Incidental Mutation 'R1454:Hspa9'
| ID |
162234 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hspa9
|
| Ensembl Gene |
ENSMUSG00000024359 |
| Gene Name |
heat shock protein 9 |
| Synonyms |
Hsp74, mthsp70, GRP75, Hsc74, mot-2, Hspa9a, PBP74, CSA, C3H-specific antigen, mortalin, Hsp74a |
| MMRRC Submission |
039509-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
R1454 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
35070467-35087404 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 35071659 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 647
(L647H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025217
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025217]
|
| AlphaFold |
P38647 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025217
AA Change: L647H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025217
Gene: ENSMUSG00000024359
AA Change: L647H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
26 |
N/A |
INTRINSIC |
|
Pfam:HSP70
|
55 |
653 |
2.7e-270 |
PFAM |
|
Pfam:FGGY_C
|
283 |
429 |
3e-8 |
PFAM |
|
low complexity region
|
657 |
679 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083970
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158614
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172829
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173701
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 89.2%
|
| Validation Efficiency |
97% (58/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the heat shock protein 70 gene family. The encoded protein is primarily localized to the mitochondria but is also found in the endoplasmic reticulum, plasma membrane and cytoplasmic vesicles. This protein is a heat-shock cognate protein. This protein plays a role in cell proliferation, stress response and maintenance of the mitochondria. A pseudogene of this gene is found on chromosome 2.[provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality while heterozygotes display decreased pre-B cell number. [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 |
|---|
| Adamts5 |
A |
G |
16: 85,666,881 (GRCm39) |
V537A |
possibly damaging |
Het |
| Adcy10 |
A |
T |
1: 165,342,949 (GRCm39) |
I272F |
possibly damaging |
Het |
| Adcy6 |
A |
G |
15: 98,502,609 (GRCm39) |
S2P |
probably damaging |
Het |
| Agap1 |
A |
G |
1: 89,765,528 (GRCm39) |
|
probably null |
Het |
| Aldh3a2 |
A |
G |
11: 61,155,928 (GRCm39) |
V116A |
probably benign |
Het |
| Ankdd1b |
A |
T |
13: 96,569,913 (GRCm39) |
|
probably null |
Het |
| Antxrl |
G |
A |
14: 33,782,906 (GRCm39) |
V233I |
probably damaging |
Het |
| Atp8b5 |
A |
G |
4: 43,302,590 (GRCm39) |
I38V |
probably benign |
Het |
| Atxn7l2 |
A |
G |
3: 108,115,748 (GRCm39) |
|
probably benign |
Het |
| Bfsp2 |
A |
T |
9: 103,357,424 (GRCm39) |
M1K |
probably null |
Het |
| Camsap3 |
T |
A |
8: 3,653,968 (GRCm39) |
I520N |
possibly damaging |
Het |
| Cenpc1 |
C |
T |
5: 86,161,369 (GRCm39) |
V854I |
possibly damaging |
Het |
| Csnk2a1 |
T |
C |
2: 152,099,347 (GRCm39) |
L88S |
probably damaging |
Het |
| Dcaf17 |
A |
G |
2: 70,903,517 (GRCm39) |
N171D |
probably damaging |
Het |
| Dctn1 |
G |
C |
6: 83,174,490 (GRCm39) |
A1077P |
possibly damaging |
Het |
| Dock1 |
T |
C |
7: 134,453,338 (GRCm39) |
|
probably benign |
Het |
| Egfr |
A |
T |
11: 16,839,920 (GRCm39) |
I645L |
probably benign |
Het |
| Gdpd1 |
T |
G |
11: 86,950,335 (GRCm39) |
K79N |
possibly damaging |
Het |
| Ggt5 |
A |
T |
10: 75,445,742 (GRCm39) |
L432F |
probably benign |
Het |
| Gm11060 |
A |
G |
2: 104,924,097 (GRCm39) |
T22A |
unknown |
Het |
| Gpr132 |
G |
A |
12: 112,815,860 (GRCm39) |
T322I |
possibly damaging |
Het |
| Grin1 |
G |
A |
2: 25,182,442 (GRCm39) |
R940* |
probably null |
Het |
| Hip1 |
T |
C |
5: 135,467,486 (GRCm39) |
T316A |
probably benign |
Het |
| Hnrnpm |
A |
G |
17: 33,885,462 (GRCm39) |
|
probably benign |
Het |
| Hsd3b5 |
G |
A |
3: 98,526,846 (GRCm39) |
T200I |
probably benign |
Het |
| Itgad |
T |
C |
7: 127,791,309 (GRCm39) |
I727T |
probably benign |
Het |
| Kcnma1 |
T |
C |
14: 23,513,268 (GRCm39) |
D522G |
probably damaging |
Het |
| Lipf |
C |
T |
19: 33,948,132 (GRCm39) |
|
probably benign |
Het |
| Ly6i |
T |
C |
15: 74,854,904 (GRCm39) |
D2G |
possibly damaging |
Het |
| Mast1 |
G |
A |
8: 85,647,264 (GRCm39) |
P631L |
probably damaging |
Het |
| Mmp1b |
G |
C |
9: 7,386,693 (GRCm39) |
L144V |
probably damaging |
Het |
| Msh6 |
A |
G |
17: 88,292,186 (GRCm39) |
S314G |
probably benign |
Het |
| Myo5c |
G |
A |
9: 75,170,348 (GRCm39) |
V493I |
possibly damaging |
Het |
| Nefm |
A |
G |
14: 68,358,828 (GRCm39) |
L402P |
probably damaging |
Het |
| Nrxn2 |
T |
C |
19: 6,531,476 (GRCm39) |
F697S |
probably damaging |
Het |
| Or13c7b |
A |
T |
4: 43,820,639 (GRCm39) |
C241S |
probably damaging |
Het |
| Pex13 |
A |
G |
11: 23,599,422 (GRCm39) |
I363T |
probably benign |
Het |
| Plcb3 |
T |
C |
19: 6,932,414 (GRCm39) |
R1082G |
possibly damaging |
Het |
| Psg28 |
A |
T |
7: 18,161,889 (GRCm39) |
S205T |
possibly damaging |
Het |
| Pxt1 |
C |
A |
17: 29,153,756 (GRCm39) |
V26L |
possibly damaging |
Het |
| Ripk2 |
G |
A |
4: 16,163,239 (GRCm39) |
T53M |
probably damaging |
Het |
| Slc5a9 |
A |
G |
4: 111,741,161 (GRCm39) |
V495A |
probably benign |
Het |
| Snrpa |
T |
C |
7: 26,892,362 (GRCm39) |
K66R |
probably benign |
Het |
| Srgap1 |
T |
A |
10: 121,732,643 (GRCm39) |
E145V |
probably damaging |
Het |
| Suz12 |
A |
G |
11: 79,922,939 (GRCm39) |
T694A |
probably benign |
Het |
| Tatdn2 |
T |
A |
6: 113,681,288 (GRCm39) |
D440E |
probably benign |
Het |
| Tbc1d21 |
A |
G |
9: 58,270,096 (GRCm39) |
|
probably null |
Het |
| Tbc1d31 |
T |
A |
15: 57,815,034 (GRCm39) |
Y570* |
probably null |
Het |
| Tbc1d32 |
A |
T |
10: 56,053,575 (GRCm39) |
|
probably benign |
Het |
| Tdrd5 |
G |
C |
1: 156,087,406 (GRCm39) |
Q839E |
probably benign |
Het |
| Tecpr2 |
A |
G |
12: 110,935,387 (GRCm39) |
N1402S |
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,953,153 (GRCm39) |
D921G |
probably damaging |
Het |
| Tll1 |
A |
G |
8: 64,491,524 (GRCm39) |
V803A |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Trpm4 |
T |
C |
7: 44,966,480 (GRCm39) |
E461G |
probably damaging |
Het |
| Zp3 |
T |
A |
5: 136,013,042 (GRCm39) |
I152N |
probably damaging |
Het |
|
| Other mutations in Hspa9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00401:Hspa9
|
APN |
18 |
35,071,633 (GRCm39) |
splice site |
probably benign |
|
|
IGL01939:Hspa9
|
APN |
18 |
35,071,761 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02008:Hspa9
|
APN |
18 |
35,081,028 (GRCm39) |
nonsense |
probably null |
|
|
IGL02604:Hspa9
|
APN |
18 |
35,087,266 (GRCm39) |
missense |
unknown |
|
|
Chiri-san
|
UTSW |
18 |
35,072,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0238:Hspa9
|
UTSW |
18 |
35,079,699 (GRCm39) |
nonsense |
probably null |
|
|
R0238:Hspa9
|
UTSW |
18 |
35,079,699 (GRCm39) |
nonsense |
probably null |
|
|
R0278:Hspa9
|
UTSW |
18 |
35,073,963 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0613:Hspa9
|
UTSW |
18 |
35,081,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1414:Hspa9
|
UTSW |
18 |
35,071,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2013:Hspa9
|
UTSW |
18 |
35,079,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2014:Hspa9
|
UTSW |
18 |
35,079,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2015:Hspa9
|
UTSW |
18 |
35,079,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2936:Hspa9
|
UTSW |
18 |
35,081,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4261:Hspa9
|
UTSW |
18 |
35,072,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4622:Hspa9
|
UTSW |
18 |
35,082,090 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4819:Hspa9
|
UTSW |
18 |
35,072,441 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5056:Hspa9
|
UTSW |
18 |
35,071,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5223:Hspa9
|
UTSW |
18 |
35,085,724 (GRCm39) |
splice site |
probably null |
|
|
R5666:Hspa9
|
UTSW |
18 |
35,087,300 (GRCm39) |
missense |
probably null |
|
|
R5820:Hspa9
|
UTSW |
18 |
35,076,227 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5944:Hspa9
|
UTSW |
18 |
35,082,076 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6460:Hspa9
|
UTSW |
18 |
35,085,765 (GRCm39) |
missense |
probably benign |
|
|
R7404:Hspa9
|
UTSW |
18 |
35,076,329 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7412:Hspa9
|
UTSW |
18 |
35,082,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7637:Hspa9
|
UTSW |
18 |
35,071,740 (GRCm39) |
missense |
not run |
|
|
R8524:Hspa9
|
UTSW |
18 |
35,087,297 (GRCm39) |
missense |
unknown |
|
|
R8830:Hspa9
|
UTSW |
18 |
35,081,157 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8987:Hspa9
|
UTSW |
18 |
35,080,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9028:Hspa9
|
UTSW |
18 |
35,075,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9184:Hspa9
|
UTSW |
18 |
35,082,168 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9709:Hspa9
|
UTSW |
18 |
35,073,294 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
Z1177:Hspa9
|
UTSW |
18 |
35,076,198 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGCCAGAACTTCCAGAACCTTCC -3'
(R):5'- AAGGACCAGTTGCCTGCTGATG -3'
Sequencing Primer
(F):5'- AGAACCTTCCCGTTCAGATG -3'
(R):5'- GCCTGCTGATGAGGTAACAATTC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation