Incidental Mutation 'IGL03009:Stip1'
| ID |
407688 |
| 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)
|
| Stock # |
IGL03009
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
6998070-7017335 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 6998489 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 537
(V537E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025918
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025918]
[ENSMUST00000040772]
|
| AlphaFold |
Q60864 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025918
AA Change: V537E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000025918
Gene: ENSMUSG00000024966
AA Change: V537E
| 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 |
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adsl |
C |
A |
15: 80,836,444 (GRCm39) |
S67* |
probably null |
Het |
| Arrdc4 |
A |
G |
7: 68,389,241 (GRCm39) |
V411A |
probably damaging |
Het |
| Cnnm2 |
A |
G |
19: 46,865,794 (GRCm39) |
Y794C |
probably damaging |
Het |
| Flt4 |
G |
T |
11: 49,517,951 (GRCm39) |
K330N |
probably benign |
Het |
| Foxs1 |
T |
C |
2: 152,774,849 (GRCm39) |
H68R |
probably damaging |
Het |
| Gm21969 |
C |
T |
4: 139,334,965 (GRCm39) |
S333L |
probably damaging |
Het |
| Gm7008 |
T |
A |
12: 40,273,546 (GRCm39) |
|
probably benign |
Het |
| Gmppa |
A |
G |
1: 75,416,014 (GRCm39) |
Y137C |
probably damaging |
Het |
| Grwd1 |
A |
G |
7: 45,476,561 (GRCm39) |
|
probably benign |
Het |
| Kdm5a |
C |
T |
6: 120,407,047 (GRCm39) |
R1421W |
probably damaging |
Het |
| Myo5b |
A |
G |
18: 74,894,039 (GRCm39) |
T1749A |
possibly damaging |
Het |
| Neb |
A |
G |
2: 52,069,468 (GRCm39) |
|
probably benign |
Het |
| Ntng1 |
T |
C |
3: 109,842,018 (GRCm39) |
K252E |
possibly damaging |
Het |
| Nup133 |
A |
G |
8: 124,660,239 (GRCm39) |
I353T |
possibly damaging |
Het |
| Or51ab3 |
C |
A |
7: 103,201,734 (GRCm39) |
C247* |
probably null |
Het |
| Osbpl11 |
T |
C |
16: 33,062,100 (GRCm39) |
|
probably benign |
Het |
| Pcsk9 |
C |
T |
4: 106,311,542 (GRCm39) |
G230S |
probably damaging |
Het |
| Polr1b |
A |
G |
2: 128,967,988 (GRCm39) |
N1127S |
probably damaging |
Het |
| Rasgrf1 |
A |
T |
9: 89,873,756 (GRCm39) |
K688N |
possibly damaging |
Het |
| Rhot1 |
A |
G |
11: 80,111,080 (GRCm39) |
|
probably null |
Het |
| Rims2 |
A |
T |
15: 39,430,393 (GRCm39) |
Q1159L |
possibly damaging |
Het |
| Ros1 |
T |
C |
10: 52,022,003 (GRCm39) |
I594V |
probably benign |
Het |
| Slc43a2 |
G |
A |
11: 75,463,202 (GRCm39) |
C536Y |
probably benign |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Vav1 |
A |
T |
17: 57,603,582 (GRCm39) |
T94S |
probably benign |
Het |
| Zfr |
A |
T |
15: 12,162,321 (GRCm39) |
I824F |
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 |
|
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 |
2016-08-02 |
Incidental Mutation