Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01645:St5'

102635

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

St5

Ensembl Gene

ENSMUSG00000031024

Gene Name

suppression of tumorigenicity 5

Synonyms

2610305K15Rik, 2010004M01Rik

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.520) question?

Stock #

IGL01645

Quality Score

Status

Chromosome

Chromosomal Location

109523911-109703605 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 109527634 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 540 (K540*)

Ref Sequence

ENSEMBL: ENSMUSP00000130119 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000077909
AA Change: K957*

SMART Domains

Protein: ENSMUSP00000077067
Gene: ENSMUSG00000031024
AA Change: K957*

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: K957*

SMART Domains

Protein: ENSMUSP00000078264
Gene: ENSMUSG00000031024
AA Change: K957*

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: K540*

SMART Domains

Protein: ENSMUSP00000081789
Gene: ENSMUSG00000031024
AA Change: K540*

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 null
Transcript: ENSMUST00000168005
AA Change: K540*

SMART Domains

Protein: ENSMUSP00000130119
Gene: ENSMUSG00000031024
AA Change: K540*

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

noncoding transcript
Transcript: ENSMUST00000207664

Coding Region Coverage

Validation Efficiency

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	T	C	14: 49,773,554	E232G	probably damaging	Het
Abcc8	C	T	7: 46,115,053	C1156Y	possibly damaging	Het
Armc4	T	C	18: 7,268,491	S343G	probably benign	Het
Atp8b1	G	A	18: 64,546,113	H766Y	probably benign	Het
BC030867	T	C	11: 102,255,186	L96P	probably damaging	Het
Cacna2d1	C	A	5: 16,012,391		probably null	Het
Card11	T	A	5: 140,878,023	T987S	probably benign	Het
Dmxl2	A	T	9: 54,378,733	Y2723N	possibly damaging	Het
Dnah11	T	A	12: 118,186,998	I342F	possibly damaging	Het
Dnajc10	A	G	2: 80,340,527	H454R	possibly damaging	Het
Dpy19l3	T	C	7: 35,695,338	T592A	probably benign	Het
Eea1	T	A	10: 95,989,589	S49T	probably damaging	Het
Esd	T	A	14: 74,749,719	N294K	probably benign	Het
Fmo3	A	G	1: 162,964,006	V234A	possibly damaging	Het
Folh1	A	G	7: 86,742,227	F420L	probably damaging	Het
Gabra1	T	C	11: 42,135,562	N301S	probably damaging	Het
Gm5422	A	T	10: 31,250,073		noncoding transcript	Het
Gorab	A	T	1: 163,386,431	L310Q	possibly damaging	Het
Gsdme	A	G	6: 50,251,336	Y51H	probably damaging	Het
Itpr1	T	C	6: 108,473,599	I1964T	possibly damaging	Het
Lmbr1	A	G	5: 29,235,055	L410P	probably damaging	Het
Lrrc37a	T	C	11: 103,504,264	R112G	probably benign	Het
Mrgpra6	T	C	7: 47,185,933	T247A	probably benign	Het
Mroh4	A	G	15: 74,611,358		probably benign	Het
Mycbpap	T	C	11: 94,503,467		probably null	Het
Myoz2	T	A	3: 123,034,232	K12N	probably damaging	Het
Olfr412	T	C	11: 74,365,533	I288T	possibly damaging	Het
P3h1	T	G	4: 119,236,783	F212V	probably damaging	Het
Pcnx2	T	C	8: 125,887,917	D265G	probably damaging	Het
Pkd1l3	C	T	8: 109,635,302	T992I	possibly damaging	Het
Prss58	T	C	6: 40,897,310	D144G	probably damaging	Het
Pth2	T	A	7: 45,181,340	L29Q	possibly damaging	Het
Rab1b	A	C	19: 5,104,934		probably benign	Het
Rasa2	A	T	9: 96,582,781	C190*	probably null	Het
Scn9a	T	C	2: 66,487,642	K1501E	possibly damaging	Het
Selenoi	A	G	5: 30,257,823		probably benign	Het
Slc11a2	T	C	15: 100,389,118	N558S	probably benign	Het
Sox10	T	C	15: 79,156,339	I173V	probably benign	Het
Sra1	A	C	18: 36,671,473	F476C	probably damaging	Het
Tmem119	T	A	5: 113,795,348	K131*	probably null	Het
Trim12c	T	A	7: 104,345,054	K198*	probably null	Het
Ttn	A	G	2: 76,851,560		probably benign	Het
Unc119b	C	T	5: 115,127,312	V154I	probably benign	Het
Usp47	T	A	7: 112,054,862	S108R	probably damaging	Het
Vmn1r15	T	A	6: 57,258,562	C138*	probably null	Het
Vmn1r191	T	C	13: 22,179,444	I47V	probably benign	Het
Wnt3	C	T	11: 103,812,378	A229V	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
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
R8354:St5	UTSW	7	109525548	nonsense	probably null
R8745:St5	UTSW	7	109557072	missense	probably benign	0.02
R8859:St5	UTSW	7	109524656	missense	probably damaging	1.00
RF062:St5	UTSW	7	109556946	unclassified	probably benign
X0067:St5	UTSW	7	109556240	missense	probably benign	0.00

Posted On

2014-01-21