Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02797:Rgsl1'

359987

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rgsl1

Ensembl Gene

ENSMUSG00000042641

Gene Name

regulator of G-protein signaling like 1

Synonyms

Rgsl2, 4930415K13Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02797

Quality Score

Status

Chromosome

Chromosomal Location

153779381-153844142 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 153807708 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 19 (T19A)

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: T699A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000135642
Gene: ENSMUSG00000042641
AA Change: T699A

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: T19A

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

SMART Domains

Protein: ENSMUSP00000139215
Gene: ENSMUSG00000042641
AA Change: T19A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000184095

Predicted Effect

possibly damaging
Transcript: ENSMUST00000185164
AA Change: T734A

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139340
Gene: ENSMUSG00000042641
AA Change: T734A

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	G	16: 20,368,464	M924T	probably benign	Het
B3gat2	A	G	1: 23,815,279	Y218C	probably damaging	Het
Bcs1l	T	C	1: 74,590,461		probably null	Het
C77080	C	T	4: 129,223,311	R565H	probably damaging	Het
Cd109	T	A	9: 78,661,713	I358N	probably damaging	Het
Cd276	T	C	9: 58,537,436	D84G	possibly damaging	Het
Chsy1	T	C	7: 66,171,664	F549S	probably damaging	Het
Clca2	T	C	3: 145,081,263	N549S	probably benign	Het
Cma1	A	G	14: 55,943,814	S32P	possibly damaging	Het
Col23a1	G	A	11: 51,561,916		probably null	Het
Ctps	A	T	4: 120,562,824	I131K	probably benign	Het
Cyp2w1	T	C	5: 139,356,873	L441P	probably damaging	Het
Dnajc21	A	G	15: 10,461,355	Y170H	probably damaging	Het
Eif3a	A	T	19: 60,772,726	L648Q	probably damaging	Het
Eif3l	T	A	15: 79,075,277	D6E	probably benign	Het
Fam228a	A	T	12: 4,731,484	L125Q	probably damaging	Het
Foxa2	A	G	2: 148,044,125	C263R	possibly damaging	Het
Gm17455	A	G	10: 60,403,328	E124G	possibly damaging	Het
Gm8882	T	A	6: 132,363,045		probably null	Het
Gpc6	T	G	14: 116,925,982	L16R	probably damaging	Het
Hdac9	A	G	12: 34,393,274		probably benign	Het
Herc3	A	G	6: 58,868,694	N400S	probably benign	Het
Herc4	G	A	10: 63,316,807		probably null	Het
Il12b	A	G	11: 44,410,353		probably null	Het
Lama4	A	G	10: 39,056,924	R599G	probably null	Het
Lrp1b	T	A	2: 41,671,057	E286V		Het
Mink1	C	T	11: 70,610,350	P784S	probably damaging	Het
Musk	T	C	4: 58,366,921	F513S	probably benign	Het
Nfasc	T	A	1: 132,610,448	D474V	probably damaging	Het
Nos2	T	G	11: 78,940,344	F420V	probably damaging	Het
Olfr597	A	T	7: 103,320,851	I147L	probably benign	Het
Pcdhb14	A	G	18: 37,449,851	Y670C	probably damaging	Het
Polr1b	A	G	2: 129,102,979	E65G	probably damaging	Het
Ppp1r10	T	G	17: 35,928,012		probably null	Het
Prag1	C	T	8: 36,139,501	R799C	probably damaging	Het
Ptch1	T	C	13: 63,533,607	N485S	probably benign	Het
Sgpl1	A	C	10: 61,101,728	S507A	probably benign	Het
Sgpp2	A	G	1: 78,417,182	D274G	probably benign	Het
Skap1	A	G	11: 96,713,017	D211G	possibly damaging	Het
Smc3	A	G	19: 53,638,758	T830A	probably benign	Het
Smpd2	G	A	10: 41,488,078	T215I	possibly damaging	Het
Sntg2	T	G	12: 30,226,892	Y387S	possibly damaging	Het
Sorl1	T	G	9: 42,037,059	D810A	probably damaging	Het
Spata5	A	G	3: 37,458,316		probably benign	Het
Spop	T	A	11: 95,482,083	I217N	probably damaging	Het
Stac2	T	C	11: 98,043,519	R120G	possibly damaging	Het
Stau1	A	T	2: 166,949,346	*496R	probably null	Het
Tmeff2	C	T	1: 50,928,047	R34C	probably damaging	Het
Treml2	C	T	17: 48,302,711	A57V	possibly damaging	Het
Vmn2r15	T	C	5: 109,297,384	D58G	probably benign	Het
Vmn2r7	T	C	3: 64,691,245	I721M	possibly damaging	Het
Vmn2r70	C	A	7: 85,559,087	M727I	probably benign	Het
Vwa8	T	A	14: 78,925,262	C161S	probably benign	Het

Other mutations in Rgsl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01372:Rgsl1	APN	1	153826141	missense	probably damaging	1.00
IGL02253:Rgsl1	APN	1	153793767	missense	probably damaging	1.00
IGL02345:Rgsl1	APN	1	153804009	splice site	probably null
IGL02409:Rgsl1	APN	1	153826243	missense	possibly damaging	0.53
IGL02587:Rgsl1	APN	1	153799938	missense	probably damaging	1.00
IGL02652:Rgsl1	APN	1	153825490	missense	probably damaging	1.00
IGL03032:Rgsl1	APN	1	153826202	missense	possibly damaging	0.53
IGL03082:Rgsl1	APN	1	153799947	missense	possibly damaging	0.86
IGL03123:Rgsl1	APN	1	153825941	missense	probably damaging	1.00
IGL03213:Rgsl1	APN	1	153825841	missense	probably benign	0.12
IGL03410:Rgsl1	APN	1	153793755	missense	probably null	0.82
Bam	UTSW	1	153794152	missense	probably benign	0.00
Candygram	UTSW	1	153821499	nonsense	probably null
wham	UTSW	1	153802292	missense	probably benign	0.02
IGL03050:Rgsl1	UTSW	1	153825676	missense	possibly damaging	0.60
PIT4519001:Rgsl1	UTSW	1	153825970	missense	possibly damaging	0.96
R0149:Rgsl1	UTSW	1	153793764	missense	probably damaging	1.00
R0536:Rgsl1	UTSW	1	153826181	missense	probably damaging	1.00
R0633:Rgsl1	UTSW	1	153844107	missense	possibly damaging	0.72
R0726:Rgsl1	UTSW	1	153802328	missense	probably damaging	1.00
R0839:Rgsl1	UTSW	1	153802234	critical splice donor site	probably null
R1240:Rgsl1	UTSW	1	153785191	missense	probably benign	0.18
R1355:Rgsl1	UTSW	1	153807761	start codon destroyed	probably null	0.23
R1491:Rgsl1	UTSW	1	153825926	missense	possibly damaging	0.93
R1688:Rgsl1	UTSW	1	153804676	missense	probably damaging	0.98
R1694:Rgsl1	UTSW	1	153804676	missense	probably damaging	0.98
R1842:Rgsl1	UTSW	1	153799797	missense	probably damaging	1.00
R2008:Rgsl1	UTSW	1	153825905	missense	possibly damaging	0.53
R2114:Rgsl1	UTSW	1	153817549	missense	probably benign
R2116:Rgsl1	UTSW	1	153817549	missense	probably benign
R2176:Rgsl1	UTSW	1	153825268	splice site	probably benign
R2229:Rgsl1	UTSW	1	153822358	missense	possibly damaging	0.72
R2895:Rgsl1	UTSW	1	153827548	missense	probably damaging	1.00
R3923:Rgsl1	UTSW	1	153804130	critical splice acceptor site	probably null
R4001:Rgsl1	UTSW	1	153817584	missense	probably damaging	1.00
R4434:Rgsl1	UTSW	1	153802341	missense	possibly damaging	0.52
R4489:Rgsl1	UTSW	1	153827536	missense	probably benign	0.27
R4649:Rgsl1	UTSW	1	153817582	missense	probably benign	0.01
R4925:Rgsl1	UTSW	1	153812277	missense	probably benign	0.01
R4928:Rgsl1	UTSW	1	153793768	missense	probably damaging	1.00
R5045:Rgsl1	UTSW	1	153821522	nonsense	probably null
R5304:Rgsl1	UTSW	1	153827492	missense	probably damaging	0.97
R5331:Rgsl1	UTSW	1	153802292	missense	probably benign	0.02
R5373:Rgsl1	UTSW	1	153790307	missense	probably benign	0.33
R5374:Rgsl1	UTSW	1	153790307	missense	probably benign	0.33
R5566:Rgsl1	UTSW	1	153793774	missense	probably damaging	1.00
R5649:Rgsl1	UTSW	1	153825893	missense	possibly damaging	0.93
R6062:Rgsl1	UTSW	1	153799872	missense	possibly damaging	0.72
R6142:Rgsl1	UTSW	1	153812238	missense	probably benign	0.01
R6158:Rgsl1	UTSW	1	153804021	missense	possibly damaging	0.72
R6184:Rgsl1	UTSW	1	153827448	missense	probably benign	0.08
R6273:Rgsl1	UTSW	1	153827465	missense	possibly damaging	0.96
R6384:Rgsl1	UTSW	1	153827545	missense	possibly damaging	0.86
R6419:Rgsl1	UTSW	1	153822371	missense	probably damaging	0.98
R6568:Rgsl1	UTSW	1	153821546	missense	possibly damaging	0.72
R6660:Rgsl1	UTSW	1	153825766	missense	possibly damaging	0.70
R6745:Rgsl1	UTSW	1	153822317	missense	probably benign	0.18
R6892:Rgsl1	UTSW	1	153821499	nonsense	probably null
R6974:Rgsl1	UTSW	1	153799822	missense	probably damaging	1.00
R7172:Rgsl1	UTSW	1	153826220	missense	possibly damaging	0.72
R7200:Rgsl1	UTSW	1	153785199	missense	probably benign	0.33
R7275:Rgsl1	UTSW	1	153804130	critical splice acceptor site	probably null
R7313:Rgsl1	UTSW	1	153807876	critical splice acceptor site	probably null
R7341:Rgsl1	UTSW	1	153793845	missense	probably benign	0.01
R7448:Rgsl1	UTSW	1	153844101	critical splice donor site	probably null
R7662:Rgsl1	UTSW	1	153825479	missense	probably benign
R7703:Rgsl1	UTSW	1	153793864	missense	possibly damaging	0.73
R7846:Rgsl1	UTSW	1	153826037	missense	possibly damaging	0.53
R8408:Rgsl1	UTSW	1	153825689	missense	possibly damaging	0.96
R8860:Rgsl1	UTSW	1	153821354	nonsense	probably null
R8894:Rgsl1	UTSW	1	153822373	critical splice acceptor site	probably null
R9043:Rgsl1	UTSW	1	153841821	missense	possibly damaging	0.73
R9187:Rgsl1	UTSW	1	153793867	missense	possibly damaging	0.53
R9280:Rgsl1	UTSW	1	153794152	missense	probably benign	0.00
R9326:Rgsl1	UTSW	1	153804022	missense	probably benign	0.01
R9388:Rgsl1	UTSW	1	153817609	missense	probably benign
R9479:Rgsl1	UTSW	1	153781699	missense	unknown
X0020:Rgsl1	UTSW	1	153825385	missense	probably benign	0.33
X0065:Rgsl1	UTSW	1	153804033	missense	possibly damaging	0.84
Z1177:Rgsl1	UTSW	1	153817610	missense	possibly damaging	0.70
Z1177:Rgsl1	UTSW	1	153825988	missense	not run

Posted On

2015-12-18