Mutagenetix > Incidental Mutation

Incidental Mutation 'R7129:Stip1'

552551

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

045214-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7129 (G1)

Quality Score

225.009

Status

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: 99.0%

Validation Efficiency

98% (58/59)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	G	8: 73,209,199 (GRCm39)	E443G	probably damaging	Het
2700049A03Rik	A	G	12: 71,263,004 (GRCm39)		probably null	Het
3110082I17Rik	A	G	5: 139,349,738 (GRCm39)	Y104H	probably damaging	Het
Abcg4	T	C	9: 44,190,681 (GRCm39)	K282E	probably benign	Het
Adamts17	T	C	7: 66,770,758 (GRCm39)	S956P	probably damaging	Het
Adh1	T	C	3: 137,986,235 (GRCm39)	V74A	probably damaging	Het
Akt1	A	T	12: 112,626,083 (GRCm39)	M63K	probably benign	Het
Arfrp1	G	A	2: 181,001,344 (GRCm39)	R177*	probably null	Het
Arl11	A	G	14: 61,548,346 (GRCm39)	E52G	possibly damaging	Het
BC051019	T	C	7: 109,319,825 (GRCm39)	S10G		Het
Bfsp2	T	A	9: 103,357,118 (GRCm39)	E103V	probably damaging	Het
Bms1	G	T	6: 118,380,122 (GRCm39)	C728*	probably null	Het
Cachd1	T	G	4: 100,775,263 (GRCm39)	N159K	probably null	Het
Cd38	A	G	5: 44,067,651 (GRCm39)	N294S	probably benign	Het
Cfap54	T	C	10: 92,852,433 (GRCm39)	N891S	probably benign	Het
Chsy3	A	T	18: 59,543,370 (GRCm39)	H836L	probably damaging	Het
Cldn16	A	T	16: 26,301,388 (GRCm39)	D232V	probably damaging	Het
Dhx33	A	T	11: 70,884,689 (GRCm39)	I425N	probably damaging	Het
Dock4	A	G	12: 40,878,878 (GRCm39)	N1506D	probably damaging	Het
Dok7	T	C	5: 35,236,392 (GRCm39)	S227P	probably damaging	Het
Elf2	T	C	3: 51,168,432 (GRCm39)	R201G	probably damaging	Het
Elp1	T	C	4: 56,787,944 (GRCm39)	H329R	probably damaging	Het
Etaa1	T	C	11: 17,890,339 (GRCm39)	R841G	possibly damaging	Het
Exoc4	T	C	6: 33,948,934 (GRCm39)	Y926H	probably damaging	Het
Fras1	A	G	5: 96,929,143 (GRCm39)	H3849R	probably benign	Het
Hapln3	C	T	7: 78,771,572 (GRCm39)	G106R	probably damaging	Het
Hmcn1	A	C	1: 150,452,961 (GRCm39)		probably null	Het
Ifitm7	A	T	16: 13,801,600 (GRCm39)	I53N	possibly damaging	Het
Il6ra	T	C	3: 89,778,554 (GRCm39)	N433D	probably damaging	Het
Iqch	C	T	9: 63,329,191 (GRCm39)	V1048I	probably benign	Het
Kif20a	A	G	18: 34,765,588 (GRCm39)	T862A	probably benign	Het
Mcrs1	G	A	15: 99,146,609 (GRCm39)	L141F	probably damaging	Het
Nkx3-2	A	G	5: 41,919,017 (GRCm39)	S324P	probably damaging	Het
Nmi	A	T	2: 51,845,936 (GRCm39)		probably null	Het
Nufip1	A	G	14: 76,372,325 (GRCm39)	K480E	possibly damaging	Het
Oit3	T	A	10: 59,264,166 (GRCm39)	I323F	probably damaging	Het
Or2ag17	T	C	7: 106,389,690 (GRCm39)	K173E	probably benign	Het
Or5b98	A	T	19: 12,931,478 (GRCm39)	H175L	possibly damaging	Het
Pcdha11	A	G	18: 37,140,291 (GRCm39)	E640G	probably benign	Het
Phip	C	T	9: 82,759,353 (GRCm39)	V1366I	probably damaging	Het
Plin5	T	C	17: 56,422,174 (GRCm39)	M162V	probably null	Het
Podxl2	A	G	6: 88,820,487 (GRCm39)		probably null	Het
Ptprb	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,119,582 (GRCm39)		probably benign	Het
Rab4a	A	T	8: 124,554,069 (GRCm39)	D40V	probably benign	Het
Scn7a	A	G	2: 66,530,537 (GRCm39)	F603L	probably benign	Het
Slfn5	A	T	11: 82,851,976 (GRCm39)	K701*	probably null	Het
Speer4f2	A	G	5: 17,582,446 (GRCm39)	D223G		Het
Tas2r117	A	T	6: 132,780,350 (GRCm39)	T163S	probably benign	Het
Tecta	T	C	9: 42,259,287 (GRCm39)	D1532G	probably damaging	Het
Tmem63a	T	C	1: 180,782,441 (GRCm39)	I146T	probably damaging	Het
Ttn	C	A	2: 76,646,515 (GRCm39)	G12844W	probably damaging	Het
Usp22	T	C	11: 61,053,775 (GRCm39)	I190V	probably damaging	Het
Usp24	T	C	4: 106,219,412 (GRCm39)	I536T	probably damaging	Het
Vmn1r23	A	G	6: 57,903,061 (GRCm39)	V239A	possibly damaging	Het
Vmn1r9	A	C	6: 57,048,611 (GRCm39)	T229P	probably damaging	Het
Zbtb21	AGCTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGC	AGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGC	16: 97,752,887 (GRCm39)		probably benign	Het
Zbtb8a	G	C	4: 129,254,188 (GRCm39)	A102G	probably damaging	Het
Zfp51	T	C	17: 21,681,971 (GRCm39)	W57R	probably 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
R7109: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
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