Incidental Mutation 'R4366:Hspa4l'
ID |
325736 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hspa4l
|
Ensembl Gene |
ENSMUSG00000025757 |
Gene Name |
heat shock protein 4 like |
Synonyms |
Osp94, APG-1, 94kDa |
MMRRC Submission |
041114-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.221)
|
Stock # |
R4366 (G1)
|
Quality Score |
225 |
Status
|
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: 98.5%
- 10x: 96.8%
- 20x: 93.7%
|
Validation Efficiency |
95% (57/60) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf5 |
A |
C |
17: 43,752,860 (GRCm39) |
T396P |
probably damaging |
Het |
Apob |
A |
T |
12: 8,066,083 (GRCm39) |
I4318F |
possibly damaging |
Het |
Apol7c |
T |
G |
15: 77,410,589 (GRCm39) |
D119A |
probably benign |
Het |
App |
G |
T |
16: 84,853,321 (GRCm39) |
D252E |
unknown |
Het |
C4a |
T |
A |
17: 35,033,885 (GRCm39) |
|
noncoding transcript |
Het |
Cacna1b |
T |
C |
2: 24,592,632 (GRCm39) |
Y515C |
probably damaging |
Het |
Cacna1f |
G |
T |
X: 7,476,213 (GRCm39) |
A123S |
probably damaging |
Het |
Cldn6 |
G |
C |
17: 23,900,494 (GRCm39) |
A153P |
probably benign |
Het |
Cmya5 |
T |
C |
13: 93,228,464 (GRCm39) |
N2208S |
probably benign |
Het |
Csnk1g1 |
A |
G |
9: 65,927,135 (GRCm39) |
T101A |
probably benign |
Het |
Ddx46 |
T |
A |
13: 55,811,049 (GRCm39) |
D544E |
probably benign |
Het |
Dmxl1 |
T |
A |
18: 50,011,084 (GRCm39) |
C1080* |
probably null |
Het |
Dst |
T |
C |
1: 34,290,959 (GRCm39) |
S3335P |
probably damaging |
Het |
Efnb3 |
T |
C |
11: 69,446,771 (GRCm39) |
K313R |
probably damaging |
Het |
Elf2 |
G |
A |
3: 51,215,570 (GRCm39) |
Q47* |
probably null |
Het |
Epc2 |
A |
G |
2: 49,437,566 (GRCm39) |
K657E |
possibly damaging |
Het |
Ephx4 |
A |
G |
5: 107,551,679 (GRCm39) |
|
probably benign |
Het |
Ereg |
T |
C |
5: 91,234,659 (GRCm39) |
I24T |
probably benign |
Het |
Evc2 |
C |
A |
5: 37,496,013 (GRCm39) |
A41D |
possibly damaging |
Het |
Fkbp15 |
A |
G |
4: 62,254,651 (GRCm39) |
V283A |
probably benign |
Het |
Flrt3 |
T |
C |
2: 140,502,327 (GRCm39) |
T434A |
probably damaging |
Het |
Gm572 |
A |
G |
4: 148,739,322 (GRCm39) |
D50G |
possibly damaging |
Het |
Hecw1 |
C |
T |
13: 14,490,749 (GRCm39) |
D748N |
probably damaging |
Het |
Hivep3 |
A |
C |
4: 119,953,286 (GRCm39) |
H534P |
possibly damaging |
Het |
Ipo7 |
T |
C |
7: 109,628,919 (GRCm39) |
M63T |
possibly damaging |
Het |
Ipo7 |
A |
T |
7: 109,647,423 (GRCm39) |
T614S |
possibly damaging |
Het |
Krt87 |
T |
G |
15: 101,385,395 (GRCm39) |
M326L |
probably benign |
Het |
Mbd5 |
T |
A |
2: 49,162,978 (GRCm39) |
N261K |
probably damaging |
Het |
Mcam |
T |
A |
9: 44,045,994 (GRCm39) |
L3Q |
probably damaging |
Het |
Mcoln3 |
C |
A |
3: 145,846,247 (GRCm39) |
T519K |
possibly damaging |
Het |
Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
Mrgprx1 |
C |
A |
7: 47,670,941 (GRCm39) |
A269S |
probably damaging |
Het |
Mypn |
T |
C |
10: 63,028,487 (GRCm39) |
E192G |
probably benign |
Het |
Nup205 |
C |
A |
6: 35,168,962 (GRCm39) |
P397Q |
probably benign |
Het |
Obsl1 |
A |
C |
1: 75,464,693 (GRCm39) |
L1576R |
possibly damaging |
Het |
Ofcc1 |
A |
G |
13: 40,168,937 (GRCm39) |
S817P |
probably benign |
Het |
Or6c210 |
A |
T |
10: 129,496,400 (GRCm39) |
M242L |
probably benign |
Het |
Or8b12c |
A |
T |
9: 37,715,486 (GRCm39) |
H93L |
probably benign |
Het |
Pcdhgb7 |
A |
G |
18: 37,887,125 (GRCm39) |
Y765C |
possibly damaging |
Het |
Pde7a |
A |
G |
3: 19,365,026 (GRCm39) |
|
probably null |
Het |
Phip |
C |
T |
9: 82,782,922 (GRCm39) |
|
probably benign |
Het |
Rhbdl2 |
T |
A |
4: 123,703,728 (GRCm39) |
M1K |
probably null |
Het |
Ripor2 |
C |
T |
13: 24,905,694 (GRCm39) |
P947S |
probably benign |
Het |
Sf3a3 |
A |
G |
4: 124,618,932 (GRCm39) |
T298A |
probably benign |
Het |
Slc25a29 |
C |
T |
12: 108,797,097 (GRCm39) |
|
probably benign |
Het |
Spinkl |
T |
G |
18: 44,307,650 (GRCm39) |
T4P |
possibly damaging |
Het |
Stk33 |
G |
A |
7: 108,879,002 (GRCm39) |
S449L |
probably benign |
Het |
Suz12 |
T |
A |
11: 79,892,988 (GRCm39) |
|
probably benign |
Het |
Timp2 |
T |
A |
11: 118,201,497 (GRCm39) |
I124F |
probably damaging |
Het |
Tlr1 |
C |
T |
5: 65,083,180 (GRCm39) |
D466N |
probably benign |
Het |
Tmem200b |
A |
G |
4: 131,649,781 (GRCm39) |
I234V |
possibly damaging |
Het |
Ubr1 |
C |
A |
2: 120,801,084 (GRCm39) |
|
probably benign |
Het |
Usp33 |
C |
A |
3: 152,074,149 (GRCm39) |
Q332K |
probably benign |
Het |
Zfr |
A |
G |
15: 12,156,416 (GRCm39) |
E634G |
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 |
|
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'- ACATAAGTCCCTAGCTTGTTCTGC -3'
(R):5'- TGACGCGTTTGCACTCATCAG -3'
Sequencing Primer
(F):5'- AGCACTGTACCTGCAAGCCTG -3'
(R):5'- GTTTGCACTCATCAGCTTCTTTAG -3'
|
Posted On |
2015-07-06 |