Incidental Mutation 'R1426:Hspa14'
| ID |
162238 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hspa14
|
| Ensembl Gene |
ENSMUSG00000109865 |
| Gene Name |
heat shock protein 14 |
| Synonyms |
HSP70L1, 70kDa, NST-1, Hsp70-4 |
| MMRRC Submission |
039482-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.201)
|
| Stock # |
R1426 (G1)
|
| Quality Score |
181 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
3489891-3513851 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 3509858 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 12
(W12R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120385
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027961]
[ENSMUST00000036350]
[ENSMUST00000124331]
[ENSMUST00000140494]
|
| AlphaFold |
Q99M31 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027961
|
| SMART Domains |
Protein: ENSMUSP00000027961
Gene: ENSMUSG00000109865
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSP70
|
3 |
509 |
6.3e-115 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036350
|
| SMART Domains |
Protein: ENSMUSP00000046297
Gene: ENSMUSG00000039496
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:Armet
|
36 |
181 |
2.6e-70 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056700
AA Change: W12R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000049753
Gene: ENSMUSG00000079615
AA Change: W12R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myb_DNA-bind_4
|
9 |
99 |
6.9e-20 |
PFAM |
|
low complexity region
|
262 |
278 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124331
AA Change: W12R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119850
Gene: ENSMUSG00000051396
AA Change: W12R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSP70
|
3 |
74 |
1e-22 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000140494
AA Change: W12R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120385
Gene: ENSMUSG00000051396
AA Change: W12R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSP70
|
3 |
88 |
1.1e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140610
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148167
|
| Meta Mutation Damage Score |
0.0862 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.3%
- 20x: 86.1%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
T |
17: 46,635,361 (GRCm39) |
V214E |
probably damaging |
Het |
| Adh1 |
A |
G |
3: 137,992,556 (GRCm39) |
D224G |
probably damaging |
Het |
| Arhgap28 |
C |
A |
17: 68,164,459 (GRCm39) |
Q554H |
probably damaging |
Het |
| Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
| Brat1 |
G |
A |
5: 140,703,768 (GRCm39) |
V674I |
probably benign |
Het |
| Brd2 |
ATCTTCTTC |
ATCTTC |
17: 34,332,981 (GRCm39) |
|
probably benign |
Het |
| Ccdc162 |
T |
C |
10: 41,429,178 (GRCm39) |
D438G |
possibly damaging |
Het |
| Cyp4x1 |
T |
A |
4: 114,969,988 (GRCm39) |
|
probably benign |
Het |
| Dip2a |
T |
C |
10: 76,115,654 (GRCm39) |
|
probably benign |
Het |
| Eif2s1 |
A |
G |
12: 78,927,942 (GRCm39) |
D206G |
probably benign |
Het |
| Elovl7 |
T |
A |
13: 108,419,028 (GRCm39) |
I220N |
possibly damaging |
Het |
| Gsto1 |
A |
G |
19: 47,846,381 (GRCm39) |
E76G |
probably damaging |
Het |
| L3mbtl2 |
T |
A |
15: 81,560,518 (GRCm39) |
C260S |
possibly damaging |
Het |
| Lama3 |
G |
T |
18: 12,614,155 (GRCm39) |
|
probably null |
Het |
| Lrrc34 |
T |
A |
3: 30,697,728 (GRCm39) |
|
probably benign |
Het |
| Lrrc45 |
A |
T |
11: 120,610,839 (GRCm39) |
Q525L |
probably benign |
Het |
| Lss |
T |
C |
10: 76,372,137 (GRCm39) |
I164T |
probably damaging |
Het |
| Myh11 |
T |
A |
16: 14,023,795 (GRCm39) |
K1527* |
probably null |
Het |
| Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Ncoa1 |
T |
A |
12: 4,320,737 (GRCm39) |
|
probably benign |
Het |
| Or5an1c |
G |
T |
19: 12,218,546 (GRCm39) |
Q160K |
possibly damaging |
Het |
| Or6c38 |
A |
T |
10: 128,929,559 (GRCm39) |
C95S |
probably damaging |
Het |
| Pafah1b3 |
T |
C |
7: 24,996,560 (GRCm39) |
E41G |
possibly damaging |
Het |
| Pnma8a |
C |
T |
7: 16,694,909 (GRCm39) |
P255S |
possibly damaging |
Het |
| Prkar2b |
A |
T |
12: 32,012,987 (GRCm39) |
|
probably benign |
Het |
| Rbck1 |
A |
T |
2: 152,169,161 (GRCm39) |
|
probably benign |
Het |
| Rcor2 |
A |
G |
19: 7,248,395 (GRCm39) |
S137G |
possibly damaging |
Het |
| Slc25a48 |
T |
A |
13: 56,596,804 (GRCm39) |
|
probably benign |
Het |
| Slc7a4 |
A |
G |
16: 17,391,808 (GRCm39) |
|
probably null |
Het |
| Tert |
T |
C |
13: 73,790,472 (GRCm39) |
|
probably benign |
Het |
| Traf7 |
A |
T |
17: 24,730,655 (GRCm39) |
I344N |
probably damaging |
Het |
| Vmn1r194 |
T |
A |
13: 22,429,236 (GRCm39) |
F284L |
probably damaging |
Het |
| Xpc |
A |
G |
6: 91,470,220 (GRCm39) |
M699T |
probably damaging |
Het |
| Zbtb5 |
T |
C |
4: 44,993,968 (GRCm39) |
H472R |
possibly damaging |
Het |
| Zfp786 |
A |
G |
6: 47,802,013 (GRCm39) |
V88A |
probably benign |
Het |
| Zkscan7 |
T |
C |
9: 122,724,228 (GRCm39) |
I399T |
probably benign |
Het |
| Zyg11b |
G |
A |
4: 108,108,009 (GRCm39) |
R466C |
probably damaging |
Het |
|
| Other mutations in Hspa14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00857:Hspa14
|
APN |
2 |
3,503,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02293:Hspa14
|
APN |
2 |
3,512,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02477:Hspa14
|
APN |
2 |
3,497,661 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02711:Hspa14
|
APN |
2 |
3,503,557 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0522:Hspa14
|
UTSW |
2 |
3,512,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1169:Hspa14
|
UTSW |
2 |
3,499,161 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1471:Hspa14
|
UTSW |
2 |
3,492,645 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1846:Hspa14
|
UTSW |
2 |
3,492,697 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1971:Hspa14
|
UTSW |
2 |
3,490,804 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R2353:Hspa14
|
UTSW |
2 |
3,512,213 (GRCm39) |
splice site |
probably null |
|
|
R3508:Hspa14
|
UTSW |
2 |
3,492,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3859:Hspa14
|
UTSW |
2 |
3,495,616 (GRCm39) |
nonsense |
probably null |
|
|
R4012:Hspa14
|
UTSW |
2 |
3,513,675 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4360:Hspa14
|
UTSW |
2 |
3,503,560 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4938:Hspa14
|
UTSW |
2 |
3,492,646 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5028:Hspa14
|
UTSW |
2 |
3,499,206 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5326:Hspa14
|
UTSW |
2 |
3,503,560 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5542:Hspa14
|
UTSW |
2 |
3,503,560 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5881:Hspa14
|
UTSW |
2 |
3,499,207 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6046:Hspa14
|
UTSW |
2 |
3,490,801 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6076:Hspa14
|
UTSW |
2 |
3,512,109 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6112:Hspa14
|
UTSW |
2 |
3,499,105 (GRCm39) |
missense |
probably benign |
|
|
R6334:Hspa14
|
UTSW |
2 |
3,490,109 (GRCm39) |
splice site |
probably null |
|
|
R7297:Hspa14
|
UTSW |
2 |
3,499,179 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7424:Hspa14
|
UTSW |
2 |
3,490,078 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7510:Hspa14
|
UTSW |
2 |
3,499,159 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7692:Hspa14
|
UTSW |
2 |
3,497,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8394:Hspa14
|
UTSW |
2 |
3,513,670 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9780:Hspa14
|
UTSW |
2 |
3,490,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAACTTTAAACTTGGAGCGGCAC -3'
(R):5'- CGGATGAACTCCCAAAGTCTTGACC -3'
Sequencing Primer
(F):5'- TGCATTGTGATGCCTAGTCTGG -3'
(R):5'- ATATGCTGCGGAATCTGCAC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation