Incidental Mutation 'R7091:Hspa4l'
| ID |
550195 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hspa4l
|
| Ensembl Gene |
ENSMUSG00000025757 |
| Gene Name |
heat shock protein 4 like |
| Synonyms |
Osp94, APG-1, 94kDa |
| MMRRC Submission |
045185-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.230)
|
| Stock # |
R7091 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
40699814-40750538 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 40736024 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 569
(N569K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145468
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108086]
[ENSMUST00000203353]
[ENSMUST00000204702]
|
| AlphaFold |
P48722 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108086
AA Change: N548K
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000103721
Gene: ENSMUSG00000025757
AA Change: N548K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSP70
|
11 |
673 |
2.1e-171 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203353
AA Change: N569K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000144787
Gene: ENSMUSG00000025757
AA Change: N569K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSP70
|
3 |
570 |
6.2e-184 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204702
AA Change: N569K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000145468
Gene: ENSMUSG00000025757
AA Change: N569K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSP70
|
3 |
694 |
1.3e-192 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (56/57) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd18 |
A |
C |
3: 40,871,173 (GRCm39) |
I111L |
probably damaging |
Het |
| Ank1 |
A |
G |
8: 23,548,679 (GRCm39) |
D11G |
probably benign |
Het |
| Ank2 |
G |
T |
3: 126,817,000 (GRCm39) |
Q472K |
probably damaging |
Het |
| Apbb2 |
A |
T |
5: 66,470,677 (GRCm39) |
L520H |
probably damaging |
Het |
| Baat |
T |
C |
4: 49,499,692 (GRCm39) |
K205E |
probably benign |
Het |
| Brca1 |
T |
A |
11: 101,417,253 (GRCm39) |
M294L |
probably benign |
Het |
| Capn1 |
A |
G |
19: 6,041,586 (GRCm39) |
M641T |
possibly damaging |
Het |
| Cluap1 |
T |
A |
16: 3,758,670 (GRCm39) |
D377E |
probably benign |
Het |
| Col6a2 |
C |
T |
10: 76,450,925 (GRCm39) |
V39I |
unknown |
Het |
| Crybg3 |
T |
A |
16: 59,377,531 (GRCm39) |
D1241V |
possibly damaging |
Het |
| Dnah10 |
A |
G |
5: 124,893,206 (GRCm39) |
K3380R |
probably benign |
Het |
| Eml5 |
T |
C |
12: 98,768,733 (GRCm39) |
I1400M |
probably benign |
Het |
| Fancd2 |
A |
G |
6: 113,522,062 (GRCm39) |
D219G |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,856,535 (GRCm39) |
S1973G |
probably benign |
Het |
| Fsd1 |
G |
A |
17: 56,300,876 (GRCm39) |
R245H |
probably damaging |
Het |
| G3bp1 |
T |
A |
11: 55,387,047 (GRCm39) |
H271Q |
possibly damaging |
Het |
| Glce |
A |
G |
9: 61,967,870 (GRCm39) |
V427A |
probably damaging |
Het |
| Gm5141 |
T |
C |
13: 62,921,778 (GRCm39) |
T464A |
possibly damaging |
Het |
| Gulp1 |
T |
A |
1: 44,805,294 (GRCm39) |
F128I |
probably damaging |
Het |
| H2-T13 |
T |
C |
17: 36,394,833 (GRCm39) |
E30G |
possibly damaging |
Het |
| Hcrtr1 |
A |
C |
4: 130,024,707 (GRCm39) |
L393W |
probably damaging |
Het |
| Heg1 |
T |
C |
16: 33,547,090 (GRCm39) |
S650P |
probably benign |
Het |
| Ifi206 |
A |
G |
1: 173,301,441 (GRCm39) |
F746L |
unknown |
Het |
| Ivl |
T |
C |
3: 92,479,549 (GRCm39) |
D172G |
possibly damaging |
Het |
| Lrp5 |
A |
T |
19: 3,680,184 (GRCm39) |
D433E |
probably damaging |
Het |
| Mgam |
T |
C |
6: 40,745,210 (GRCm39) |
S1826P |
possibly damaging |
Het |
| Ms4a18 |
A |
T |
19: 10,986,092 (GRCm39) |
L206M |
probably damaging |
Het |
| Msln |
A |
T |
17: 25,969,054 (GRCm39) |
C444S |
probably damaging |
Het |
| Mta1 |
A |
G |
12: 113,100,022 (GRCm39) |
D644G |
probably damaging |
Het |
| Muc5ac |
G |
C |
7: 141,363,424 (GRCm39) |
|
probably benign |
Het |
| Naa15 |
T |
C |
3: 51,366,177 (GRCm39) |
|
probably null |
Het |
| Nadk |
A |
G |
4: 155,672,215 (GRCm39) |
H302R |
probably benign |
Het |
| Neb |
T |
A |
2: 52,146,124 (GRCm39) |
N15I |
|
Het |
| Nup153 |
A |
T |
13: 46,837,404 (GRCm39) |
S1273T |
probably benign |
Het |
| Ofcc1 |
A |
G |
13: 40,226,243 (GRCm39) |
I763T |
probably damaging |
Het |
| Or4b13 |
T |
C |
2: 90,082,807 (GRCm39) |
Y175C |
probably damaging |
Het |
| Oxsr1 |
T |
C |
9: 119,113,727 (GRCm39) |
I107V |
probably benign |
Het |
| Prmt5 |
A |
G |
14: 54,748,799 (GRCm39) |
|
probably null |
Het |
| Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
| Ranbp6 |
A |
G |
19: 29,790,116 (GRCm39) |
S79P |
probably damaging |
Het |
| Reln |
T |
C |
5: 22,104,027 (GRCm39) |
I3315V |
probably null |
Het |
| Rnf223 |
T |
C |
4: 156,217,156 (GRCm39) |
V177A |
probably benign |
Het |
| Slc20a1 |
C |
T |
2: 129,050,192 (GRCm39) |
T450M |
possibly damaging |
Het |
| Smg5 |
C |
T |
3: 88,258,654 (GRCm39) |
P542S |
probably benign |
Het |
| Sorl1 |
T |
A |
9: 41,913,930 (GRCm39) |
Q1333L |
probably benign |
Het |
| Spag5 |
T |
A |
11: 78,204,017 (GRCm39) |
|
probably null |
Het |
| Spopfm1 |
T |
C |
3: 94,173,945 (GRCm39) |
F314L |
probably damaging |
Het |
| Tdp2 |
T |
A |
13: 25,022,207 (GRCm39) |
F209I |
probably damaging |
Het |
| Tgm4 |
C |
A |
9: 122,869,525 (GRCm39) |
L35M |
probably damaging |
Het |
| Tma7 |
A |
G |
9: 108,911,580 (GRCm39) |
|
probably benign |
Het |
| Tmprss4 |
A |
T |
9: 45,095,571 (GRCm39) |
V91D |
probably damaging |
Het |
| Tnfsf4 |
T |
A |
1: 161,223,268 (GRCm39) |
M39K |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,543,912 (GRCm39) |
T33025S |
probably benign |
Het |
| Tut1 |
A |
G |
19: 8,943,175 (GRCm39) |
H754R |
probably benign |
Het |
| Vmn2r27 |
T |
G |
6: 124,200,904 (GRCm39) |
Q351P |
possibly damaging |
Het |
| Wee2 |
G |
T |
6: 40,438,936 (GRCm39) |
G353V |
probably benign |
Het |
| Zfp747l1 |
C |
A |
7: 126,983,534 (GRCm39) |
A523S |
possibly damaging |
Het |
| Zfp879 |
T |
A |
11: 50,724,222 (GRCm39) |
H278L |
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 |
|
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 |
|
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'- GTTGCAAATGTAGTAAAGGGTTAGC -3'
(R):5'- GATATCACAGACAACCTTTGACTC -3'
Sequencing Primer
(F):5'- TTCCAGGCAAGCACTTTACTACTGAG -3'
(R):5'- TGACTCCAATACAGTATCAGAATGC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation