Incidental Mutation 'R5638:Stip1'
| ID |
440516 |
| 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 |
043168-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5638 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
6998070-7017335 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 7009883 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 213
(P213L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025918
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025918]
|
| AlphaFold |
Q60864 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025918
AA Change: P213L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025918
Gene: ENSMUSG00000024966
AA Change: P213L
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.1%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610028H24Rik |
G |
A |
10: 76,288,729 (GRCm39) |
A96T |
probably benign |
Het |
| A930018M24Rik |
T |
C |
14: 51,134,414 (GRCm39) |
D76G |
possibly damaging |
Het |
| Adamtsl3 |
A |
T |
7: 82,260,958 (GRCm39) |
R1631W |
probably damaging |
Het |
| Alg5 |
C |
T |
3: 54,646,254 (GRCm39) |
H40Y |
probably benign |
Het |
| B3galt1 |
T |
C |
2: 67,949,095 (GRCm39) |
L270P |
probably damaging |
Het |
| Ceacam3 |
A |
G |
7: 16,893,860 (GRCm39) |
Y457C |
probably damaging |
Het |
| Cenpa |
A |
T |
5: 30,830,736 (GRCm39) |
R124W |
probably damaging |
Het |
| Cfap44 |
A |
G |
16: 44,275,894 (GRCm39) |
T1385A |
possibly damaging |
Het |
| Chd9 |
A |
T |
8: 91,738,078 (GRCm39) |
H1570L |
possibly damaging |
Het |
| Cmtm4 |
T |
C |
8: 105,084,356 (GRCm39) |
I113V |
probably benign |
Het |
| Dmxl1 |
T |
C |
18: 50,024,693 (GRCm39) |
I1789T |
possibly damaging |
Het |
| Dpf3 |
G |
A |
12: 83,371,714 (GRCm39) |
R174W |
probably damaging |
Het |
| Dusp26 |
T |
C |
8: 31,584,169 (GRCm39) |
L92P |
probably damaging |
Het |
| Fndc7 |
T |
A |
3: 108,770,208 (GRCm39) |
T659S |
possibly damaging |
Het |
| Fry |
A |
G |
5: 150,282,546 (GRCm39) |
H357R |
possibly damaging |
Het |
| G0s2 |
A |
T |
1: 192,954,859 (GRCm39) |
L75H |
probably damaging |
Het |
| Gm5493 |
A |
G |
17: 22,969,065 (GRCm39) |
T82A |
probably benign |
Het |
| Herc2 |
T |
C |
7: 55,854,164 (GRCm39) |
V3690A |
probably benign |
Het |
| Igf2bp3 |
C |
A |
6: 49,064,734 (GRCm39) |
V537F |
probably damaging |
Het |
| Kntc1 |
C |
T |
5: 123,956,538 (GRCm39) |
R2101W |
possibly damaging |
Het |
| Kpna2rt |
T |
C |
17: 90,217,635 (GRCm39) |
E37G |
probably damaging |
Het |
| Mrgpra6 |
G |
T |
7: 46,835,657 (GRCm39) |
P255T |
probably damaging |
Het |
| Ncor2 |
A |
G |
5: 125,125,364 (GRCm39) |
V229A |
probably benign |
Het |
| Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
| Or6c210 |
T |
A |
10: 129,495,969 (GRCm39) |
I98K |
possibly damaging |
Het |
| Or7g21 |
T |
A |
9: 19,032,676 (GRCm39) |
C142S |
probably benign |
Het |
| Ppt2 |
C |
A |
17: 34,844,823 (GRCm39) |
M140I |
probably benign |
Het |
| Ppwd1 |
A |
G |
13: 104,356,906 (GRCm39) |
I203T |
probably damaging |
Het |
| Prpf6 |
A |
G |
2: 181,287,381 (GRCm39) |
T589A |
probably benign |
Het |
| Psd4 |
T |
C |
2: 24,287,427 (GRCm39) |
L453P |
probably benign |
Het |
| Ptpn14 |
A |
G |
1: 189,519,038 (GRCm39) |
T23A |
probably damaging |
Het |
| Rxrb |
T |
C |
17: 34,256,381 (GRCm39) |
L374P |
probably damaging |
Het |
| Scaf4 |
T |
C |
16: 90,041,198 (GRCm39) |
E710G |
unknown |
Het |
| Sik1 |
C |
T |
17: 32,069,802 (GRCm39) |
V216I |
probably damaging |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Slc30a5 |
T |
A |
13: 100,950,380 (GRCm39) |
K236* |
probably null |
Het |
| Slc38a4 |
A |
C |
15: 96,910,871 (GRCm39) |
S135A |
probably damaging |
Het |
| Slc9a1 |
T |
A |
4: 133,139,571 (GRCm39) |
V263D |
probably damaging |
Het |
| Socs2 |
T |
C |
10: 95,228,745 (GRCm39) |
I168M |
unknown |
Het |
| Spag9 |
C |
A |
11: 93,959,838 (GRCm39) |
D342E |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,469,825 (GRCm39) |
S4508P |
possibly damaging |
Het |
| Stat5b |
C |
A |
11: 100,675,080 (GRCm39) |
E710* |
probably null |
Het |
| Tarbp1 |
A |
T |
8: 127,177,425 (GRCm39) |
L749Q |
probably damaging |
Het |
| Thsd7b |
T |
G |
1: 129,523,270 (GRCm39) |
S24R |
probably benign |
Het |
| Upp2 |
T |
C |
2: 58,680,107 (GRCm39) |
V293A |
probably damaging |
Het |
| Vmn2r65 |
C |
T |
7: 84,590,047 (GRCm39) |
C623Y |
probably damaging |
Het |
| Vps54 |
T |
C |
11: 21,258,799 (GRCm39) |
V742A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGATGAAGCTGTCCCTTTAAG -3'
(R):5'- GTATGCCTTAACTGTAGAGCCATTTC -3'
Sequencing Primer
(F):5'- GAAGCTGTCCCTTTAAGTGTCAGAC -3'
(R):5'- AACTGTAGAGCCATTTCTTCAGC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation