Mutagenetix > Incidental Mutation

Incidental Mutation 'R7320:St13'

568169

Institutional Source

Beutler Lab

Gene Symbol

St13

Ensembl Gene

ENSMUSG00000022403

Gene Name

suppression of tumorigenicity 13

Synonyms

Hsp70 interacting protein, HSPABP1, PRO0786, 1110007I03Rik, 3110002K08Rik, SNC6, p48

MMRRC Submission

045370-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.314) question?

Stock #

R7320 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81363669-81400077 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81389653 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 80 (L80P)

Ref Sequence

ENSEMBL: ENSMUSP00000130195 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023039] [ENSMUST00000163382] [ENSMUST00000165582] [ENSMUST00000169204] [ENSMUST00000172107]

AlphaFold

Q99L47

Predicted Effect

probably damaging
Transcript: ENSMUST00000023039
AA Change: L71P

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

SMART Domains

Protein: ENSMUSP00000023039
Gene: ENSMUSG00000022403
AA Change: L71P

Domain	Start	End	E-Value	Type
PDB:4J8C\|B	1	44	6e-25	PDB
low complexity region	52	72	N/A	INTRINSIC
TPR	104	137	1.2e1	SMART
TPR	138	171	6.95e-4	SMART
TPR	172	205	4.8e1	SMART
coiled coil region	225	264	N/A	INTRINSIC
low complexity region	271	305	N/A	INTRINSIC
STI1	312	351	3.37e-10	SMART

Predicted Effect

silent
Transcript: ENSMUST00000163382

SMART Domains

Protein: ENSMUSP00000131502
Gene: ENSMUSG00000022403

Domain	Start	End	E-Value	Type
PDB:4J8C\|B	1	44	2e-27	PDB
low complexity region	52	66	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000165582
AA Change: L43P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129966
Gene: ENSMUSG00000022403
AA Change: L43P

Domain	Start	End	E-Value	Type
low complexity region	15	29	N/A	INTRINSIC
low complexity region	34	44	N/A	INTRINSIC
Pfam:TPR_11	74	129	6.8e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169204

Predicted Effect

probably damaging
Transcript: ENSMUST00000172107
AA Change: L80P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000130195
Gene: ENSMUSG00000022403
AA Change: L80P

Domain	Start	End	E-Value	Type
PDB:4J8C\|B	1	44	6e-25	PDB
low complexity region	52	66	N/A	INTRINSIC
low complexity region	71	81	N/A	INTRINSIC
TPR	113	146	1.2e1	SMART
TPR	147	180	6.95e-4	SMART
TPR	181	214	4.8e1	SMART
coiled coil region	234	273	N/A	INTRINSIC
low complexity region	280	314	N/A	INTRINSIC
STI1	321	360	3.37e-10	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an adaptor protein that mediates the association of the heat shock proteins HSP70 and HSP90. This protein has been shown to be involved in the assembly process of glucocorticoid receptor, which requires the assistance of multiple molecular chaperones. The expression of this gene is reported to be downregulated in colorectal carcinoma tissue suggesting that it is a candidate tumor suppressor gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	T	A	3: 108,464,303	K650*	probably null	Het
Abcc3	A	G	11: 94,367,645	I458T	probably benign	Het
Adam29	A	G	8: 55,872,714	I235T	possibly damaging	Het
AF529169	A	G	9: 89,601,626	S573P	probably benign	Het
Afap1	G	A	5: 35,948,223	V174I	probably damaging	Het
Ak8	A	T	2: 28,812,992	D456V	probably damaging	Het
Alb	T	C	5: 90,464,987		probably null	Het
Alox12	C	T	11: 70,254,472	A92T	probably benign	Het
Arhgap23	T	C	11: 97,451,545	S218P	probably benign	Het
Blm	G	A	7: 80,455,354	Q1389*	probably null	Het
C1ql4	A	T	15: 99,087,724	V2E	unknown	Het
Casp12	A	G	9: 5,348,897		probably null	Het
Ccdc73	A	T	2: 104,999,176	I1065F	possibly damaging	Het
Ccdc83	C	T	7: 90,224,034	G371D	probably damaging	Het
Cfap65	A	G	1: 74,926,604	S416P	probably damaging	Het
Cftr	T	A	6: 18,319,013	C1351S	probably damaging	Het
Clcn4	A	T	7: 7,291,828	H311Q	probably benign	Het
Cldn13	T	G	5: 134,915,020	I104L	probably benign	Het
Cul9	A	G	17: 46,510,909	V1880A	possibly damaging	Het
Ddx17	A	T	15: 79,531,904	D407E	probably damaging	Het
Ddx28	G	A	8: 106,011,325	P34S	probably damaging	Het
Dnah5	A	T	15: 28,270,470	N973Y	probably null	Het
Dock10	A	G	1: 80,549,704		probably null	Het
Dock3	T	C	9: 106,895,524	D510G	probably benign	Het
Dst	T	A	1: 34,191,094	D2589E	probably benign	Het
E2f7	T	C	10: 110,764,130	Y249H	not run	Het
Eef2kmt	T	C	16: 5,250,509	Y69C	possibly damaging	Het
Erlin1	T	C	19: 44,059,065	Y139C	probably damaging	Het
Exog	G	T	9: 119,462,478	V274L	possibly damaging	Het
Fam83e	G	A	7: 45,722,472	V98M	probably benign	Het
Fras1	C	T	5: 96,709,886	T2013I	probably benign	Het
Gart	G	T	16: 91,621,681	A970E	probably benign	Het
Gga2	T	A	7: 122,002,103	H259L	probably benign	Het
Glis3	C	A	19: 28,531,598	V329F	probably damaging	Het
Gm6356	T	A	14: 6,972,923	N53I	probably damaging	Het
Golgb1	C	A	16: 36,915,951	C1894*	probably null	Het
Ifi203	T	C	1: 173,929,167	N350S	unknown	Het
Isy1	T	A	6: 87,833,706	R55S	unknown	Het
Itsn1	A	T	16: 91,839,699	D678V	unknown	Het
Lhcgr	T	A	17: 88,742,078	R673S	probably benign	Het
Lnx2	C	A	5: 147,020,133	R601L	possibly damaging	Het
Map4	A	G	9: 110,081,517	T1093A	probably benign	Het
Mink1	A	G	11: 70,599,073	K92E	probably benign	Het
Moxd1	A	G	10: 24,301,465	I560V	probably benign	Het
Mrc2	C	A	11: 105,329,235	D327E	possibly damaging	Het
Notch2	A	G	3: 98,131,327	E1262G	possibly damaging	Het
Olfr1025-ps1	A	T	2: 85,918,374	I150F	probably benign	Het
Olfr1052	GTACTTTTT	GT	2: 86,297,994		probably null	Het
Olfr123	T	A	17: 37,796,357	N304K	probably benign	Het
Olfr1298	A	G	2: 111,645,952	L15S	probably benign	Het
Olfr1434	G	A	19: 12,283,816	G256D	possibly damaging	Het
Olfr1477	T	A	19: 13,503,180	M279K	possibly damaging	Het
Olfr653	C	A	7: 104,580,438	S264*	probably null	Het
Olfr785	A	T	10: 129,409,785	T140S	possibly damaging	Het
Pcbp2	T	A	15: 102,473,347	V5E	probably damaging	Het
Pcp4l1	G	A	1: 171,174,465	A42V	possibly damaging	Het
Pgghg	A	T	7: 140,943,040	Y104F	probably benign	Het
Plscr2	T	C	9: 92,291,140		probably null	Het
Ppfibp1	C	T	6: 146,978,053	A25V	probably damaging	Het
Ptgfr	C	T	3: 151,835,397	G158D	probably benign	Het
Ptgs2	T	C	1: 150,102,695	F186S	probably damaging	Het
Ptpn14	A	G	1: 189,832,759	E181G	probably benign	Het
Rpgrip1	A	G	14: 52,131,216	K291E	possibly damaging	Het
Rtn4rl1	T	C	11: 75,194,296		probably null	Het
Sema3b	T	A	9: 107,600,942	M415L	probably benign	Het
Sh3bp4	A	G	1: 89,145,494	E688G	probably damaging	Het
Slco6c1	G	A	1: 97,128,162	R5C	possibly damaging	Het
Slmap	A	G	14: 26,460,072	F369L	possibly damaging	Het
Sphk2	T	C	7: 45,712,470	N181S	possibly damaging	Het
Sqor	A	G	2: 122,799,810	T235A	probably benign	Het
St3gal6	A	G	16: 58,493,711	Y20H	probably benign	Het
Sun1	T	G	5: 139,248,484	Y899D	probably damaging	Het
Synm	C	T	7: 67,735,380	E845K	possibly damaging	Het
Tg	A	T	15: 66,694,784	D1227V	possibly damaging	Het
Thbs1	A	G	2: 118,114,957	N306D	possibly damaging	Het
Tmcc3	A	T	10: 94,578,495	N51Y	possibly damaging	Het
Usp4	A	G	9: 108,388,306	D856G	probably benign	Het
Vil1	G	A	1: 74,418,444	A79T	probably damaging	Het
Vmn1r119	T	A	7: 21,012,346	H37L	probably damaging	Het
Vmn2r110	A	T	17: 20,596,054	M69K	probably benign	Het
Wdr78	A	T	4: 103,050,187	I634N	possibly damaging	Het
Ywhaq	A	G	12: 21,394,981	L221P	probably damaging	Het
Zfp142	G	A	1: 74,570,008	Q1543*	probably null	Het
Zfp384	T	A	6: 125,024,830	M146K	possibly damaging	Het

Other mutations in St13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01647:St13	APN	15	81371507	missense	probably damaging	0.99
IGL01933:St13	APN	15	81389698	critical splice acceptor site	probably null
IGL02152:St13	APN	15	81366382	missense	probably damaging	1.00
R0714:St13	UTSW	15	81383027	missense	probably benign	0.16
R3417:St13	UTSW	15	81369450	splice site	probably benign
R4845:St13	UTSW	15	81399585	missense	probably benign	0.09
R4925:St13	UTSW	15	81399585	missense	probably benign	0.09
R4934:St13	UTSW	15	81399585	missense	probably benign	0.09
R5029:St13	UTSW	15	81399585	missense	probably benign	0.09
R5042:St13	UTSW	15	81365492	missense	probably damaging	1.00
R5048:St13	UTSW	15	81399585	missense	probably benign	0.09
R5139:St13	UTSW	15	81399585	missense	probably benign	0.09
R5970:St13	UTSW	15	81377798	missense	probably damaging	0.99
R6158:St13	UTSW	15	81399601	splice site	probably null
R6175:St13	UTSW	15	81399305	critical splice donor site	probably null
R6872:St13	UTSW	15	81366346	critical splice donor site	probably null
R7912:St13	UTSW	15	81399518	missense	possibly damaging	0.52
R9258:St13	UTSW	15	81388368	missense	probably benign	0.01
R9281:St13	UTSW	15	81377726	missense	probably damaging	0.99
R9442:St13	UTSW	15	81388374	missense	possibly damaging	0.88
R9483:St13	UTSW	15	81366386	missense	probably damaging	0.99
R9549:St13	UTSW	15	81374862	missense	possibly damaging	0.64
X0065:St13	UTSW	15	81366436	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACAGGCATACCATTGATACAGG -3'
(R):5'- TAGGTTTGTATGGTGCCAGAAC -3'

Sequencing Primer
(F):5'- CTGGCATTCAGGAGGCTGAG -3'
(R):5'- ATCAACGGGTTGCTACCATG -3'

Posted On

2019-06-26