Incidental Mutation 'R2353:Hspa14'
| ID |
246242 |
| 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 |
040335-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
R2353 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
3489891-3513851 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 3512213 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120385
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027961]
[ENSMUST00000027961]
[ENSMUST00000036350]
[ENSMUST00000124331]
[ENSMUST00000124331]
[ENSMUST00000140494]
[ENSMUST00000140494]
|
| AlphaFold |
Q99M31 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027961
AA Change: Q46*
|
| SMART Domains |
Protein: ENSMUSP00000027961
Gene: ENSMUSG00000109865
AA Change: Q46*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSP70
|
3 |
509 |
6.3e-115 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000027961
AA Change: Q46*
|
| SMART Domains |
Protein: ENSMUSP00000027961
Gene: ENSMUSG00000109865
AA Change: Q46*
| 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 null
Transcript: ENSMUST00000124331
|
| SMART Domains |
Protein: ENSMUSP00000119850
Gene: ENSMUSG00000051396
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSP70
|
3 |
74 |
1e-22 |
PFAM |
|
| Predicted Effect |
probably null
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: ENSMUST00000132566
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000140494
|
| SMART Domains |
Protein: ENSMUSP00000120385
Gene: ENSMUSG00000051396
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSP70
|
3 |
88 |
1.1e-22 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000140494
|
| SMART Domains |
Protein: ENSMUSP00000120385
Gene: ENSMUSG00000051396
| 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 |
0.4766 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
G |
T |
4: 144,349,779 (GRCm39) |
E345D |
probably damaging |
Het |
| Adam7 |
T |
A |
14: 68,742,537 (GRCm39) |
Q692L |
probably benign |
Het |
| Ankk1 |
A |
C |
9: 49,329,990 (GRCm39) |
C322G |
probably benign |
Het |
| Ap3b2 |
C |
T |
7: 81,123,598 (GRCm39) |
|
probably benign |
Het |
| Apeh |
T |
C |
9: 107,963,491 (GRCm39) |
D577G |
possibly damaging |
Het |
| Aspm |
T |
A |
1: 139,405,435 (GRCm39) |
W1441R |
probably damaging |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Cd163 |
G |
T |
6: 124,296,115 (GRCm39) |
E820* |
probably null |
Het |
| Cd38 |
T |
A |
5: 44,065,353 (GRCm39) |
|
probably null |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Enpp1 |
C |
A |
10: 24,527,239 (GRCm39) |
Q649H |
probably benign |
Het |
| Garnl3 |
T |
A |
2: 32,954,046 (GRCm39) |
R86S |
probably damaging |
Het |
| Gbe1 |
A |
G |
16: 70,233,909 (GRCm39) |
|
probably null |
Het |
| Gm5117 |
A |
G |
8: 32,229,223 (GRCm39) |
|
noncoding transcript |
Het |
| Hip1 |
A |
T |
5: 135,441,566 (GRCm39) |
V568E |
probably damaging |
Het |
| Lrrc4 |
A |
G |
6: 28,831,451 (GRCm39) |
F55L |
probably benign |
Het |
| Med31 |
T |
A |
11: 72,104,966 (GRCm39) |
N35I |
probably damaging |
Het |
| Msi1 |
C |
A |
5: 115,574,568 (GRCm39) |
|
probably benign |
Het |
| Or1e34 |
T |
C |
11: 73,778,660 (GRCm39) |
I179M |
probably benign |
Het |
| Or4b1 |
A |
T |
2: 89,980,062 (GRCm39) |
L96Q |
probably damaging |
Het |
| Parl |
T |
C |
16: 20,105,790 (GRCm39) |
T211A |
probably benign |
Het |
| Ppwd1 |
T |
C |
13: 104,350,090 (GRCm39) |
I432V |
probably benign |
Het |
| Scn10a |
T |
A |
9: 119,467,753 (GRCm39) |
I796F |
probably damaging |
Het |
| Semp2l2a |
T |
A |
8: 13,886,951 (GRCm39) |
E380V |
probably damaging |
Het |
| Sh3rf3 |
A |
G |
10: 58,842,895 (GRCm39) |
D287G |
probably damaging |
Het |
| Sin3b |
T |
C |
8: 73,450,780 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
T |
C |
4: 139,160,984 (GRCm39) |
I2493T |
possibly damaging |
Het |
| Uts2 |
T |
A |
4: 151,084,593 (GRCm39) |
|
probably null |
Het |
| Zfp109 |
T |
C |
7: 23,928,806 (GRCm39) |
D201G |
probably benign |
Het |
| Zfp407 |
A |
G |
18: 84,578,005 (GRCm39) |
F1036S |
probably damaging |
Het |
| Znrf3 |
T |
C |
11: 5,231,170 (GRCm39) |
E685G |
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 |
|
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 |
|
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'- TTATGCCATACCTTCTGCCAAG -3'
(R):5'- GACTTTAAGGCCTGAATGGGTG -3'
Sequencing Primer
(F):5'- AAGGATCTGTTTCACTTTCACTACTG -3'
(R):5'- AAGGCCTGAATGGGTGTCACTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation