Mutagenetix > Incidental Mutation

Incidental Mutation 'R8354:St5'

660601

Institutional Source

Beutler Lab

Gene Symbol

St5

Ensembl Gene

ENSMUSG00000031024

Gene Name

suppression of tumorigenicity 5

Synonyms

2610305K15Rik, 2010004M01Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.430) question?

Stock #

R8354 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109523911-109703605 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 109525548 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 675 (R675*)

Ref Sequence

ENSEMBL: ENSMUSP00000130119 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077909] [ENSMUST00000079282] [ENSMUST00000084738] [ENSMUST00000143107] [ENSMUST00000156921] [ENSMUST00000168005]

AlphaFold

Q924W7

Predicted Effect

probably null
Transcript: ENSMUST00000077909
AA Change: R1092*

SMART Domains

Protein: ENSMUSP00000077067
Gene: ENSMUSG00000031024
AA Change: R1092*

Domain	Start	End	E-Value	Type
low complexity region	28	46	N/A	INTRINSIC
low complexity region	197	213	N/A	INTRINSIC
low complexity region	314	326	N/A	INTRINSIC
low complexity region	327	348	N/A	INTRINSIC
low complexity region	365	379	N/A	INTRINSIC
low complexity region	407	426	N/A	INTRINSIC
low complexity region	577	609	N/A	INTRINSIC
low complexity region	624	638	N/A	INTRINSIC
low complexity region	645	656	N/A	INTRINSIC
uDENN	690	781	1.16e-30	SMART
DENN	788	972	7.84e-78	SMART
low complexity region	1007	1014	N/A	INTRINSIC
dDENN	1019	1086	3.12e-22	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000079282
AA Change: R1092*

SMART Domains

Protein: ENSMUSP00000078264
Gene: ENSMUSG00000031024
AA Change: R1092*

Domain	Start	End	E-Value	Type
low complexity region	28	46	N/A	INTRINSIC
low complexity region	197	213	N/A	INTRINSIC
low complexity region	314	326	N/A	INTRINSIC
low complexity region	327	348	N/A	INTRINSIC
low complexity region	365	379	N/A	INTRINSIC
low complexity region	407	426	N/A	INTRINSIC
low complexity region	577	609	N/A	INTRINSIC
low complexity region	624	638	N/A	INTRINSIC
low complexity region	645	656	N/A	INTRINSIC
uDENN	690	781	1.16e-30	SMART
DENN	788	972	7.84e-78	SMART
low complexity region	1007	1014	N/A	INTRINSIC
dDENN	1019	1086	3.12e-22	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000084738
AA Change: R675*

SMART Domains

Protein: ENSMUSP00000081789
Gene: ENSMUSG00000031024
AA Change: R675*

Domain	Start	End	E-Value	Type
low complexity region	160	192	N/A	INTRINSIC
low complexity region	207	221	N/A	INTRINSIC
low complexity region	228	239	N/A	INTRINSIC
uDENN	273	364	1.16e-30	SMART
DENN	371	555	7.84e-78	SMART
low complexity region	590	597	N/A	INTRINSIC
dDENN	602	669	3.12e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000143107

SMART Domains

Protein: ENSMUSP00000123410
Gene: ENSMUSG00000046364

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L18e	26	146	7.2e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156921

Predicted Effect

probably null
Transcript: ENSMUST00000168005
AA Change: R675*

SMART Domains

Protein: ENSMUSP00000130119
Gene: ENSMUSG00000031024
AA Change: R675*

Domain	Start	End	E-Value	Type
low complexity region	160	192	N/A	INTRINSIC
low complexity region	207	221	N/A	INTRINSIC
low complexity region	228	239	N/A	INTRINSIC
uDENN	273	364	1.16e-30	SMART
DENN	371	555	7.84e-78	SMART
low complexity region	590	597	N/A	INTRINSIC
dDENN	602	669	3.12e-22	SMART

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (70/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified by its ability to suppress the tumorigenicity of Hela cells in nude mice. The protein encoded by this gene contains a C-terminal region that shares similarity with the Rab 3 family of small GTP binding proteins. This protein preferentially binds to the SH3 domain of c-Abl kinase, and acts as a regulator of MAPK1/ERK2 kinase, which may contribute to its ability to reduce the tumorigenic phenotype in cells. Three alternatively spliced transcript variants of this gene encoding distinct isoforms are identified. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	A	T	2: 150,834,377	S353R	probably damaging	Het
Ap1ar	T	C	3: 127,812,779		probably null	Het
Asxl1	C	A	2: 153,393,425	N213K	probably benign	Het
Cacna1e	A	G	1: 154,398,568	V2197A	probably damaging	Het
Cacna2d2	G	A	9: 107,524,135	E706K	possibly damaging	Het
Cfap46	C	T	7: 139,653,498	V296I	probably benign	Het
Cldn5	A	G	16: 18,777,293	T100A	probably benign	Het
Ctnna1	C	A	18: 35,252,723	N802K	possibly damaging	Het
Dip2c	A	G	13: 9,621,882	T968A	probably benign	Het
Dnaaf5	ACCCAGCACCTGGAGATCGTCC	ACC	5: 139,161,859		probably null	Het
Dnah8	A	T	17: 30,643,260	D203V	probably benign	Het
Dnajc13	A	G	9: 104,217,728	M585T	probably damaging	Het
Donson	G	T	16: 91,683,797	T262K	possibly damaging	Het
E2f3	T	A	13: 29,985,804		probably benign	Het
Fam110c	A	G	12: 31,075,179	E380G	possibly damaging	Het
Gbp9	T	G	5: 105,094,161	T177P	probably damaging	Het
Gins3	C	T	8: 95,638,018	A132V	probably benign	Het
Glra3	T	A	8: 56,125,310	Y467*	probably null	Het
Gm12394	T	A	4: 42,793,223	H303L	probably benign	Het
Gm7138	A	G	10: 77,776,610		probably benign	Het
Golim4	T	C	3: 75,895,001	E328G	probably damaging	Het
Habp2	T	A	19: 56,312,956	C270*	probably null	Het
Hecw2	A	G	1: 53,925,308		probably null	Het
Hmcn1	A	T	1: 150,758,391	Y815N	possibly damaging	Het
Igfn1	A	T	1: 135,959,881	C2482S	possibly damaging	Het
Igkv4-71	A	G	6: 69,243,276	V57A	probably damaging	Het
Itpkb	G	A	1: 180,333,343	E345K	possibly damaging	Het
Itpr3	G	A	17: 27,115,919	V2136M	possibly damaging	Het
Kcnh3	A	G	15: 99,229,330	T336A	probably damaging	Het
Kdm4d	T	C	9: 14,463,939	T208A	possibly damaging	Het
Kntc1	T	C	5: 123,778,267	F721S	probably damaging	Het
Krt10	A	G	11: 99,389,260		probably benign	Het
Lgals3bp	T	A	11: 118,398,541	N28I	probably damaging	Het
Matn2	T	C	15: 34,378,697	L293P	probably damaging	Het
Mical3	T	C	6: 120,973,420	E1010G	probably damaging	Het
Mpp4	C	A	1: 59,130,065	R380L	probably damaging	Het
Msh5	A	G	17: 35,031,766	F469L	possibly damaging	Het
Ncam2	A	G	16: 81,512,959	T446A	probably benign	Het
Neurl4	A	G	11: 69,909,236	D1050G	probably damaging	Het
Olfml2b	T	C	1: 170,682,224	Y714H	possibly damaging	Het
Olfr1173	T	C	2: 88,274,692	D119G	probably damaging	Het
Olfr895	T	C	9: 38,269,217	S235P	probably benign	Het
Pcnx2	T	C	8: 125,761,618	E1729G	probably damaging	Het
Peg10	GCACATCAGGATCC	GCACATCAGGATCCCCATCAGGATCCTCCACATCAGGATCC	6: 4,756,452		probably benign	Het
Pex1	T	A	5: 3,631,707	L1051Q	probably damaging	Het
Prkag2	T	A	5: 24,869,139	R283*	probably null	Het
Prrc1	T	A	18: 57,371,431	M238K	probably damaging	Het
Ptprj	T	C	2: 90,469,717	T247A	probably benign	Het
Ptprz1	A	G	6: 22,999,615	Y568C	probably damaging	Het
Rab36	G	A	10: 75,048,459	A114T	probably damaging	Het
Rfx7	T	C	9: 72,619,449	V1307A	probably benign	Het
Scaf1	A	C	7: 45,007,827		probably benign	Het
Sema4g	A	T	19: 44,998,427	T440S	probably benign	Het
Setbp1	A	T	18: 78,857,383	V1023E	probably damaging	Het
Slc46a2	T	C	4: 59,913,931	I331V	possibly damaging	Het
Slc4a7	C	T	14: 14,786,313	R1000C	probably damaging	Het
Sorcs2	T	C	5: 36,065,409	H162R	probably benign	Het
Strip2	G	A	6: 29,920,532		probably null	Het
Stx2	T	A	5: 128,994,868	I42L	probably benign	Het
Tas2r124	A	T	6: 132,755,447	T240S	probably benign	Het
Tgfbrap1	A	T	1: 43,075,910	V10D	probably damaging	Het
Tmem41a	T	A	16: 21,947,431	Y19F	probably benign	Het
Tmprss5	A	G	9: 49,107,139	T74A	possibly damaging	Het
Trim16	G	T	11: 62,836,761	R216L	probably benign	Het
Trmt10c	T	C	16: 56,034,507	K255R	probably benign	Het
Trpm2	A	T	10: 77,933,649	V747E	probably damaging	Het
Ube2v2	T	C	16: 15,581,141	D28G	possibly damaging	Het
Uty	G	A	Y: 1,157,928	T705I	possibly damaging	Het
Vmn2r80	A	T	10: 79,148,876	I21F	probably benign	Het
Wdr11	T	C	7: 129,602,999	L176S	probably damaging	Het
Zfp992	A	G	4: 146,466,862	T347A	probably benign	Het

Other mutations in St5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:St5	APN	7	109527708	missense	possibly damaging	0.71
IGL01132:St5	APN	7	109570005	splice site	probably null
IGL01288:St5	APN	7	109539822	missense	probably damaging	0.96
IGL01645:St5	APN	7	109527634	nonsense	probably null
IGL01714:St5	APN	7	109570062	missense	probably damaging	0.99
IGL02021:St5	APN	7	109557372	missense	probably damaging	1.00
IGL02302:St5	APN	7	109525331	missense	probably damaging	1.00
IGL02496:St5	APN	7	109556235	missense	possibly damaging	0.83
IGL02795:St5	APN	7	109556364	missense	probably damaging	1.00
Bucolic	UTSW	7	109525548	nonsense	probably null
Halcyon	UTSW	7	109556793	nonsense	probably null
FR4340:St5	UTSW	7	109556921	unclassified	probably benign
FR4737:St5	UTSW	7	109556921	unclassified	probably benign
PIT4466001:St5	UTSW	7	109531130	missense	probably damaging	1.00
PIT4469001:St5	UTSW	7	109531130	missense	probably damaging	1.00
PIT4472001:St5	UTSW	7	109531130	missense	probably damaging	1.00
R0024:St5	UTSW	7	109524659	missense	probably damaging	1.00
R0124:St5	UTSW	7	109542511	missense	possibly damaging	0.66
R0125:St5	UTSW	7	109556338	missense	probably benign	0.19
R0365:St5	UTSW	7	109538949	missense	probably damaging	1.00
R0491:St5	UTSW	7	109557204	missense	probably benign	0.45
R0534:St5	UTSW	7	109541428	missense	probably damaging	1.00
R0662:St5	UTSW	7	109557426	missense	probably damaging	1.00
R0743:St5	UTSW	7	109557345	missense	probably damaging	1.00
R0772:St5	UTSW	7	109542320	splice site	probably null
R0774:St5	UTSW	7	109542320	splice site	probably null
R0787:St5	UTSW	7	109525620	missense	possibly damaging	0.94
R0884:St5	UTSW	7	109557345	missense	probably damaging	1.00
R1518:St5	UTSW	7	109557355	missense	probably damaging	1.00
R1908:St5	UTSW	7	109525326	nonsense	probably null
R1909:St5	UTSW	7	109525326	nonsense	probably null
R2232:St5	UTSW	7	109557207	missense	probably benign
R2358:St5	UTSW	7	109556446	missense	probably benign	0.01
R2847:St5	UTSW	7	109525337	missense	probably damaging	1.00
R2869:St5	UTSW	7	109557430	missense	probably benign	0.01
R2869:St5	UTSW	7	109557430	missense	probably benign	0.01
R2870:St5	UTSW	7	109557430	missense	probably benign	0.01
R2870:St5	UTSW	7	109557430	missense	probably benign	0.01
R2871:St5	UTSW	7	109557430	missense	probably benign	0.01
R2871:St5	UTSW	7	109557430	missense	probably benign	0.01
R2873:St5	UTSW	7	109557430	missense	probably benign	0.01
R2874:St5	UTSW	7	109557430	missense	probably benign	0.01
R4534:St5	UTSW	7	109531156	missense	probably damaging	1.00
R4536:St5	UTSW	7	109531156	missense	probably damaging	1.00
R4559:St5	UTSW	7	109525578	missense	probably damaging	1.00
R4798:St5	UTSW	7	109557033	missense	probably damaging	0.99
R4846:St5	UTSW	7	109556836	nonsense	probably null
R5110:St5	UTSW	7	109542490	missense	probably benign	0.02
R5181:St5	UTSW	7	109556790	missense	probably benign
R5268:St5	UTSW	7	109557312	missense	probably benign
R5403:St5	UTSW	7	109556905	missense	probably damaging	1.00
R5836:St5	UTSW	7	109541345	missense	possibly damaging	0.78
R5932:St5	UTSW	7	109570016	missense	probably damaging	1.00
R5937:St5	UTSW	7	109557271	missense	possibly damaging	0.86
R6180:St5	UTSW	7	109556888	missense	probably benign	0.11
R6741:St5	UTSW	7	109545097	missense	possibly damaging	0.95
R6781:St5	UTSW	7	109525304	missense	possibly damaging	0.83
R7086:St5	UTSW	7	109525574	missense	probably damaging	1.00
R7466:St5	UTSW	7	109525346	missense	probably damaging	1.00
R7644:St5	UTSW	7	109556793	nonsense	probably null
R8745:St5	UTSW	7	109557072	missense	probably benign	0.02
R8859:St5	UTSW	7	109524656	missense	probably damaging	1.00
R9016:St5	UTSW	7	109540435	missense	possibly damaging	0.84
R9178:St5	UTSW	7	109557084	missense	probably benign	0.31
R9361:St5	UTSW	7	109527784	missense	probably damaging	1.00
R9564:St5	UTSW	7	109526329	missense	probably damaging	1.00
R9595:St5	UTSW	7	109556766	missense	probably damaging	0.96
RF062:St5	UTSW	7	109556946	unclassified	probably benign
X0067:St5	UTSW	7	109556240	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCCACTCTCTGCTCAAAGAGGC -3'
(R):5'- TGGAGACTGTGGGTCACTAC -3'

Sequencing Primer
(F):5'- TCTCTGCTCAAAGAGGCCTGAG -3'
(R):5'- AGACTGTGGGTCACTACTCCCTC -3'

Posted On

2021-01-18