Incidental Mutation 'R4494:Hspa4l'
ID |
330870 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hspa4l
|
Ensembl Gene |
ENSMUSG00000025757 |
Gene Name |
heat shock protein 4 like |
Synonyms |
Osp94, APG-1, 94kDa |
MMRRC Submission |
041582-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.230)
|
Stock # |
R4494 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
40699814-40750538 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 40707636 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 53
(S53P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103721
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108086]
[ENSMUST00000203353]
[ENSMUST00000203496]
[ENSMUST00000203904]
[ENSMUST00000204702]
|
AlphaFold |
P48722 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108086
AA Change: S53P
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000103721 Gene: ENSMUSG00000025757 AA Change: S53P
Domain | Start | End | E-Value | Type |
Pfam:HSP70
|
11 |
673 |
2.1e-171 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203267
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000203353
AA Change: S74P
PolyPhen 2
Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000144787 Gene: ENSMUSG00000025757 AA Change: S74P
Domain | Start | End | E-Value | Type |
Pfam:HSP70
|
3 |
570 |
6.2e-184 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203496
|
SMART Domains |
Protein: ENSMUSP00000145243 Gene: ENSMUSG00000025757
Domain | Start | End | E-Value | Type |
Pfam:HSP70
|
3 |
58 |
5.4e-16 |
PFAM |
Pfam:HSP70
|
54 |
158 |
9.3e-38 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203904
AA Change: S74P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000145405 Gene: ENSMUSG00000025757 AA Change: S74P
Domain | Start | End | E-Value | Type |
Pfam:HSP70
|
3 |
125 |
6.1e-39 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204702
AA Change: S74P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000145468 Gene: ENSMUSG00000025757 AA Change: S74P
Domain | Start | End | E-Value | Type |
Pfam:HSP70
|
3 |
694 |
1.3e-192 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atf7ip |
T |
A |
6: 136,540,747 (GRCm39) |
|
probably null |
Het |
Cacna1b |
T |
C |
2: 24,542,950 (GRCm39) |
T1301A |
probably damaging |
Het |
Calcr |
A |
T |
6: 3,708,484 (GRCm39) |
|
probably null |
Het |
Camsap1 |
T |
C |
2: 25,842,770 (GRCm39) |
D262G |
probably damaging |
Het |
Ccdc141 |
A |
G |
2: 76,962,641 (GRCm39) |
V101A |
probably damaging |
Het |
Ccdc170 |
T |
C |
10: 4,464,128 (GRCm39) |
Y36H |
probably damaging |
Het |
Cd177 |
A |
T |
7: 24,451,428 (GRCm39) |
S492T |
probably benign |
Het |
Chrna4 |
T |
A |
2: 180,670,281 (GRCm39) |
I492F |
probably damaging |
Het |
Cit |
T |
C |
5: 116,012,043 (GRCm39) |
Y217H |
probably damaging |
Het |
Cnbd1 |
T |
A |
4: 19,098,150 (GRCm39) |
D90V |
probably benign |
Het |
Cryba2 |
A |
G |
1: 74,929,789 (GRCm39) |
F116S |
probably damaging |
Het |
Ctbp1 |
T |
C |
5: 33,408,213 (GRCm39) |
T240A |
possibly damaging |
Het |
D130043K22Rik |
C |
T |
13: 25,055,339 (GRCm39) |
S501L |
probably benign |
Het |
Ddhd2 |
A |
G |
8: 26,228,261 (GRCm39) |
F553S |
probably benign |
Het |
Ddr2 |
C |
A |
1: 169,815,983 (GRCm39) |
G575W |
probably damaging |
Het |
Dip2c |
T |
C |
13: 9,621,098 (GRCm39) |
V537A |
possibly damaging |
Het |
Dnah12 |
C |
T |
14: 26,593,812 (GRCm39) |
A752V |
probably damaging |
Het |
Dnah7a |
T |
C |
1: 53,488,197 (GRCm39) |
D3260G |
probably benign |
Het |
Efemp2 |
T |
A |
19: 5,530,339 (GRCm39) |
C309S |
probably damaging |
Het |
Gse1 |
G |
A |
8: 121,297,553 (GRCm39) |
|
probably benign |
Het |
Ighv5-4 |
T |
C |
12: 113,561,204 (GRCm39) |
D72G |
probably benign |
Het |
Igkv15-103 |
A |
G |
6: 68,414,780 (GRCm39) |
N73S |
probably benign |
Het |
Igsf11 |
T |
G |
16: 38,831,703 (GRCm39) |
N183K |
possibly damaging |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Kcnk18 |
T |
C |
19: 59,223,263 (GRCm39) |
V136A |
probably damaging |
Het |
Krt75 |
A |
T |
15: 101,480,136 (GRCm39) |
Y240* |
probably null |
Het |
Lyst |
G |
A |
13: 13,809,968 (GRCm39) |
R546H |
probably damaging |
Het |
Man2a2 |
C |
T |
7: 80,009,023 (GRCm39) |
|
probably null |
Het |
Mme |
A |
G |
3: 63,254,613 (GRCm39) |
N491S |
probably benign |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Msi2 |
T |
C |
11: 88,608,185 (GRCm39) |
D39G |
possibly damaging |
Het |
Naa60 |
T |
A |
16: 3,718,585 (GRCm39) |
C122* |
probably null |
Het |
Nes |
A |
G |
3: 87,884,120 (GRCm39) |
E793G |
probably damaging |
Het |
Nfkb2 |
A |
G |
19: 46,296,878 (GRCm39) |
D316G |
probably damaging |
Het |
Nme6 |
C |
T |
9: 109,671,122 (GRCm39) |
L121F |
probably damaging |
Het |
Or4k47 |
T |
A |
2: 111,451,493 (GRCm39) |
K309* |
probably null |
Het |
Otud1 |
C |
T |
2: 19,664,146 (GRCm39) |
T425I |
probably damaging |
Het |
Pimreg |
T |
C |
11: 71,935,964 (GRCm39) |
V149A |
probably benign |
Het |
Plbd1 |
T |
C |
6: 136,590,856 (GRCm39) |
I437V |
probably damaging |
Het |
Prlhr |
A |
T |
19: 60,455,519 (GRCm39) |
M349K |
probably benign |
Het |
Slc1a3 |
G |
A |
15: 8,668,579 (GRCm39) |
T462I |
probably damaging |
Het |
Slc25a26 |
A |
G |
6: 94,575,384 (GRCm39) |
T198A |
probably damaging |
Het |
Stkld1 |
A |
G |
2: 26,836,638 (GRCm39) |
N268S |
probably benign |
Het |
Svop |
T |
C |
5: 114,183,688 (GRCm39) |
T195A |
probably damaging |
Het |
Syt6 |
A |
G |
3: 103,492,946 (GRCm39) |
E66G |
probably damaging |
Het |
Tas2r129 |
A |
G |
6: 132,928,317 (GRCm39) |
I85V |
probably benign |
Het |
Tent5a |
A |
G |
9: 85,207,100 (GRCm39) |
S233P |
probably damaging |
Het |
Tprn |
T |
C |
2: 25,158,904 (GRCm39) |
S643P |
probably damaging |
Het |
Ush2a |
C |
T |
1: 188,285,473 (GRCm39) |
T2003I |
possibly damaging |
Het |
Vmn2r17 |
T |
A |
5: 109,576,335 (GRCm39) |
V402E |
probably damaging |
Het |
Vmn2r3 |
C |
G |
3: 64,182,692 (GRCm39) |
G336R |
probably damaging |
Het |
Wdr89 |
A |
T |
12: 75,679,521 (GRCm39) |
D244E |
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 |
|
R4365: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 |
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'- GCTGAATGCAAAGAGGTAATTTGTCAC -3'
(R):5'- GCTTGAAACAGAAGATGATACCTG -3'
Sequencing Primer
(F):5'- TCTGTCTCACTAACTTCTAGGATAAG -3'
(R):5'- GAGGGTATGATGGTAACCTTCTCAC -3'
|
Posted On |
2015-07-21 |