Incidental Mutation 'R6731:Hsp90b1'
| ID |
530068 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hsp90b1
|
| Ensembl Gene |
ENSMUSG00000020048 |
| Gene Name |
heat shock protein 90, beta (Grp94), member 1 |
| Synonyms |
ERp99, gp96, GRP94, tumor rejection antigen (gp96) 1, Tra-1, endoplasmin, 90 kDa, Targ2, Tra1 |
| MMRRC Submission |
044849-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6731 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
86526705-86541308 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86537769 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 179
(T179A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020238
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020238]
[ENSMUST00000061458]
[ENSMUST00000075632]
[ENSMUST00000129413]
[ENSMUST00000217747]
|
| AlphaFold |
P08113 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020238
AA Change: T179A
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000020238
Gene: ENSMUSG00000020048
AA Change: T179A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
22 |
34 |
N/A |
INTRINSIC |
|
HATPase_c
|
96 |
255 |
4.96e-9 |
SMART |
|
Pfam:HSP90
|
257 |
781 |
2.5e-233 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061458
|
| SMART Domains |
Protein: ENSMUSP00000062844
Gene: ENSMUSG00000044937
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
216 |
229 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
315 |
N/A |
INTRINSIC |
|
Blast:AAA
|
336 |
401 |
9e-8 |
BLAST |
|
SCOP:d1jpna2
|
338 |
370 |
1e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075632
|
| SMART Domains |
Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
216 |
229 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
315 |
N/A |
INTRINSIC |
|
Pfam:NACHT
|
337 |
515 |
5.4e-10 |
PFAM |
|
SCOP:d1qqea_
|
805 |
1028 |
2e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129178
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129413
|
| SMART Domains |
Protein: ENSMUSP00000122710
Gene: ENSMUSG00000020048
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
9 |
35 |
N/A |
INTRINSIC |
|
Pfam:HSP90
|
39 |
373 |
3.8e-170 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146897
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174945
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217747
|
| Meta Mutation Damage Score |
0.0604 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.3%
|
| Validation Efficiency |
98% (47/48) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of adenosine triphosphate(ATP)-metabolizing molecular chaperones with roles in stabilizing and folding other proteins. The encoded protein is localized to melanosomes and the endoplasmic reticulum. Expression of this protein is associated with a variety of pathogenic states, including tumor formation. There is a microRNA gene located within the 5' exon of this gene. There are pseudogenes for this gene on chromosomes 1 and 15. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality before somite formation with failure of primitive streak formation, absence of the chorion and amnion, and failure of mesoderm formation. [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 |
|---|
| Acta1 |
G |
A |
8: 124,619,956 (GRCm39) |
T128I |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,988,926 (GRCm39) |
D3403E |
possibly damaging |
Het |
| Aldoc |
T |
A |
11: 78,216,918 (GRCm39) |
D319E |
probably benign |
Het |
| Ank3 |
T |
A |
10: 69,849,858 (GRCm39) |
D1108E |
possibly damaging |
Het |
| Ankrd7 |
G |
A |
6: 18,866,653 (GRCm39) |
G58S |
probably damaging |
Het |
| Ass1 |
A |
T |
2: 31,404,796 (GRCm39) |
Y359F |
probably damaging |
Het |
| B3gnt2 |
G |
T |
11: 22,786,888 (GRCm39) |
S100* |
probably null |
Het |
| Cd46 |
T |
C |
1: 194,765,775 (GRCm39) |
|
probably null |
Het |
| Chst5 |
G |
T |
8: 112,616,676 (GRCm39) |
R315S |
probably benign |
Het |
| Cps1 |
T |
C |
1: 67,200,030 (GRCm39) |
S393P |
probably damaging |
Het |
| Dis3l |
T |
C |
9: 64,217,720 (GRCm39) |
|
probably null |
Het |
| Fgg |
T |
C |
3: 82,920,208 (GRCm39) |
F329S |
probably damaging |
Het |
| Kat2a |
A |
T |
11: 100,599,099 (GRCm39) |
M559K |
probably damaging |
Het |
| Klhl41 |
T |
C |
2: 69,505,044 (GRCm39) |
I449T |
probably damaging |
Het |
| Lama5 |
A |
T |
2: 179,830,367 (GRCm39) |
I1880N |
probably benign |
Het |
| Lcp1 |
A |
G |
14: 75,443,629 (GRCm39) |
D215G |
probably damaging |
Het |
| Lrch3 |
A |
G |
16: 32,770,790 (GRCm39) |
T131A |
probably damaging |
Het |
| Mroh6 |
T |
C |
15: 75,760,341 (GRCm39) |
T78A |
probably benign |
Het |
| Naa15 |
T |
G |
3: 51,363,294 (GRCm39) |
V326G |
probably damaging |
Het |
| Nalcn |
T |
A |
14: 123,837,346 (GRCm39) |
Q6L |
probably benign |
Het |
| Nipbl |
T |
A |
15: 8,352,074 (GRCm39) |
I1863L |
probably damaging |
Het |
| Obi1 |
C |
T |
14: 104,716,910 (GRCm39) |
V488I |
probably benign |
Het |
| Os9 |
C |
T |
10: 126,934,412 (GRCm39) |
G408D |
probably benign |
Het |
| Pcbp2 |
T |
C |
15: 102,397,225 (GRCm39) |
S237P |
probably damaging |
Het |
| Pcdhb10 |
G |
A |
18: 37,546,529 (GRCm39) |
R535H |
probably benign |
Het |
| Pex5l |
A |
T |
3: 33,012,947 (GRCm39) |
I320K |
probably damaging |
Het |
| Pgm2 |
T |
C |
5: 64,258,318 (GRCm39) |
F101S |
probably benign |
Het |
| Phf8-ps |
A |
G |
17: 33,285,200 (GRCm39) |
V534A |
probably benign |
Het |
| Poc1b |
T |
A |
10: 98,988,733 (GRCm39) |
D207E |
probably null |
Het |
| Pou6f1 |
T |
C |
15: 100,477,764 (GRCm39) |
I460V |
possibly damaging |
Het |
| Rnf17 |
A |
T |
14: 56,761,807 (GRCm39) |
Q1623H |
possibly damaging |
Het |
| Rpap1 |
T |
C |
2: 119,608,777 (GRCm39) |
N195S |
probably benign |
Het |
| Sacs |
C |
A |
14: 61,418,149 (GRCm39) |
|
probably null |
Het |
| Scube2 |
G |
A |
7: 109,409,944 (GRCm39) |
T643M |
probably damaging |
Het |
| Sele |
C |
T |
1: 163,881,242 (GRCm39) |
L481F |
probably damaging |
Het |
| Stk32a |
A |
G |
18: 43,438,143 (GRCm39) |
Y214C |
probably damaging |
Het |
| Tex44 |
T |
A |
1: 86,354,207 (GRCm39) |
S39T |
probably benign |
Het |
| Tmem135 |
A |
T |
7: 88,893,172 (GRCm39) |
M140K |
possibly damaging |
Het |
| Tox2 |
A |
G |
2: 163,162,297 (GRCm39) |
Y354C |
probably damaging |
Het |
| Trim21 |
A |
T |
7: 102,208,419 (GRCm39) |
F433L |
probably damaging |
Het |
| Trim24 |
T |
C |
6: 37,920,420 (GRCm39) |
F406L |
probably damaging |
Het |
| Ubr1 |
G |
C |
2: 120,786,121 (GRCm39) |
H166Q |
probably null |
Het |
| Wnt16 |
T |
A |
6: 22,297,891 (GRCm39) |
Y252* |
probably null |
Het |
| Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
| Zfp141 |
T |
C |
7: 42,138,924 (GRCm39) |
D36G |
probably damaging |
Het |
| Zfp729a |
C |
T |
13: 67,768,265 (GRCm39) |
V655I |
probably benign |
Het |
| Zfp974 |
A |
T |
7: 27,611,074 (GRCm39) |
V217E |
possibly damaging |
Het |
|
| Other mutations in Hsp90b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01550:Hsp90b1
|
APN |
10 |
86,540,234 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL01671:Hsp90b1
|
APN |
10 |
86,540,189 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01673:Hsp90b1
|
APN |
10 |
86,529,296 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02097:Hsp90b1
|
APN |
10 |
86,527,548 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02124:Hsp90b1
|
APN |
10 |
86,541,222 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02257:Hsp90b1
|
APN |
10 |
86,534,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02339:Hsp90b1
|
APN |
10 |
86,537,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02342:Hsp90b1
|
APN |
10 |
86,531,603 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0329:Hsp90b1
|
UTSW |
10 |
86,530,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0330:Hsp90b1
|
UTSW |
10 |
86,530,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0735:Hsp90b1
|
UTSW |
10 |
86,531,612 (GRCm39) |
splice site |
probably benign |
|
|
R1531:Hsp90b1
|
UTSW |
10 |
86,532,659 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1540:Hsp90b1
|
UTSW |
10 |
86,529,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1711:Hsp90b1
|
UTSW |
10 |
86,530,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1797:Hsp90b1
|
UTSW |
10 |
86,537,609 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2128:Hsp90b1
|
UTSW |
10 |
86,531,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2129:Hsp90b1
|
UTSW |
10 |
86,531,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2903:Hsp90b1
|
UTSW |
10 |
86,539,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4735:Hsp90b1
|
UTSW |
10 |
86,529,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4749:Hsp90b1
|
UTSW |
10 |
86,537,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5011:Hsp90b1
|
UTSW |
10 |
86,532,617 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5650:Hsp90b1
|
UTSW |
10 |
86,529,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5950:Hsp90b1
|
UTSW |
10 |
86,537,609 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6835:Hsp90b1
|
UTSW |
10 |
86,529,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7038:Hsp90b1
|
UTSW |
10 |
86,531,730 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7250:Hsp90b1
|
UTSW |
10 |
86,527,572 (GRCm39) |
missense |
unknown |
|
|
R7343:Hsp90b1
|
UTSW |
10 |
86,528,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8027:Hsp90b1
|
UTSW |
10 |
86,532,594 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8126:Hsp90b1
|
UTSW |
10 |
86,530,246 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8336:Hsp90b1
|
UTSW |
10 |
86,526,968 (GRCm39) |
makesense |
probably null |
|
|
R8768:Hsp90b1
|
UTSW |
10 |
86,541,169 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9024:Hsp90b1
|
UTSW |
10 |
86,541,174 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTTGTTCCACGACCTAGTG -3'
(R):5'- TATGGAACCTGGCTTTTGGC -3'
Sequencing Primer
(F):5'- GTTTCCTCTTGGGTCAGCAATTACAG -3'
(R):5'- TTTGGCATCATGTGAATGTGAAGAAG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation