Mutagenetix > Incidental Mutation

Incidental Mutation 'R2114:Rgsl1'

232875

Institutional Source

Beutler Lab

Gene Symbol

Rgsl1

Ensembl Gene

ENSMUSG00000042641

Gene Name

regulator of G-protein signaling like 1

Synonyms

4930415K13Rik, Rgsl2

MMRRC Submission

040118-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2114 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

153655127-153719888 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 153693295 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 629 (M629L)

Ref Sequence

ENSEMBL: ENSMUSP00000139340 (fasta)

Gene Model

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

AlphaFold

A0A5F8MPV0

Predicted Effect

probably benign
Transcript: ENSMUST00000124558
AA Change: M594L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000135642
Gene: ENSMUSG00000042641
AA Change: M594L

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 benign
Transcript: ENSMUST00000185164
AA Change: M629L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000139340
Gene: ENSMUSG00000042641
AA Change: M629L

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

1x: 99.1%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
a	A	G	2: 154,889,649 (GRCm39)	R72G	probably benign	Het
Adgrb1	T	A	15: 74,412,411 (GRCm39)		probably null	Het
Akr1b7	G	A	6: 34,395,929 (GRCm39)	A144T	possibly damaging	Het
Anapc5	C	T	5: 122,926,001 (GRCm39)	V685I	probably benign	Het
Apba3	T	C	10: 81,108,946 (GRCm39)	Y570H	probably damaging	Het
Arf5	C	T	6: 28,424,783 (GRCm39)	Q71*	probably null	Het
Arl15	C	T	13: 114,104,196 (GRCm39)	S111F	probably damaging	Het
Ash1l	C	T	3: 88,890,571 (GRCm39)	L817F	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Blvra	G	T	2: 126,927,989 (GRCm39)	E80*	probably null	Het
Bmp10	A	C	6: 87,411,441 (GRCm39)	E411D	probably benign	Het
Ccdc148	T	C	2: 58,892,128 (GRCm39)	E188G	probably damaging	Het
Ces1a	A	G	8: 93,766,179 (GRCm39)	L145P	possibly damaging	Het
Chsy3	G	A	18: 59,312,561 (GRCm39)	V345I	probably damaging	Het
Ckmt2	T	A	13: 92,003,964 (GRCm39)	I345F	probably benign	Het
Col5a2	T	A	1: 45,415,964 (GRCm39)	E1394D	probably damaging	Het
Dnah6	T	C	6: 73,121,018 (GRCm39)	N1492S	probably damaging	Het
Dock3	T	C	9: 106,870,743 (GRCm39)	N557S	probably benign	Het
Edem2	G	A	2: 155,544,479 (GRCm39)	R424C	probably damaging	Het
Exoc4	T	A	6: 33,324,760 (GRCm39)	N351K	possibly damaging	Het
Eya1	A	T	1: 14,340,998 (GRCm39)	F163I	probably damaging	Het
Ezh1	A	C	11: 101,099,011 (GRCm39)	S290A	probably benign	Het
Fam83f	T	G	15: 80,576,468 (GRCm39)	V373G	possibly damaging	Het
Fam83h	A	T	15: 75,874,146 (GRCm39)	Y1064N	probably damaging	Het
Fat4	A	T	3: 39,035,633 (GRCm39)	H3095L	probably benign	Het
Fbxo38	A	C	18: 62,639,711 (GRCm39)	I1051S	possibly damaging	Het
Galnt6	G	C	15: 100,612,122 (GRCm39)	C173W	probably damaging	Het
Gcc2	T	A	10: 58,105,362 (GRCm39)	C99*	probably null	Het
Gcn1	A	T	5: 115,736,884 (GRCm39)	M1276L	probably benign	Het
Gm266	T	G	12: 111,452,116 (GRCm39)	Q30P	possibly damaging	Het
Gsdma	A	T	11: 98,563,838 (GRCm39)	E264V	probably damaging	Het
Ift74	A	G	4: 94,515,496 (GRCm39)	T138A	probably benign	Het
Ikzf1	T	G	11: 11,719,473 (GRCm39)	H480Q	probably damaging	Het
Ints14	T	G	9: 64,887,077 (GRCm39)	L336R	probably damaging	Het
Irak1	G	T	X: 73,066,218 (GRCm39)	P197Q	possibly damaging	Het
Kcna6	A	G	6: 126,716,322 (GRCm39)	V189A	possibly damaging	Het
Kcnh4	A	G	11: 100,650,421 (GRCm39)	M4T	probably damaging	Het
Kif4	A	G	X: 99,709,323 (GRCm39)	S315G	probably benign	Het
L3mbtl1	T	A	2: 162,801,990 (GRCm39)		probably null	Het
Lrwd1	T	A	5: 136,159,332 (GRCm39)	Y431F	probably damaging	Het
Madd	A	G	2: 90,994,367 (GRCm39)	V884A	probably damaging	Het
Maz	C	A	7: 126,624,677 (GRCm39)	C281F	probably damaging	Het
Mb	G	T	15: 76,906,759 (GRCm39)	Q9K	probably benign	Het
Mllt10	A	G	2: 18,167,380 (GRCm39)	N435S	probably benign	Het
Mrm3	T	C	11: 76,135,347 (GRCm39)	M186T	possibly damaging	Het
Naprt	T	C	15: 75,763,637 (GRCm39)	Y395C	probably damaging	Het
Nccrp1	T	A	7: 28,246,334 (GRCm39)	Q76L	probably benign	Het
Nlgn1	T	A	3: 26,187,414 (GRCm39)	N157I	probably damaging	Het
Nmi	T	C	2: 51,838,719 (GRCm39)	T272A	probably benign	Het
Obscn	C	T	11: 59,022,484 (GRCm39)	V754M	probably damaging	Het
Pcdhb12	A	G	18: 37,569,265 (GRCm39)	E137G	probably damaging	Het
Pdk2	A	G	11: 94,918,088 (GRCm39)	Y382H	probably damaging	Het
Phka1	C	T	X: 101,653,807 (GRCm39)	R290H	probably damaging	Het
Pick1	T	A	15: 79,139,781 (GRCm39)		probably benign	Het
Pik3r2	T	C	8: 71,222,029 (GRCm39)	I585V	probably benign	Het
Pitrm1	A	T	13: 6,607,809 (GRCm39)	Y268F	probably damaging	Het
Polr2b	G	A	5: 77,468,817 (GRCm39)	E198K	probably damaging	Het
Prelid3b	T	C	2: 174,311,243 (GRCm39)	N9D	probably damaging	Het
Prex2	T	A	1: 11,256,937 (GRCm39)	N1216K	probably damaging	Het
Prkab2	A	T	3: 97,574,711 (GRCm39)	M236L	possibly damaging	Het
Prkar2b	T	A	12: 32,017,279 (GRCm39)	N257I	probably damaging	Het
Prkcd	A	G	14: 30,327,808 (GRCm39)	C208R	probably damaging	Het
Prkch	T	A	12: 73,749,290 (GRCm39)	S347T	probably benign	Het
Prr12	A	G	7: 44,695,506 (GRCm39)	V1320A	unknown	Het
Ptk2	A	G	15: 73,114,255 (GRCm39)	V701A	possibly damaging	Het
Ptpra	G	T	2: 130,381,655 (GRCm39)	R372L	probably damaging	Het
Ptx3	T	A	3: 66,132,187 (GRCm39)	I236N	probably damaging	Het
Ralgapa1	T	C	12: 55,833,134 (GRCm39)		probably null	Het
Rgr	T	A	14: 36,760,809 (GRCm39)		probably null	Het
Rgs7	T	A	1: 174,918,639 (GRCm39)	N235I	probably damaging	Het
Rpgrip1	A	T	14: 52,387,024 (GRCm39)	E781V	probably benign	Het
Rrh	T	C	3: 129,604,336 (GRCm39)	I288M	probably damaging	Het
Rtf1	T	A	2: 119,535,999 (GRCm39)	H184Q	probably benign	Het
Rusc1	T	C	3: 88,999,014 (GRCm39)	D256G	probably benign	Het
Scap	T	C	9: 110,210,341 (GRCm39)	Y917H	probably damaging	Het
Scn9a	T	C	2: 66,314,396 (GRCm39)	E1774G	probably damaging	Het
Sec11c	A	T	18: 65,933,720 (GRCm39)	T9S	probably benign	Het
Slc24a2	C	T	4: 86,909,592 (GRCm39)	V664I	probably benign	Het
Stim2	A	G	5: 54,261,819 (GRCm39)	Q237R	probably damaging	Het
Synpo2	T	A	3: 122,873,537 (GRCm39)	H1143L	probably benign	Het
Syt4	A	G	18: 31,573,520 (GRCm39)	Y332H	probably damaging	Het
Tcf23	G	A	5: 31,130,919 (GRCm39)	D186N	probably benign	Het
Tcf3	C	A	10: 80,246,040 (GRCm39)	G628W	probably damaging	Het
Tcof1	T	C	18: 60,965,857 (GRCm39)	E415G	possibly damaging	Het
Tlr5	T	C	1: 182,803,194 (GRCm39)	W833R	probably damaging	Het
Tmem132b	A	G	5: 125,699,615 (GRCm39)	E92G	probably damaging	Het
Ttn	A	T	2: 76,577,352 (GRCm39)	S24514T	probably damaging	Het
Txndc16	T	C	14: 45,382,484 (GRCm39)	E587G	probably benign	Het
Ubr4	A	T	4: 139,156,922 (GRCm39)	K2316*	probably null	Het
Usp20	T	A	2: 30,906,317 (GRCm39)	C562S	probably damaging	Het
Vat1	A	T	11: 101,356,568 (GRCm39)	V131E	probably damaging	Het
Vgll1	A	C	X: 56,137,790 (GRCm39)	K53T	probably damaging	Het
Zfp1005	T	A	2: 150,109,819 (GRCm39)	C170S	unknown	Het
Zfp592	G	A	7: 80,674,544 (GRCm39)	V503M	probably damaging	Het
Zfp786	A	G	6: 47,803,931 (GRCm39)	V37A	probably damaging	Het
Zscan30	A	G	18: 24,104,173 (GRCm39)		noncoding transcript	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
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

Predicted Primers

PCR Primer
(F):5'- ACCTTTGATTCTAGGAAACTTGGC -3'
(R):5'- GGAAACCTAACCCAGTCTAGAGTG -3'

Sequencing Primer
(F):5'- TTGATTCTAGGAAACTTGGCAGAAG -3'
(R):5'- AGAGTGGAGGGGAATCTATGTTTCC -3'

Posted On

2014-09-18