Mutagenetix > Incidental Mutations

Incidental Mutation 'R7912:St13'

610627

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

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.256) question?

Stock #

R7912 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81363669-81400077 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81399518 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 26 (E26G)

Ref Sequence

ENSEMBL: ENSMUSP00000130195 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023039] [ENSMUST00000041609] [ENSMUST00000163382] [ENSMUST00000163754] [ENSMUST00000165258] [ENSMUST00000165582] [ENSMUST00000169204] [ENSMUST00000172107]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023039
AA Change: E26G

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000023039
Gene: ENSMUSG00000022403
AA Change: E26G

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

probably benign
Transcript: ENSMUST00000041609

SMART Domains

Protein: ENSMUSP00000038331
Gene: ENSMUSG00000022401

Domain	Start	End	E-Value	Type
AMP_N	67	213	6.36e-54	SMART
Pfam:Peptidase_M24	253	366	1.8e-22	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163382
AA Change: E26G

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000131502
Gene: ENSMUSG00000022403
AA Change: E26G

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 benign
Transcript: ENSMUST00000163754

SMART Domains

Protein: ENSMUSP00000132822
Gene: ENSMUSG00000022401

Domain	Start	End	E-Value	Type
AMP_N	67	213	6.36e-54	SMART
Pfam:Peptidase_M24	253	481	1.1e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165258

Predicted Effect

probably benign
Transcript: ENSMUST00000165582

SMART Domains

Protein: ENSMUSP00000129966
Gene: ENSMUSG00000022403

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

possibly damaging
Transcript: ENSMUST00000172107
AA Change: E26G

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000130195
Gene: ENSMUSG00000022403
AA Change: E26G

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: 98.6%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	A	T	13: 59,742,515	I497K	probably damaging	Het
2310003L06Rik	A	G	5: 87,972,592	T403A	probably benign	Het
4932438A13Rik	C	T	3: 37,007,069	A3309V	probably damaging	Het
5730559C18Rik	A	G	1: 136,227,541	S109P	probably benign	Het
Aco1	T	C	4: 40,184,983	L551S	probably damaging	Het
Acvr1	C	T	2: 58,474,218	V200I	probably damaging	Het
Adam26b	T	A	8: 43,520,208	T586S	probably benign	Het
Ahctf1	T	C	1: 179,753,091	R1849G	probably benign	Het
Alox5	T	A	6: 116,412,536	D590V	probably benign	Het
Anapc5	A	G	5: 122,793,435		probably null	Het
Anln	T	C	9: 22,358,669	E743G	possibly damaging	Het
Anpep	T	C	7: 79,838,426	K496R	probably benign	Het
Aox3	T	A	1: 58,142,696	S281T	probably benign	Het
Arhgef11	C	A	3: 87,733,222	P1258T	probably damaging	Het
Atp2c2	A	T	8: 119,730,178	D173V	possibly damaging	Het
Aurka	T	G	2: 172,369,029	D22A	probably benign	Het
B3gat1	A	T	9: 26,755,586	D51V	probably benign	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
BC028528	CACTG	CACTGATTCTGTGGTGACTG	3: 95,888,138		probably benign	Het
BC028528	CTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCA	CTGGTTCTGTGGTCAATGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCA	3: 95,888,140		probably benign	Het
BC028528	GGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACT	GGTTCTGTGGTCACTTGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACT	3: 95,888,142		probably benign	Het
BC028528	TTC	TTCGGTGGTCACTGGCTC	3: 95,888,144		probably benign	Het
BC028528	ACTGGTTCTGTGGTCACTGGTTCTGTGGTC	ACTGGTTCTGTGGTCGCTGGTTCTGTGGTCACTGGTTCTGTGGTC	3: 95,888,154		probably benign	Het
BC028528	TGGTTCTGTGGTCAC	TGGTTCTGTGGTCACGGGTTCTGTGGTCAC	3: 95,888,171		probably benign	Het
Bcas3	G	A	11: 85,371,128	G96S	probably damaging	Het
C2cd4d	T	A	3: 94,363,553	V42D	probably damaging	Het
Ccdc127	T	C	13: 74,357,032	L233P	probably damaging	Het
Cdc42bpa	A	G	1: 180,094,013	K573E	probably damaging	Het
Cend1	T	C	7: 141,427,631	D92G	probably damaging	Het
Crb1	T	C	1: 139,243,171	D827G	probably damaging	Het
Cyld	G	T	8: 88,734,897	C654F	probably damaging	Het
Fastkd5	C	T	2: 130,616,637	G11D	probably damaging	Het
Foxj3	A	T	4: 119,620,055	N354I	possibly damaging	Het
Gimap8	G	T	6: 48,651,065	C252F	probably benign	Het
Glra1	T	C	11: 55,520,995	Y329C	probably damaging	Het
Gm10330	G	A	12: 23,779,979	P67L	probably benign	Het
Gpm6a	T	C	8: 55,055,434	I226T	possibly damaging	Het
Gstt2	A	G	10: 75,832,584	F121S	probably benign	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,266,278		probably benign	Het
Hmcn2	T	C	2: 31,420,299	F3302L	probably benign	Het
Hormad2	T	C	11: 4,408,841	T189A	probably damaging	Het
Hps5	A	T	7: 46,769,402	S815T	probably benign	Het
Hydin	G	T	8: 110,555,607	R3113L	possibly damaging	Het
Inpp5f	T	A	7: 128,692,313	C698S	probably benign	Het
Irs1	T	G	1: 82,289,884	M204L	probably benign	Het
Itfg1	T	C	8: 85,764,280	D340G	probably damaging	Het
Itm2c	T	A	1: 85,905,311	I122N	probably damaging	Het
Lamp3	T	A	16: 19,655,497	T376S	probably damaging	Het
Lrba	T	A	3: 86,715,565	I2418N	probably damaging	Het
Lrcol1	T	A	5: 110,354,849	V161D	probably damaging	Het
Lrp2	T	A	2: 69,428,672	Q4558L	probably benign	Het
Lrrfip2	A	T	9: 111,205,768	Q175L	probably damaging	Het
Mib1	T	G	18: 10,778,187	S572R	probably damaging	Het
Mis18bp1	A	T	12: 65,152,758	D456E	possibly damaging	Het
Mlh1	T	A	9: 111,261,513	T116S	possibly damaging	Het
Mpp4	T	C	1: 59,121,362	N594S	probably damaging	Het
Nbas	A	G	12: 13,405,457	E1224G	possibly damaging	Het
Neb	T	C	2: 52,220,985	D163G	possibly damaging	Het
Nectin4	T	C	1: 171,380,373	V111A	possibly damaging	Het
Nfatc2ip	G	A	7: 126,390,445	R256*	probably null	Het
Nlgn2	G	A	11: 69,825,934	R594C	probably damaging	Het
Nufip1	A	G	14: 76,115,002	S198G	possibly damaging	Het
Olfr134	T	C	17: 38,175,267	F61S	probably damaging	Het
Olfr205	C	T	16: 59,329,243	D89N	possibly damaging	Het
Olfr281	C	T	15: 98,456,693	H128Y	probably benign	Het
Olfr913	T	C	9: 38,595,150	F310L	probably benign	Het
Pcdhga8	G	A	18: 37,726,843	M317I	probably benign	Het
Phactr1	A	T	13: 42,709,763	I55L	probably benign	Het
Prl3c1	G	A	13: 27,199,384	R31Q	probably benign	Het
Prss55	A	T	14: 64,081,731	F59Y	possibly damaging	Het
Ptprb	T	C	10: 116,322,487	W488R	probably damaging	Het
Qrich2	GAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGTCCCAGGCTGCAACAAACCAGGCTGATC	GAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGTCCCAGGCTGCAACAAACCAGGCTGATC	11: 116,455,782		probably benign	Het
Ros1	G	T	10: 52,168,695	T172K	probably damaging	Het
Rtel1	C	T	2: 181,356,076	R1206W	possibly damaging	Het
Slf2	A	T	19: 44,942,243	K586N	probably damaging	Het
Smc2	T	A	4: 52,450,854	M224K	probably benign	Het
Spinkl	T	C	18: 44,166,649	Y83C	probably damaging	Het
Srgap1	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	10: 121,853,553		probably benign	Het
Teddm3	T	A	16: 21,152,949	Q290L	probably benign	Het
Tfec	C	A	6: 16,840,468		probably null	Het
Trank1	C	A	9: 111,391,528	D2444E	probably benign	Het
Ttc17	T	A	2: 94,378,821	N96I	probably damaging	Het
Ttn	T	C	2: 76,729,786	T29424A	possibly damaging	Het
Vmn1r68	G	A	7: 10,527,310	T287I	probably benign	Het
Vmn2r52	C	A	7: 10,162,950	V532L	probably benign	Het
Vmn2r92	A	T	17: 18,184,708	T705S	possibly damaging	Het
Vps13d	T	C	4: 145,173,127	D200G		Het
Wdr48	G	A	9: 119,904,339	C84Y	probably damaging	Het
Zcchc6	C	A	13: 59,799,005	Q1003H	probably damaging	Het
Zscan25	T	A	5: 145,290,511	H328Q	probably benign	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
R7320:St13	UTSW	15	81389653	missense	probably damaging	0.99
X0065:St13	UTSW	15	81366436	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TAAGTTGCCCAACGCTCCAG -3'
(R):5'- ACGGGCAGCTACACTTCTAG -3'

Sequencing Primer
(F):5'- GATCCCTCCGAGAACCTCTC -3'
(R):5'- GGCAGCTACACTTCTAGAAGGTTC -3'

Posted On

2019-12-20