Incidental Mutation 'R4323:Hspa1l'
| ID |
323931 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hspa1l
|
| Ensembl Gene |
ENSMUSG00000007033 |
| Gene Name |
heat shock protein 1-like |
| Synonyms |
70kDa, Hsc70t, Msh5 |
| MMRRC Submission |
041094-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.713)
|
| Stock # |
R4323 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
35191679-35198204 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 35196832 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 290
(Y290*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007248
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007248]
[ENSMUST00000007266]
[ENSMUST00000114011]
[ENSMUST00000173004]
|
| AlphaFold |
P16627 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000007248
AA Change: Y290*
|
| SMART Domains |
Protein: ENSMUSP00000007248
Gene: ENSMUSG00000007033
AA Change: Y290*
| 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: 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 |
noncoding transcript
Transcript: ENSMUST00000172777
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172890
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174326
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174434
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174241
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174860
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173004
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
95% (59/62) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933430I17Rik |
A |
G |
4: 62,465,548 (GRCm39) |
Y414C |
probably damaging |
Het |
| Akr1b1 |
T |
C |
6: 34,287,862 (GRCm39) |
T166A |
probably benign |
Het |
| Ankhd1 |
C |
T |
18: 36,711,686 (GRCm39) |
S94L |
probably damaging |
Het |
| B4galt3 |
G |
T |
1: 171,103,515 (GRCm39) |
M68I |
possibly damaging |
Het |
| Bpnt1 |
A |
C |
1: 185,088,786 (GRCm39) |
H312P |
probably benign |
Het |
| Ccdc178 |
T |
A |
18: 22,166,600 (GRCm39) |
K530* |
probably null |
Het |
| Ccdc191 |
A |
G |
16: 43,767,872 (GRCm39) |
E624G |
probably damaging |
Het |
| Clasp2 |
T |
C |
9: 113,719,027 (GRCm39) |
V724A |
possibly damaging |
Het |
| Copa |
G |
T |
1: 171,946,831 (GRCm39) |
C1022F |
probably damaging |
Het |
| Cwf19l2 |
T |
G |
9: 3,430,452 (GRCm39) |
F261L |
probably damaging |
Het |
| Esr1 |
G |
A |
10: 4,951,307 (GRCm39) |
V562M |
possibly damaging |
Het |
| Fap |
T |
C |
2: 62,333,716 (GRCm39) |
H643R |
probably damaging |
Het |
| Fbxo38 |
T |
A |
18: 62,648,232 (GRCm39) |
M769L |
probably benign |
Het |
| Fgfr1 |
A |
G |
8: 26,063,915 (GRCm39) |
N814S |
probably benign |
Het |
| Hipk3 |
C |
A |
2: 104,276,916 (GRCm39) |
V388L |
probably damaging |
Het |
| Itsn1 |
G |
A |
16: 91,615,440 (GRCm39) |
|
probably benign |
Het |
| Jam2 |
T |
C |
16: 84,619,744 (GRCm39) |
|
probably benign |
Het |
| Kprp |
G |
A |
3: 92,732,163 (GRCm39) |
R296W |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,746,603 (GRCm39) |
I14T |
probably benign |
Het |
| Mitf |
A |
G |
6: 97,968,910 (GRCm39) |
Y10C |
probably benign |
Het |
| Mpo |
T |
C |
11: 87,686,865 (GRCm39) |
S165P |
probably damaging |
Het |
| Neb |
T |
G |
2: 52,154,122 (GRCm39) |
M2330L |
possibly damaging |
Het |
| Nup214 |
T |
C |
2: 31,884,696 (GRCm39) |
S486P |
probably benign |
Het |
| Or2y1f |
G |
A |
11: 49,184,503 (GRCm39) |
M118I |
probably damaging |
Het |
| Parp6 |
G |
A |
9: 59,537,969 (GRCm39) |
V205I |
possibly damaging |
Het |
| Pate2 |
A |
T |
9: 35,581,767 (GRCm39) |
|
probably benign |
Het |
| Pdss1 |
T |
C |
2: 22,802,608 (GRCm39) |
|
probably benign |
Het |
| Pira13 |
A |
G |
7: 3,825,754 (GRCm39) |
S372P |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Septin1 |
G |
A |
7: 126,816,200 (GRCm39) |
P77S |
probably damaging |
Het |
| Slitrk3 |
A |
G |
3: 72,958,118 (GRCm39) |
L218P |
probably damaging |
Het |
| Sltm |
T |
C |
9: 70,487,529 (GRCm39) |
I521T |
probably benign |
Het |
| Smchd1 |
A |
G |
17: 71,735,270 (GRCm39) |
I618T |
probably benign |
Het |
| Sox6 |
A |
G |
7: 115,179,798 (GRCm39) |
|
probably null |
Het |
| Sp8 |
A |
G |
12: 118,812,171 (GRCm39) |
I9V |
probably benign |
Het |
| Usp9y |
T |
A |
Y: 1,434,407 (GRCm39) |
M352L |
possibly damaging |
Het |
| Vmn1r46 |
T |
C |
6: 89,953,349 (GRCm39) |
M66T |
probably benign |
Het |
| Vmn2r111 |
A |
T |
17: 22,792,159 (GRCm39) |
N32K |
probably benign |
Het |
| Vmn2r63 |
A |
G |
7: 42,576,406 (GRCm39) |
F469S |
probably benign |
Het |
| Vps13d |
T |
A |
4: 144,879,348 (GRCm39) |
T1486S |
probably benign |
Het |
| Wdr55 |
A |
G |
18: 36,896,153 (GRCm39) |
N281S |
probably benign |
Het |
| Zswim6 |
G |
A |
13: 108,025,938 (GRCm39) |
|
noncoding transcript |
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 |
|
IGL01959:Hspa1l
|
APN |
17 |
35,196,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGTGTCCATCCTGACGATC -3'
(R):5'- CGTCCATTAAAGTAGTCCTGAAGC -3'
Sequencing Primer
(F):5'- ATCGACGACGGCATCTTC -3'
(R):5'- AAGTAGTCCTGAAGCAGTTTTTG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation