Mutagenetix > Incidental Mutation

Incidental Mutation 'R6142:Rgsl1'

488606

Institutional Source

Beutler Lab

Gene Symbol

Rgsl1

Ensembl Gene

ENSMUSG00000042641

Gene Name

regulator of G-protein signaling like 1

Synonyms

4930415K13Rik, Rgsl2

MMRRC Submission

044289-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6142 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

153655127-153719888 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 153687984 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 635 (V635A)

Ref Sequence

ENSEMBL: ENSMUSP00000135642 (fasta)

Gene Model

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

AlphaFold

A0A5F8MPV0

Predicted Effect

probably benign
Transcript: ENSMUST00000124558
AA Change: V635A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000135642
Gene: ENSMUSG00000042641
AA Change: V635A

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: ENSMUST00000141249

SMART Domains

Protein: ENSMUSP00000139215
Gene: ENSMUSG00000042641

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

Predicted Effect

probably benign
Transcript: ENSMUST00000184095

Predicted Effect

probably benign
Transcript: ENSMUST00000185164
AA Change: V670A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000139340
Gene: ENSMUSG00000042641
AA Change: V670A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206321

Meta Mutation Damage Score

0.0830

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 94.2%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy6	T	C	15: 98,496,303 (GRCm39)	M579V	probably benign	Het
Agtr1b	T	C	3: 20,370,558 (GRCm39)	D16G	probably benign	Het
Akap12	C	A	10: 4,263,740 (GRCm39)		probably null	Het
Alpk2	T	C	18: 65,438,456 (GRCm39)	E979G	possibly damaging	Het
Arfgap3	T	C	15: 83,234,328 (GRCm39)	D8G	probably damaging	Het
AW551984	G	T	9: 39,508,410 (GRCm39)	L369I	probably benign	Het
Bmp8b	A	T	4: 123,009,043 (GRCm39)	H207L	probably benign	Het
Cc2d2a	G	T	5: 43,860,540 (GRCm39)	V490F	probably damaging	Het
Cnot6l	C	T	5: 96,230,837 (GRCm39)	V377I	probably benign	Het
Col25a1	T	A	3: 130,376,978 (GRCm39)		probably benign	Het
Crocc2	C	G	1: 93,118,201 (GRCm39)	Q375E	possibly damaging	Het
Ganc	T	C	2: 120,261,218 (GRCm39)		probably null	Het
Gm28168	C	A	1: 117,875,678 (GRCm39)	D102E	probably benign	Het
Gm8212	T	C	14: 44,438,684 (GRCm39)		probably null	Het
Gria2	T	C	3: 80,709,024 (GRCm39)	T53A	probably benign	Het
Hipk4	G	A	7: 27,228,590 (GRCm39)	V347M	probably damaging	Het
Hmgxb3	T	C	18: 61,269,309 (GRCm39)	E991G	probably benign	Het
Hyal1	G	A	9: 107,456,573 (GRCm39)	R420H	probably benign	Het
Il5	G	A	11: 53,611,805 (GRCm39)		probably null	Het
Kcnh7	T	C	2: 62,569,704 (GRCm39)	I731V	possibly damaging	Het
Lamb2	A	T	9: 108,362,817 (GRCm39)	K759*	probably null	Het
Lnpep	A	G	17: 17,786,943 (GRCm39)		probably null	Het
Lrch1	T	C	14: 75,184,940 (GRCm39)	E54G	probably damaging	Het
Msl3l2	A	G	10: 55,991,461 (GRCm39)	D62G	possibly damaging	Het
Mslnl	T	C	17: 25,963,531 (GRCm39)	L339P	probably damaging	Het
Nfe2l2	T	C	2: 75,509,761 (GRCm39)	I20V	probably damaging	Het
Pgm5	A	C	19: 24,801,772 (GRCm39)	I152S	probably damaging	Het
Plcg2	C	A	8: 118,312,010 (GRCm39)	T434K	probably benign	Het
Prrc2c	T	C	1: 162,537,956 (GRCm39)	E558G	unknown	Het
Ranbp3	T	C	17: 56,993,018 (GRCm39)	V12A	probably benign	Het
Rpap2	T	C	5: 107,746,164 (GRCm39)	V14A	probably benign	Het
Rxrg	G	T	1: 167,460,191 (GRCm39)	A341S	possibly damaging	Het
Sbf2	A	G	7: 109,948,182 (GRCm39)	S1177P	probably damaging	Het
Sema6a	T	C	18: 47,414,266 (GRCm39)	T498A	probably benign	Het
Slc13a4	G	A	6: 35,278,718 (GRCm39)	A57V	probably damaging	Het
Slc6a3	A	T	13: 73,692,902 (GRCm39)	D174V	probably benign	Het
Spart	T	G	3: 55,024,669 (GRCm39)	V88G	probably damaging	Het
Tanc1	A	T	2: 59,663,566 (GRCm39)	R1108*	probably null	Het
Tas2r140	C	T	6: 133,032,698 (GRCm39)	G20E	probably damaging	Het
Tdrd6	A	G	17: 43,940,373 (GRCm39)	V225A	probably benign	Het
Tmem168	C	A	6: 13,591,368 (GRCm39)	A99S	probably benign	Het
Tnk2	T	A	16: 32,488,917 (GRCm39)	D252E	probably damaging	Het
Tpsg1	A	T	17: 25,591,460 (GRCm39)	H20L	probably benign	Het
Tram1l1	T	C	3: 124,115,092 (GRCm39)	F84S	probably damaging	Het
Vmn2r12	T	A	5: 109,240,763 (GRCm39)	I117L	probably benign	Het
Zfp148	T	C	16: 33,315,829 (GRCm39)	L219S	possibly damaging	Het
Zfp40	C	A	17: 23,395,311 (GRCm39)	E425D	probably benign	Het
Zfp773	T	C	7: 7,135,481 (GRCm39)	T372A	probably benign	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
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
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'- AGTCCCCACATAGACGGAAG -3'
(R):5'- AATGGCCTGACACAGTAGTTG -3'

Sequencing Primer
(F):5'- GTGTCTTGTTCCTATGCGTA -3'
(R):5'- GTAAGTGATGCCTGACAAATGTCCC -3'

Posted On

2017-10-10