Incidental Mutation 'R7047:Hspa5'
| ID |
547356 |
| 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 |
045145-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7047 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
34662102-34666541 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 34663204 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 127
(P127L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097747
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028222]
[ENSMUST00000100171]
[ENSMUST00000137145]
[ENSMUST00000145903]
|
| AlphaFold |
P20029 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028222
AA Change: P127L
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000028222
Gene: ENSMUSG00000026864
AA Change: P127L
| 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 damaging
Transcript: ENSMUST00000100171
AA Change: P127L
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000097747
Gene: ENSMUSG00000026864
AA Change: P127L
| 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: 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 |
|
| Meta Mutation Damage Score |
0.7682 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (53/54) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
T |
14: 32,382,131 (GRCm39) |
I1278N |
possibly damaging |
Het |
| Adcy5 |
T |
A |
16: 35,087,585 (GRCm39) |
L482Q |
probably damaging |
Het |
| Adora2a |
A |
G |
10: 75,162,145 (GRCm39) |
I95V |
probably damaging |
Het |
| Anapc1 |
A |
C |
2: 128,457,350 (GRCm39) |
C1887G |
probably damaging |
Het |
| Arfgef2 |
T |
A |
2: 166,693,865 (GRCm39) |
|
probably null |
Het |
| Capn11 |
G |
T |
17: 45,949,622 (GRCm39) |
S448* |
probably null |
Het |
| Capn7 |
C |
T |
14: 31,058,642 (GRCm39) |
|
probably benign |
Het |
| Cep55 |
T |
A |
19: 38,048,539 (GRCm39) |
V65D |
possibly damaging |
Het |
| Col5a1 |
A |
G |
2: 27,818,096 (GRCm39) |
K107R |
unknown |
Het |
| Dbh |
T |
A |
2: 27,055,622 (GRCm39) |
I32N |
possibly damaging |
Het |
| Disp1 |
C |
A |
1: 182,869,030 (GRCm39) |
R1130L |
probably damaging |
Het |
| Dzip3 |
A |
T |
16: 48,802,489 (GRCm39) |
N13K |
probably benign |
Het |
| Emilin1 |
A |
G |
5: 31,074,422 (GRCm39) |
N221S |
probably benign |
Het |
| Ext2 |
A |
G |
2: 93,570,002 (GRCm39) |
F470L |
probably damaging |
Het |
| Filip1 |
T |
A |
9: 79,760,916 (GRCm39) |
Q206L |
probably damaging |
Het |
| Garin1b |
T |
A |
6: 29,323,809 (GRCm39) |
L178H |
probably damaging |
Het |
| Gpr63 |
G |
T |
4: 25,007,320 (GRCm39) |
A15S |
probably benign |
Het |
| Grhl3 |
T |
C |
4: 135,276,551 (GRCm39) |
|
probably null |
Het |
| Ift172 |
G |
T |
5: 31,433,238 (GRCm39) |
Y193* |
probably null |
Het |
| Ints1 |
A |
C |
5: 139,744,226 (GRCm39) |
L1512* |
probably null |
Het |
| Kat2b |
A |
G |
17: 53,970,597 (GRCm39) |
Q661R |
probably benign |
Het |
| Kat6a |
A |
G |
8: 23,428,554 (GRCm39) |
N1303S |
possibly damaging |
Het |
| L3mbtl4 |
G |
T |
17: 68,768,561 (GRCm39) |
R223L |
probably benign |
Het |
| Maml2 |
T |
C |
9: 13,532,177 (GRCm39) |
|
probably benign |
Het |
| Mixl1 |
A |
G |
1: 180,524,183 (GRCm39) |
|
probably null |
Het |
| Mocs1 |
T |
C |
17: 49,759,887 (GRCm39) |
|
probably null |
Het |
| Ms4a15 |
T |
G |
19: 10,962,236 (GRCm39) |
N36T |
probably damaging |
Het |
| Msr1 |
G |
A |
8: 40,095,657 (GRCm39) |
T2I |
possibly damaging |
Het |
| Nlgn1 |
A |
C |
3: 25,490,199 (GRCm39) |
Y509* |
probably null |
Het |
| Nsmce1 |
C |
A |
7: 125,090,606 (GRCm39) |
G4C |
probably benign |
Het |
| Or4c113 |
A |
T |
2: 88,885,490 (GRCm39) |
F93L |
probably damaging |
Het |
| Or51v15-ps1 |
A |
G |
7: 103,278,918 (GRCm39) |
V83A |
probably damaging |
Het |
| Pan3 |
G |
A |
5: 147,483,175 (GRCm39) |
G452D |
probably damaging |
Het |
| Pcyox1 |
G |
T |
6: 86,365,891 (GRCm39) |
P441H |
probably damaging |
Het |
| Phf12 |
T |
C |
11: 77,904,099 (GRCm39) |
V273A |
probably damaging |
Het |
| Plcd4 |
A |
G |
1: 74,591,148 (GRCm39) |
E181G |
possibly damaging |
Het |
| Ptgfr |
A |
T |
3: 151,541,178 (GRCm39) |
I110N |
possibly damaging |
Het |
| Rab40c |
A |
C |
17: 26,138,458 (GRCm39) |
V8G |
probably damaging |
Het |
| Rasal3 |
T |
A |
17: 32,615,458 (GRCm39) |
Y460F |
probably damaging |
Het |
| Rhbdf2 |
A |
G |
11: 116,494,477 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
T |
A |
13: 11,839,286 (GRCm39) |
N496Y |
possibly damaging |
Het |
| Sacs |
A |
T |
14: 61,450,451 (GRCm39) |
I4166F |
probably damaging |
Het |
| Sh2d3c |
T |
C |
2: 32,611,172 (GRCm39) |
M1T |
probably null |
Het |
| Smarca2 |
C |
T |
19: 26,646,555 (GRCm39) |
S651L |
possibly damaging |
Het |
| Sned1 |
A |
T |
1: 93,213,540 (GRCm39) |
R1204S |
possibly damaging |
Het |
| Spata31d1b |
T |
C |
13: 59,860,249 (GRCm39) |
Y41H |
probably damaging |
Het |
| Stab2 |
C |
T |
10: 86,694,016 (GRCm39) |
C2075Y |
probably damaging |
Het |
| Tcte1 |
A |
T |
17: 45,844,294 (GRCm39) |
Q90L |
possibly damaging |
Het |
| Tll2 |
C |
T |
19: 41,074,679 (GRCm39) |
G945S |
probably damaging |
Het |
| Tmbim7 |
A |
T |
5: 3,720,112 (GRCm39) |
T116S |
probably benign |
Het |
| Tnfrsf19 |
A |
T |
14: 61,242,667 (GRCm39) |
C72* |
probably null |
Het |
| Usp17le |
T |
A |
7: 104,417,640 (GRCm39) |
T501S |
probably benign |
Het |
| Wnt5b |
T |
A |
6: 119,425,217 (GRCm39) |
|
probably benign |
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 |
|
R1052:Hspa5
|
UTSW |
2 |
34,665,110 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- AGGAGTATTTAGGGGTTGCCAC -3'
(R):5'- TTCCCTACACAAGTCATCGAG -3'
Sequencing Primer
(F):5'- TCTACAATACAGCTGTGCTCAG -3'
(R):5'- CTACACAAGTCATCGAGGGGGAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation