
Slc15a2	A	T	16: 36,592,472 (GRCm39)	Y197*	probably null	Het
Slc45a2	C	T	15: 11,012,693 (GRCm39)	T232I	probably benign	Het
Ssc5d	T	A	7: 4,929,517 (GRCm39)		probably null	Het
Thbs2	T	C	17: 14,910,215 (GRCm39)	Y128C	probably damaging	Het
Them4	A	T	3: 94,238,851 (GRCm39)	L219F	possibly damaging	Het
Tmem30b	G	T	12: 73,592,940 (GRCm39)	N58K	probably benign	Het
Trappc2b	T	C	11: 51,576,799 (GRCm39)	E33G	probably benign	Het
Ttc29	G	A	8: 78,972,942 (GRCm39)	E131K	possibly damaging	Het
Vmn1r29	C	G	6: 58,284,676 (GRCm39)	S132C	probably benign	Het
Vmn1r53	G	A	6: 90,200,742 (GRCm39)	A194V	probably benign	Het
Wdr86	A	T	5: 24,923,085 (GRCm39)	H202Q	probably benign	Het
Xirp2	A	G	2: 67,347,239 (GRCm39)	D3160G	probably benign	Het
Xkr5	T	C	8: 18,983,982 (GRCm39)	D520G	probably benign	Het
Zfp607b	T	G	7: 27,403,406 (GRCm39)	C621G	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
R5045:Rgsl1	UTSW	1	153,697,268 (GRCm39)	nonsense	probably null
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
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'- TGAACGCTGTCTCAAGGAAGC -3'
(R):5'- GAAGCATGCCATGGTCTGATG -3'

Sequencing Primer
(F):5'- TGTCTCAAGGAAGCCCTCC -3'
(R):5'- TCTGATGCAGGAATATGAGACTCGC -3'

Posted On

2016-11-08