Incidental Mutation 'R0487:Hspa4l'
| ID |
42326 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hspa4l
|
| Ensembl Gene |
ENSMUSG00000025757 |
| Gene Name |
heat shock protein 4 like |
| Synonyms |
Osp94, APG-1, 94kDa |
| MMRRC Submission |
038686-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.221)
|
| Stock # |
R0487 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
40699814-40750538 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 40738758 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 616
(T616I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103721
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108086]
[ENSMUST00000203353]
[ENSMUST00000204702]
|
| AlphaFold |
P48722 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077083
AA Change: T637I
PolyPhen 2
Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000076336
Gene: ENSMUSG00000025757
AA Change: T637I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSP70
|
3 |
694 |
1.3e-192 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108086
AA Change: T616I
PolyPhen 2
Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000103721
Gene: ENSMUSG00000025757
AA Change: T616I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSP70
|
11 |
673 |
2.1e-171 |
PFAM |
|
| 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 benign
Transcript: ENSMUST00000204702
AA Change: T637I
PolyPhen 2
Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000145468
Gene: ENSMUSG00000025757
AA Change: T637I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSP70
|
3 |
694 |
1.3e-192 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.6%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,281,687 (GRCm39) |
M3190L |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,637,154 (GRCm39) |
L3429H |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,991,484 (GRCm39) |
D4256G |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,984,515 (GRCm39) |
N1933S |
probably benign |
Het |
| Amacr |
A |
G |
15: 10,984,835 (GRCm39) |
D151G |
probably benign |
Het |
| Ano9 |
A |
T |
7: 140,687,762 (GRCm39) |
H255Q |
possibly damaging |
Het |
| Asphd2 |
A |
T |
5: 112,539,501 (GRCm39) |
Y111N |
possibly damaging |
Het |
| Cage1 |
T |
A |
13: 38,209,334 (GRCm39) |
K214N |
probably benign |
Het |
| Cdkn2c |
A |
G |
4: 109,518,606 (GRCm39) |
L116P |
probably damaging |
Het |
| Cltc |
C |
T |
11: 86,624,490 (GRCm39) |
R148H |
probably damaging |
Het |
| Cmbl |
A |
G |
15: 31,582,176 (GRCm39) |
N58D |
probably damaging |
Het |
| Cpa6 |
T |
C |
1: 10,479,487 (GRCm39) |
T249A |
possibly damaging |
Het |
| Cpsf1 |
T |
A |
15: 76,481,202 (GRCm39) |
N1218I |
probably damaging |
Het |
| Csf2rb |
T |
C |
15: 78,232,531 (GRCm39) |
S613P |
probably benign |
Het |
| Ctnnd1 |
A |
G |
2: 84,439,411 (GRCm39) |
S761P |
probably damaging |
Het |
| Cxcr6 |
A |
C |
9: 123,639,463 (GRCm39) |
I155L |
probably benign |
Het |
| Ecpas |
A |
G |
4: 58,819,155 (GRCm39) |
V1265A |
probably damaging |
Het |
| Fam216a |
A |
G |
5: 122,508,576 (GRCm39) |
|
probably null |
Het |
| Fgf10 |
T |
A |
13: 118,918,147 (GRCm39) |
|
probably null |
Het |
| Fgf17 |
T |
C |
14: 70,875,996 (GRCm39) |
T79A |
probably damaging |
Het |
| G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
| Gm1527 |
G |
T |
3: 28,980,828 (GRCm39) |
V643L |
probably benign |
Het |
| Hmcn2 |
A |
T |
2: 31,276,689 (GRCm39) |
Q1556L |
possibly damaging |
Het |
| Irag2 |
A |
G |
6: 145,110,986 (GRCm39) |
S264G |
probably benign |
Het |
| Irgm1 |
T |
C |
11: 48,757,154 (GRCm39) |
D219G |
probably damaging |
Het |
| Jcad |
A |
G |
18: 4,673,243 (GRCm39) |
D335G |
probably damaging |
Het |
| Kcnh4 |
A |
G |
11: 100,641,084 (GRCm39) |
F455S |
probably damaging |
Het |
| Khdrbs3 |
T |
C |
15: 68,889,210 (GRCm39) |
Y120H |
probably damaging |
Het |
| Kndc1 |
A |
T |
7: 139,493,939 (GRCm39) |
T507S |
probably null |
Het |
| Lepr |
G |
T |
4: 101,625,290 (GRCm39) |
E482* |
probably null |
Het |
| Mcemp1 |
T |
A |
8: 3,717,507 (GRCm39) |
M146K |
probably benign |
Het |
| Mllt10 |
A |
G |
2: 18,211,948 (GRCm39) |
T411A |
probably damaging |
Het |
| Myh8 |
A |
T |
11: 67,192,837 (GRCm39) |
I1543L |
probably benign |
Het |
| Myo1f |
T |
C |
17: 33,797,258 (GRCm39) |
S147P |
probably damaging |
Het |
| Myrf |
G |
C |
19: 10,195,526 (GRCm39) |
T428S |
probably benign |
Het |
| Or5j1 |
C |
T |
2: 86,878,837 (GRCm39) |
V248I |
probably damaging |
Het |
| Plaat1 |
G |
A |
16: 29,039,331 (GRCm39) |
|
probably null |
Het |
| Plch2 |
G |
A |
4: 155,093,469 (GRCm39) |
R57C |
probably damaging |
Het |
| Rbm20 |
G |
A |
19: 53,839,626 (GRCm39) |
G872R |
probably damaging |
Het |
| Retsat |
A |
T |
6: 72,583,414 (GRCm39) |
I373F |
probably damaging |
Het |
| Rnf145 |
T |
C |
11: 44,446,056 (GRCm39) |
F297L |
probably benign |
Het |
| Ros1 |
A |
T |
10: 52,031,204 (GRCm39) |
M479K |
possibly damaging |
Het |
| Rubcnl |
T |
A |
14: 75,273,521 (GRCm39) |
N244K |
probably benign |
Het |
| Samhd1 |
A |
G |
2: 156,952,535 (GRCm39) |
F406L |
probably damaging |
Het |
| Sdsl |
A |
T |
5: 120,597,533 (GRCm39) |
V258D |
probably damaging |
Het |
| Sec24c |
C |
G |
14: 20,733,467 (GRCm39) |
P166A |
probably benign |
Het |
| Sele |
C |
A |
1: 163,881,184 (GRCm39) |
Y461* |
probably null |
Het |
| Slc22a1 |
G |
T |
17: 12,881,487 (GRCm39) |
S334* |
probably null |
Het |
| Spem1 |
T |
G |
11: 69,712,691 (GRCm39) |
|
probably null |
Het |
| Stat3 |
T |
C |
11: 100,794,469 (GRCm39) |
E280G |
probably damaging |
Het |
| Stxbp4 |
T |
C |
11: 90,483,186 (GRCm39) |
H280R |
probably benign |
Het |
| Tas2r129 |
G |
A |
6: 132,928,906 (GRCm39) |
C281Y |
probably benign |
Het |
| Tas2r129 |
T |
G |
6: 132,928,907 (GRCm39) |
C281W |
probably benign |
Het |
| Tcp11 |
T |
A |
17: 28,298,897 (GRCm39) |
|
probably null |
Het |
| Tnrc6b |
G |
A |
15: 80,764,876 (GRCm39) |
V793M |
probably benign |
Het |
| Vmn2r59 |
A |
C |
7: 41,696,528 (GRCm39) |
Y71* |
probably null |
Het |
| Wdr35 |
T |
C |
12: 9,062,743 (GRCm39) |
|
probably null |
Het |
| Zan |
A |
G |
5: 137,411,620 (GRCm39) |
|
probably null |
Het |
| Zap70 |
G |
T |
1: 36,818,365 (GRCm39) |
V351L |
probably damaging |
Het |
| Zfp609 |
G |
T |
9: 65,609,916 (GRCm39) |
Q1016K |
unknown |
Het |
| Zfp641 |
C |
A |
15: 98,187,060 (GRCm39) |
V188L |
probably benign |
Het |
| Zpld2 |
A |
T |
4: 133,930,089 (GRCm39) |
L72Q |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2013-05-23 |
Incidental Mutation