Mutagenetix > Incidental Mutation

Incidental Mutation 'R7109:Stip1'

551423

Institutional Source

Beutler Lab

Gene Symbol

Stip1

Ensembl Gene

ENSMUSG00000024966

Gene Name

stress-induced phosphoprotein 1

Synonyms

p60, IEF SSP 3521, Hsp70/Hsp90 organizing protein, Hop, STI1

MMRRC Submission

045201-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7109 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

6998070-7017335 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 6999178 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 467 (G467S)

Ref Sequence

ENSEMBL: ENSMUSP00000025918 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025918] [ENSMUST00000040772]

AlphaFold

Q60864

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025918
AA Change: G467S

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025918
Gene: ENSMUSG00000024966
AA Change: G467S

Domain	Start	End	E-Value	Type
TPR	4	37	3.07e-5	SMART
TPR	38	71	1.63e0	SMART
TPR	72	105	5.87e-2	SMART
STI1	130	169	4.84e-1	SMART
low complexity region	192	220	N/A	INTRINSIC
TPR	225	258	7.45e-4	SMART
TPR	259	292	1.1e-1	SMART
TPR	300	333	1.09e-5	SMART
TPR	360	393	1.07e-4	SMART
TPR	394	427	9.45e-6	SMART
TPR	428	461	3.29e-5	SMART
STI1	492	531	1.66e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000040772

SMART Domains

Protein: ENSMUSP00000037858
Gene: ENSMUSG00000024965

Domain	Start	End	E-Value	Type
Blast:B41	14	77	6e-32	BLAST
B41	94	556	1.66e-28	SMART
PH	350	455	2.26e-12	SMART

Meta Mutation Damage Score

0.5146

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] STIP1 is an adaptor protein that coordinates the functions of HSP70 (see HSPA1A; MIM 140550) and HSP90 (see HSP90AA1; MIM 140571) in protein folding. It is thought to assist in the transfer of proteins from HSP70 to HSP90 by binding both HSP90 and substrate-bound HSP70. STIP1 also stimulates the ATPase activity of HSP70 and inhibits the ATPase activity of HSP90, suggesting that it regulates both the conformations and ATPase cycles of these chaperones (Song and Masison, 2005 [PubMed 16100115]).[supplied by OMIM, Jul 2009]
PHENOTYPE: Mice homozygous for a targeted allele exhibit embryonic lethality by E10.5, actute inflammation in the placental labyrinth, poorly formed neural tube and limb buds and increase double-strand breaks. Mice heterozygous for this allele exhibit susceptibility to ischemic brain injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	G	2: 151,315,673 (GRCm39)	K2Q	probably damaging	Het
Abtb2	T	C	2: 103,545,860 (GRCm39)	Y903H	probably benign	Het
Adamtsl3	C	T	7: 82,261,069 (GRCm39)	P29S		Het
Alcam	T	A	16: 52,097,192 (GRCm39)	T355S	probably damaging	Het
Anapc1	A	G	2: 128,516,522 (GRCm39)	V404A	probably benign	Het
Bst2	A	G	8: 71,989,926 (GRCm39)	F49S	possibly damaging	Het
C1qtnf9	G	C	14: 61,017,019 (GRCm39)	W183S	probably benign	Het
Camsap3	A	G	8: 3,648,087 (GRCm39)	I132V	possibly damaging	Het
Cchcr1	T	A	17: 35,828,838 (GRCm39)		probably null	Het
Cenpk	A	G	13: 104,367,256 (GRCm39)	K31E	probably benign	Het
Cfap221	T	C	1: 119,853,301 (GRCm39)	K798E	possibly damaging	Het
Copb2	T	A	9: 98,463,333 (GRCm39)		probably null	Het
Dennd1a	T	A	2: 37,938,804 (GRCm39)	Y102F	probably damaging	Het
Eif2ak4	C	T	2: 118,235,532 (GRCm39)	P88S	probably damaging	Het
Epha6	C	A	16: 59,503,031 (GRCm39)	V959F	probably damaging	Het
Fam193a	C	A	5: 34,623,165 (GRCm39)	T1251K	possibly damaging	Het
Herc1	A	T	9: 66,389,171 (GRCm39)	Q3896L	probably benign	Het
Ikbip	C	A	10: 90,919,090 (GRCm39)	D34E	probably benign	Het
Insr	A	G	8: 3,308,481 (GRCm39)	V185A	probably benign	Het
Jakmip1	C	T	5: 37,332,109 (GRCm39)	Q930*	probably null	Het
Klc1	A	G	12: 111,743,299 (GRCm39)	I209V	probably benign	Het
Lrrk2	T	A	15: 91,648,985 (GRCm39)	L1660M	probably damaging	Het
Mbd3l1	G	T	9: 18,396,210 (GRCm39)	D112Y	possibly damaging	Het
Mrps2	T	A	2: 28,358,258 (GRCm39)	V16E	probably benign	Het
Ncoa1	G	A	12: 4,372,978 (GRCm39)	T141I	possibly damaging	Het
Ndst2	G	T	14: 20,779,911 (GRCm39)	R110S	probably damaging	Het
Nlrp2	A	G	7: 5,331,616 (GRCm39)	V260A	probably damaging	Het
Or4d10	A	G	19: 12,051,576 (GRCm39)	I140T	probably benign	Het
Or51a6	A	T	7: 102,604,460 (GRCm39)	V116E	probably damaging	Het
Or5p1	A	G	7: 107,916,959 (GRCm39)	N286S	probably damaging	Het
Or7g16	A	T	9: 18,726,904 (GRCm39)	S229T	probably benign	Het
Pah	T	C	10: 87,406,148 (GRCm39)	V262A	probably damaging	Het
Pcnt	T	G	10: 76,205,738 (GRCm39)	E2538A	probably damaging	Het
Pdxk	T	A	10: 78,282,810 (GRCm39)	I162F	probably damaging	Het
Plod2	T	C	9: 92,455,650 (GRCm39)	F110L	probably damaging	Het
Pm20d2	A	T	4: 33,187,186 (GRCm39)	L154Q	probably damaging	Het
Podxl2	C	T	6: 88,820,566 (GRCm39)	V445I	possibly damaging	Het
Ppp1r3a	A	T	6: 14,719,235 (GRCm39)	W560R	probably benign	Het
Rasal3	A	G	17: 32,611,683 (GRCm39)	S815P	probably damaging	Het
Rdm1	A	G	11: 101,524,654 (GRCm39)	K196E	probably damaging	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Scn1a	T	C	2: 66,181,286 (GRCm39)	D79G	possibly damaging	Het
Slc22a21	A	G	11: 53,870,329 (GRCm39)	Y119H	possibly damaging	Het
Synrg	C	A	11: 83,930,498 (GRCm39)	A1280E	possibly damaging	Het
Szt2	A	G	4: 118,232,676 (GRCm39)	C2396R	unknown	Het
Trappc3	A	G	4: 126,167,726 (GRCm39)	N95S	probably benign	Het
Tulp4	C	T	17: 6,282,055 (GRCm39)	H695Y	probably damaging	Het
Ush2a	T	A	1: 188,113,681 (GRCm39)	D633E	probably benign	Het
Wasl	G	A	6: 24,633,186 (GRCm39)	P151S	probably benign	Het
Wwp2	A	G	8: 108,209,988 (GRCm39)	N122S	probably benign	Het
Zfp51	A	G	17: 21,683,831 (GRCm39)	R149G	possibly damaging	Het
Zfp764	A	G	7: 127,003,887 (GRCm39)	S415P	possibly damaging	Het

Other mutations in Stip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01325:Stip1	APN	19	6,998,464 (GRCm39)	unclassified	probably benign
IGL02506:Stip1	APN	19	7,012,857 (GRCm39)	splice site	probably benign
IGL02515:Stip1	APN	19	6,999,487 (GRCm39)	missense	probably benign	0.23
IGL03009:Stip1	APN	19	6,998,489 (GRCm39)	missense	probably damaging	1.00
Whisp	UTSW	19	6,999,178 (GRCm39)	missense	possibly damaging	0.92
R1768:Stip1	UTSW	19	6,999,165 (GRCm39)	missense	probably damaging	1.00
R3081:Stip1	UTSW	19	7,013,016 (GRCm39)	missense	probably benign	0.42
R4530:Stip1	UTSW	19	7,013,026 (GRCm39)	missense	probably benign	0.04
R4965:Stip1	UTSW	19	7,012,938 (GRCm39)	missense	probably benign	0.41
R5638:Stip1	UTSW	19	7,009,883 (GRCm39)	missense	probably damaging	1.00
R5776:Stip1	UTSW	19	6,999,393 (GRCm39)	critical splice donor site	probably null
R5840:Stip1	UTSW	19	6,999,436 (GRCm39)	missense	possibly damaging	0.86
R7064:Stip1	UTSW	19	7,012,925 (GRCm39)	missense	probably benign	0.18
R7096:Stip1	UTSW	19	6,999,178 (GRCm39)	missense	possibly damaging	0.92
R7111:Stip1	UTSW	19	6,999,178 (GRCm39)	missense	possibly damaging	0.92
R7116:Stip1	UTSW	19	6,999,178 (GRCm39)	missense	possibly damaging	0.92
R7117:Stip1	UTSW	19	6,999,178 (GRCm39)	missense	possibly damaging	0.92
R7127:Stip1	UTSW	19	6,999,178 (GRCm39)	missense	possibly damaging	0.92
R7129:Stip1	UTSW	19	6,999,178 (GRCm39)	missense	possibly damaging	0.92
R7130:Stip1	UTSW	19	6,999,178 (GRCm39)	missense	possibly damaging	0.92
R7132:Stip1	UTSW	19	6,999,178 (GRCm39)	missense	possibly damaging	0.92
R7776:Stip1	UTSW	19	6,999,141 (GRCm39)	missense	probably benign	0.06
R8293:Stip1	UTSW	19	7,011,618 (GRCm39)	missense	probably benign
R8924:Stip1	UTSW	19	7,002,687 (GRCm39)	missense	probably damaging	1.00
Z1176:Stip1	UTSW	19	6,999,676 (GRCm39)	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTCAGGCACATAACCTC -3'
(R):5'- AAGGTAAGCTGCTGTTGGCC -3'

Sequencing Primer
(F):5'- GAATGATAGAATTCCCTCTCACTTC -3'
(R):5'- AAGCTGCTGTTGGCCTATAAC -3'

Posted On

2019-05-15