Incidental Mutation 'IGL00857:Hspa14'
| ID |
11370 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hspa14
|
| Ensembl Gene |
ENSMUSG00000109865 |
| Gene Name |
heat shock protein 14 |
| Synonyms |
HSP70L1, 70kDa, NST-1, Hsp70-4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
IGL00857
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
3489891-3513851 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3503796 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 83
(Y83C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027961
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027961]
[ENSMUST00000124331]
[ENSMUST00000140494]
|
| AlphaFold |
Q99M31 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027961
AA Change: Y83C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027961
Gene: ENSMUSG00000109865
AA Change: Y83C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSP70
|
3 |
509 |
6.3e-115 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124331
|
| SMART Domains |
Protein: ENSMUSP00000119850
Gene: ENSMUSG00000051396
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSP70
|
3 |
74 |
1e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135157
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139485
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140494
|
| SMART Domains |
Protein: ENSMUSP00000120385
Gene: ENSMUSG00000051396
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSP70
|
3 |
88 |
1.1e-22 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acr |
A |
G |
15: 89,454,205 (GRCm39) |
T181A |
probably benign |
Het |
| Anks3 |
T |
A |
16: 4,771,793 (GRCm39) |
H77L |
possibly damaging |
Het |
| Cacna1d |
A |
T |
14: 30,072,638 (GRCm39) |
N112K |
possibly damaging |
Het |
| Cd164 |
A |
G |
10: 41,404,691 (GRCm39) |
T150A |
probably benign |
Het |
| Cfap57 |
C |
T |
4: 118,470,120 (GRCm39) |
|
probably null |
Het |
| Cntnap2 |
C |
A |
6: 47,026,358 (GRCm39) |
N61K |
probably benign |
Het |
| Cstdc1 |
A |
G |
2: 148,624,170 (GRCm39) |
D48G |
possibly damaging |
Het |
| Cyp4f39 |
A |
G |
17: 32,708,631 (GRCm39) |
I393V |
probably benign |
Het |
| Dcaf11 |
A |
T |
14: 55,798,742 (GRCm39) |
|
probably benign |
Het |
| Defb7 |
G |
A |
8: 19,547,594 (GRCm39) |
R33Q |
possibly damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,283,604 (GRCm39) |
Y2743C |
probably benign |
Het |
| Enpp2 |
A |
G |
15: 54,739,046 (GRCm39) |
|
probably null |
Het |
| Fam135b |
T |
A |
15: 71,335,465 (GRCm39) |
E576D |
probably benign |
Het |
| Gfpt1 |
T |
A |
6: 87,033,145 (GRCm39) |
N123K |
probably damaging |
Het |
| Hnmt |
T |
C |
2: 23,893,795 (GRCm39) |
D233G |
probably benign |
Het |
| Hsd3b2 |
T |
A |
3: 98,618,859 (GRCm39) |
E362V |
possibly damaging |
Het |
| Hsdl2 |
T |
A |
4: 59,617,735 (GRCm39) |
N487K |
probably benign |
Het |
| Itm2b |
T |
C |
14: 73,602,056 (GRCm39) |
N214S |
probably benign |
Het |
| Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
| Myocd |
A |
T |
11: 65,069,662 (GRCm39) |
V726D |
possibly damaging |
Het |
| Ncapg |
T |
A |
5: 45,833,927 (GRCm39) |
|
probably null |
Het |
| Nrdc |
A |
T |
4: 108,911,199 (GRCm39) |
I774F |
probably damaging |
Het |
| Pot1a |
T |
C |
6: 25,744,627 (GRCm39) |
I626V |
probably benign |
Het |
| Prkab2 |
C |
T |
3: 97,569,659 (GRCm39) |
A75V |
possibly damaging |
Het |
| Sdr9c7 |
A |
G |
10: 127,734,728 (GRCm39) |
Q72R |
probably benign |
Het |
| Slc16a7 |
A |
C |
10: 125,066,803 (GRCm39) |
Y279D |
probably benign |
Het |
| Slc8a1 |
T |
A |
17: 81,955,308 (GRCm39) |
T577S |
probably benign |
Het |
| Slitrk3 |
G |
A |
3: 72,957,174 (GRCm39) |
L533F |
probably damaging |
Het |
| Tent5a |
C |
A |
9: 85,206,806 (GRCm39) |
V331L |
possibly damaging |
Het |
| Tmeff1 |
T |
C |
4: 48,610,435 (GRCm39) |
V102A |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,583,099 (GRCm39) |
T22598I |
probably damaging |
Het |
| Ube4a |
C |
A |
9: 44,843,684 (GRCm39) |
G977W |
probably damaging |
Het |
|
| Other mutations in Hspa14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R1426:Hspa14
|
UTSW |
2 |
3,509,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation