Mutagenetix > Incidental Mutation

Incidental Mutation 'R4489:Rgsl1'

330616

Institutional Source

Beutler Lab

Gene Symbol

Rgsl1

Ensembl Gene

ENSMUSG00000042641

Gene Name

regulator of G-protein signaling like 1

Synonyms

4930415K13Rik, Rgsl2

MMRRC Submission

041745-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4489 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

153655127-153719888 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 153703282 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 123 (Y123F)

Ref Sequence

ENSEMBL: ENSMUSP00000135642 (fasta)

Gene Model

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

AlphaFold

A0A5F8MPV0

Predicted Effect

probably benign
Transcript: ENSMUST00000124558
AA Change: Y123F

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000135642
Gene: ENSMUSG00000042641
AA Change: Y123F

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

probably benign
Transcript: ENSMUST00000184095

Predicted Effect

probably benign
Transcript: ENSMUST00000185164
AA Change: Y158F

PolyPhen 2 Score 0.230 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000139340
Gene: ENSMUSG00000042641
AA Change: Y158F

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

94% (50/53)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	G	15: 91,062,486 (GRCm39)	V484A	probably damaging	Het
Ank3	C	T	10: 69,734,086 (GRCm39)	A754V	probably damaging	Het
Ano1	T	C	7: 144,165,479 (GRCm39)	N582S	probably benign	Het
Arnt2	T	A	7: 83,924,553 (GRCm39)	T425S	probably benign	Het
Bltp1	A	T	3: 37,058,082 (GRCm39)	Q3224L	probably null	Het
Cand2	A	G	6: 115,766,427 (GRCm39)	D344G	probably damaging	Het
Clta	T	G	4: 44,032,417 (GRCm39)	F198V	probably damaging	Het
Cnga2	T	A	X: 71,049,733 (GRCm39)	F133I	possibly damaging	Het
Csmd2	G	A	4: 128,275,738 (GRCm39)	V826M	possibly damaging	Het
Dnah11	C	T	12: 117,880,631 (GRCm39)	V3830I	probably benign	Het
Fhl4	T	C	10: 84,934,319 (GRCm39)	D154G	possibly damaging	Het
Gbp4	T	A	5: 105,269,773 (GRCm39)	T352S	probably damaging	Het
Gigyf2	A	G	1: 87,368,548 (GRCm39)	D1076G	probably damaging	Het
Gm21370	T	A	13: 120,488,378 (GRCm39)	Y57F	probably benign	Het
Gm6489	A	G	1: 31,326,320 (GRCm39)		noncoding transcript	Het
Grm6	T	C	11: 50,750,816 (GRCm39)	S660P	probably damaging	Het
Hectd4	T	G	5: 121,424,320 (GRCm39)	I660R	possibly damaging	Het
Homer3	G	A	8: 70,742,793 (GRCm39)		probably null	Het
Htr1b	A	T	9: 81,513,592 (GRCm39)	D338E	probably benign	Het
Kifbp	A	G	10: 62,398,806 (GRCm39)		probably benign	Het
Lrp1b	T	C	2: 40,551,501 (GRCm39)		probably benign	Het
Lzts1	T	A	8: 69,588,347 (GRCm39)	K536N	possibly damaging	Het
Mrpl22	T	A	11: 58,063,928 (GRCm39)	N49K	probably benign	Het
Mzt1	T	C	14: 99,273,926 (GRCm39)	*42W	probably null	Het
Nkx3-2	T	G	5: 41,919,304 (GRCm39)	Q228P	probably damaging	Het
Nufip2	T	G	11: 77,577,055 (GRCm39)	M1R	probably null	Het
Obscn	G	A	11: 58,922,417 (GRCm39)	T5921M	possibly damaging	Het
Or4c116	T	C	2: 88,941,916 (GRCm39)		probably null	Het
Or52e7	T	C	7: 104,684,510 (GRCm39)	F35S	probably benign	Het
Pcdha11	C	A	18: 37,139,969 (GRCm39)	Q533K	possibly damaging	Het
Pgm5	T	C	19: 24,793,809 (GRCm39)	E285G	probably benign	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Potefam1	A	G	2: 111,051,047 (GRCm39)	Y250H	probably benign	Het
Rgs21	T	C	1: 144,395,613 (GRCm39)	T92A	possibly damaging	Het
Rnf13	A	C	3: 57,728,010 (GRCm39)	K230T	probably damaging	Het
Sgf29	T	C	7: 126,263,110 (GRCm39)	S29P	possibly damaging	Het
Smchd1	T	C	17: 71,714,230 (GRCm39)	T878A	probably benign	Het
Specc1	T	G	11: 62,042,653 (GRCm39)		probably null	Het
Tg	A	T	15: 66,579,791 (GRCm39)	Q1532L	probably damaging	Het
Timm44	A	C	8: 4,316,654 (GRCm39)	S297A	possibly damaging	Het
Txndc9	G	T	1: 38,034,871 (GRCm39)	S11*	probably null	Het
Uggt1	C	T	1: 36,185,749 (GRCm39)	W1478*	probably null	Het
Washc3	T	C	10: 88,051,893 (GRCm39)	V87A	probably benign	Het
Xlr5b	T	C	X: 72,201,504 (GRCm39)		probably null	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
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
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'- CAAAGGATGGGCGTTACCAG -3'
(R):5'- GGGACTTTCTGGAGATGCAATC -3'

Sequencing Primer
(F):5'- ATGGGCGTTACCAGCTACC -3'
(R):5'- CAATCTTAACTGGAAGTTGGCTAGCG -3'

Posted On

2015-07-21