Incidental Mutation 'R3931:Hsf5'
| ID |
308474 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hsf5
|
| Ensembl Gene |
ENSMUSG00000070345 |
| Gene Name |
heat shock transcription factor family member 5 |
| Synonyms |
LOC327992 |
| MMRRC Submission |
040918-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.208)
|
| Stock # |
R3931 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
87507990-87550368 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87522508 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 367
(Y367C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091488
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093956]
|
| AlphaFold |
Q5ND04 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093956
AA Change: Y367C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000091488
Gene: ENSMUSG00000070345
AA Change: Y367C
| 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 |
|
| Meta Mutation Damage Score |
0.1343 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.8%
|
| Validation Efficiency |
100% (30/30) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730049H05Rik |
A |
C |
6: 92,811,420 (GRCm39) |
|
probably benign |
Het |
| Cbarp |
A |
G |
10: 79,971,348 (GRCm39) |
L159P |
probably damaging |
Het |
| Ccnd2 |
A |
G |
6: 127,107,422 (GRCm39) |
I249T |
probably damaging |
Het |
| Cerk |
G |
T |
15: 86,039,311 (GRCm39) |
C193* |
probably null |
Het |
| Chrna2 |
A |
G |
14: 66,387,216 (GRCm39) |
E454G |
probably benign |
Het |
| Clnk |
T |
C |
5: 38,925,412 (GRCm39) |
T130A |
probably benign |
Het |
| Dcbld2 |
T |
C |
16: 58,285,701 (GRCm39) |
L620P |
probably damaging |
Het |
| Dhx29 |
T |
A |
13: 113,095,499 (GRCm39) |
V942E |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 117,971,675 (GRCm39) |
|
probably benign |
Het |
| Dnai1 |
G |
A |
4: 41,604,229 (GRCm39) |
C212Y |
probably damaging |
Het |
| Dpep1 |
A |
G |
8: 123,925,518 (GRCm39) |
D57G |
possibly damaging |
Het |
| Gfm2 |
G |
A |
13: 97,311,532 (GRCm39) |
V701I |
probably benign |
Het |
| Grm1 |
C |
T |
10: 10,595,622 (GRCm39) |
A669T |
probably benign |
Het |
| Hsd3b3 |
C |
T |
3: 98,649,492 (GRCm39) |
G277D |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lipo4 |
C |
T |
19: 33,480,619 (GRCm39) |
V250I |
probably benign |
Het |
| Lrrc14 |
T |
C |
15: 76,597,765 (GRCm39) |
V165A |
probably benign |
Het |
| Map3k9 |
A |
G |
12: 81,819,691 (GRCm39) |
F188L |
probably damaging |
Het |
| Mpo |
A |
G |
11: 87,691,866 (GRCm39) |
Y433C |
probably damaging |
Het |
| Nsd2 |
A |
G |
5: 34,003,461 (GRCm39) |
K185E |
probably benign |
Het |
| Or6n2 |
T |
A |
1: 173,897,147 (GRCm39) |
F94L |
probably damaging |
Het |
| Oxct1 |
T |
A |
15: 4,066,601 (GRCm39) |
N72K |
possibly damaging |
Het |
| Ptpn12 |
A |
G |
5: 21,206,321 (GRCm39) |
I324T |
probably benign |
Het |
| Sez6 |
T |
C |
11: 77,867,708 (GRCm39) |
I875T |
probably damaging |
Het |
| Tpr |
T |
A |
1: 150,311,655 (GRCm39) |
V1811E |
probably damaging |
Het |
| Trpc4 |
A |
G |
3: 54,225,516 (GRCm39) |
D871G |
probably damaging |
Het |
| Upf2 |
A |
G |
2: 6,051,821 (GRCm39) |
E1161G |
unknown |
Het |
| Zp2 |
T |
C |
7: 119,731,580 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Hsf5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00514:Hsf5
|
APN |
11 |
87,513,922 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCAGAGTTTTCTAAAAGCAATTG -3'
(R):5'- GATCATGGCAGCCAGACTAATAC -3'
Sequencing Primer
(F):5'- TTGAAAGCACCCAAATGTGTGC -3'
(R):5'- TGGCAGCCAGACTAATACTCTAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation