Mutagenetix > Incidental Mutation

Incidental Mutation 'R6175:St13'

514474

Institutional Source

Beutler Lab

Gene Symbol

St13

Ensembl Gene

ENSMUSG00000022403

Gene Name

suppression of tumorigenicity 13

Synonyms

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

MMRRC Submission

044317-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.294) question?

Stock #

R6175 (G1)

Quality Score

52.0072

Status

Validated

Chromosome

Chromosomal Location

81247870-81284278 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 81283506 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129966 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023039] [ENSMUST00000041609] [ENSMUST00000163382] [ENSMUST00000163754] [ENSMUST00000165258] [ENSMUST00000165582] [ENSMUST00000169204] [ENSMUST00000172107] [ENSMUST00000167799]

AlphaFold

Q99L47

Predicted Effect

probably benign
Transcript: ENSMUST00000023039

SMART Domains

Protein: ENSMUSP00000023039
Gene: ENSMUSG00000022403

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

noncoding transcript
Transcript: ENSMUST00000163296

Predicted Effect

probably benign
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 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

noncoding transcript
Transcript: ENSMUST00000164144

Predicted Effect

probably benign
Transcript: ENSMUST00000165258

Predicted Effect

probably null
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

noncoding transcript
Transcript: ENSMUST00000166831

Predicted Effect

probably benign
Transcript: ENSMUST00000169204

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230906

Predicted Effect

probably benign
Transcript: ENSMUST00000172107

SMART Domains

Protein: ENSMUSP00000130195
Gene: ENSMUSG00000022403

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167799

SMART Domains

Protein: ENSMUSP00000126038
Gene: ENSMUSG00000022401

Domain	Start	End	E-Value	Type
AMP_N	67	203	6.87e-50	SMART

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.2%

Validation Efficiency

97% (85/88)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	C	10: 78,902,448 (GRCm39)	K623E	probably damaging	Het
A530064D06Rik	T	A	17: 48,460,016 (GRCm39)	S227C	possibly damaging	Het
Adam30	A	T	3: 98,070,266 (GRCm39)	I700F	probably damaging	Het
Adam5	A	T	8: 25,276,167 (GRCm39)	M500K	probably benign	Het
Adgb	A	T	10: 10,274,687 (GRCm39)	S755T	possibly damaging	Het
Adgrv1	C	T	13: 81,534,124 (GRCm39)	G5819D	probably damaging	Het
Ank3	T	A	10: 69,763,557 (GRCm39)	Y17N	probably damaging	Het
Ano2	A	T	6: 125,969,918 (GRCm39)	M745L	probably benign	Het
Arap2	A	G	5: 62,872,074 (GRCm39)		probably null	Het
Atg2a	A	T	19: 6,291,759 (GRCm39)		probably benign	Het
AU021092	G	T	16: 5,038,312 (GRCm39)		probably null	Het
Bbs1	A	T	19: 4,940,749 (GRCm39)	L578Q	probably damaging	Het
Brd9	A	T	13: 74,108,433 (GRCm39)	E589D	probably damaging	Het
Calr4	A	G	4: 109,101,442 (GRCm39)	D108G	probably benign	Het
Ccdc82	A	G	9: 13,272,798 (GRCm39)	D429G	probably damaging	Het
Cdh22	G	T	2: 164,988,550 (GRCm39)	N268K	probably damaging	Het
Ceacam12	G	A	7: 17,801,312 (GRCm39)	G97D	probably damaging	Het
Clcn1	A	G	6: 42,291,096 (GRCm39)	D990G	probably damaging	Het
Cyp2c40	T	C	19: 39,801,004 (GRCm39)	T84A	probably benign	Het
Dnah7a	G	A	1: 53,472,181 (GRCm39)	P3529S	probably damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Efna3	GAGCAGCAGCAGCAGCAGCAGC	GAGCAGCAGCAGCAGCAGC	3: 89,230,105 (GRCm39)		probably benign	Het
Ehd2	G	A	7: 15,697,389 (GRCm39)	Q4*	probably null	Het
Eml5	A	G	12: 98,760,715 (GRCm39)	V1726A	possibly damaging	Het
Esam	A	G	9: 37,439,544 (GRCm39)	T10A	probably benign	Het
Fbxl6	A	G	15: 76,422,633 (GRCm39)	L95P	probably benign	Het
Fbxw18	T	A	9: 109,505,947 (GRCm39)	L441F	probably damaging	Het
Fbxw4	A	G	19: 45,624,766 (GRCm39)	S73P	probably benign	Het
Fndc1	T	A	17: 7,991,479 (GRCm39)	H739L	unknown	Het
Foxp1	G	A	6: 98,943,037 (GRCm39)	T237I	probably damaging	Het
Greb1	A	T	12: 16,724,771 (GRCm39)	I1801N	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hoxa13	G	T	6: 52,236,908 (GRCm39)	N281K	probably damaging	Het
Hspg2	A	G	4: 137,296,829 (GRCm39)	T4328A	probably damaging	Het
Htr2a	C	G	14: 74,882,474 (GRCm39)	Y153*	probably null	Het
Iglv1	C	A	16: 18,903,844 (GRCm39)	A92S	probably damaging	Het
Itih1	A	G	14: 30,653,152 (GRCm39)	S759P	probably damaging	Het
Kctd1	G	T	18: 15,102,688 (GRCm39)	S831*	probably null	Het
Kif20a	T	A	18: 34,761,199 (GRCm39)	S265T	probably damaging	Het
Kif22	T	A	7: 126,630,228 (GRCm39)	E436V	possibly damaging	Het
Kif27	A	G	13: 58,459,051 (GRCm39)	W927R	probably damaging	Het
Lcorl	G	A	5: 45,933,832 (GRCm39)	P66L	probably damaging	Het
Lct	A	G	1: 128,255,451 (GRCm39)	L197P	probably damaging	Het
Lefty1	T	C	1: 180,762,714 (GRCm39)	S14P	unknown	Het
Lnp1	A	G	16: 56,737,855 (GRCm39)	S78P	possibly damaging	Het
Map3k19	A	T	1: 127,750,569 (GRCm39)	H927Q	probably benign	Het
Meiosin	C	A	7: 18,834,814 (GRCm39)		probably benign	Het
Mta3	A	G	17: 84,099,222 (GRCm39)	T430A	probably benign	Het
Muc2	G	T	7: 141,282,875 (GRCm39)	C627F	probably damaging	Het
Myh13	A	G	11: 67,245,588 (GRCm39)	D1076G	probably benign	Het
Nck2	T	A	1: 43,572,729 (GRCm39)	M1K	probably null	Het
Nipal1	A	G	5: 72,820,898 (GRCm39)	N131S	probably damaging	Het
Nlrp9c	T	C	7: 26,077,426 (GRCm39)		probably null	Het
Nr2f2	A	G	7: 70,007,946 (GRCm39)	S179P	probably damaging	Het
Or1j16	A	G	2: 36,530,063 (GRCm39)	D4G	probably benign	Het
Or1j21	A	T	2: 36,683,980 (GRCm39)	H244L	probably damaging	Het
Or9g19	A	T	2: 85,600,652 (GRCm39)	N169I	probably benign	Het
Oxt	G	T	2: 130,418,163 (GRCm39)		probably benign	Het
Pank2	T	A	2: 131,122,181 (GRCm39)	Y235*	probably null	Het
Pear1	A	G	3: 87,659,440 (GRCm39)	L798P	possibly damaging	Het
Pex14	T	C	4: 149,046,156 (GRCm39)	H258R	probably benign	Het
Pmpcb	A	G	5: 21,962,031 (GRCm39)	I487V	probably benign	Het
Ppie	T	C	4: 123,031,362 (GRCm39)	E44G	probably benign	Het
Ppp1r9a	A	T	6: 4,905,639 (GRCm39)	R65*	probably null	Het
Ralgapb	T	C	2: 158,288,075 (GRCm39)	S371P	probably damaging	Het
Ros1	T	C	10: 51,977,881 (GRCm39)	H1455R	probably benign	Het
Sacs	C	A	14: 61,450,275 (GRCm39)	T4107K	possibly damaging	Het
Sec24a	G	A	11: 51,622,718 (GRCm39)	T386M	probably damaging	Het
Slc10a4	A	T	5: 73,169,593 (GRCm39)	Y207F	possibly damaging	Het
Slc30a10	T	C	1: 185,187,508 (GRCm39)	L83P	probably damaging	Het
Slc38a9	T	A	13: 112,840,093 (GRCm39)	L324*	probably null	Het
Slc7a9	A	T	7: 35,165,277 (GRCm39)	Q474L	probably damaging	Het
Smc5	C	A	19: 23,191,534 (GRCm39)	V875L	possibly damaging	Het
Snap91	T	C	9: 86,707,053 (GRCm39)	R246G	probably damaging	Het
Sned1	A	G	1: 93,203,196 (GRCm39)		probably null	Het
Spink14	G	A	18: 44,164,938 (GRCm39)	G85E	probably benign	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Stk10	A	G	11: 32,553,761 (GRCm39)	M593V	possibly damaging	Het
Tafa1	A	G	6: 96,092,721 (GRCm39)	H35R	probably benign	Het
Tex21	C	A	12: 76,245,707 (GRCm39)	A530S	probably benign	Het
Tln2	T	A	9: 67,131,363 (GRCm39)	K1394N	probably damaging	Het
Trhr2	C	A	8: 123,084,118 (GRCm39)	R294L	probably damaging	Het
Unc79	A	T	12: 103,149,708 (GRCm39)	I2408F	probably damaging	Het
Wdr24	T	C	17: 26,045,552 (GRCm39)	L429P	probably damaging	Het
Wwp2	T	A	8: 108,210,039 (GRCm39)	I139N	possibly damaging	Het
Zfp111	G	A	7: 23,897,554 (GRCm39)	R686C	unknown	Het
Zfp268	A	T	4: 145,350,811 (GRCm39)		probably benign	Het
Zyg11a	A	G	4: 108,046,878 (GRCm39)	V532A	probably benign	Het

Other mutations in St13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01647:St13	APN	15	81,255,708 (GRCm39)	missense	probably damaging	0.99
IGL01933:St13	APN	15	81,273,899 (GRCm39)	critical splice acceptor site	probably null
IGL02152:St13	APN	15	81,250,583 (GRCm39)	missense	probably damaging	1.00
R0714:St13	UTSW	15	81,267,228 (GRCm39)	missense	probably benign	0.16
R3417:St13	UTSW	15	81,253,651 (GRCm39)	splice site	probably benign
R4845:St13	UTSW	15	81,283,786 (GRCm39)	missense	probably benign	0.09
R4925:St13	UTSW	15	81,283,786 (GRCm39)	missense	probably benign	0.09
R4934:St13	UTSW	15	81,283,786 (GRCm39)	missense	probably benign	0.09
R5029:St13	UTSW	15	81,283,786 (GRCm39)	missense	probably benign	0.09
R5042:St13	UTSW	15	81,249,693 (GRCm39)	missense	probably damaging	1.00
R5048:St13	UTSW	15	81,283,786 (GRCm39)	missense	probably benign	0.09
R5139:St13	UTSW	15	81,283,786 (GRCm39)	missense	probably benign	0.09
R5970:St13	UTSW	15	81,261,999 (GRCm39)	missense	probably damaging	0.99
R6158:St13	UTSW	15	81,283,802 (GRCm39)	splice site	probably null
R6872:St13	UTSW	15	81,250,547 (GRCm39)	critical splice donor site	probably null
R7320:St13	UTSW	15	81,273,854 (GRCm39)	missense	probably damaging	0.99
R7912:St13	UTSW	15	81,283,719 (GRCm39)	missense	possibly damaging	0.52
R9258:St13	UTSW	15	81,272,569 (GRCm39)	missense	probably benign	0.01
R9281:St13	UTSW	15	81,261,927 (GRCm39)	missense	probably damaging	0.99
R9442:St13	UTSW	15	81,272,575 (GRCm39)	missense	possibly damaging	0.88
R9483:St13	UTSW	15	81,250,587 (GRCm39)	missense	probably damaging	0.99
R9549:St13	UTSW	15	81,259,063 (GRCm39)	missense	possibly damaging	0.64
X0065:St13	UTSW	15	81,250,637 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TAAACGACACATGGGTCAATGC -3'
(R):5'- TGAAGATGTGTAGGCAGGACCC -3'

Sequencing Primer
(F):5'- CATGGGTCAATGCGACTTAAAC -3'
(R):5'- ACCGAGGAAATGCGCTTC -3'

Posted On

2018-05-02