Incidental Mutation 'IGL01959:Hspa1l'
| ID |
182329 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hspa1l
|
| Ensembl Gene |
ENSMUSG00000007033 |
| Gene Name |
heat shock protein 1-like |
| Synonyms |
70kDa, Hsc70t, Msh5 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.713)
|
| Stock # |
IGL01959
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
35191679-35198204 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35196111 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 50
(E50G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007248
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007248]
[ENSMUST00000007266]
[ENSMUST00000087328]
[ENSMUST00000114011]
[ENSMUST00000173680]
|
| AlphaFold |
P16627 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000007248
AA Change: E50G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000007248
Gene: ENSMUSG00000007033
AA Change: E50G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSP70
|
8 |
614 |
6.5e-269 |
PFAM |
|
low complexity region
|
616 |
629 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007266
|
| SMART Domains |
Protein: ENSMUSP00000007266
Gene: ENSMUSG00000007050
| Domain | Start | End | E-Value | Type |
|---|
|
Sm
|
41 |
108 |
8.91e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087328
|
| SMART Domains |
Protein: ENSMUSP00000084586
Gene: ENSMUSG00000091971
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSP70
|
6 |
612 |
1.3e-268 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114011
|
| SMART Domains |
Protein: ENSMUSP00000109644
Gene: ENSMUSG00000007050
| Domain | Start | End | E-Value | Type |
|---|
|
Sm
|
5 |
72 |
8.91e-18 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151136
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172523
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173680
|
| SMART Domains |
Protein: ENSMUSP00000133726
Gene: ENSMUSG00000092609
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
87 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
91 |
102 |
5.9e-5 |
PROSPERO |
|
internal_repeat_1
|
113 |
124 |
5.9e-5 |
PROSPERO |
|
low complexity region
|
134 |
146 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174241
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174326
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 70kDa heat shock protein. In conjunction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which also encode isoforms of the 70kDa heat shock protein. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9230009I02Rik |
T |
C |
11: 50,982,645 (GRCm39) |
|
noncoding transcript |
Het |
| Aip |
A |
G |
19: 4,171,397 (GRCm39) |
I13T |
probably damaging |
Het |
| Cacna2d1 |
C |
T |
5: 16,417,895 (GRCm39) |
P140S |
probably benign |
Het |
| Cald1 |
A |
G |
6: 34,730,403 (GRCm39) |
D40G |
probably damaging |
Het |
| Cep250 |
T |
A |
2: 155,825,279 (GRCm39) |
V1052E |
possibly damaging |
Het |
| Chd1 |
A |
G |
17: 15,962,435 (GRCm39) |
N731D |
probably damaging |
Het |
| Chml |
C |
T |
1: 175,515,166 (GRCm39) |
V252I |
probably benign |
Het |
| Cog8 |
T |
C |
8: 107,783,010 (GRCm39) |
Y93C |
probably damaging |
Het |
| Creld1 |
G |
A |
6: 113,469,794 (GRCm39) |
A399T |
probably damaging |
Het |
| Cyp2a4 |
T |
A |
7: 26,007,133 (GRCm39) |
V80E |
probably damaging |
Het |
| Cyp2c37 |
T |
A |
19: 39,984,277 (GRCm39) |
L255* |
probably null |
Het |
| Cyp2d12 |
C |
A |
15: 82,439,545 (GRCm39) |
|
probably benign |
Het |
| Dimt1 |
A |
G |
13: 107,089,963 (GRCm39) |
I229V |
probably benign |
Het |
| Dsc1 |
G |
A |
18: 20,230,282 (GRCm39) |
T341I |
probably damaging |
Het |
| Ercc3 |
T |
A |
18: 32,390,411 (GRCm39) |
F567I |
probably damaging |
Het |
| Espl1 |
C |
A |
15: 102,214,097 (GRCm39) |
|
probably benign |
Het |
| Fcrl2 |
T |
C |
3: 87,166,939 (GRCm39) |
D18G |
probably damaging |
Het |
| Fnip1 |
T |
A |
11: 54,381,738 (GRCm39) |
S296R |
possibly damaging |
Het |
| Fzd5 |
C |
A |
1: 64,775,105 (GRCm39) |
A219S |
possibly damaging |
Het |
| Gbp7 |
A |
G |
3: 142,247,108 (GRCm39) |
|
probably benign |
Het |
| Gm3298 |
T |
C |
14: 5,018,731 (GRCm38) |
L162S |
probably damaging |
Het |
| Ipo9 |
T |
C |
1: 135,348,093 (GRCm39) |
|
probably null |
Het |
| Kazn |
A |
G |
4: 141,878,195 (GRCm39) |
L185P |
probably damaging |
Het |
| Kcnh8 |
T |
C |
17: 53,141,635 (GRCm39) |
S293P |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,202,539 (GRCm39) |
T1191A |
probably damaging |
Het |
| Mnat1 |
A |
G |
12: 73,228,705 (GRCm39) |
|
probably benign |
Het |
| Msx2 |
C |
T |
13: 53,622,638 (GRCm39) |
|
probably benign |
Het |
| Ndufs2 |
T |
G |
1: 171,064,798 (GRCm39) |
I317L |
probably benign |
Het |
| Nms |
T |
C |
1: 38,981,006 (GRCm39) |
|
probably benign |
Het |
| Oosp3 |
T |
A |
19: 11,678,286 (GRCm39) |
F87L |
probably benign |
Het |
| Pask |
A |
G |
1: 93,262,329 (GRCm39) |
V177A |
probably benign |
Het |
| Poldip2 |
G |
T |
11: 78,403,133 (GRCm39) |
|
probably benign |
Het |
| Prr14l |
A |
T |
5: 32,987,549 (GRCm39) |
S649T |
possibly damaging |
Het |
| Slc6a18 |
T |
A |
13: 73,825,984 (GRCm39) |
N22I |
probably damaging |
Het |
| Smco2 |
T |
A |
6: 146,763,208 (GRCm39) |
S228T |
probably benign |
Het |
| Speer4a1 |
G |
A |
5: 26,240,902 (GRCm39) |
Q197* |
probably null |
Het |
| Speg |
A |
G |
1: 75,367,734 (GRCm39) |
K641R |
probably damaging |
Het |
| Strip2 |
G |
A |
6: 29,928,553 (GRCm39) |
V286M |
probably damaging |
Het |
| Tnfrsf22 |
C |
T |
7: 143,197,012 (GRCm39) |
|
probably null |
Het |
| Tnpo3 |
A |
G |
6: 29,589,019 (GRCm39) |
|
probably benign |
Het |
| Top2b |
T |
A |
14: 16,422,695 (GRCm38) |
N1377K |
probably benign |
Het |
| Trmt1 |
T |
A |
8: 85,418,005 (GRCm39) |
|
probably null |
Het |
| Trpm1 |
A |
G |
7: 63,858,723 (GRCm39) |
M266V |
possibly damaging |
Het |
| Vmn1r199 |
A |
G |
13: 22,567,290 (GRCm39) |
T195A |
probably benign |
Het |
| Vmn2r10 |
A |
G |
5: 109,145,571 (GRCm39) |
V512A |
probably benign |
Het |
| Zfp777 |
A |
G |
6: 48,021,275 (GRCm39) |
F116L |
probably benign |
Het |
| Zp3r |
T |
A |
1: 130,519,188 (GRCm39) |
K253* |
probably null |
Het |
|
| Other mutations in Hspa1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00569:Hspa1l
|
APN |
17 |
35,196,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01548:Hspa1l
|
APN |
17 |
35,197,367 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01860:Hspa1l
|
APN |
17 |
35,197,787 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02661:Hspa1l
|
APN |
17 |
35,196,251 (GRCm39) |
missense |
probably benign |
|
|
R0355:Hspa1l
|
UTSW |
17 |
35,196,386 (GRCm39) |
missense |
probably benign |
|
|
R0850:Hspa1l
|
UTSW |
17 |
35,196,599 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1675:Hspa1l
|
UTSW |
17 |
35,196,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2148:Hspa1l
|
UTSW |
17 |
35,196,366 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2169:Hspa1l
|
UTSW |
17 |
35,196,299 (GRCm39) |
missense |
probably benign |
|
|
R2418:Hspa1l
|
UTSW |
17 |
35,196,164 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4323:Hspa1l
|
UTSW |
17 |
35,196,832 (GRCm39) |
nonsense |
probably null |
|
|
R4924:Hspa1l
|
UTSW |
17 |
35,196,832 (GRCm39) |
nonsense |
probably null |
|
|
R4926:Hspa1l
|
UTSW |
17 |
35,197,199 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5186:Hspa1l
|
UTSW |
17 |
35,197,445 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5653:Hspa1l
|
UTSW |
17 |
35,196,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5790:Hspa1l
|
UTSW |
17 |
35,196,216 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6086:Hspa1l
|
UTSW |
17 |
35,197,131 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6237:Hspa1l
|
UTSW |
17 |
35,196,428 (GRCm39) |
nonsense |
probably null |
|
|
R7229:Hspa1l
|
UTSW |
17 |
35,196,231 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8871:Hspa1l
|
UTSW |
17 |
35,197,799 (GRCm39) |
missense |
probably benign |
0.42 |
|
R8952:Hspa1l
|
UTSW |
17 |
35,196,946 (GRCm39) |
missense |
probably benign |
|
|
R8968:Hspa1l
|
UTSW |
17 |
35,196,230 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8984:Hspa1l
|
UTSW |
17 |
35,197,092 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9056:Hspa1l
|
UTSW |
17 |
35,196,849 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9479:Hspa1l
|
UTSW |
17 |
35,196,735 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9520:Hspa1l
|
UTSW |
17 |
35,196,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Hspa1l
|
UTSW |
17 |
35,197,468 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
Z1177:Hspa1l
|
UTSW |
17 |
35,196,992 (GRCm39) |
missense |
probably benign |
0.27 |
|
| Posted On |
2014-05-07 |
Incidental Mutation