Incidental Mutation 'R5065:Hsfy2'
| ID |
388279 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hsfy2
|
| Ensembl Gene |
ENSMUSG00000045336 |
| Gene Name |
heat shock transcription factor, Y-linked 2 |
| Synonyms |
4933413G11Rik |
| MMRRC Submission |
042655-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R5065 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
56675203-56676594 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 56675626 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 304
(Q304*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049715
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062085]
|
| AlphaFold |
Q80Y37 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000062085
AA Change: Q304*
|
| SMART Domains |
Protein: ENSMUSP00000049715
Gene: ENSMUSG00000045336
AA Change: Q304*
| Domain | Start | End | E-Value | Type |
|---|
|
HSF
|
76 |
194 |
6.55e-8 |
SMART |
|
low complexity region
|
241 |
246 |
N/A |
INTRINSIC |
|
low complexity region
|
343 |
362 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310009B15Rik |
T |
A |
1: 138,779,893 (GRCm39) |
N120Y |
probably damaging |
Het |
| A930011G23Rik |
G |
A |
5: 99,382,432 (GRCm39) |
T272M |
probably benign |
Het |
| Aldh9a1 |
A |
G |
1: 167,180,128 (GRCm39) |
E74G |
probably damaging |
Het |
| Asxl3 |
C |
G |
18: 22,658,356 (GRCm39) |
A2122G |
possibly damaging |
Het |
| Bcl2l10 |
A |
T |
9: 75,255,261 (GRCm39) |
E26V |
possibly damaging |
Het |
| Cspg4b |
T |
A |
13: 113,457,453 (GRCm39) |
H1166Q |
probably benign |
Het |
| Dennd2a |
C |
A |
6: 39,472,110 (GRCm39) |
|
probably null |
Het |
| Dock3 |
A |
G |
9: 106,832,883 (GRCm39) |
F129L |
probably damaging |
Het |
| Gm4847 |
A |
T |
1: 166,462,359 (GRCm39) |
I377N |
probably damaging |
Het |
| Gm8674 |
T |
C |
13: 50,056,613 (GRCm39) |
|
noncoding transcript |
Het |
| Hhipl2 |
A |
T |
1: 183,207,580 (GRCm39) |
H433L |
probably benign |
Het |
| Ighg2c |
T |
C |
12: 113,251,708 (GRCm39) |
I140V |
unknown |
Het |
| Kmt2a |
T |
C |
9: 44,753,997 (GRCm39) |
|
probably benign |
Het |
| Map3k5 |
A |
G |
10: 19,958,213 (GRCm39) |
E671G |
probably damaging |
Het |
| Map6 |
A |
G |
7: 98,985,917 (GRCm39) |
D607G |
probably benign |
Het |
| Mroh4 |
C |
T |
15: 74,500,119 (GRCm39) |
|
probably null |
Het |
| Or10g6 |
A |
G |
9: 39,934,546 (GRCm39) |
I286V |
probably benign |
Het |
| Pcsk6 |
A |
G |
7: 65,560,047 (GRCm39) |
D124G |
possibly damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,445,689 (GRCm39) |
N3790K |
possibly damaging |
Het |
| Polr3b |
C |
A |
10: 84,468,402 (GRCm39) |
N129K |
probably benign |
Het |
| Ptpn23 |
A |
T |
9: 110,227,256 (GRCm39) |
L31Q |
possibly damaging |
Het |
| Sema3c |
A |
G |
5: 17,932,615 (GRCm39) |
N706S |
possibly damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,218,324 (GRCm39) |
I338V |
probably benign |
Het |
| Slc39a7 |
A |
G |
17: 34,250,033 (GRCm39) |
|
probably benign |
Het |
| Snd1 |
C |
A |
6: 28,888,239 (GRCm39) |
N891K |
probably damaging |
Het |
| Sntg1 |
A |
G |
1: 8,433,663 (GRCm39) |
|
probably benign |
Het |
| Stxbp5 |
A |
T |
10: 9,646,295 (GRCm39) |
L780Q |
probably damaging |
Het |
| Tacr1 |
G |
A |
6: 82,531,859 (GRCm39) |
V252M |
possibly damaging |
Het |
| Tdrp |
T |
C |
8: 14,003,791 (GRCm39) |
E182G |
probably damaging |
Het |
| Vmn1r58 |
A |
G |
7: 5,413,834 (GRCm39) |
I132T |
probably benign |
Het |
| Wap |
A |
T |
11: 6,586,840 (GRCm39) |
N86K |
probably damaging |
Het |
|
| Other mutations in Hsfy2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1618:Hsfy2
|
UTSW |
1 |
56,676,388 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1670:Hsfy2
|
UTSW |
1 |
56,675,548 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1687:Hsfy2
|
UTSW |
1 |
56,676,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1843:Hsfy2
|
UTSW |
1 |
56,675,791 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1954:Hsfy2
|
UTSW |
1 |
56,676,342 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2031:Hsfy2
|
UTSW |
1 |
56,675,476 (GRCm39) |
missense |
probably benign |
0.18 |
|
R3117:Hsfy2
|
UTSW |
1 |
56,676,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3778:Hsfy2
|
UTSW |
1 |
56,675,847 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4760:Hsfy2
|
UTSW |
1 |
56,676,349 (GRCm39) |
missense |
probably benign |
|
|
R5192:Hsfy2
|
UTSW |
1 |
56,675,894 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5378:Hsfy2
|
UTSW |
1 |
56,675,827 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6296:Hsfy2
|
UTSW |
1 |
56,676,351 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6474:Hsfy2
|
UTSW |
1 |
56,676,150 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6813:Hsfy2
|
UTSW |
1 |
56,675,461 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6996:Hsfy2
|
UTSW |
1 |
56,675,569 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7486:Hsfy2
|
UTSW |
1 |
56,676,130 (GRCm39) |
nonsense |
probably null |
|
|
R7609:Hsfy2
|
UTSW |
1 |
56,676,310 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7819:Hsfy2
|
UTSW |
1 |
56,675,418 (GRCm39) |
missense |
probably benign |
|
|
R8208:Hsfy2
|
UTSW |
1 |
56,676,310 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9058:Hsfy2
|
UTSW |
1 |
56,676,504 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9129:Hsfy2
|
UTSW |
1 |
56,675,752 (GRCm39) |
missense |
probably benign |
0.41 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAACTCAGGTTCGCCCTTTG -3'
(R):5'- GTGAGAGAAACTTGTTGTCCAGC -3'
Sequencing Primer
(F):5'- GCCCTTTGCTTTTGAGTCAGAATAAG -3'
(R):5'- GAGAGAAACTTGTTGTCCAGCTCTAG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation