Incidental Mutation 'R4954:Hspa4l'
ID |
381459 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hspa4l
|
Ensembl Gene |
ENSMUSG00000025757 |
Gene Name |
heat shock protein 4 like |
Synonyms |
Osp94, APG-1, 94kDa |
MMRRC Submission |
042551-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.230)
|
Stock # |
R4954 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
40699814-40750538 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to A
at 40739832 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: ENSMUST00000077083
|
SMART Domains |
Protein: ENSMUSP00000076336 Gene: ENSMUSG00000025757
Domain | Start | End | E-Value | Type |
Pfam:HSP70
|
3 |
694 |
1.3e-192 |
PFAM |
|
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 |
unknown
Transcript: ENSMUST00000160026
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203353
|
SMART Domains |
Protein: ENSMUSP00000144787 Gene: ENSMUSG00000025757
Domain | Start | End | E-Value | Type |
Pfam:HSP70
|
3 |
570 |
6.2e-184 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203425
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204174
|
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 |
0.9493 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
Validation Efficiency |
100% (66/66) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
G |
A |
12: 118,875,169 (GRCm39) |
H668Y |
probably benign |
Het |
Alk |
C |
T |
17: 72,209,687 (GRCm39) |
W919* |
probably null |
Het |
Aoc3 |
G |
A |
11: 101,222,925 (GRCm39) |
G387D |
probably damaging |
Het |
Arhgap26 |
T |
A |
18: 39,376,694 (GRCm39) |
C441S |
probably benign |
Het |
Arhgap28 |
C |
A |
17: 68,176,008 (GRCm39) |
E100* |
probably null |
Het |
Ate1 |
C |
T |
7: 130,110,748 (GRCm39) |
G186D |
probably benign |
Het |
Birc6 |
T |
A |
17: 74,919,026 (GRCm39) |
L1948H |
probably damaging |
Het |
Bmp2k |
C |
T |
5: 97,234,623 (GRCm39) |
|
probably benign |
Het |
Ccin |
A |
T |
4: 43,985,077 (GRCm39) |
I495F |
probably benign |
Het |
Cir1 |
T |
A |
2: 73,140,848 (GRCm39) |
E40D |
probably benign |
Het |
Cyp3a57 |
A |
T |
5: 145,307,765 (GRCm39) |
|
probably null |
Het |
Dennd1b |
A |
G |
1: 138,981,124 (GRCm39) |
T113A |
probably damaging |
Het |
Dnah2 |
G |
A |
11: 69,430,322 (GRCm39) |
P79S |
possibly damaging |
Het |
Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
Dync2i1 |
T |
C |
12: 116,219,645 (GRCm39) |
D99G |
probably damaging |
Het |
Enpep |
A |
T |
3: 129,077,829 (GRCm39) |
I596N |
probably damaging |
Het |
Eps15 |
G |
A |
4: 109,227,875 (GRCm39) |
|
probably null |
Het |
Ext1 |
T |
C |
15: 53,207,888 (GRCm39) |
D291G |
probably damaging |
Het |
Gm12883 |
T |
C |
4: 121,252,198 (GRCm39) |
|
noncoding transcript |
Het |
Gm9921 |
A |
G |
12: 45,484,383 (GRCm39) |
|
noncoding transcript |
Het |
H2-T22 |
C |
A |
17: 36,352,851 (GRCm39) |
W85C |
probably damaging |
Het |
Heatr1 |
G |
A |
13: 12,422,397 (GRCm39) |
|
probably null |
Het |
Kcnc3 |
CTT |
CT |
7: 44,240,720 (GRCm39) |
|
probably null |
Het |
Kpna1 |
T |
C |
16: 35,853,696 (GRCm39) |
V442A |
probably damaging |
Het |
Mogat2 |
T |
C |
7: 98,887,724 (GRCm39) |
T17A |
possibly damaging |
Het |
Musk |
C |
T |
4: 58,344,222 (GRCm39) |
T285I |
probably damaging |
Het |
Myorg |
G |
A |
4: 41,498,241 (GRCm39) |
A463V |
possibly damaging |
Het |
Nbea |
T |
G |
3: 55,943,379 (GRCm39) |
Q632P |
probably damaging |
Het |
Ncoa3 |
T |
C |
2: 165,907,706 (GRCm39) |
V1105A |
probably benign |
Het |
Neb |
T |
C |
2: 52,067,530 (GRCm39) |
|
probably null |
Het |
Nlrp4e |
A |
T |
7: 23,061,318 (GRCm39) |
K970* |
probably null |
Het |
Oog2 |
A |
T |
4: 143,917,302 (GRCm39) |
|
probably benign |
Het |
Or13g1 |
T |
C |
7: 85,955,809 (GRCm39) |
I171V |
probably benign |
Het |
Or2a57 |
A |
G |
6: 43,213,318 (GRCm39) |
M259V |
probably benign |
Het |
Or52a24 |
A |
G |
7: 103,381,414 (GRCm39) |
I94V |
probably damaging |
Het |
Otos |
T |
C |
1: 92,572,167 (GRCm39) |
Y53C |
probably damaging |
Het |
Oxct2a |
A |
T |
4: 123,216,252 (GRCm39) |
C376* |
probably null |
Het |
Pate12 |
A |
T |
9: 36,344,156 (GRCm39) |
K46N |
probably benign |
Het |
Phf14 |
C |
A |
6: 11,987,619 (GRCm39) |
Q633K |
probably benign |
Het |
Pkdrej |
T |
A |
15: 85,700,602 (GRCm39) |
N1778I |
probably damaging |
Het |
Psmc3 |
C |
T |
2: 90,885,974 (GRCm39) |
|
probably benign |
Het |
Rbm33 |
A |
T |
5: 28,544,274 (GRCm39) |
I177F |
probably damaging |
Het |
Rps6ka2 |
A |
G |
17: 7,539,003 (GRCm39) |
D307G |
probably benign |
Het |
Rps6ka2 |
G |
A |
17: 7,566,685 (GRCm39) |
V648I |
probably benign |
Het |
Scn11a |
C |
T |
9: 119,587,725 (GRCm39) |
V1340M |
possibly damaging |
Het |
Sema7a |
T |
C |
9: 57,863,663 (GRCm39) |
W279R |
probably damaging |
Het |
Slc2a10 |
A |
T |
2: 165,356,675 (GRCm39) |
I112F |
probably damaging |
Het |
Stk4 |
C |
A |
2: 163,993,601 (GRCm39) |
S77R |
possibly damaging |
Het |
Stk4 |
T |
A |
2: 163,993,602 (GRCm39) |
W78R |
probably damaging |
Het |
Syf2 |
T |
A |
4: 134,662,283 (GRCm39) |
L99* |
probably null |
Het |
Tas2r104 |
A |
T |
6: 131,661,968 (GRCm39) |
I247K |
probably damaging |
Het |
Usp15 |
G |
T |
10: 122,967,303 (GRCm39) |
R368S |
probably damaging |
Het |
Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
Vmn2r2 |
T |
A |
3: 64,047,905 (GRCm39) |
L20F |
probably benign |
Het |
Zcchc4 |
A |
T |
5: 52,976,559 (GRCm39) |
H451L |
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 |
R4494:Hspa4l
|
UTSW |
3 |
40,707,636 (GRCm39) |
missense |
possibly damaging |
0.86 |
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'- GACAGGAAAGACATGTTTATCATCC -3'
(R):5'- CCTGAGCCTTTTCCCAGAAC -3'
Sequencing Primer
(F):5'- GACATGTTTATCATCCTGTAAGGG -3'
(R):5'- CCAACTTGAGACTATTTGTGAAGTC -3'
|
Posted On |
2016-04-27 |