Incidental Mutation 'R8394:Hspa14'
| ID |
647513 |
| 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 |
067758-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
R8394 (G1)
|
| Quality Score |
169.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
3489891-3513851 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 3513670 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027961
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027961]
[ENSMUST00000036350]
[ENSMUST00000124331]
[ENSMUST00000140494]
|
| AlphaFold |
Q99M31 |
| Predicted Effect |
probably null
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 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: ENSMUST00000140494
|
| SMART Domains |
Protein: ENSMUSP00000120385
Gene: ENSMUSG00000051396
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSP70
|
3 |
88 |
1.1e-22 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700129C05Rik |
T |
C |
14: 59,379,623 (GRCm39) |
N137S |
probably benign |
Het |
| 4930505A04Rik |
T |
A |
11: 30,404,880 (GRCm39) |
|
probably null |
Het |
| Abcc8 |
A |
G |
7: 45,803,977 (GRCm39) |
I399T |
probably benign |
Het |
| Aldh3b2 |
A |
C |
19: 4,029,461 (GRCm39) |
Q278P |
probably benign |
Het |
| Arl8b |
A |
G |
6: 108,760,244 (GRCm39) |
D10G |
possibly damaging |
Het |
| Baiap3 |
T |
C |
17: 25,469,096 (GRCm39) |
N229S |
probably benign |
Het |
| Chrdl2 |
T |
C |
7: 99,666,292 (GRCm39) |
S71P |
possibly damaging |
Het |
| Cmbl |
A |
G |
15: 31,585,541 (GRCm39) |
M142V |
possibly damaging |
Het |
| Cpt1b |
A |
G |
15: 89,306,490 (GRCm39) |
|
probably null |
Het |
| Crybg3 |
T |
C |
16: 59,378,651 (GRCm39) |
K868E |
probably benign |
Het |
| Efl1 |
A |
G |
7: 82,411,986 (GRCm39) |
I792V |
probably benign |
Het |
| Evx2 |
A |
G |
2: 74,486,321 (GRCm39) |
L356S |
probably benign |
Het |
| Ighv5-8 |
C |
T |
12: 113,618,813 (GRCm39) |
A76V |
unknown |
Het |
| Il7r |
A |
G |
15: 9,516,504 (GRCm39) |
F99S |
probably damaging |
Het |
| Klra2 |
A |
T |
6: 131,222,273 (GRCm39) |
V6D |
possibly damaging |
Het |
| Lce3c |
T |
C |
3: 92,852,760 (GRCm39) |
S74P |
unknown |
Het |
| Nectin2 |
C |
T |
7: 19,467,137 (GRCm39) |
|
probably null |
Het |
| Nfil3 |
A |
G |
13: 53,121,849 (GRCm39) |
S352P |
probably benign |
Het |
| Nme6 |
T |
A |
9: 109,664,394 (GRCm39) |
M1K |
probably null |
Het |
| Or52z13 |
A |
T |
7: 103,247,404 (GRCm39) |
I294F |
probably damaging |
Het |
| Otogl |
A |
G |
10: 107,722,326 (GRCm39) |
|
probably null |
Het |
| Plcb1 |
T |
C |
2: 135,159,710 (GRCm39) |
V391A |
probably damaging |
Het |
| Ptf1a |
T |
A |
2: 19,450,746 (GRCm39) |
D25E |
probably damaging |
Het |
| Ralbp1 |
C |
T |
17: 66,159,748 (GRCm39) |
R505H |
probably benign |
Het |
| Scube1 |
T |
C |
15: 83,492,492 (GRCm39) |
Y944C |
probably damaging |
Het |
| Sdk2 |
A |
G |
11: 113,729,542 (GRCm39) |
I1039T |
probably benign |
Het |
| Senp7 |
G |
T |
16: 55,990,190 (GRCm39) |
W646L |
possibly damaging |
Het |
| Sphkap |
A |
T |
1: 83,253,797 (GRCm39) |
N1317K |
probably benign |
Het |
| Strc |
G |
T |
2: 121,209,490 (GRCm39) |
Q278K |
probably benign |
Het |
| Tbc1d30 |
T |
A |
10: 121,183,013 (GRCm39) |
R142* |
probably null |
Het |
| Tmtc3 |
T |
C |
10: 100,282,808 (GRCm39) |
I916V |
probably damaging |
Het |
| Tomm40l |
A |
T |
1: 171,048,776 (GRCm39) |
H79Q |
probably damaging |
Het |
| Txndc12 |
T |
A |
4: 108,713,420 (GRCm39) |
|
probably null |
Het |
| Vmn2r2 |
T |
C |
3: 64,044,858 (GRCm39) |
N96S |
probably damaging |
Het |
| Vmn2r27 |
T |
C |
6: 124,168,776 (GRCm39) |
T785A |
possibly damaging |
Het |
| Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
| Zfp462 |
A |
G |
4: 55,011,862 (GRCm39) |
D1276G |
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 |
|
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 |
|
R9780:Hspa14
|
UTSW |
2 |
3,490,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTATCCAAGATCCGGCTC -3'
(R):5'- CCTTATGTTGATTGGCTGCGAC -3'
Sequencing Primer
(F):5'- AAGATCCGGCTCTCTGTATCCAC -3'
(R):5'- ATTGGCTGCGACTTGGGAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation