Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01372:Rgsl1'

76187

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 #

IGL01372

Quality Score

Status

Chromosome

Chromosomal Location

153655127-153719888 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 153701887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 224 (Y224F)

Ref Sequence

ENSEMBL: ENSMUSP00000139340 (fasta)

Gene Model

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

AlphaFold

A0A5F8MPV0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000124558
AA Change: Y189F

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000135642
Gene: ENSMUSG00000042641
AA Change: Y189F

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

probably damaging
Transcript: ENSMUST00000185164
AA Change: Y224F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139340
Gene: ENSMUSG00000042641
AA Change: Y224F

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	G	A	10: 79,842,089 (GRCm39)	D1049N	probably benign	Het
Ankdd1a	A	T	9: 65,411,421 (GRCm39)	L362Q	probably damaging	Het
Ankib1	A	T	5: 3,822,594 (GRCm39)	N37K	probably damaging	Het
Ankrd55	T	A	13: 112,459,677 (GRCm39)	D90E	probably damaging	Het
Atp1a2	T	C	1: 172,106,510 (GRCm39)	R831G	probably damaging	Het
Bcar3	A	G	3: 122,316,943 (GRCm39)	D638G	probably damaging	Het
Cabp4	T	A	19: 4,189,322 (GRCm39)	E78D	probably benign	Het
Cmtm8	A	G	9: 114,619,755 (GRCm39)	V130A	possibly damaging	Het
Cyth3	A	G	5: 143,678,393 (GRCm39)	T66A	possibly damaging	Het
Dmbt1	A	T	7: 130,705,409 (GRCm39)	I1171F	possibly damaging	Het
Dnah10	G	A	5: 124,856,218 (GRCm39)	G2060D	probably damaging	Het
Dnah11	T	C	12: 118,156,134 (GRCm39)	H172R	probably damaging	Het
Dnah5	C	T	15: 28,230,636 (GRCm39)	A178V	probably benign	Het
Efcab6	T	G	15: 83,928,505 (GRCm39)	M30L	possibly damaging	Het
Ehbp1l1	T	C	19: 5,765,817 (GRCm39)		probably benign	Het
Eps15	G	A	4: 109,179,303 (GRCm39)	E230K	probably damaging	Het
Fam91a1	A	G	15: 58,301,911 (GRCm39)	I258M	probably damaging	Het
Gm5581	G	A	6: 131,145,366 (GRCm39)		noncoding transcript	Het
Hrh1	G	A	6: 114,456,958 (GRCm39)	V80I	probably damaging	Het
Ldhd	G	A	8: 112,355,032 (GRCm39)	H290Y	probably benign	Het
Lepr	G	A	4: 101,592,774 (GRCm39)	E130K	possibly damaging	Het
Mycbpap	T	C	11: 94,397,282 (GRCm39)	I40V	possibly damaging	Het
Nrap	T	A	19: 56,317,534 (GRCm39)		probably null	Het
Opn5	T	A	17: 42,891,435 (GRCm39)		probably null	Het
Or1j14	T	A	2: 36,417,463 (GRCm39)	I13N	probably benign	Het
Or5ac24	A	G	16: 59,165,524 (GRCm39)	I180T	probably damaging	Het
Otop3	A	T	11: 115,235,930 (GRCm39)	T521S	possibly damaging	Het
Pcsk5	T	G	19: 17,595,108 (GRCm39)	T409P	probably damaging	Het
Pde9a	T	A	17: 31,680,685 (GRCm39)	F322Y	probably benign	Het
Pgm5	T	A	19: 24,710,985 (GRCm39)	I406F	probably damaging	Het
Prrc2b	T	C	2: 32,113,942 (GRCm39)	S1998P	probably damaging	Het
Prune2	T	C	19: 17,102,433 (GRCm39)	Y2531H	probably damaging	Het
Ptprk	T	C	10: 28,445,923 (GRCm39)	V932A	probably benign	Het
Rapgef6	T	A	11: 54,559,437 (GRCm39)		probably benign	Het
Rps6kl1	A	T	12: 85,193,663 (GRCm39)	C143S	probably damaging	Het
S100a7l2	A	G	3: 90,995,616 (GRCm39)		probably benign	Het
Slc5a5	G	A	8: 71,343,020 (GRCm39)		probably benign	Het
Tfb2m	A	G	1: 179,369,878 (GRCm39)	S182P	probably damaging	Het
Tmc3	A	G	7: 83,261,746 (GRCm39)	H608R	probably damaging	Het
Trim37	T	A	11: 87,075,772 (GRCm39)	H459Q	probably benign	Het
Vmn2r71	A	T	7: 85,270,022 (GRCm39)		probably benign	Het
Xirp2	T	C	2: 67,344,334 (GRCm39)	S2192P	possibly damaging	Het

Other mutations in Rgsl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-10-07