Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02506:Stip1'

296362

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stip1

Ensembl Gene

ENSMUSG00000024966

Gene Name

stress-induced phosphoprotein 1

Synonyms

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02506

Quality Score

Status

Chromosome

Chromosomal Location

6998070-7017335 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 7012857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000025918 (fasta)

Gene Model

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

AlphaFold

Q60864

Predicted Effect

probably benign
Transcript: ENSMUST00000025918

SMART Domains

Protein: ENSMUSP00000025918
Gene: ENSMUSG00000024966

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

Coding Region Coverage

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	A	G	17: 84,999,916 (GRCm39)	E189G	possibly damaging	Het
Acad11	T	C	9: 103,968,931 (GRCm39)		probably null	Het
Adcy7	G	T	8: 89,044,571 (GRCm39)	R488L	probably damaging	Het
Akt1	C	T	12: 112,625,714 (GRCm39)		probably benign	Het
Ano9	C	T	7: 140,682,167 (GRCm39)		probably benign	Het
Arhgap15	A	G	2: 43,953,820 (GRCm39)	D182G	possibly damaging	Het
Asxl3	T	A	18: 22,585,456 (GRCm39)	V127D	probably benign	Het
Cacna1g	A	G	11: 94,319,955 (GRCm39)	M1407T	probably damaging	Het
Card9	A	C	2: 26,244,427 (GRCm39)		probably benign	Het
Cdh5	A	G	8: 104,864,454 (GRCm39)	N472D	probably damaging	Het
Ceacam2	T	A	7: 25,227,379 (GRCm39)	T343S	probably benign	Het
Cic	T	A	7: 24,990,282 (GRCm39)	C1928S	probably benign	Het
Clk3	C	T	9: 57,661,927 (GRCm39)	W31*	probably null	Het
Cntn4	A	G	6: 106,595,349 (GRCm39)	T489A	probably benign	Het
Crispld1	G	A	1: 17,826,529 (GRCm39)	R431H	probably damaging	Het
Crmp1	T	A	5: 37,436,199 (GRCm39)		probably benign	Het
Cyld	A	G	8: 89,456,218 (GRCm39)	T423A	possibly damaging	Het
Cyp3a44	A	T	5: 145,736,198 (GRCm39)	I84N	probably damaging	Het
D2hgdh	A	G	1: 93,757,507 (GRCm39)	N141D	probably damaging	Het
Dip2b	T	A	15: 100,055,162 (GRCm39)	L341Q	probably damaging	Het
F3	C	T	3: 121,525,323 (GRCm39)	T53I	possibly damaging	Het
Fam227b	T	A	2: 125,845,831 (GRCm39)	Y386F	probably benign	Het
Fmn1	A	T	2: 113,355,640 (GRCm39)	T694S	unknown	Het
Gcnt2	T	A	13: 41,040,856 (GRCm39)	V5E	probably benign	Het
Herpud1	G	T	8: 95,121,270 (GRCm39)	E355*	probably null	Het
Igf1r	T	C	7: 67,843,144 (GRCm39)	S752P	probably benign	Het
Iqsec1	T	C	6: 90,649,057 (GRCm39)	I687V	possibly damaging	Het
Kdm5a	T	C	6: 120,409,110 (GRCm39)	S1598P	probably damaging	Het
Klk1b9	A	G	7: 43,445,063 (GRCm39)	E185G	probably benign	Het
Myo16	G	T	8: 10,440,217 (GRCm39)	R423L	probably damaging	Het
Myo7b	T	C	18: 32,100,207 (GRCm39)	E1609G	probably damaging	Het
Nom1	T	A	5: 29,644,814 (GRCm39)		probably benign	Het
Nomo1	A	G	7: 45,727,480 (GRCm39)	I1040V	possibly damaging	Het
Or8b39	G	A	9: 37,996,741 (GRCm39)	G203D	probably damaging	Het
Paqr9	T	C	9: 95,442,748 (GRCm39)	V246A	probably benign	Het
Pfkfb4	A	T	9: 108,859,404 (GRCm39)	D437V	probably benign	Het
Phldb1	G	T	9: 44,622,223 (GRCm39)	D797E	probably benign	Het
Pkd1l3	A	G	8: 110,374,132 (GRCm39)	E1399G	probably damaging	Het
Plekhs1	G	A	19: 56,460,198 (GRCm39)	C97Y	probably damaging	Het
Plscr4	A	T	9: 92,372,044 (GRCm39)	I272L	possibly damaging	Het
Prlhr	A	C	19: 60,456,366 (GRCm39)	Y67D	probably damaging	Het
Rab3gap2	A	G	1: 184,984,221 (GRCm39)		probably benign	Het
Rad23b	T	C	4: 55,382,511 (GRCm39)	V238A	probably benign	Het
Sel1l2	T	C	2: 140,117,380 (GRCm39)	T164A	possibly damaging	Het
Serpinh1	T	A	7: 98,996,199 (GRCm39)	K295M	probably damaging	Het
Slc45a4	T	C	15: 73,453,687 (GRCm39)	E770G	probably benign	Het
Spag4	T	C	2: 155,911,142 (GRCm39)	L390P	probably damaging	Het
Tacr1	A	G	6: 82,380,739 (GRCm39)	N50S	probably damaging	Het
Tg	T	C	15: 66,613,443 (GRCm39)	V433A	possibly damaging	Het
Ubap1l	T	A	9: 65,276,493 (GRCm39)		probably benign	Het
Usp40	A	T	1: 87,909,738 (GRCm39)	I572K	probably damaging	Het
Vps13b	G	T	15: 35,917,308 (GRCm39)	E3717D	probably damaging	Het
Wdr81	T	C	11: 75,335,232 (GRCm39)	N1778S	probably benign	Het
Ylpm1	T	A	12: 85,095,965 (GRCm39)	F1162Y	probably damaging	Het
Zbtb10	T	A	3: 9,330,297 (GRCm39)	F552I	probably damaging	Het
Zfp507	T	C	7: 35,475,891 (GRCm39)	I811V	probably damaging	Het
Zfp663	A	T	2: 165,195,871 (GRCm39)	V116D	probably benign	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
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
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

Posted On

2015-04-16