Mutagenetix > Incidental Mutation

Incidental Mutation 'R7064:Stip1'

548484

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

045160-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7064 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

6998070-7017335 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7012925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 53 (D53G)

Ref Sequence

ENSEMBL: ENSMUSP00000025918 (fasta)

Gene Model

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

AlphaFold

Q60864

Predicted Effect

probably benign
Transcript: ENSMUST00000025918
AA Change: D53G

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000025918
Gene: ENSMUSG00000024966
AA Change: D53G

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	C	8: 60,984,746 (GRCm39)	I263T	probably damaging	Het
Adamtsl1	C	T	4: 86,260,278 (GRCm39)	P830S	possibly damaging	Het
Adrb1	T	C	19: 56,711,456 (GRCm39)	F218S	probably damaging	Het
Ahnak2	T	C	12: 112,746,919 (GRCm39)		probably benign	Het
Arsj	T	A	3: 126,231,986 (GRCm39)	V244E	probably damaging	Het
Atm	T	C	9: 53,419,181 (GRCm39)	E757G	probably benign	Het
AU040320	A	G	4: 126,685,865 (GRCm39)	D147G	probably benign	Het
Btnl10	A	T	11: 58,810,134 (GRCm39)	M92L	possibly damaging	Het
Chd6	T	C	2: 160,791,983 (GRCm39)	D2458G	probably damaging	Het
Cntn3	T	C	6: 102,250,772 (GRCm39)	I259V	probably damaging	Het
Ctns	A	G	11: 73,077,218 (GRCm39)	V250A	probably benign	Het
Cxxc1	T	A	18: 74,353,678 (GRCm39)		probably null	Het
Cyp2a4	A	T	7: 26,011,732 (GRCm39)	M318L	probably benign	Het
Dchs1	A	G	7: 105,412,392 (GRCm39)	L1302P	probably damaging	Het
Decr1	C	A	4: 15,945,392 (GRCm39)			Het
Dmbx1	T	C	4: 115,775,465 (GRCm39)	N272D	probably damaging	Het
Dsel	C	A	1: 111,790,577 (GRCm39)		probably benign	Het
Dspp	A	C	5: 104,324,804 (GRCm39)	D389A	possibly damaging	Het
Ero1a	T	C	14: 45,544,049 (GRCm39)	T52A	probably damaging	Het
Fam186a	T	C	15: 99,839,557 (GRCm39)	E2229G	unknown	Het
Gabrd	C	T	4: 155,472,803 (GRCm39)	V127M	probably damaging	Het
Gpc2	A	T	5: 138,277,172 (GRCm39)	F85Y	probably damaging	Het
Gucy2g	A	G	19: 55,198,764 (GRCm39)	L793S	probably benign	Het
Irag1	C	G	7: 110,495,061 (GRCm39)	E455Q	probably damaging	Het
Itpr3	G	C	17: 27,308,269 (GRCm39)	G298R	probably damaging	Het
Kalrn	A	T	16: 34,038,261 (GRCm39)	C1024S	probably damaging	Het
Krt40	T	C	11: 99,430,954 (GRCm39)	Y185C	probably benign	Het
Lmo7	G	A	14: 102,121,615 (GRCm39)	D227N	probably damaging	Het
Mmrn1	T	A	6: 60,965,524 (GRCm39)	L1184*	probably null	Het
Or10s1	T	A	9: 39,986,109 (GRCm39)	Y173N	probably damaging	Het
Or14j2	T	A	17: 37,885,634 (GRCm39)	R227W	probably damaging	Het
Or4c15	T	A	2: 88,759,853 (GRCm39)	M269L	probably benign	Het
Parp9	T	G	16: 35,774,042 (GRCm39)	V338G	probably benign	Het
Pcdh15	G	A	10: 74,466,446 (GRCm39)	E888K	possibly damaging	Het
Pcdh9	C	T	14: 94,123,585 (GRCm39)	E862K	probably damaging	Het
Prkdc	A	G	16: 15,608,317 (GRCm39)	T3040A	probably benign	Het
Qser1	T	C	2: 104,617,464 (GRCm39)	E1026G	probably damaging	Het
Rnf20	C	T	4: 49,644,580 (GRCm39)	R282*	probably null	Het
Rpgrip1l	T	A	8: 91,990,148 (GRCm39)	K765*	probably null	Het
Rprd2	G	A	3: 95,672,328 (GRCm39)	T1025M	probably damaging	Het
Scn4a	A	G	11: 106,212,983 (GRCm39)	Y1341H	possibly damaging	Het
Scn5a	C	G	9: 119,318,977 (GRCm39)	D1554H	probably damaging	Het
Septin14	T	C	5: 129,774,870 (GRCm39)	I102V	probably benign	Het
Septin4	A	G	11: 87,481,193 (GRCm39)	T378A	probably benign	Het
Siglec1	C	T	2: 130,925,834 (GRCm39)	G291R	probably benign	Het
Sik2	A	G	9: 50,818,720 (GRCm39)	V418A	probably damaging	Het
Slc9a5	A	G	8: 106,076,078 (GRCm39)	T24A	possibly damaging	Het
Spata31d1b	T	C	13: 59,863,955 (GRCm39)	S368P	probably benign	Het
Stk36	T	C	1: 74,649,979 (GRCm39)	W245R	probably damaging	Het
Stk39	A	T	2: 68,189,156 (GRCm39)		probably null	Het
Tacr2	T	C	10: 62,097,276 (GRCm39)	M252T	probably damaging	Het
Tasor	C	T	14: 27,194,288 (GRCm39)	P1163S	probably benign	Het
Terb1	A	T	8: 105,215,186 (GRCm39)	N263K	probably benign	Het
Tgm5	T	C	2: 120,883,995 (GRCm39)	M333V	probably benign	Het
Tmem45a	T	C	16: 56,642,767 (GRCm39)	M135V	probably benign	Het
Trmt13	T	A	3: 116,376,346 (GRCm39)	K348N	probably damaging	Het
Trmt2a	A	T	16: 18,070,868 (GRCm39)	M534L	probably damaging	Het
Ttll13	G	A	7: 79,906,778 (GRCm39)	R513K	probably null	Het
Vmn1r228	T	A	17: 20,997,285 (GRCm39)	I78L	probably benign	Het
Washc3	T	C	10: 88,081,635 (GRCm39)	V173A	possibly damaging	Het
Zc2hc1b	A	T	10: 13,047,049 (GRCm39)	C21S	probably damaging	Het
Zfp944	T	A	17: 22,558,560 (GRCm39)	H229L	probably damaging	Het
Zfp985	T	A	4: 147,667,573 (GRCm39)	I147N	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGAAGTAAGTGTTCCCTTCAAGG -3'
(R):5'- AAATCAGTTCTGTAGGGTGAAGCTG -3'

Sequencing Primer
(F):5'- CTTCAAGGGGTGCCAGGGTAG -3'
(R):5'- AAGCTGTATTGATGCCTGCC -3'

Posted On

2019-05-13