Incidental Mutation 'IGL00432:Dnajc14'
ID |
4638 |
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 # |
IGL00432
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
128641423-128655317 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 128642201 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 41
(D41G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151348
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026410]
[ENSMUST00000051011]
[ENSMUST00000139227]
[ENSMUST00000217745]
[ENSMUST00000218001]
[ENSMUST00000218511]
[ENSMUST00000219508]
|
AlphaFold |
Q921R4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026410
AA Change: D41G
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000026410 Gene: ENSMUSG00000025354 AA Change: D41G
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: ENSMUST00000051011
|
SMART Domains |
Protein: ENSMUSP00000050451 Gene: ENSMUSG00000047090
Domain | Start | End | E-Value | Type |
Pfam:DUF4203
|
43 |
240 |
2.4e-47 |
PFAM |
low complexity region
|
257 |
271 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139227
|
SMART Domains |
Protein: ENSMUSP00000118082 Gene: ENSMUSG00000047090
Domain | Start | End | E-Value | Type |
Pfam:DUF4203
|
42 |
96 |
4.5e-20 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152966
|
SMART Domains |
Protein: ENSMUSP00000117574 Gene: ENSMUSG00000047090
Domain | Start | End | E-Value | Type |
Pfam:DUF4203
|
42 |
241 |
1.9e-56 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217745
AA Change: D41G
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000218001
AA Change: D41G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000218511
AA Change: D41G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219473
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219508
AA Change: D41G
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219535
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218765
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AA986860 |
A |
T |
1: 130,670,573 (GRCm39) |
Q265L |
possibly damaging |
Het |
Akr1c18 |
T |
A |
13: 4,187,232 (GRCm39) |
H168L |
probably damaging |
Het |
Arid3b |
A |
G |
9: 57,741,207 (GRCm39) |
S80P |
possibly damaging |
Het |
Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
Brd1 |
A |
C |
15: 88,614,361 (GRCm39) |
V178G |
probably benign |
Het |
Brd2 |
C |
T |
17: 34,333,397 (GRCm39) |
R26Q |
probably damaging |
Het |
Ddr2 |
T |
C |
1: 169,825,527 (GRCm39) |
M358V |
probably benign |
Het |
Erap1 |
T |
G |
13: 74,821,778 (GRCm39) |
V711G |
probably benign |
Het |
Gchfr |
A |
G |
2: 119,000,229 (GRCm39) |
R37G |
probably damaging |
Het |
Gm20518 |
T |
A |
16: 17,676,362 (GRCm39) |
N136I |
probably damaging |
Het |
Grm6 |
A |
T |
11: 50,754,124 (GRCm39) |
|
probably benign |
Het |
Hydin |
T |
A |
8: 111,327,884 (GRCm39) |
V4797E |
probably damaging |
Het |
Iws1 |
C |
A |
18: 32,217,741 (GRCm39) |
N448K |
probably benign |
Het |
Lin7c |
T |
C |
2: 109,726,798 (GRCm39) |
|
probably benign |
Het |
Lrrc40 |
T |
A |
3: 157,754,087 (GRCm39) |
L196Q |
probably damaging |
Het |
Lrrtm2 |
C |
T |
18: 35,346,321 (GRCm39) |
G327D |
probably benign |
Het |
Masp1 |
C |
T |
16: 23,332,601 (GRCm39) |
C78Y |
probably damaging |
Het |
Mmd |
C |
T |
11: 90,155,360 (GRCm39) |
R101W |
probably damaging |
Het |
Myo1d |
A |
G |
11: 80,492,566 (GRCm39) |
Y730H |
probably benign |
Het |
Pcdh15 |
A |
G |
10: 74,126,914 (GRCm39) |
|
probably benign |
Het |
Pglyrp4 |
G |
A |
3: 90,646,335 (GRCm39) |
V290M |
probably damaging |
Het |
Plxna2 |
G |
A |
1: 194,326,404 (GRCm39) |
V113I |
probably benign |
Het |
Prkch |
T |
A |
12: 73,749,363 (GRCm39) |
|
probably benign |
Het |
Rabgef1 |
G |
T |
5: 130,237,565 (GRCm39) |
E213* |
probably null |
Het |
Rdh16f2 |
T |
A |
10: 127,702,533 (GRCm39) |
C37S |
probably damaging |
Het |
Reln |
A |
G |
5: 22,215,125 (GRCm39) |
Y1109H |
probably damaging |
Het |
Scn7a |
A |
T |
2: 66,572,326 (GRCm39) |
L215* |
probably null |
Het |
Slc25a33 |
A |
T |
4: 149,829,376 (GRCm39) |
L261H |
probably damaging |
Het |
Slc28a3 |
A |
T |
13: 58,717,225 (GRCm39) |
|
probably null |
Het |
Slc38a6 |
T |
C |
12: 73,398,577 (GRCm39) |
I369T |
probably benign |
Het |
Tgm4 |
A |
T |
9: 122,891,447 (GRCm39) |
|
probably benign |
Het |
Tnr |
A |
G |
1: 159,688,815 (GRCm39) |
I426V |
probably benign |
Het |
Vmn1r216 |
A |
G |
13: 23,283,574 (GRCm39) |
I86V |
probably benign |
Het |
Wwc1 |
G |
A |
11: 35,735,029 (GRCm39) |
P949S |
possibly damaging |
Het |
Zfp326 |
A |
T |
5: 106,044,399 (GRCm39) |
I286F |
probably damaging |
Het |
|
Other mutations in Dnajc14 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00924:Dnajc14
|
APN |
10 |
128,653,188 (GRCm39) |
missense |
probably benign |
|
IGL00943:Dnajc14
|
APN |
10 |
128,652,675 (GRCm39) |
missense |
possibly damaging |
0.92 |
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 |
2012-04-20 |