Incidental Mutation 'R9371:Hsph1'
| ID |
709305 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hsph1
|
| Ensembl Gene |
ENSMUSG00000029657 |
| Gene Name |
heat shock 105kDa/110kDa protein 1 |
| Synonyms |
HSP110, hsp110/105, hsp-E7I, Hsp105 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.618)
|
| Stock # |
R9371 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
149537752-149559841 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 149543395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 644
(Y644N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144654
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074846]
[ENSMUST00000201452]
[ENSMUST00000202089]
[ENSMUST00000202361]
|
| AlphaFold |
Q61699 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074846
AA Change: Y600N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074392
Gene: ENSMUSG00000029657
AA Change: Y600N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSP70
|
3 |
709 |
7.3e-190 |
PFAM |
|
low complexity region
|
756 |
768 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201452
AA Change: Y644N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144654
Gene: ENSMUSG00000029657
AA Change: Y644N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSP70
|
3 |
709 |
7.3e-190 |
PFAM |
|
low complexity region
|
756 |
768 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202089
AA Change: Y603N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144297
Gene: ENSMUSG00000029657
AA Change: Y603N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSP70
|
3 |
103 |
1.3e-33 |
PFAM |
|
Pfam:HSP70
|
98 |
668 |
8.5e-135 |
PFAM |
|
low complexity region
|
715 |
727 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202361
AA Change: Y644N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144413
Gene: ENSMUSG00000029657
AA Change: Y644N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSP70
|
3 |
709 |
7.3e-190 |
PFAM |
|
low complexity region
|
756 |
768 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (56/56) |
| MGI Phenotype |
PHENOTYPE: Homozygous inactivation of this gene leads to decreased susceptibility to ischemic brain injury. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009J06Rik |
T |
C |
6: 40,943,663 (GRCm39) |
I109T |
probably damaging |
Het |
| 2200002D01Rik |
CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
7: 28,947,048 (GRCm39) |
|
probably benign |
Het |
| Abca8b |
T |
G |
11: 109,858,498 (GRCm39) |
Q568P |
probably damaging |
Het |
| Add3 |
A |
G |
19: 53,221,499 (GRCm39) |
T204A |
probably damaging |
Het |
| Afg3l2 |
C |
A |
18: 67,567,262 (GRCm39) |
R196L |
possibly damaging |
Het |
| Agps |
T |
A |
2: 75,742,024 (GRCm39) |
|
probably null |
Het |
| Akap9 |
A |
G |
5: 4,011,852 (GRCm39) |
S852G |
possibly damaging |
Het |
| Aoc1 |
A |
G |
6: 48,883,102 (GRCm39) |
D326G |
probably benign |
Het |
| Cecr2 |
A |
G |
6: 120,739,229 (GRCm39) |
T1319A |
probably benign |
Het |
| Cenpo |
C |
T |
12: 4,266,686 (GRCm39) |
V141I |
probably benign |
Het |
| Clca4b |
A |
G |
3: 144,631,845 (GRCm39) |
L220S |
possibly damaging |
Het |
| Dicer1 |
A |
G |
12: 104,670,991 (GRCm39) |
L1017P |
probably damaging |
Het |
| Ero1b |
T |
G |
13: 12,589,728 (GRCm39) |
C44G |
probably damaging |
Het |
| Ffar2 |
A |
T |
7: 30,518,929 (GRCm39) |
W204R |
probably benign |
Het |
| Fmo3 |
T |
A |
1: 162,796,281 (GRCm39) |
E97V |
probably benign |
Het |
| Gcnt4 |
G |
T |
13: 97,083,634 (GRCm39) |
R310L |
possibly damaging |
Het |
| Gm7298 |
A |
G |
6: 121,744,541 (GRCm39) |
I520V |
probably benign |
Het |
| Gmpr |
T |
C |
13: 45,699,471 (GRCm39) |
L327P |
probably damaging |
Het |
| Grid2 |
T |
A |
6: 64,677,506 (GRCm39) |
H108Q |
unknown |
Het |
| Hmcn2 |
G |
T |
2: 31,301,917 (GRCm39) |
L2935F |
probably damaging |
Het |
| Hnf1b |
T |
C |
11: 83,779,986 (GRCm39) |
S440P |
probably benign |
Het |
| Igf2r |
A |
G |
17: 12,924,646 (GRCm39) |
I1057T |
possibly damaging |
Het |
| Igfn1 |
T |
C |
1: 135,906,001 (GRCm39) |
E269G |
probably damaging |
Het |
| Igkv14-126 |
A |
G |
6: 67,873,352 (GRCm39) |
T27A |
possibly damaging |
Het |
| Inhca |
A |
T |
9: 103,158,252 (GRCm39) |
Y103N |
probably benign |
Het |
| Kcnj15 |
A |
G |
16: 95,097,556 (GRCm39) |
R393G |
unknown |
Het |
| Lamb1 |
A |
G |
12: 31,348,863 (GRCm39) |
T632A |
probably damaging |
Het |
| Lrrk2 |
T |
C |
15: 91,607,407 (GRCm39) |
L590P |
probably damaging |
Het |
| Mrm3 |
A |
G |
11: 76,138,286 (GRCm39) |
T225A |
possibly damaging |
Het |
| Mthfd1l |
A |
G |
10: 4,053,335 (GRCm39) |
T895A |
possibly damaging |
Het |
| Myh1 |
G |
A |
11: 67,110,631 (GRCm39) |
|
probably null |
Het |
| Naip2 |
T |
A |
13: 100,298,354 (GRCm39) |
K561* |
probably null |
Het |
| Necab2 |
C |
T |
8: 120,173,923 (GRCm39) |
P44S |
probably benign |
Het |
| Nrde2 |
T |
C |
12: 100,092,477 (GRCm39) |
S1126G |
probably benign |
Het |
| Nup210l |
C |
T |
3: 90,107,173 (GRCm39) |
P1570L |
probably benign |
Het |
| Or14j6 |
A |
G |
17: 38,214,962 (GRCm39) |
H175R |
probably benign |
Het |
| Or8c17 |
T |
A |
9: 38,179,926 (GRCm39) |
V31E |
possibly damaging |
Het |
| Pecam1 |
T |
G |
11: 106,581,947 (GRCm39) |
D333A |
probably benign |
Het |
| Prss27 |
T |
C |
17: 24,257,141 (GRCm39) |
|
probably benign |
Het |
| Rapgef2 |
T |
C |
3: 79,082,300 (GRCm39) |
E100G |
probably damaging |
Het |
| Rnft2 |
A |
G |
5: 118,340,982 (GRCm39) |
F299L |
probably damaging |
Het |
| Rptor |
A |
G |
11: 119,562,152 (GRCm39) |
N105S |
possibly damaging |
Het |
| S100a7l2 |
T |
C |
3: 90,997,698 (GRCm39) |
T6A |
unknown |
Het |
| Scgb2b3 |
T |
A |
7: 31,059,642 (GRCm39) |
H44L |
probably benign |
Het |
| Slc22a17 |
A |
T |
14: 55,147,139 (GRCm39) |
V53D |
possibly damaging |
Het |
| Slc39a14 |
G |
A |
14: 70,547,569 (GRCm39) |
T298M |
probably benign |
Het |
| Sorbs1 |
G |
A |
19: 40,315,324 (GRCm39) |
T496M |
probably damaging |
Het |
| Spata31e1 |
G |
C |
13: 49,939,052 (GRCm39) |
T886S |
unknown |
Het |
| Taar8a |
T |
C |
10: 23,952,753 (GRCm39) |
V119A |
probably benign |
Het |
| Tas1r3 |
T |
C |
4: 155,945,059 (GRCm39) |
T721A |
possibly damaging |
Het |
| Tm7sf3 |
C |
T |
6: 146,525,179 (GRCm39) |
D89N |
possibly damaging |
Het |
| Tmie |
A |
T |
9: 110,696,651 (GRCm39) |
C77S |
probably damaging |
Het |
| Tpp2 |
T |
A |
1: 43,999,369 (GRCm39) |
I381K |
probably damaging |
Het |
| Ttn |
G |
C |
2: 76,776,822 (GRCm39) |
A1526G |
unknown |
Het |
| Vmn2r12 |
T |
A |
5: 109,234,452 (GRCm39) |
M587L |
probably benign |
Het |
| Zeb2 |
G |
T |
2: 44,888,912 (GRCm39) |
H344Q |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,810,800 (GRCm39) |
I753T |
probably damaging |
Het |
| Zfp442 |
A |
T |
2: 150,250,676 (GRCm39) |
C409S |
unknown |
Het |
| Zfp677 |
C |
T |
17: 21,618,053 (GRCm39) |
T370M |
probably damaging |
Het |
| Zfp947 |
G |
A |
17: 22,364,384 (GRCm39) |
T430I |
possibly damaging |
Het |
|
| Other mutations in Hsph1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00539:Hsph1
|
APN |
5 |
149,542,254 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL00839:Hsph1
|
APN |
5 |
149,541,919 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL00965:Hsph1
|
APN |
5 |
149,554,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01529:Hsph1
|
APN |
5 |
149,559,499 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01613:Hsph1
|
APN |
5 |
149,550,743 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL02023:Hsph1
|
APN |
5 |
149,557,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02272:Hsph1
|
APN |
5 |
149,540,995 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02754:Hsph1
|
APN |
5 |
149,547,057 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0666:Hsph1
|
UTSW |
5 |
149,554,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1061:Hsph1
|
UTSW |
5 |
149,541,883 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1163:Hsph1
|
UTSW |
5 |
149,554,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1511:Hsph1
|
UTSW |
5 |
149,553,848 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1794:Hsph1
|
UTSW |
5 |
149,554,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1806:Hsph1
|
UTSW |
5 |
149,553,454 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1847:Hsph1
|
UTSW |
5 |
149,546,950 (GRCm39) |
nonsense |
probably null |
|
|
R2143:Hsph1
|
UTSW |
5 |
149,554,951 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2144:Hsph1
|
UTSW |
5 |
149,553,802 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2917:Hsph1
|
UTSW |
5 |
149,554,251 (GRCm39) |
nonsense |
probably null |
|
|
R3840:Hsph1
|
UTSW |
5 |
149,544,180 (GRCm39) |
splice site |
probably null |
|
|
R3841:Hsph1
|
UTSW |
5 |
149,544,180 (GRCm39) |
splice site |
probably null |
|
|
R4378:Hsph1
|
UTSW |
5 |
149,559,472 (GRCm39) |
nonsense |
probably null |
|
|
R4577:Hsph1
|
UTSW |
5 |
149,542,308 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4618:Hsph1
|
UTSW |
5 |
149,542,308 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4621:Hsph1
|
UTSW |
5 |
149,542,308 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5898:Hsph1
|
UTSW |
5 |
149,548,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6114:Hsph1
|
UTSW |
5 |
149,550,852 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6185:Hsph1
|
UTSW |
5 |
149,541,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6432:Hsph1
|
UTSW |
5 |
149,542,441 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6678:Hsph1
|
UTSW |
5 |
149,541,962 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7014:Hsph1
|
UTSW |
5 |
149,553,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7189:Hsph1
|
UTSW |
5 |
149,553,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7438:Hsph1
|
UTSW |
5 |
149,542,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7502:Hsph1
|
UTSW |
5 |
149,553,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7621:Hsph1
|
UTSW |
5 |
149,555,540 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7625:Hsph1
|
UTSW |
5 |
149,541,901 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8480:Hsph1
|
UTSW |
5 |
149,551,029 (GRCm39) |
missense |
probably null |
1.00 |
|
R8841:Hsph1
|
UTSW |
5 |
149,550,789 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8858:Hsph1
|
UTSW |
5 |
149,548,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9031:Hsph1
|
UTSW |
5 |
149,553,270 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAAAGACATGCAGCACTC -3'
(R):5'- AAGCAGTGTCCACATGTGTATATG -3'
Sequencing Primer
(F):5'- ATGCAGCACTCACGGCAG -3'
(R):5'- TGTATATGAATCTAAGGACCATGAGG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation