Incidental Mutation 'R4360:Hspa14'
ID |
324841 |
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 |
041111-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.147)
|
Stock # |
R4360 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
3489891-3513851 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 3503560 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 116
(V116A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027961
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027961]
[ENSMUST00000124331]
[ENSMUST00000140494]
|
AlphaFold |
Q99M31 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027961
AA Change: V116A
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000027961 Gene: ENSMUSG00000109865 AA Change: V116A
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 |
|
Meta Mutation Damage Score |
0.4332 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
100% (50/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930578I07Rik |
T |
C |
14: 67,175,850 (GRCm39) |
|
noncoding transcript |
Het |
Adgra3 |
T |
C |
5: 50,147,552 (GRCm39) |
E496G |
possibly damaging |
Het |
Atg14 |
C |
G |
14: 47,805,827 (GRCm39) |
E13Q |
probably benign |
Het |
BC023105 |
G |
T |
18: 60,575,073 (GRCm39) |
|
noncoding transcript |
Het |
Chd6 |
A |
G |
2: 160,791,776 (GRCm39) |
V2527A |
possibly damaging |
Het |
Csn1s2a |
G |
T |
5: 87,929,700 (GRCm39) |
V100L |
possibly damaging |
Het |
Fah |
G |
A |
7: 84,238,856 (GRCm39) |
L330F |
probably damaging |
Het |
Fmo2 |
T |
C |
1: 162,709,583 (GRCm39) |
N268S |
probably damaging |
Het |
Foxg1 |
CCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGC |
12: 49,431,475 (GRCm39) |
|
probably benign |
Het |
Frmd4a |
A |
T |
2: 4,606,052 (GRCm39) |
H287L |
probably damaging |
Het |
G2e3 |
T |
A |
12: 51,410,197 (GRCm39) |
|
probably benign |
Het |
Gm1758 |
A |
T |
16: 14,324,215 (GRCm39) |
|
noncoding transcript |
Het |
Gm7204 |
T |
C |
16: 48,039,196 (GRCm39) |
|
noncoding transcript |
Het |
Gm829 |
T |
C |
4: 45,718,819 (GRCm39) |
|
noncoding transcript |
Het |
Hspa4 |
T |
C |
11: 53,155,919 (GRCm39) |
Y662C |
probably damaging |
Het |
Islr |
T |
A |
9: 58,064,887 (GRCm39) |
N207Y |
probably damaging |
Het |
Lipc |
T |
C |
9: 70,759,864 (GRCm39) |
|
probably benign |
Het |
Ncor2 |
A |
G |
5: 125,106,036 (GRCm39) |
S1546P |
probably damaging |
Het |
Or13a25 |
T |
C |
7: 140,247,730 (GRCm39) |
F170L |
probably damaging |
Het |
Or56a3 |
A |
C |
7: 104,735,460 (GRCm39) |
E179A |
probably damaging |
Het |
Or7g18 |
G |
A |
9: 18,787,013 (GRCm39) |
C127Y |
probably damaging |
Het |
Parp4 |
A |
G |
14: 56,866,661 (GRCm39) |
D1075G |
possibly damaging |
Het |
Pkp2 |
A |
G |
16: 16,086,546 (GRCm39) |
I736V |
probably benign |
Het |
Plekha8 |
T |
C |
6: 54,599,171 (GRCm39) |
I235T |
probably benign |
Het |
Polq |
A |
G |
16: 36,880,701 (GRCm39) |
D955G |
probably benign |
Het |
Pramel16 |
A |
G |
4: 143,677,433 (GRCm39) |
F49L |
possibly damaging |
Het |
Psmd1 |
A |
G |
1: 86,061,459 (GRCm39) |
K890E |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Scpep1 |
A |
G |
11: 88,821,070 (GRCm39) |
Y366H |
possibly damaging |
Het |
Slc18a3 |
A |
G |
14: 32,185,882 (GRCm39) |
V167A |
probably benign |
Het |
Sp8 |
A |
G |
12: 118,812,400 (GRCm39) |
D85G |
possibly damaging |
Het |
Stard3nl |
G |
A |
13: 19,554,654 (GRCm39) |
S144L |
probably damaging |
Het |
Stk4 |
A |
G |
2: 163,930,879 (GRCm39) |
E160G |
possibly damaging |
Het |
Tbcb |
T |
C |
7: 29,926,460 (GRCm39) |
N119S |
probably benign |
Het |
Tnc |
G |
T |
4: 63,935,161 (GRCm39) |
R592S |
probably benign |
Het |
Trem3 |
T |
A |
17: 48,556,801 (GRCm39) |
S91T |
probably benign |
Het |
Trpc6 |
A |
G |
9: 8,610,267 (GRCm39) |
E245G |
probably benign |
Het |
Usp40 |
C |
T |
1: 87,880,083 (GRCm39) |
R1036H |
probably damaging |
Het |
Usp47 |
G |
T |
7: 111,654,139 (GRCm39) |
G112C |
probably damaging |
Het |
Wdr35 |
T |
C |
12: 9,024,149 (GRCm39) |
|
probably benign |
Het |
Zc3h14 |
A |
G |
12: 98,746,456 (GRCm39) |
K555R |
probably benign |
Het |
Zfp26 |
T |
C |
9: 20,349,869 (GRCm39) |
S232G |
probably benign |
Het |
Zfp811 |
T |
C |
17: 33,017,432 (GRCm39) |
T202A |
probably benign |
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 |
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 |
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'- GCTGTCCCCACTCTTTTAAGGG -3'
(R):5'- TGCAGATCCACAAGCTCAG -3'
Sequencing Primer
(F):5'- AAGGACATGCACTGGTTTCC -3'
(R):5'- GCTTAGTAAGTATGGTTCCTTTACTC -3'
|
Posted On |
2015-07-06 |