Mutagenetix > Incidental Mutation

Incidental Mutation 'R4797:Rsu1'

369108

Institutional Source

Beutler Lab

Gene Symbol

Rsu1

Ensembl Gene

ENSMUSG00000026727

Gene Name

Ras suppressor protein 1

Synonyms

RsuI, rsp-1

MMRRC Submission

042421-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.183) question?

Stock #

R4797 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13081778-13276255 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 13221537 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141763 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028059] [ENSMUST00000114791] [ENSMUST00000134551] [ENSMUST00000137670] [ENSMUST00000191959]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000028059

SMART Domains

Protein: ENSMUSP00000028059
Gene: ENSMUSG00000026727

Domain	Start	End	E-Value	Type
LRR	39	61	1.12e1	SMART
LRR	62	84	5.26e0	SMART
LRR	85	107	2.17e-1	SMART
LRR	108	132	3.65e1	SMART
LRR	133	155	1.37e1	SMART
LRR	156	177	1.71e1	SMART
LRR_TYP	179	202	8.34e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114791

SMART Domains

Protein: ENSMUSP00000110439
Gene: ENSMUSG00000026727

Domain	Start	End	E-Value	Type
Blast:CUB	1	36	6e-13	BLAST
LRR	45	67	5.26e0	SMART
LRR	68	90	2.17e-1	SMART
LRR	91	115	3.65e1	SMART
LRR	116	138	1.37e1	SMART
LRR	139	160	1.71e1	SMART
LRR_TYP	162	185	8.34e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131226

Predicted Effect

probably benign
Transcript: ENSMUST00000134551

SMART Domains

Protein: ENSMUSP00000125338
Gene: ENSMUSG00000026727

Domain	Start	End	E-Value	Type
Blast:CUB	1	44	3e-21	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000137670

SMART Domains

Protein: ENSMUSP00000117460
Gene: ENSMUSG00000026727

Domain	Start	End	E-Value	Type
LRR	39	61	1.12e1	SMART
LRR	62	85	2.49e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161912

SMART Domains

Protein: ENSMUSP00000125279
Gene: ENSMUSG00000026727

Domain	Start	End	E-Value	Type
Blast:CUB	1	38	7e-17	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162223

Predicted Effect

probably benign
Transcript: ENSMUST00000191959

SMART Domains

Protein: ENSMUSP00000141763
Gene: ENSMUSG00000026727

Domain	Start	End	E-Value	Type
Blast:CUB	1	36	2e-15	BLAST

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

96% (69/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is involved in the Ras signal transduction pathway, growth inhibition, and nerve-growth factor induced differentiation processes, as determined in mouse and human cell line studies. In mouse, the encoded protein was initially isolated based on its ability to inhibit v-Ras transformation. Multiple alternatively spliced transcript variants for this gene have been reported; one of these variants was found only in glioma tumors. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,008,945 (GRCm39)	T1195A	probably benign	Het
Apobr	G	A	7: 126,186,756 (GRCm39)	E756K	probably benign	Het
Arpc3	A	G	5: 122,542,215 (GRCm39)	E77G	possibly damaging	Het
Atp2b2	A	T	6: 113,766,847 (GRCm39)	M464K	possibly damaging	Het
Atxn7l2	A	G	3: 108,111,866 (GRCm39)	S379P	probably damaging	Het
Ccdc91	A	T	6: 147,493,641 (GRCm39)	E344D	unknown	Het
Cdc42bpg	G	A	19: 6,370,477 (GRCm39)	R1190Q	probably damaging	Het
Cdh17	C	A	4: 11,810,390 (GRCm39)	Q694K	probably benign	Het
Chordc1	G	T	9: 18,203,672 (GRCm39)		probably benign	Het
Copg1	A	G	6: 87,880,450 (GRCm39)		probably benign	Het
Dcbld1	T	C	10: 52,160,223 (GRCm39)	V37A	probably damaging	Het
Ddb2	A	G	2: 91,067,163 (GRCm39)		probably benign	Het
Dok5	A	T	2: 170,672,042 (GRCm39)	R115*	probably null	Het
Drc7	T	C	8: 95,800,925 (GRCm39)	I649T	probably damaging	Het
Efr3a	A	G	15: 65,729,437 (GRCm39)	T713A	probably damaging	Het
Epg5	G	A	18: 78,073,614 (GRCm39)	D2494N	probably benign	Het
Eps15	G	A	4: 109,223,727 (GRCm39)		probably benign	Het
Glb1l3	T	C	9: 26,739,742 (GRCm39)	D356G	probably damaging	Het
Gm1818	A	T	12: 48,602,393 (GRCm39)		noncoding transcript	Het
Gsta5	A	T	9: 78,211,679 (GRCm39)	Y147F	probably benign	Het
Hcrtr2	C	A	9: 76,161,816 (GRCm39)	M191I	probably damaging	Het
Heatr1	G	A	13: 12,426,929 (GRCm39)	E685K	probably benign	Het
Hsd3b2	A	T	3: 98,618,979 (GRCm39)	L322Q	probably damaging	Het
Hsd3b9	T	A	3: 98,363,747 (GRCm39)	R62*	probably null	Het
Htra4	T	C	8: 25,523,675 (GRCm39)	T297A	probably damaging	Het
Il22	C	A	10: 118,041,058 (GRCm39)	R55S	probably damaging	Het
Ints1	G	A	5: 139,757,631 (GRCm39)	T324M	possibly damaging	Het
Ints15	A	G	5: 143,297,504 (GRCm39)	F181S	probably benign	Het
Ints7	T	C	1: 191,329,045 (GRCm39)	V268A	probably damaging	Het
Kctd20	G	A	17: 29,185,766 (GRCm39)	V370I	probably damaging	Het
Lama1	T	A	17: 68,023,770 (GRCm39)	M55K	probably benign	Het
Larp1	C	A	11: 57,938,806 (GRCm39)	S494*	probably null	Het
Ldb3	A	T	14: 34,277,470 (GRCm39)	H262Q	possibly damaging	Het
Lepr	C	A	4: 101,637,244 (GRCm39)	T711K	possibly damaging	Het
Mon2	T	C	10: 122,852,422 (GRCm39)	I984V	probably benign	Het
Naip2	T	A	13: 100,298,243 (GRCm39)	S598C	probably damaging	Het
Oasl1	A	G	5: 115,066,217 (GRCm39)	M112V	probably benign	Het
Or2d2b	A	T	7: 106,705,234 (GRCm39)	M278K	probably benign	Het
Or6c214	A	T	10: 129,590,390 (GRCm39)	S310T	probably benign	Het
Or7c19	G	T	8: 85,957,567 (GRCm39)	A148S	probably benign	Het
P2ry1	T	A	3: 60,910,881 (GRCm39)	S7T	probably benign	Het
Pidd1	G	T	7: 141,022,899 (GRCm39)	R98S	possibly damaging	Het
Pkd1l1	A	C	11: 8,911,340 (GRCm39)	F312L	unknown	Het
Pla2r1	A	T	2: 60,334,524 (GRCm39)	M416K	possibly damaging	Het
Pold1	T	C	7: 44,191,325 (GRCm39)	E194G	possibly damaging	Het
Poldip2	T	A	11: 78,404,813 (GRCm39)	Y77N	probably damaging	Het
Ppp2r3d	G	T	9: 101,089,179 (GRCm39)	N381K	probably benign	Het
Prrc2a	G	A	17: 35,369,018 (GRCm39)	P2006L	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Selenoi	T	A	5: 30,457,740 (GRCm39)	W90R	probably damaging	Het
Spag17	T	A	3: 99,891,795 (GRCm39)	D216E	possibly damaging	Het
Spata31	C	A	13: 65,070,556 (GRCm39)	Y901*	probably null	Het
Ssrp1	T	A	2: 84,876,066 (GRCm39)	Y607*	probably null	Het
Stk10	T	A	11: 32,548,471 (GRCm39)	N346K	probably benign	Het
Surf1	G	T	2: 26,806,358 (GRCm39)		probably benign	Het
Synj2	A	T	17: 6,084,163 (GRCm39)	E283V	probably damaging	Het
Tg	G	A	15: 66,629,855 (GRCm39)		probably null	Het
Traf1	A	T	2: 34,846,289 (GRCm39)	D42E	probably benign	Het
Ttn	T	C	2: 76,571,209 (GRCm39)	I26561M	probably damaging	Het
Ubp1	T	C	9: 113,785,070 (GRCm39)	Y128H	probably damaging	Het
Vmn1r216	T	A	13: 23,283,506 (GRCm39)	I63K	probably benign	Het
Vmn1r49	T	A	6: 90,049,612 (GRCm39)	H130L	probably benign	Het
Vmn2r90	C	T	17: 17,932,567 (GRCm39)	T158I	probably damaging	Het
Vps13d	T	C	4: 144,780,725 (GRCm39)	S885G	probably damaging	Het

Other mutations in Rsu1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02411:Rsu1	APN	2	13,082,308 (GRCm39)	utr 3 prime	probably benign
IGL02494:Rsu1	APN	2	13,222,002 (GRCm39)	splice site	probably null
R0276:Rsu1	UTSW	2	13,174,946 (GRCm39)	intron	probably benign
R3052:Rsu1	UTSW	2	13,174,946 (GRCm39)	intron	probably benign
R4598:Rsu1	UTSW	2	13,174,815 (GRCm39)	missense	probably damaging	1.00
R4599:Rsu1	UTSW	2	13,174,815 (GRCm39)	missense	probably damaging	1.00
R5896:Rsu1	UTSW	2	13,229,170 (GRCm39)	missense	probably damaging	1.00
R7292:Rsu1	UTSW	2	13,174,827 (GRCm39)	missense	probably damaging	1.00
R7469:Rsu1	UTSW	2	13,082,371 (GRCm39)	missense	probably benign
R7485:Rsu1	UTSW	2	13,221,686 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ACCACCATGTTCTAGGCAATC -3'
(R):5'- ATGATTGTTTTGACAGCTCCCTG -3'

Sequencing Primer
(F):5'- CCCTGGACAGCAATTTCTGAGATG -3'
(R):5'- ACTGCCTAAGGAAATCGG -3'

Posted On

2016-02-04