Incidental Mutation 'IGL00943:Dnajc14'
| ID |
28357 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dnajc14
|
| Ensembl Gene |
ENSMUSG00000025354 |
| Gene Name |
DnaJ heat shock protein family (Hsp40) member C14 |
| Synonyms |
LIP6, 5730551F12Rik, HDJ3, DRIP78 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00943
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
128641423-128655317 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 128652675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 578
(S578A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151343
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026409]
[ENSMUST00000026410]
[ENSMUST00000217685]
[ENSMUST00000217745]
[ENSMUST00000219215]
[ENSMUST00000219508]
[ENSMUST00000219524]
|
| AlphaFold |
Q921R4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026409
|
| SMART Domains |
Protein: ENSMUSP00000026409
Gene: ENSMUSG00000025353
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ORMDL
|
11 |
146 |
4.4e-57 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026410
AA Change: S578A
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000026410
Gene: ENSMUSG00000025354
AA Change: S578A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
176 |
N/A |
INTRINSIC |
|
transmembrane domain
|
300 |
322 |
N/A |
INTRINSIC |
|
transmembrane domain
|
327 |
349 |
N/A |
INTRINSIC |
|
DnaJ
|
443 |
500 |
1.3e-21 |
SMART |
|
Pfam:Jiv90
|
532 |
621 |
5.9e-40 |
PFAM |
|
low complexity region
|
690 |
700 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217685
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217745
AA Change: S578A
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218622
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219215
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219473
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219508
AA Change: S578A
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219524
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl1 |
A |
G |
2: 31,680,824 (GRCm39) |
Y372C |
probably damaging |
Het |
| Carmil1 |
C |
T |
13: 24,295,869 (GRCm39) |
V382M |
possibly damaging |
Het |
| Chkb |
A |
T |
15: 89,312,951 (GRCm39) |
V138E |
probably damaging |
Het |
| Col7a1 |
G |
T |
9: 108,806,765 (GRCm39) |
G2434* |
probably null |
Het |
| Cpa3 |
A |
G |
3: 20,282,979 (GRCm39) |
V156A |
possibly damaging |
Het |
| Dicer1 |
A |
C |
12: 104,663,031 (GRCm39) |
S1517A |
possibly damaging |
Het |
| Dse |
A |
G |
10: 34,038,801 (GRCm39) |
Y201H |
probably damaging |
Het |
| Fam114a2 |
A |
T |
11: 57,405,099 (GRCm39) |
M1K |
probably null |
Het |
| Gm4847 |
A |
T |
1: 166,469,922 (GRCm39) |
S50R |
probably benign |
Het |
| Gpr156 |
A |
G |
16: 37,808,938 (GRCm39) |
Y220C |
probably damaging |
Het |
| Grxcr1 |
T |
C |
5: 68,189,638 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,289,512 (GRCm39) |
V3824A |
probably benign |
Het |
| Ino80b |
A |
T |
6: 83,101,129 (GRCm39) |
L116Q |
probably damaging |
Het |
| Inpp5e |
A |
G |
2: 26,290,163 (GRCm39) |
|
probably benign |
Het |
| Lrrc8e |
T |
C |
8: 4,285,658 (GRCm39) |
C628R |
probably damaging |
Het |
| Maml1 |
A |
G |
11: 50,149,541 (GRCm39) |
V733A |
probably damaging |
Het |
| Mcm9 |
A |
G |
10: 53,424,685 (GRCm39) |
L635P |
probably damaging |
Het |
| Myh15 |
A |
T |
16: 48,986,176 (GRCm39) |
I1549F |
probably damaging |
Het |
| Myo1b |
T |
A |
1: 51,823,646 (GRCm39) |
I414F |
probably damaging |
Het |
| Nlrc3 |
T |
A |
16: 3,782,981 (GRCm39) |
I159F |
possibly damaging |
Het |
| Nvl |
A |
T |
1: 180,929,199 (GRCm39) |
D727E |
possibly damaging |
Het |
| Or1l4 |
T |
C |
2: 37,092,183 (GRCm39) |
V310A |
probably benign |
Het |
| Pgs1 |
A |
G |
11: 117,896,366 (GRCm39) |
I348V |
probably benign |
Het |
| Pkp1 |
A |
T |
1: 135,805,922 (GRCm39) |
V592E |
probably damaging |
Het |
| Setd7 |
T |
A |
3: 51,440,459 (GRCm39) |
D194V |
probably damaging |
Het |
| Slc26a7 |
T |
C |
4: 14,506,477 (GRCm39) |
D624G |
probably benign |
Het |
| Slc39a6 |
A |
G |
18: 24,722,802 (GRCm39) |
|
probably null |
Het |
| Sorbs1 |
T |
C |
19: 40,283,484 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf19 |
A |
T |
14: 61,261,631 (GRCm39) |
M56K |
possibly damaging |
Het |
| Togaram2 |
C |
T |
17: 72,031,999 (GRCm39) |
R873C |
probably damaging |
Het |
| Tubgcp6 |
G |
A |
15: 89,006,600 (GRCm39) |
R141* |
probably null |
Het |
| Vill |
A |
G |
9: 118,892,380 (GRCm39) |
E337G |
probably damaging |
Het |
| Vmn1r17 |
A |
G |
6: 57,338,185 (GRCm39) |
L11S |
possibly damaging |
Het |
|
| Other mutations in Dnajc14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00432:Dnajc14
|
APN |
10 |
128,642,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00924:Dnajc14
|
APN |
10 |
128,653,188 (GRCm39) |
missense |
probably benign |
|
|
IGL02833:Dnajc14
|
APN |
10 |
128,642,468 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02799:Dnajc14
|
UTSW |
10 |
128,642,725 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
PIT4812001:Dnajc14
|
UTSW |
10 |
128,642,552 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0054:Dnajc14
|
UTSW |
10 |
128,643,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0054:Dnajc14
|
UTSW |
10 |
128,643,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1932:Dnajc14
|
UTSW |
10 |
128,652,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4412:Dnajc14
|
UTSW |
10 |
128,642,074 (GRCm39) |
start gained |
probably benign |
|
|
R4717:Dnajc14
|
UTSW |
10 |
128,642,113 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4804:Dnajc14
|
UTSW |
10 |
128,649,926 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4870:Dnajc14
|
UTSW |
10 |
128,653,219 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6323:Dnajc14
|
UTSW |
10 |
128,643,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6325:Dnajc14
|
UTSW |
10 |
128,643,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6399:Dnajc14
|
UTSW |
10 |
128,643,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6400:Dnajc14
|
UTSW |
10 |
128,643,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6452:Dnajc14
|
UTSW |
10 |
128,643,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6453:Dnajc14
|
UTSW |
10 |
128,643,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6556:Dnajc14
|
UTSW |
10 |
128,650,500 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6847:Dnajc14
|
UTSW |
10 |
128,652,656 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8692:Dnajc14
|
UTSW |
10 |
128,642,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8859:Dnajc14
|
UTSW |
10 |
128,642,488 (GRCm39) |
missense |
probably benign |
|
|
R9254:Dnajc14
|
UTSW |
10 |
128,652,743 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9260:Dnajc14
|
UTSW |
10 |
128,642,766 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R9277:Dnajc14
|
UTSW |
10 |
128,642,689 (GRCm39) |
missense |
probably benign |
|
|
R9379:Dnajc14
|
UTSW |
10 |
128,652,743 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9526:Dnajc14
|
UTSW |
10 |
128,642,260 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation