Mutagenetix > Incidental Mutation

Incidental Mutation 'R8408:Rgsl1'

652513

Institutional Source

Beutler Lab

Gene Symbol

Rgsl1

Ensembl Gene

ENSMUSG00000042641

Gene Name

regulator of G-protein signaling like 1

Synonyms

4930415K13Rik, Rgsl2

MMRRC Submission

067815-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8408 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

153655127-153719888 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 153701435 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 340 (N340Y)

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: N340Y

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

SMART Domains

Protein: ENSMUSP00000135642
Gene: ENSMUSG00000042641
AA Change: N340Y

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

possibly damaging
Transcript: ENSMUST00000185164
AA Change: N375Y

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139340
Gene: ENSMUSG00000042641
AA Change: N375Y

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,236,356 (GRCm39)	T1236A	possibly damaging	Het
9930111J21Rik1	A	T	11: 48,838,829 (GRCm39)	M586K	probably damaging	Het
Adamts4	T	C	1: 171,080,314 (GRCm39)	V289A	possibly damaging	Het
Ankrd44	A	T	1: 54,762,257 (GRCm39)	D522E	probably benign	Het
Asb14	A	G	14: 26,637,067 (GRCm39)	Y603C	probably damaging	Het
Bcl7b	A	G	5: 135,197,308 (GRCm39)		probably benign	Het
Cd5	T	C	19: 10,700,469 (GRCm39)	K345R	possibly damaging	Het
Celsr3	T	C	9: 108,708,988 (GRCm39)	F1278S	probably damaging	Het
Cndp1	T	A	18: 84,650,049 (GRCm39)	T215S	possibly damaging	Het
Crygb	T	G	1: 65,119,709 (GRCm39)	R90S	probably damaging	Het
Dlg4	T	A	11: 69,933,078 (GRCm39)	F555I	possibly damaging	Het
Dnah3	C	T	7: 119,551,728 (GRCm39)	V2864M	probably damaging	Het
Dnttip2	A	G	3: 122,070,351 (GRCm39)	E522G	probably damaging	Het
Ercc4	G	C	16: 12,948,001 (GRCm39)	R406P	probably benign	Het
Foxp1	G	A	6: 98,922,543 (GRCm39)	P430S	unknown	Het
Galnt1	A	G	18: 24,400,628 (GRCm39)	T245A	probably benign	Het
Gnl2	T	A	4: 124,938,082 (GRCm39)	N287K	probably damaging	Het
Jcad	C	A	18: 4,649,402 (GRCm39)	A91E	possibly damaging	Het
Kat6a	G	A	8: 23,352,275 (GRCm39)	V20I	probably damaging	Het
Kcnb2	A	G	1: 15,781,777 (GRCm39)	N883S	probably damaging	Het
Lrch3	A	T	16: 32,775,750 (GRCm39)	R205S	probably damaging	Het
Lrr1	A	G	12: 69,215,825 (GRCm39)	T66A	probably benign	Het
Lrrc37a	T	A	11: 103,351,635 (GRCm39)	I2569F	unknown	Het
Maip1	A	T	1: 57,449,102 (GRCm39)	Q161L	probably damaging	Het
Neb	T	C	2: 52,047,923 (GRCm39)	E6699G	probably benign	Het
Nup205	A	G	6: 35,202,182 (GRCm39)	R1305G	probably damaging	Het
Or1e19	T	A	11: 73,316,794 (GRCm39)	N5I	probably damaging	Het
Or5ac21	A	T	16: 59,124,418 (GRCm39)	R301*	probably null	Het
Pate1	G	A	9: 35,596,418 (GRCm39)	R116W	probably damaging	Het
Pcsk5	T	G	19: 17,410,809 (GRCm39)	E1861A	probably benign	Het
Peg10	C	CTCA	6: 4,756,453 (GRCm39)		probably benign	Het
Per1	A	T	11: 68,999,953 (GRCm39)	D1215V	possibly damaging	Het
Phactr2	A	G	10: 13,129,570 (GRCm39)	S233P	probably damaging	Het
Pramel28	A	G	4: 143,692,212 (GRCm39)	V263A	probably benign	Het
Rhot1	C	T	11: 80,114,786 (GRCm39)	P65S	probably damaging	Het
Scrn2	T	C	11: 96,921,869 (GRCm39)	L113P	probably damaging	Het
Sema6a	T	C	18: 47,381,958 (GRCm39)	K863R	probably benign	Het
Slc15a1	A	G	14: 121,715,528 (GRCm39)	V337A	possibly damaging	Het
Slc25a1	T	C	16: 17,743,720 (GRCm39)	D298G	probably benign	Het
Slc25a22	G	A	7: 141,011,737 (GRCm39)	P168S	probably benign	Het
Slc29a4	A	T	5: 142,691,109 (GRCm39)		probably null	Het
Slc35d1	T	C	4: 103,047,007 (GRCm39)	T264A		Het
Spice1	T	C	16: 44,205,060 (GRCm39)	S789P	probably damaging	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
Tectb	T	C	19: 55,178,099 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,544,810 (GRCm39)	Y32764F	probably damaging	Het
Utrn	T	G	10: 12,545,887 (GRCm39)	S1684R	possibly damaging	Het
Zic1	G	T	9: 91,246,847 (GRCm39)	A75E	probably damaging	Het
Zswim4	A	G	8: 84,939,014 (GRCm39)	V956A	possibly 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
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
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'- TGATGAAATGCTGTAGGTCCTG -3'
(R):5'- GCCCCAAGAAGAACTGAGTC -3'

Sequencing Primer
(F):5'- ATGCTGTAGGTCCTGCCAAAG -3'
(R):5'- GAGTCTTCCAGAAAGGGTAGTTTTAC -3'

Posted On

2020-10-20