Incidental Mutation 'R1052:Hspa5'
ID |
94010 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hspa5
|
Ensembl Gene |
ENSMUSG00000026864 |
Gene Name |
heat shock protein 5 |
Synonyms |
baffled, mBiP, Grp78, Bip, Sez7, Hsce70, D2Wsu17e, 78kDa, D2Wsu141e, XAP-1 antigen |
MMRRC Submission |
039142-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1052 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
34662102-34666541 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 34665110 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 424
(T424A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097747
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028222]
[ENSMUST00000100171]
[ENSMUST00000113086]
[ENSMUST00000118108]
[ENSMUST00000137145]
[ENSMUST00000145903]
|
AlphaFold |
P20029 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028222
AA Change: T424A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000028222 Gene: ENSMUSG00000026864 AA Change: T424A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
Pfam:HSP70
|
31 |
637 |
8.2e-276 |
PFAM |
Pfam:MreB_Mbl
|
136 |
406 |
1.2e-18 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000047963
|
SMART Domains |
Protein: ENSMUSP00000037746 Gene: ENSMUSG00000070953
Domain | Start | End | E-Value | Type |
Pfam:Kelch_2
|
5 |
51 |
6.7e-13 |
PFAM |
Pfam:Kelch_4
|
5 |
58 |
2e-7 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000100171
AA Change: T424A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000097747 Gene: ENSMUSG00000026864 AA Change: T424A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
Pfam:HSP70
|
31 |
637 |
3.3e-278 |
PFAM |
Pfam:MreB_Mbl
|
136 |
406 |
1.2e-18 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113086
|
SMART Domains |
Protein: ENSMUSP00000108709 Gene: ENSMUSG00000070953
Domain | Start | End | E-Value | Type |
Pfam:Kelch_2
|
30 |
82 |
5e-15 |
PFAM |
Pfam:Kelch_4
|
30 |
86 |
6.7e-10 |
PFAM |
Pfam:Kelch_3
|
47 |
96 |
1e-12 |
PFAM |
Pfam:Kelch_4
|
87 |
140 |
4.6e-7 |
PFAM |
Pfam:Kelch_3
|
98 |
150 |
1.6e-9 |
PFAM |
Pfam:Kelch_5
|
138 |
174 |
6.2e-8 |
PFAM |
Pfam:Kelch_1
|
141 |
186 |
8.3e-7 |
PFAM |
Pfam:Kelch_4
|
141 |
190 |
2.3e-10 |
PFAM |
Pfam:Kelch_6
|
141 |
190 |
4.1e-10 |
PFAM |
Pfam:Kelch_3
|
151 |
200 |
3.5e-8 |
PFAM |
Pfam:Kelch_5
|
188 |
225 |
1.8e-7 |
PFAM |
Pfam:Kelch_1
|
191 |
233 |
2.8e-9 |
PFAM |
Pfam:Kelch_4
|
193 |
240 |
9.4e-9 |
PFAM |
Pfam:Kelch_3
|
201 |
250 |
6.7e-7 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118108
|
SMART Domains |
Protein: ENSMUSP00000113099 Gene: ENSMUSG00000070953
Domain | Start | End | E-Value | Type |
Pfam:Kelch_2
|
30 |
82 |
2.8e-16 |
PFAM |
Pfam:Kelch_4
|
30 |
82 |
3.7e-6 |
PFAM |
Pfam:Kelch_3
|
99 |
147 |
8.2e-9 |
PFAM |
Pfam:Kelch_4
|
138 |
191 |
2.7e-6 |
PFAM |
Pfam:Kelch_3
|
149 |
201 |
7.9e-9 |
PFAM |
Pfam:Kelch_5
|
189 |
225 |
2.8e-7 |
PFAM |
Pfam:Kelch_1
|
192 |
237 |
5.2e-6 |
PFAM |
Pfam:Kelch_4
|
192 |
241 |
1.3e-9 |
PFAM |
Pfam:Kelch_6
|
192 |
241 |
2.4e-9 |
PFAM |
Pfam:Kelch_3
|
202 |
251 |
1.7e-7 |
PFAM |
Pfam:Kelch_5
|
239 |
276 |
8.1e-7 |
PFAM |
Pfam:Kelch_1
|
242 |
284 |
1.8e-8 |
PFAM |
Pfam:Kelch_4
|
244 |
291 |
5.5e-8 |
PFAM |
Pfam:Kelch_3
|
252 |
301 |
3.2e-6 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129333
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145466
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155595
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137145
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145903
|
SMART Domains |
Protein: ENSMUSP00000122360 Gene: ENSMUSG00000070953
Domain | Start | End | E-Value | Type |
Pfam:Kelch_2
|
38 |
90 |
1.5e-17 |
PFAM |
Pfam:Kelch_4
|
38 |
90 |
2.2e-7 |
PFAM |
Pfam:Kelch_1
|
55 |
87 |
4.5e-7 |
PFAM |
Pfam:Kelch_3
|
107 |
155 |
7e-10 |
PFAM |
Pfam:Kelch_4
|
146 |
199 |
4e-7 |
PFAM |
Pfam:Kelch_3
|
157 |
209 |
1.5e-10 |
PFAM |
Pfam:Kelch_5
|
197 |
231 |
1e-8 |
PFAM |
Pfam:Kelch_4
|
200 |
249 |
3.4e-9 |
PFAM |
Pfam:Kelch_5
|
247 |
284 |
5.1e-8 |
PFAM |
Pfam:Kelch_1
|
250 |
292 |
2.9e-9 |
PFAM |
Pfam:Kelch_6
|
250 |
301 |
1.2e-8 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the heat shock protein 70 (HSP70) family. It is localized in the lumen of the endoplasmic reticulum (ER), and is involved in the folding and assembly of proteins in the ER. As this protein interacts with many ER proteins, it may play a key role in monitoring protein transport through the cell.[provided by RefSeq, Sep 2010] PHENOTYPE: Nullizygous embryos die around implantation. Neonates homozygous for a knock-in allele die of respiratory failure. Mice homozygous for an ENU-induced mutation exhibit abnormal thalamocortical axon patterning, small kidneys, cleft palate, respiratory distress, and postnatal lethality. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb2 |
A |
T |
2: 103,535,417 (GRCm39) |
Y528F |
possibly damaging |
Het |
Acad10 |
G |
A |
5: 121,787,604 (GRCm39) |
T115I |
possibly damaging |
Het |
Adam19 |
T |
C |
11: 46,018,092 (GRCm39) |
F385L |
probably damaging |
Het |
Adgb |
T |
C |
10: 10,318,357 (GRCm39) |
N162D |
probably benign |
Het |
Arhgap20 |
C |
A |
9: 51,757,570 (GRCm39) |
P521T |
probably damaging |
Het |
Arsa |
A |
T |
15: 89,359,380 (GRCm39) |
L134Q |
probably damaging |
Het |
Atp5f1b |
A |
G |
10: 127,925,921 (GRCm39) |
Y508C |
probably damaging |
Het |
AW554918 |
G |
A |
18: 25,553,067 (GRCm39) |
M287I |
probably benign |
Het |
Bmp4 |
T |
C |
14: 46,621,360 (GRCm39) |
K395E |
probably damaging |
Het |
Cacna2d4 |
A |
G |
6: 119,277,294 (GRCm39) |
Y669C |
probably damaging |
Het |
Casq2 |
T |
C |
3: 102,051,550 (GRCm39) |
|
probably null |
Het |
Cdk5rap1 |
A |
T |
2: 154,202,519 (GRCm39) |
I237N |
possibly damaging |
Het |
Cerk |
G |
C |
15: 86,033,565 (GRCm39) |
S286C |
possibly damaging |
Het |
Cir1 |
A |
C |
2: 73,117,987 (GRCm39) |
L186R |
probably damaging |
Het |
Csf3r |
A |
T |
4: 125,936,781 (GRCm39) |
|
probably null |
Het |
Cyp3a41a |
A |
T |
5: 145,642,621 (GRCm39) |
I246K |
possibly damaging |
Het |
Cyp8b1 |
A |
G |
9: 121,744,348 (GRCm39) |
F328S |
possibly damaging |
Het |
Dzank1 |
A |
T |
2: 144,355,365 (GRCm39) |
V110D |
probably benign |
Het |
Gm6729 |
T |
A |
10: 86,376,799 (GRCm39) |
|
noncoding transcript |
Het |
Gnpat |
T |
C |
8: 125,604,246 (GRCm39) |
F246L |
probably benign |
Het |
Gnpat |
T |
A |
8: 125,605,255 (GRCm39) |
L248H |
probably damaging |
Het |
Gstm7 |
T |
C |
3: 107,834,266 (GRCm39) |
T163A |
probably benign |
Het |
Itgb1 |
T |
G |
8: 129,439,786 (GRCm39) |
D158E |
probably damaging |
Het |
Kif21a |
A |
G |
15: 90,819,853 (GRCm39) |
V1637A |
probably benign |
Het |
Kl |
G |
T |
5: 150,905,985 (GRCm39) |
V452F |
probably damaging |
Het |
Krt23 |
T |
C |
11: 99,369,045 (GRCm39) |
N416S |
probably benign |
Het |
Lama4 |
A |
T |
10: 38,968,241 (GRCm39) |
H1461L |
possibly damaging |
Het |
Lamc3 |
A |
G |
2: 31,818,814 (GRCm39) |
T1180A |
probably benign |
Het |
Mboat2 |
T |
C |
12: 24,996,527 (GRCm39) |
Y145H |
probably damaging |
Het |
Mlxipl |
T |
A |
5: 135,142,564 (GRCm39) |
I126N |
probably damaging |
Het |
Myo16 |
T |
A |
8: 10,620,181 (GRCm39) |
N1577K |
possibly damaging |
Het |
Nlrp4f |
A |
G |
13: 65,332,897 (GRCm39) |
V87A |
possibly damaging |
Het |
Or5al5 |
A |
G |
2: 85,961,915 (GRCm39) |
F31L |
probably benign |
Het |
Or6p1 |
A |
T |
1: 174,258,701 (GRCm39) |
K236* |
probably null |
Het |
Pask |
A |
T |
1: 93,258,549 (GRCm39) |
D266E |
probably benign |
Het |
Pcdhb17 |
A |
G |
18: 37,619,899 (GRCm39) |
Y563C |
probably damaging |
Het |
Pdlim3 |
T |
A |
8: 46,349,837 (GRCm39) |
I49N |
probably damaging |
Het |
Pla2g4c |
T |
A |
7: 13,077,334 (GRCm39) |
V292E |
possibly damaging |
Het |
Pramel23 |
T |
C |
4: 143,423,477 (GRCm39) |
I437M |
possibly damaging |
Het |
Prrt4 |
G |
T |
6: 29,169,813 (GRCm39) |
Q880K |
possibly damaging |
Het |
Pygb |
A |
G |
2: 150,628,858 (GRCm39) |
D24G |
probably benign |
Het |
R3hcc1l |
T |
A |
19: 42,552,093 (GRCm39) |
D363E |
probably damaging |
Het |
Rif1 |
A |
C |
2: 52,001,574 (GRCm39) |
Q1676P |
probably benign |
Het |
Ryr1 |
C |
A |
7: 28,795,683 (GRCm39) |
R1069L |
probably damaging |
Het |
Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
Slc2a13 |
A |
G |
15: 91,296,363 (GRCm39) |
V317A |
probably damaging |
Het |
Slc35b4 |
A |
T |
6: 34,138,619 (GRCm39) |
F197I |
probably damaging |
Het |
Tchhl1 |
G |
A |
3: 93,377,520 (GRCm39) |
V75I |
probably benign |
Het |
Ubr4 |
T |
C |
4: 139,182,771 (GRCm39) |
S3521P |
possibly damaging |
Het |
Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
Zfp335 |
GTCCTCCTCCTCCTCCTC |
GTCCTCCTCCTCCTC |
2: 164,749,388 (GRCm39) |
|
probably benign |
Het |
Zfp874a |
T |
G |
13: 67,590,539 (GRCm39) |
I382L |
possibly damaging |
Het |
|
Other mutations in Hspa5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01925:Hspa5
|
APN |
2 |
34,664,730 (GRCm39) |
missense |
probably benign |
|
IGL01997:Hspa5
|
APN |
2 |
34,662,327 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL02239:Hspa5
|
APN |
2 |
34,662,788 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03326:Hspa5
|
APN |
2 |
34,666,129 (GRCm39) |
unclassified |
probably benign |
|
R0281:Hspa5
|
UTSW |
2 |
34,664,332 (GRCm39) |
missense |
probably damaging |
1.00 |
R1687:Hspa5
|
UTSW |
2 |
34,665,836 (GRCm39) |
missense |
probably benign |
0.00 |
R1741:Hspa5
|
UTSW |
2 |
34,662,704 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1833:Hspa5
|
UTSW |
2 |
34,666,065 (GRCm39) |
nonsense |
probably null |
|
R1842:Hspa5
|
UTSW |
2 |
34,665,815 (GRCm39) |
missense |
probably damaging |
1.00 |
R1851:Hspa5
|
UTSW |
2 |
34,664,690 (GRCm39) |
missense |
possibly damaging |
0.64 |
R1864:Hspa5
|
UTSW |
2 |
34,664,553 (GRCm39) |
missense |
probably damaging |
0.99 |
R1865:Hspa5
|
UTSW |
2 |
34,664,553 (GRCm39) |
missense |
probably damaging |
0.99 |
R2173:Hspa5
|
UTSW |
2 |
34,664,674 (GRCm39) |
missense |
probably damaging |
1.00 |
R5027:Hspa5
|
UTSW |
2 |
34,665,827 (GRCm39) |
missense |
probably damaging |
1.00 |
R5889:Hspa5
|
UTSW |
2 |
34,664,629 (GRCm39) |
missense |
probably damaging |
1.00 |
R6046:Hspa5
|
UTSW |
2 |
34,665,761 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6515:Hspa5
|
UTSW |
2 |
34,662,416 (GRCm39) |
missense |
probably benign |
0.05 |
R7045:Hspa5
|
UTSW |
2 |
34,663,204 (GRCm39) |
missense |
probably damaging |
0.99 |
R7046:Hspa5
|
UTSW |
2 |
34,663,204 (GRCm39) |
missense |
probably damaging |
0.99 |
R7047:Hspa5
|
UTSW |
2 |
34,663,204 (GRCm39) |
missense |
probably damaging |
0.99 |
R7049:Hspa5
|
UTSW |
2 |
34,663,204 (GRCm39) |
missense |
probably damaging |
0.99 |
R7185:Hspa5
|
UTSW |
2 |
34,665,138 (GRCm39) |
missense |
probably damaging |
1.00 |
R7238:Hspa5
|
UTSW |
2 |
34,662,383 (GRCm39) |
missense |
unknown |
|
R7879:Hspa5
|
UTSW |
2 |
34,665,941 (GRCm39) |
missense |
probably benign |
0.05 |
R9317:Hspa5
|
UTSW |
2 |
34,666,070 (GRCm39) |
missense |
probably benign |
0.45 |
R9507:Hspa5
|
UTSW |
2 |
34,664,610 (GRCm39) |
missense |
probably benign |
|
R9701:Hspa5
|
UTSW |
2 |
34,664,649 (GRCm39) |
nonsense |
probably null |
|
X0067:Hspa5
|
UTSW |
2 |
34,665,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGGAGCCATCCCGTGGCATAAAC -3'
(R):5'- CAAAGCATTGTAAGCCCCTCTGACC -3'
Sequencing Primer
(F):5'- CCTCTCTGGTGATCAGGATACAG -3'
(R):5'- taatattGTGAAACCCAGATCACATC -3'
|
Posted On |
2014-01-05 |