Incidental Mutation 'R9145:Hsp90aa1'
| ID |
694597 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hsp90aa1
|
| Ensembl Gene |
ENSMUSG00000021270 |
| Gene Name |
heat shock protein 90, alpha (cytosolic), class A member 1 |
| Synonyms |
Hspca, Hsp86-1, Hsp89, hsp4, Hsp90 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9145 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
110657470-110662829 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 110662684 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091921
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021698]
[ENSMUST00000094361]
[ENSMUST00000094361]
[ENSMUST00000094361]
[ENSMUST00000124156]
[ENSMUST00000149189]
[ENSMUST00000155242]
|
| AlphaFold |
P07901 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021698
|
| SMART Domains |
Protein: ENSMUSP00000021698
Gene: ENSMUSG00000021270
| Domain | Start | End | E-Value | Type |
|---|
|
HATPase_c
|
40 |
194 |
2.94e-11 |
SMART |
|
Pfam:HSP90
|
196 |
733 |
6.7e-272 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000094361
|
| SMART Domains |
Protein: ENSMUSP00000091921
Gene: ENSMUSG00000021270
| Domain | Start | End | E-Value | Type |
|---|
|
HATPase_c
|
40 |
194 |
2.94e-11 |
SMART |
|
Pfam:HSP90
|
196 |
728 |
2e-245 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000094361
|
| SMART Domains |
Protein: ENSMUSP00000091921
Gene: ENSMUSG00000021270
| Domain | Start | End | E-Value | Type |
|---|
|
HATPase_c
|
40 |
194 |
2.94e-11 |
SMART |
|
Pfam:HSP90
|
196 |
728 |
2e-245 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000094361
|
| SMART Domains |
Protein: ENSMUSP00000091921
Gene: ENSMUSG00000021270
| Domain | Start | End | E-Value | Type |
|---|
|
HATPase_c
|
40 |
194 |
2.94e-11 |
SMART |
|
Pfam:HSP90
|
196 |
728 |
2e-245 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124156
|
| SMART Domains |
Protein: ENSMUSP00000121138
Gene: ENSMUSG00000021270
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3HHU|B
|
1 |
103 |
1e-69 |
PDB |
|
SCOP:d1byqa_
|
11 |
103 |
5e-48 |
SMART |
|
Blast:HATPase_c
|
40 |
103 |
7e-39 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149189
|
| SMART Domains |
Protein: ENSMUSP00000114201
Gene: ENSMUSG00000021270
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3HHU|B
|
1 |
98 |
6e-66 |
PDB |
|
SCOP:d1byqa_
|
11 |
98 |
2e-45 |
SMART |
|
Blast:HATPase_c
|
40 |
98 |
2e-35 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155242
|
| SMART Domains |
Protein: ENSMUSP00000118189
Gene: ENSMUSG00000021270
| Domain | Start | End | E-Value | Type |
|---|
|
HATPase_c
|
40 |
194 |
2.94e-11 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (79/79) |
| 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 an inducible molecular chaperone that functions as a homodimer. The encoded protein aids in the proper folding of specific target proteins by use of an ATPase activity that is modulated by co-chaperones. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit male sterility associated with arrested male meiosis and male germ cell apoptosis. Mice homozygous for a transgenic gene disruption exhibit male sterility and small testis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
A |
6: 128,536,032 (GRCm39) |
H720L |
probably benign |
Het |
| Abca15 |
T |
C |
7: 119,987,388 (GRCm39) |
Y1225H |
probably benign |
Het |
| Adck1 |
C |
A |
12: 88,335,193 (GRCm39) |
N26K |
probably benign |
Het |
| Adcy3 |
A |
G |
12: 4,245,208 (GRCm39) |
D382G |
probably damaging |
Het |
| Ahi1 |
T |
A |
10: 20,876,488 (GRCm39) |
C800S |
probably benign |
Het |
| Ahnak |
G |
T |
19: 8,992,287 (GRCm39) |
V4524L |
probably benign |
Het |
| Aoc1l1 |
C |
A |
6: 48,952,890 (GRCm39) |
R272S |
probably benign |
Het |
| Apol11a |
C |
T |
15: 77,397,778 (GRCm39) |
A43V |
probably benign |
Het |
| Arid1a |
T |
C |
4: 133,421,214 (GRCm39) |
M479V |
unknown |
Het |
| Atp13a2 |
T |
A |
4: 140,724,056 (GRCm39) |
C324S |
probably damaging |
Het |
| C2cd2 |
T |
G |
16: 97,677,486 (GRCm39) |
T413P |
probably damaging |
Het |
| Cct5 |
A |
C |
15: 31,591,107 (GRCm39) |
D531E |
|
Het |
| Chst1 |
A |
T |
2: 92,444,523 (GRCm39) |
I332F |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,527,344 (GRCm39) |
V2662D |
probably benign |
Het |
| Cts3 |
A |
G |
13: 61,712,800 (GRCm39) |
Y307H |
probably benign |
Het |
| D630023F18Rik |
G |
A |
1: 65,160,371 (GRCm39) |
|
probably benign |
Het |
| Dhx9 |
A |
G |
1: 153,336,826 (GRCm39) |
I807T |
probably damaging |
Het |
| Exoc3l4 |
T |
C |
12: 111,388,586 (GRCm39) |
L25P |
probably benign |
Het |
| Ggcx |
T |
A |
6: 72,402,905 (GRCm39) |
C288S |
probably benign |
Het |
| Gjb3 |
A |
G |
4: 127,220,140 (GRCm39) |
Y131H |
probably damaging |
Het |
| Hdhd3 |
A |
G |
4: 62,417,574 (GRCm39) |
S201P |
probably benign |
Het |
| Helz2 |
A |
T |
2: 180,881,848 (GRCm39) |
V315E |
probably damaging |
Het |
| Ift70a1 |
A |
T |
2: 75,810,423 (GRCm39) |
Y553* |
probably null |
Het |
| Il12a |
C |
T |
3: 68,598,875 (GRCm39) |
R19W |
unknown |
Het |
| Isoc1 |
C |
T |
18: 58,806,347 (GRCm39) |
A219V |
possibly damaging |
Het |
| Jup |
T |
A |
11: 100,269,124 (GRCm39) |
T430S |
probably benign |
Het |
| Klra5 |
C |
T |
6: 129,886,911 (GRCm39) |
C39Y |
probably benign |
Het |
| Map4 |
A |
T |
9: 109,855,268 (GRCm39) |
Q131L |
probably damaging |
Het |
| Mau2 |
T |
A |
8: 70,480,165 (GRCm39) |
K314M |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,794,493 (GRCm39) |
M2726V |
probably benign |
Het |
| Mgme1 |
G |
A |
2: 144,114,405 (GRCm39) |
|
probably null |
Het |
| Msrb2 |
A |
G |
2: 19,399,066 (GRCm39) |
E143G |
probably benign |
Het |
| Muc5b |
G |
T |
7: 141,411,350 (GRCm39) |
C1432F |
unknown |
Het |
| Naglu |
T |
C |
11: 100,961,940 (GRCm39) |
Y138H |
probably damaging |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,109,193 (GRCm39) |
Y103H |
probably benign |
Het |
| Nodal |
A |
G |
10: 61,259,459 (GRCm39) |
N299D |
probably damaging |
Het |
| Notch1 |
T |
C |
2: 26,349,587 (GRCm39) |
T2518A |
probably benign |
Het |
| Nr2e1 |
A |
C |
10: 42,448,948 (GRCm39) |
S97A |
probably benign |
Het |
| Nuak1 |
A |
T |
10: 84,210,587 (GRCm39) |
S500R |
probably benign |
Het |
| Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
| Nyap1 |
T |
C |
5: 137,736,175 (GRCm39) |
E104G |
probably benign |
Het |
| Or3a1b |
C |
T |
11: 74,012,526 (GRCm39) |
T137I |
probably benign |
Het |
| Or52e18 |
T |
A |
7: 104,609,204 (GRCm39) |
H245L |
probably damaging |
Het |
| Palld |
T |
C |
8: 62,330,107 (GRCm39) |
T257A |
probably benign |
Het |
| Pcnx4 |
C |
T |
12: 72,603,043 (GRCm39) |
P435L |
probably damaging |
Het |
| Piezo1 |
T |
C |
8: 123,208,753 (GRCm39) |
T2538A |
unknown |
Het |
| Plagl1 |
T |
C |
10: 13,003,872 (GRCm39) |
L380P |
unknown |
Het |
| Polrmt |
G |
T |
10: 79,576,415 (GRCm39) |
Q514K |
probably benign |
Het |
| Psg17 |
T |
G |
7: 18,553,851 (GRCm39) |
D133A |
probably benign |
Het |
| Rab3b |
G |
A |
4: 108,797,903 (GRCm39) |
D185N |
probably benign |
Het |
| Ranbp2 |
T |
A |
10: 58,291,736 (GRCm39) |
S248T |
probably benign |
Het |
| Rdh10 |
C |
A |
1: 16,199,430 (GRCm39) |
A212D |
probably damaging |
Het |
| Rinl |
A |
G |
7: 28,495,089 (GRCm39) |
H154R |
|
Het |
| Selenbp1 |
T |
C |
3: 94,851,414 (GRCm39) |
M389T |
probably benign |
Het |
| Serpina1c |
T |
A |
12: 103,862,400 (GRCm39) |
H305L |
possibly damaging |
Het |
| Sh3rf2 |
T |
A |
18: 42,282,746 (GRCm39) |
S467T |
|
Het |
| Sipa1l1 |
A |
G |
12: 82,443,335 (GRCm39) |
D875G |
probably benign |
Het |
| Slc10a6 |
A |
T |
5: 103,776,800 (GRCm39) |
V100D |
probably damaging |
Het |
| Slc13a4 |
T |
C |
6: 35,247,290 (GRCm39) |
I577V |
possibly damaging |
Het |
| Slc20a2 |
T |
C |
8: 23,030,447 (GRCm39) |
F168L |
probably benign |
Het |
| Slc25a1 |
A |
T |
16: 17,745,108 (GRCm39) |
|
probably null |
Het |
| Slc5a12 |
A |
G |
2: 110,471,242 (GRCm39) |
S495G |
probably benign |
Het |
| Smpdl3a |
A |
G |
10: 57,677,028 (GRCm39) |
D42G |
possibly damaging |
Het |
| Spag16 |
G |
C |
1: 70,420,459 (GRCm39) |
L482F |
probably damaging |
Het |
| Susd5 |
G |
A |
9: 113,925,289 (GRCm39) |
G391R |
probably damaging |
Het |
| Sync |
G |
T |
4: 129,187,618 (GRCm39) |
A217S |
|
Het |
| Tha1 |
T |
A |
11: 117,759,512 (GRCm39) |
N326Y |
probably damaging |
Het |
| Tjp1 |
A |
T |
7: 64,952,564 (GRCm39) |
F1590Y |
probably benign |
Het |
| Tle4 |
T |
C |
19: 14,445,583 (GRCm39) |
N221S |
probably benign |
Het |
| Tln1 |
T |
C |
4: 43,536,024 (GRCm39) |
T2054A |
probably damaging |
Het |
| Ttll4 |
A |
G |
1: 74,718,949 (GRCm39) |
K267E |
probably benign |
Het |
| Usp32 |
C |
T |
11: 84,913,118 (GRCm39) |
G930D |
probably damaging |
Het |
| Vmn2r75 |
T |
C |
7: 85,813,447 (GRCm39) |
N452D |
probably damaging |
Het |
| Vmn2r81 |
T |
C |
10: 79,104,028 (GRCm39) |
L217P |
possibly damaging |
Het |
| Wnt2 |
T |
A |
6: 18,030,397 (GRCm39) |
|
probably benign |
Het |
| Zfp459 |
C |
T |
13: 67,556,735 (GRCm39) |
S116N |
probably benign |
Het |
| Zfp981 |
C |
A |
4: 146,622,410 (GRCm39) |
T445N |
possibly damaging |
Het |
|
| Other mutations in Hsp90aa1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02056:Hsp90aa1
|
APN |
12 |
110,660,449 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02243:Hsp90aa1
|
APN |
12 |
110,661,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02865:Hsp90aa1
|
APN |
12 |
110,659,516 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02965:Hsp90aa1
|
APN |
12 |
110,662,113 (GRCm39) |
start codon destroyed |
probably null |
0.95 |
|
R0827:Hsp90aa1
|
UTSW |
12 |
110,659,129 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1331:Hsp90aa1
|
UTSW |
12 |
110,659,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1498:Hsp90aa1
|
UTSW |
12 |
110,662,122 (GRCm39) |
splice site |
probably null |
|
|
R2039:Hsp90aa1
|
UTSW |
12 |
110,660,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2082:Hsp90aa1
|
UTSW |
12 |
110,659,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2102:Hsp90aa1
|
UTSW |
12 |
110,660,566 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2169:Hsp90aa1
|
UTSW |
12 |
110,659,168 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2194:Hsp90aa1
|
UTSW |
12 |
110,662,115 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2194:Hsp90aa1
|
UTSW |
12 |
110,662,114 (GRCm39) |
start codon destroyed |
possibly damaging |
0.59 |
|
R2359:Hsp90aa1
|
UTSW |
12 |
110,661,003 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2364:Hsp90aa1
|
UTSW |
12 |
110,659,187 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2393:Hsp90aa1
|
UTSW |
12 |
110,659,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2398:Hsp90aa1
|
UTSW |
12 |
110,658,755 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2435:Hsp90aa1
|
UTSW |
12 |
110,662,115 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2435:Hsp90aa1
|
UTSW |
12 |
110,662,114 (GRCm39) |
start codon destroyed |
possibly damaging |
0.59 |
|
R2924:Hsp90aa1
|
UTSW |
12 |
110,662,115 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2924:Hsp90aa1
|
UTSW |
12 |
110,662,114 (GRCm39) |
start codon destroyed |
possibly damaging |
0.59 |
|
R2925:Hsp90aa1
|
UTSW |
12 |
110,662,115 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2925:Hsp90aa1
|
UTSW |
12 |
110,662,114 (GRCm39) |
start codon destroyed |
possibly damaging |
0.59 |
|
R3176:Hsp90aa1
|
UTSW |
12 |
110,662,115 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3176:Hsp90aa1
|
UTSW |
12 |
110,662,114 (GRCm39) |
start codon destroyed |
possibly damaging |
0.59 |
|
R3177:Hsp90aa1
|
UTSW |
12 |
110,662,115 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3177:Hsp90aa1
|
UTSW |
12 |
110,662,114 (GRCm39) |
start codon destroyed |
possibly damaging |
0.59 |
|
R3276:Hsp90aa1
|
UTSW |
12 |
110,662,115 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3276:Hsp90aa1
|
UTSW |
12 |
110,662,114 (GRCm39) |
start codon destroyed |
possibly damaging |
0.59 |
|
R3277:Hsp90aa1
|
UTSW |
12 |
110,662,115 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3277:Hsp90aa1
|
UTSW |
12 |
110,662,114 (GRCm39) |
start codon destroyed |
possibly damaging |
0.59 |
|
R3615:Hsp90aa1
|
UTSW |
12 |
110,662,115 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3615:Hsp90aa1
|
UTSW |
12 |
110,662,114 (GRCm39) |
start codon destroyed |
possibly damaging |
0.59 |
|
R3616:Hsp90aa1
|
UTSW |
12 |
110,662,115 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3616:Hsp90aa1
|
UTSW |
12 |
110,662,114 (GRCm39) |
start codon destroyed |
possibly damaging |
0.59 |
|
R4033:Hsp90aa1
|
UTSW |
12 |
110,662,114 (GRCm39) |
start codon destroyed |
possibly damaging |
0.59 |
|
R4033:Hsp90aa1
|
UTSW |
12 |
110,662,115 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4815:Hsp90aa1
|
UTSW |
12 |
110,661,660 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R4932:Hsp90aa1
|
UTSW |
12 |
110,660,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5117:Hsp90aa1
|
UTSW |
12 |
110,661,698 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5555:Hsp90aa1
|
UTSW |
12 |
110,659,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6382:Hsp90aa1
|
UTSW |
12 |
110,661,951 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7024:Hsp90aa1
|
UTSW |
12 |
110,660,546 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7324:Hsp90aa1
|
UTSW |
12 |
110,661,659 (GRCm39) |
missense |
unknown |
|
|
R7447:Hsp90aa1
|
UTSW |
12 |
110,658,562 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7526:Hsp90aa1
|
UTSW |
12 |
110,661,728 (GRCm39) |
missense |
unknown |
|
|
R7732:Hsp90aa1
|
UTSW |
12 |
110,659,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8155:Hsp90aa1
|
UTSW |
12 |
110,661,828 (GRCm39) |
missense |
unknown |
|
|
R9004:Hsp90aa1
|
UTSW |
12 |
110,659,045 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Hsp90aa1
|
UTSW |
12 |
110,659,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATTACGAAGCGCATGTGC -3'
(R):5'- TTAGACCACAGGGCTCACATG -3'
Sequencing Primer
(F):5'- CGCACGCCGTTCCTAAC -3'
(R):5'- TCACATGGAGGCTTCAGGC -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation