Incidental Mutation 'IGL02833:Dnajc14'
ID |
361541 |
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 # |
IGL02833
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
128641423-128655317 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 128642468 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 130
(N130S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151567
(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: N130S
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000026410 Gene: ENSMUSG00000025354 AA Change: N130S
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: N130S
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218001
AA Change: N130S
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218511
AA Change: N130S
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219508
AA Change: N130S
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219473
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218765
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ache |
A |
G |
5: 137,289,371 (GRCm39) |
|
probably benign |
Het |
Atr |
A |
T |
9: 95,744,905 (GRCm39) |
H74L |
probably damaging |
Het |
Brca2 |
A |
T |
5: 150,465,255 (GRCm39) |
H1673L |
possibly damaging |
Het |
Brwd1 |
A |
T |
16: 95,853,771 (GRCm39) |
I495K |
probably damaging |
Het |
Cacna1s |
A |
T |
1: 135,998,743 (GRCm39) |
I213F |
probably benign |
Het |
Cds1 |
T |
C |
5: 101,962,332 (GRCm39) |
S316P |
possibly damaging |
Het |
Ces1b |
G |
A |
8: 93,806,038 (GRCm39) |
P68S |
probably damaging |
Het |
Cilp |
A |
G |
9: 65,185,206 (GRCm39) |
I434V |
probably benign |
Het |
Csgalnact2 |
A |
G |
6: 118,106,229 (GRCm39) |
Y30H |
probably damaging |
Het |
Defb7 |
T |
C |
8: 19,545,140 (GRCm39) |
V6A |
probably benign |
Het |
Dlg2 |
A |
T |
7: 92,080,335 (GRCm39) |
L841F |
probably damaging |
Het |
Dock7 |
T |
A |
4: 98,833,732 (GRCm39) |
D1863V |
probably damaging |
Het |
Dsp |
A |
G |
13: 38,376,897 (GRCm39) |
R1561G |
possibly damaging |
Het |
Fads2b |
G |
T |
2: 85,332,551 (GRCm39) |
R158S |
possibly damaging |
Het |
Gstt4 |
G |
T |
10: 75,658,174 (GRCm39) |
F28L |
probably damaging |
Het |
Hectd1 |
G |
T |
12: 51,810,864 (GRCm39) |
D1690E |
probably damaging |
Het |
Hspg2 |
T |
C |
4: 137,282,441 (GRCm39) |
S3394P |
probably benign |
Het |
Ift25 |
T |
C |
4: 107,132,492 (GRCm39) |
|
probably benign |
Het |
Igf2r |
A |
T |
17: 12,911,610 (GRCm39) |
C1910S |
probably damaging |
Het |
Jakmip2 |
T |
C |
18: 43,708,516 (GRCm39) |
|
probably benign |
Het |
Katnip |
A |
T |
7: 125,449,584 (GRCm39) |
R883* |
probably null |
Het |
Kif1b |
C |
T |
4: 149,330,821 (GRCm39) |
V612M |
probably damaging |
Het |
Lrrd1 |
A |
G |
5: 3,900,709 (GRCm39) |
E338G |
probably damaging |
Het |
Mmp9 |
C |
A |
2: 164,791,723 (GRCm39) |
D205E |
probably damaging |
Het |
Mylk |
A |
T |
16: 34,735,270 (GRCm39) |
H750L |
probably benign |
Het |
Naip6 |
A |
G |
13: 100,436,121 (GRCm39) |
S801P |
probably damaging |
Het |
Nlrp1b |
A |
T |
11: 71,051,998 (GRCm39) |
M980K |
probably benign |
Het |
Or14j1 |
G |
A |
17: 38,146,831 (GRCm39) |
V314I |
probably benign |
Het |
Or2y3 |
T |
C |
17: 38,393,243 (GRCm39) |
K209E |
possibly damaging |
Het |
Or5d43 |
C |
A |
2: 88,104,776 (GRCm39) |
V206F |
probably benign |
Het |
Or6c88 |
A |
G |
10: 129,406,619 (GRCm39) |
T32A |
probably benign |
Het |
Pdk1 |
A |
G |
2: 71,727,989 (GRCm39) |
|
probably null |
Het |
Pex7 |
A |
G |
10: 19,770,500 (GRCm39) |
S125P |
probably damaging |
Het |
Pigu |
T |
C |
2: 155,187,565 (GRCm39) |
|
probably benign |
Het |
Prr16 |
T |
A |
18: 51,436,164 (GRCm39) |
H214Q |
probably damaging |
Het |
Psme4 |
C |
T |
11: 30,800,715 (GRCm39) |
|
probably benign |
Het |
Sf3b3 |
A |
G |
8: 111,538,609 (GRCm39) |
|
probably null |
Het |
Sp4 |
T |
C |
12: 118,225,616 (GRCm39) |
I583V |
probably benign |
Het |
Spata22 |
A |
G |
11: 73,234,569 (GRCm39) |
T224A |
probably benign |
Het |
Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
Tmem119 |
T |
A |
5: 113,933,432 (GRCm39) |
Y123F |
probably damaging |
Het |
Umps |
A |
T |
16: 33,782,523 (GRCm39) |
L133* |
probably null |
Het |
Usp46 |
T |
A |
5: 74,177,343 (GRCm39) |
T179S |
probably benign |
Het |
Vtcn1 |
T |
A |
3: 100,795,701 (GRCm39) |
Y223N |
probably damaging |
Het |
Wiz |
A |
G |
17: 32,576,853 (GRCm39) |
M567T |
probably 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 |
|
IGL00943:Dnajc14
|
APN |
10 |
128,652,675 (GRCm39) |
missense |
possibly damaging |
0.92 |
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 |
2015-12-18 |