Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02253:Rgsl1'

286506

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rgsl1

Ensembl Gene

ENSMUSG00000042641

Gene Name

regulator of G-protein signaling like 1

Synonyms

4930415K13Rik, Rgsl2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02253

Quality Score

Status

Chromosome

Chromosomal Location

153655127-153719888 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 153669513 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 291 (Y291C)

Ref Sequence

ENSEMBL: ENSMUSP00000139215 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000124558] [ENSMUST00000141249] [ENSMUST00000185164]

AlphaFold

A0A5F8MPV0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000124558
AA Change: Y971C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135642
Gene: ENSMUSG00000042641
AA Change: Y971C

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 damaging
Transcript: ENSMUST00000141249
AA Change: Y291C

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

SMART Domains

Protein: ENSMUSP00000139215
Gene: ENSMUSG00000042641
AA Change: Y291C

Domain	Start	End	E-Value	Type
Blast:RGS	3	300	3e-30	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145308

Predicted Effect

probably benign
Transcript: ENSMUST00000184095

Predicted Effect

probably benign
Transcript: ENSMUST00000185164

SMART Domains

Protein: ENSMUSP00000139340
Gene: ENSMUSG00000042641

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,807,182 (GRCm39)	E76G	probably benign	Het
Adamtsl2	A	T	2: 26,988,709 (GRCm39)	T587S	possibly damaging	Het
Adgre4	T	A	17: 56,067,573 (GRCm39)	M9K	probably benign	Het
Aff2	T	A	X: 68,874,397 (GRCm39)	V447E	probably benign	Het
Arhgef10l	G	T	4: 140,271,595 (GRCm39)	S425*	probably null	Het
Cabcoco1	T	C	10: 68,272,107 (GRCm39)		probably null	Het
Calcr	T	A	6: 3,707,523 (GRCm39)	H259L	probably benign	Het
Cdc42bpa	T	A	1: 179,859,161 (GRCm39)		probably benign	Het
Cntnap5b	C	T	1: 100,091,936 (GRCm39)	H540Y	possibly damaging	Het
Cyp2a22	A	T	7: 26,637,662 (GRCm39)		probably benign	Het
Ddx3x	T	C	X: 13,151,207 (GRCm39)		probably benign	Het
Dnajc11	T	A	4: 152,034,976 (GRCm39)	Y28*	probably null	Het
Dock11	T	C	X: 35,304,781 (GRCm39)	F1472S	probably damaging	Het
Dusp18	T	C	11: 3,847,576 (GRCm39)	*189Q	probably null	Het
Dzip3	A	T	16: 48,765,287 (GRCm39)	Y476N	probably benign	Het
Efr3b	C	T	12: 4,033,391 (GRCm39)	V139I	probably benign	Het
Evc2	T	A	5: 37,535,771 (GRCm39)		probably benign	Het
Fam151b	A	T	13: 92,614,435 (GRCm39)	Y18N	probably damaging	Het
Gk5	T	C	9: 96,019,824 (GRCm39)	F120S	probably damaging	Het
Itprid2	A	G	2: 79,490,788 (GRCm39)	T969A	probably damaging	Het
Kcna3	T	C	3: 106,944,727 (GRCm39)	L330P	probably damaging	Het
Kctd20	A	G	17: 29,180,460 (GRCm39)	N7S	probably benign	Het
Kmt2b	G	T	7: 30,281,152 (GRCm39)	R1276S	probably damaging	Het
Kmt2d	C	T	15: 98,756,056 (GRCm39)		probably benign	Het
L2hgdh	G	A	12: 69,752,534 (GRCm39)		probably benign	Het
Lifr	T	G	15: 7,220,085 (GRCm39)	V905G	probably damaging	Het
Mcm3ap	T	A	10: 76,305,899 (GRCm39)	V4E	probably benign	Het
Nrip3	A	C	7: 109,360,951 (GRCm39)		probably null	Het
Nsun2	T	G	13: 69,767,658 (GRCm39)	V204G	possibly damaging	Het
Nup54	A	G	5: 92,565,310 (GRCm39)		probably null	Het
Or5p69	T	A	7: 107,967,261 (GRCm39)	V188E	possibly damaging	Het
Or8c16	T	A	9: 38,131,031 (GRCm39)	M304K	probably benign	Het
Pdcl3	A	G	1: 39,034,011 (GRCm39)	D51G	probably benign	Het
Pdlim1	T	C	19: 40,218,974 (GRCm39)	E219G	probably damaging	Het
Pld4	A	C	12: 112,733,141 (GRCm39)	K239T	probably damaging	Het
Rnf213	C	A	11: 119,331,476 (GRCm39)	H2228Q	probably benign	Het
Rnf222	T	A	11: 68,783,862 (GRCm39)	I143N	probably damaging	Het
Sirt7	A	G	11: 120,511,693 (GRCm39)	I13T	probably benign	Het
Slfn10-ps	A	G	11: 82,919,890 (GRCm39)		noncoding transcript	Het
Slx4ip	T	C	2: 136,842,195 (GRCm39)		probably null	Het
Spata18	G	T	5: 73,825,939 (GRCm39)	S164I	possibly damaging	Het
Spmip2	C	A	3: 79,356,741 (GRCm39)		probably benign	Het
Spmip2	C	A	3: 79,356,742 (GRCm39)		probably benign	Het
Stk26	T	C	X: 49,975,565 (GRCm39)	L212P	probably damaging	Het
Tmsb15a	T	C	X: 134,620,451 (GRCm39)	I56V	probably benign	Het
Tnrc6b	T	A	15: 80,760,742 (GRCm39)	S150T	probably damaging	Het
Tubb3	T	C	8: 124,147,559 (GRCm39)	M164T	probably benign	Het
Zfp516	A	G	18: 83,012,622 (GRCm39)	D1125G	probably benign	Het
Zyg11a	A	C	4: 108,040,892 (GRCm39)	V685G	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
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
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

Posted On

2015-04-16