Incidental Mutation 'IGL02477:Hspa14'
| ID |
295015 |
| 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 # |
IGL02477
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
3489891-3513851 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 3497661 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 277
(S277N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027961
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027961]
|
| AlphaFold |
Q99M31 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027961
AA Change: S277N
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000027961
Gene: ENSMUSG00000109865
AA Change: S277N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSP70
|
3 |
509 |
6.3e-115 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135157
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139485
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156008
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
T |
A |
4: 103,127,943 (GRCm39) |
I61F |
probably benign |
Het |
| Abr |
T |
C |
11: 76,352,186 (GRCm39) |
K280E |
probably damaging |
Het |
| Acaca |
T |
C |
11: 84,197,994 (GRCm39) |
|
probably benign |
Het |
| Cep131 |
C |
T |
11: 119,961,406 (GRCm39) |
V582I |
probably damaging |
Het |
| Colec12 |
A |
G |
18: 9,859,858 (GRCm39) |
N613D |
unknown |
Het |
| Cyp4f39 |
A |
G |
17: 32,708,619 (GRCm39) |
T389A |
probably benign |
Het |
| D630003M21Rik |
T |
C |
2: 158,059,408 (GRCm39) |
N164S |
probably benign |
Het |
| Eef1akmt2 |
A |
T |
7: 132,452,318 (GRCm39) |
|
probably null |
Het |
| Elp3 |
T |
C |
14: 65,800,760 (GRCm39) |
T283A |
probably benign |
Het |
| Fads3 |
C |
A |
19: 10,033,806 (GRCm39) |
P397Q |
probably damaging |
Het |
| Fam171a1 |
T |
C |
2: 3,203,612 (GRCm39) |
V198A |
possibly damaging |
Het |
| Fam171a2 |
T |
C |
11: 102,330,854 (GRCm39) |
I208M |
probably benign |
Het |
| Fbxw17 |
G |
A |
13: 50,577,853 (GRCm39) |
V119M |
possibly damaging |
Het |
| Gtf2ird1 |
G |
A |
5: 134,408,832 (GRCm39) |
T140M |
probably damaging |
Het |
| Hspg2 |
C |
T |
4: 137,271,823 (GRCm39) |
|
probably benign |
Het |
| Ing2 |
G |
T |
8: 48,122,303 (GRCm39) |
R82S |
possibly damaging |
Het |
| Kat6a |
A |
G |
8: 23,419,316 (GRCm39) |
Y693C |
probably damaging |
Het |
| Kcna7 |
A |
G |
7: 45,059,047 (GRCm39) |
M445V |
probably benign |
Het |
| Lifr |
T |
G |
15: 7,216,404 (GRCm39) |
I793S |
probably damaging |
Het |
| Lrrd1 |
T |
A |
5: 3,915,770 (GRCm39) |
M789K |
probably benign |
Het |
| Myom3 |
T |
A |
4: 135,506,679 (GRCm39) |
L484Q |
probably benign |
Het |
| Nav2 |
T |
A |
7: 49,232,623 (GRCm39) |
M1860K |
probably damaging |
Het |
| Nipbl |
C |
T |
15: 8,353,131 (GRCm39) |
|
probably null |
Het |
| Nsun7 |
T |
A |
5: 66,433,992 (GRCm39) |
I214K |
probably damaging |
Het |
| Or5k17 |
T |
C |
16: 58,746,126 (GRCm39) |
I269M |
probably benign |
Het |
| Or8c20 |
C |
T |
9: 38,260,421 (GRCm39) |
S8L |
probably benign |
Het |
| Osm |
T |
A |
11: 4,189,604 (GRCm39) |
N129K |
probably damaging |
Het |
| Plce1 |
C |
T |
19: 38,707,997 (GRCm39) |
|
probably benign |
Het |
| Plch1 |
A |
G |
3: 63,660,714 (GRCm39) |
F302L |
probably damaging |
Het |
| Pld2 |
T |
C |
11: 70,431,751 (GRCm39) |
V27A |
possibly damaging |
Het |
| Prex2 |
A |
G |
1: 11,274,378 (GRCm39) |
D1350G |
probably benign |
Het |
| Psme4 |
T |
A |
11: 30,792,083 (GRCm39) |
V1190D |
probably damaging |
Het |
| Sema3g |
G |
T |
14: 30,949,823 (GRCm39) |
R668L |
probably damaging |
Het |
| Sprr2f |
T |
A |
3: 92,273,204 (GRCm39) |
M1K |
probably null |
Het |
| Sult6b2 |
G |
A |
6: 142,747,447 (GRCm39) |
P101S |
probably damaging |
Het |
| Trem3 |
G |
A |
17: 48,556,864 (GRCm39) |
V112I |
probably benign |
Het |
| Ttll9 |
T |
A |
2: 152,842,117 (GRCm39) |
F324I |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,557,104 (GRCm39) |
D29967V |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,163,516 (GRCm39) |
K2639E |
probably damaging |
Het |
| Vwce |
T |
C |
19: 10,641,982 (GRCm39) |
|
probably null |
Het |
| Zbtb14 |
T |
A |
17: 69,694,690 (GRCm39) |
D129E |
probably benign |
Het |
| Zmym6 |
C |
T |
4: 126,972,295 (GRCm39) |
Q16* |
probably null |
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 |
|
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 |
2015-04-16 |
Incidental Mutation