Incidental Mutation 'IGL00514:Hsf5'
ID |
4521 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Hsf5
|
Ensembl Gene |
ENSMUSG00000070345 |
Gene Name |
heat shock transcription factor family member 5 |
Synonyms |
LOC327992 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.203)
|
Stock # |
IGL00514
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
87507990-87550368 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 87513922 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 329
(Y329C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091488
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093956]
|
AlphaFold |
Q5ND04 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000093956
AA Change: Y329C
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000091488 Gene: ENSMUSG00000070345 AA Change: Y329C
Domain | Start | End | E-Value | Type |
HSF
|
11 |
153 |
2.35e-9 |
SMART |
Blast:HSF
|
163 |
423 |
1e-149 |
BLAST |
low complexity region
|
442 |
457 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933409G03Rik |
A |
G |
2: 68,432,141 (GRCm39) |
E75G |
unknown |
Het |
Ank3 |
T |
C |
10: 69,818,035 (GRCm39) |
|
probably benign |
Het |
Aplf |
A |
G |
6: 87,645,390 (GRCm39) |
|
probably benign |
Het |
Baz2b |
A |
T |
2: 59,792,821 (GRCm39) |
F436I |
probably benign |
Het |
Blmh |
A |
G |
11: 76,857,839 (GRCm39) |
D327G |
probably damaging |
Het |
Bmt2 |
A |
T |
6: 13,628,752 (GRCm39) |
H310Q |
probably damaging |
Het |
Cfap46 |
C |
T |
7: 139,240,605 (GRCm39) |
S56N |
probably damaging |
Het |
Col19a1 |
T |
C |
1: 24,576,013 (GRCm39) |
K110E |
unknown |
Het |
Cyp2c68 |
T |
C |
19: 39,700,939 (GRCm39) |
D293G |
probably damaging |
Het |
Ears2 |
T |
A |
7: 121,638,985 (GRCm39) |
K480* |
probably null |
Het |
Efhc1 |
C |
T |
1: 21,049,705 (GRCm39) |
Q522* |
probably null |
Het |
Ehd4 |
G |
A |
2: 119,921,694 (GRCm39) |
P521S |
probably damaging |
Het |
Endov |
G |
T |
11: 119,382,291 (GRCm39) |
|
probably benign |
Het |
Fgfr2 |
T |
G |
7: 129,769,441 (GRCm39) |
T648P |
probably benign |
Het |
Kntc1 |
T |
A |
5: 123,929,590 (GRCm39) |
S1308T |
probably benign |
Het |
Mill1 |
A |
T |
7: 17,998,566 (GRCm39) |
T259S |
possibly damaging |
Het |
Ms4a4c |
C |
T |
19: 11,396,400 (GRCm39) |
A111V |
probably damaging |
Het |
Myh1 |
G |
T |
11: 67,110,610 (GRCm39) |
R1507M |
probably damaging |
Het |
Nbeal1 |
G |
A |
1: 60,256,384 (GRCm39) |
D210N |
probably benign |
Het |
Neo1 |
G |
T |
9: 58,829,202 (GRCm39) |
|
probably benign |
Het |
Nipsnap2 |
A |
G |
5: 129,831,915 (GRCm39) |
D236G |
probably damaging |
Het |
Plekhh2 |
G |
T |
17: 84,903,734 (GRCm39) |
|
probably null |
Het |
Prox2 |
A |
T |
12: 85,141,552 (GRCm39) |
M217K |
probably benign |
Het |
Rgl2 |
G |
A |
17: 34,152,110 (GRCm39) |
G299E |
probably benign |
Het |
Rragb |
T |
G |
X: 151,954,294 (GRCm39) |
C370W |
possibly damaging |
Het |
Scn9a |
A |
T |
2: 66,393,945 (GRCm39) |
N209K |
probably damaging |
Het |
Sec61g |
A |
T |
11: 16,451,817 (GRCm39) |
|
probably benign |
Het |
Slc38a7 |
A |
G |
8: 96,567,105 (GRCm39) |
|
probably benign |
Het |
Smcr8 |
A |
T |
11: 60,669,193 (GRCm39) |
K114* |
probably null |
Het |
Stag3 |
T |
C |
5: 138,298,397 (GRCm39) |
L730P |
probably damaging |
Het |
Syn3 |
A |
G |
10: 86,190,280 (GRCm39) |
L183P |
probably damaging |
Het |
Tbk1 |
A |
T |
10: 121,388,155 (GRCm39) |
C637S |
probably benign |
Het |
Tmem30c |
A |
T |
16: 57,090,437 (GRCm39) |
Y257N |
probably damaging |
Het |
Trpm3 |
C |
T |
19: 22,965,023 (GRCm39) |
T1506M |
probably benign |
Het |
Yes1 |
A |
C |
5: 32,812,473 (GRCm39) |
K248Q |
probably benign |
Het |
Zfp638 |
A |
T |
6: 83,933,680 (GRCm39) |
K811N |
probably damaging |
Het |
|
Other mutations in Hsf5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01726:Hsf5
|
APN |
11 |
87,526,951 (GRCm39) |
missense |
probably benign |
0.22 |
IGL02480:Hsf5
|
APN |
11 |
87,522,483 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL02572:Hsf5
|
APN |
11 |
87,522,521 (GRCm39) |
splice site |
probably benign |
|
IGL03113:Hsf5
|
APN |
11 |
87,548,190 (GRCm39) |
missense |
probably benign |
0.03 |
R0015:Hsf5
|
UTSW |
11 |
87,548,161 (GRCm39) |
missense |
probably benign |
|
R0015:Hsf5
|
UTSW |
11 |
87,548,161 (GRCm39) |
missense |
probably benign |
|
R1381:Hsf5
|
UTSW |
11 |
87,528,995 (GRCm39) |
missense |
probably benign |
|
R1807:Hsf5
|
UTSW |
11 |
87,548,168 (GRCm39) |
missense |
probably benign |
0.04 |
R1838:Hsf5
|
UTSW |
11 |
87,526,881 (GRCm39) |
missense |
probably benign |
0.45 |
R2187:Hsf5
|
UTSW |
11 |
87,529,010 (GRCm39) |
missense |
possibly damaging |
0.51 |
R3930:Hsf5
|
UTSW |
11 |
87,522,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R3931:Hsf5
|
UTSW |
11 |
87,522,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R4420:Hsf5
|
UTSW |
11 |
87,548,130 (GRCm39) |
missense |
probably benign |
0.02 |
R4423:Hsf5
|
UTSW |
11 |
87,522,460 (GRCm39) |
missense |
probably damaging |
0.99 |
R4744:Hsf5
|
UTSW |
11 |
87,513,617 (GRCm39) |
missense |
probably benign |
0.02 |
R4795:Hsf5
|
UTSW |
11 |
87,526,446 (GRCm39) |
missense |
probably benign |
0.18 |
R5862:Hsf5
|
UTSW |
11 |
87,513,817 (GRCm39) |
missense |
probably damaging |
0.96 |
R6232:Hsf5
|
UTSW |
11 |
87,508,120 (GRCm39) |
missense |
probably benign |
0.05 |
R6234:Hsf5
|
UTSW |
11 |
87,508,120 (GRCm39) |
missense |
probably benign |
0.05 |
R6609:Hsf5
|
UTSW |
11 |
87,526,779 (GRCm39) |
missense |
probably damaging |
0.99 |
R7821:Hsf5
|
UTSW |
11 |
87,528,954 (GRCm39) |
missense |
probably benign |
0.04 |
R7989:Hsf5
|
UTSW |
11 |
87,526,450 (GRCm39) |
missense |
probably benign |
0.07 |
R9299:Hsf5
|
UTSW |
11 |
87,526,770 (GRCm39) |
missense |
probably benign |
|
R9419:Hsf5
|
UTSW |
11 |
87,528,935 (GRCm39) |
missense |
probably benign |
0.02 |
R9752:Hsf5
|
UTSW |
11 |
87,513,709 (GRCm39) |
missense |
probably benign |
0.22 |
Z1177:Hsf5
|
UTSW |
11 |
87,528,959 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2012-04-20 |