Incidental Mutation 'R4365:Hspa4l'
| ID |
325700 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hspa4l
|
| Ensembl Gene |
ENSMUSG00000025757 |
| Gene Name |
heat shock protein 4 like |
| Synonyms |
Osp94, APG-1, 94kDa |
| MMRRC Submission |
041113-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.230)
|
| Stock # |
R4365 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
40699814-40750538 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 40721241 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145468
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108086]
[ENSMUST00000203353]
[ENSMUST00000204702]
|
| AlphaFold |
P48722 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000108086
|
| SMART Domains |
Protein: ENSMUSP00000103721
Gene: ENSMUSG00000025757
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSP70
|
11 |
673 |
2.1e-171 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000203353
|
| SMART Domains |
Protein: ENSMUSP00000144787
Gene: ENSMUSG00000025757
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSP70
|
3 |
570 |
6.2e-184 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000204702
|
| SMART Domains |
Protein: ENSMUSP00000145468
Gene: ENSMUSG00000025757
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSP70
|
3 |
694 |
1.3e-192 |
PFAM |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
| 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 heat shock inducible and may act as a chaperone. The encoded protein can protect the heat-shocked cell against the harmful effects of aggregated proteins. This gene is highly expressed in leukemia cells and may be a good target for therapeutic intervention. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene display increased incidence of male infertility, due to reduced number of mature sperm and reduced sperm motility, and hydronephrosis development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apob |
A |
T |
12: 8,066,083 (GRCm39) |
I4318F |
possibly damaging |
Het |
| Btrc |
G |
A |
19: 45,501,919 (GRCm39) |
D213N |
probably damaging |
Het |
| C4b |
T |
A |
17: 34,953,717 (GRCm39) |
I964F |
possibly damaging |
Het |
| Cacna1f |
G |
T |
X: 7,476,213 (GRCm39) |
A123S |
probably damaging |
Het |
| Ccdc153 |
G |
A |
9: 44,154,889 (GRCm39) |
A71T |
probably damaging |
Het |
| Celsr3 |
C |
A |
9: 108,707,046 (GRCm39) |
D1176E |
possibly damaging |
Het |
| Cfap46 |
A |
C |
7: 139,230,868 (GRCm39) |
V920G |
probably damaging |
Het |
| Cnot10 |
T |
A |
9: 114,460,949 (GRCm39) |
K74* |
probably null |
Het |
| Dnajb12 |
T |
C |
10: 59,715,588 (GRCm39) |
F30S |
probably damaging |
Het |
| Emilin3 |
T |
C |
2: 160,750,406 (GRCm39) |
R401G |
probably benign |
Het |
| F5 |
A |
G |
1: 164,012,519 (GRCm39) |
T478A |
probably damaging |
Het |
| Il1rl2 |
G |
T |
1: 40,390,951 (GRCm39) |
R298L |
probably benign |
Het |
| Lipo2 |
A |
T |
19: 33,699,108 (GRCm39) |
S307R |
probably damaging |
Het |
| Lrit2 |
T |
A |
14: 36,794,076 (GRCm39) |
L380Q |
probably damaging |
Het |
| Ncan |
A |
G |
8: 70,567,861 (GRCm39) |
S84P |
probably damaging |
Het |
| Ncoa2 |
T |
C |
1: 13,250,771 (GRCm39) |
I304V |
probably damaging |
Het |
| Nfe2l2 |
T |
C |
2: 75,509,772 (GRCm39) |
D16G |
probably damaging |
Het |
| Nt5dc1 |
T |
C |
10: 34,186,377 (GRCm39) |
D397G |
probably benign |
Het |
| Obsl1 |
A |
C |
1: 75,464,693 (GRCm39) |
L1576R |
possibly damaging |
Het |
| Or5p1 |
A |
T |
7: 107,916,313 (GRCm39) |
I71F |
probably benign |
Het |
| Or5v1 |
T |
C |
17: 37,810,270 (GRCm39) |
S243P |
probably damaging |
Het |
| Or6c212 |
A |
G |
10: 129,559,281 (GRCm39) |
I44T |
probably damaging |
Het |
| Pcdh17 |
A |
G |
14: 84,685,726 (GRCm39) |
E731G |
probably damaging |
Het |
| Rag1 |
T |
A |
2: 101,473,288 (GRCm39) |
K618M |
probably damaging |
Het |
| Ripor2 |
C |
T |
13: 24,905,694 (GRCm39) |
P947S |
probably benign |
Het |
| Rnf150 |
A |
G |
8: 83,590,744 (GRCm39) |
K36E |
probably benign |
Het |
| S100a9 |
T |
C |
3: 90,600,081 (GRCm39) |
H105R |
unknown |
Het |
| Spindoc |
T |
C |
19: 7,351,219 (GRCm39) |
D246G |
possibly damaging |
Het |
| St8sia4 |
A |
T |
1: 95,519,517 (GRCm39) |
Y324N |
possibly damaging |
Het |
| Tlr11 |
T |
A |
14: 50,598,926 (GRCm39) |
I304N |
probably damaging |
Het |
| Trpm3 |
A |
G |
19: 22,955,694 (GRCm39) |
T1090A |
probably benign |
Het |
| Ube4a |
T |
C |
9: 44,871,379 (GRCm39) |
N7D |
probably damaging |
Het |
|
| Other mutations in Hspa4l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02466:Hspa4l
|
APN |
3 |
40,707,657 (GRCm39) |
nonsense |
probably null |
|
|
IGL02605:Hspa4l
|
APN |
3 |
40,736,055 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02719:Hspa4l
|
APN |
3 |
40,727,090 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0281:Hspa4l
|
UTSW |
3 |
40,739,840 (GRCm39) |
splice site |
probably benign |
|
|
R0398:Hspa4l
|
UTSW |
3 |
40,711,429 (GRCm39) |
splice site |
probably benign |
|
|
R0487:Hspa4l
|
UTSW |
3 |
40,738,758 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0610:Hspa4l
|
UTSW |
3 |
40,733,832 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0760:Hspa4l
|
UTSW |
3 |
40,739,155 (GRCm39) |
nonsense |
probably null |
|
|
R1491:Hspa4l
|
UTSW |
3 |
40,741,226 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1720:Hspa4l
|
UTSW |
3 |
40,736,049 (GRCm39) |
nonsense |
probably null |
|
|
R1984:Hspa4l
|
UTSW |
3 |
40,714,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1986:Hspa4l
|
UTSW |
3 |
40,714,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2100:Hspa4l
|
UTSW |
3 |
40,727,090 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R3706:Hspa4l
|
UTSW |
3 |
40,736,125 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R3708:Hspa4l
|
UTSW |
3 |
40,736,125 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R3856:Hspa4l
|
UTSW |
3 |
40,739,821 (GRCm39) |
missense |
probably benign |
0.29 |
|
R3874:Hspa4l
|
UTSW |
3 |
40,727,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3890:Hspa4l
|
UTSW |
3 |
40,736,026 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4256:Hspa4l
|
UTSW |
3 |
40,700,435 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4364:Hspa4l
|
UTSW |
3 |
40,721,241 (GRCm39) |
splice site |
probably null |
|
|
R4366:Hspa4l
|
UTSW |
3 |
40,721,241 (GRCm39) |
splice site |
probably null |
|
|
R4493:Hspa4l
|
UTSW |
3 |
40,722,434 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4494:Hspa4l
|
UTSW |
3 |
40,707,636 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4954:Hspa4l
|
UTSW |
3 |
40,739,832 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4994:Hspa4l
|
UTSW |
3 |
40,700,081 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5114:Hspa4l
|
UTSW |
3 |
40,700,197 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5133:Hspa4l
|
UTSW |
3 |
40,741,179 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5202:Hspa4l
|
UTSW |
3 |
40,736,001 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5440:Hspa4l
|
UTSW |
3 |
40,736,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5635:Hspa4l
|
UTSW |
3 |
40,700,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5997:Hspa4l
|
UTSW |
3 |
40,722,411 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6012:Hspa4l
|
UTSW |
3 |
40,736,031 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6515:Hspa4l
|
UTSW |
3 |
40,736,014 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6589:Hspa4l
|
UTSW |
3 |
40,711,487 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7091:Hspa4l
|
UTSW |
3 |
40,736,024 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7601:Hspa4l
|
UTSW |
3 |
40,738,788 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8072:Hspa4l
|
UTSW |
3 |
40,741,178 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9103:Hspa4l
|
UTSW |
3 |
40,715,349 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9146:Hspa4l
|
UTSW |
3 |
40,736,101 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9762:Hspa4l
|
UTSW |
3 |
40,727,057 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1088:Hspa4l
|
UTSW |
3 |
40,721,425 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTTCTGCAGCACTGTACCTG -3'
(R):5'- GATGTTCAGGGGAAGGTCTGAC -3'
Sequencing Primer
(F):5'- AGCACTGTACCTGCAAGCCTG -3'
(R):5'- GACGCGTTTGCACTCATCAG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation