Incidental Mutation 'R6400:Dnajc14'
ID |
516134 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnajc14
|
Ensembl Gene |
ENSMUSG00000025354 |
Gene Name |
DnaJ heat shock protein family (Hsp40) member C14 |
Synonyms |
LIP6, 5730551F12Rik, HDJ3, DRIP78 |
MMRRC Submission |
044547-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6400 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
128641423-128655317 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 128643359 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 427
(E427G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151343
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026410]
[ENSMUST00000051011]
[ENSMUST00000139227]
[ENSMUST00000217745]
[ENSMUST00000218001]
[ENSMUST00000219508]
[ENSMUST00000218511]
|
AlphaFold |
Q921R4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026410
AA Change: E427G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000026410 Gene: ENSMUSG00000025354 AA Change: E427G
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 damaging
Transcript: ENSMUST00000217745
AA Change: E427G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218001
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000219508
AA Change: E427G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219473
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218765
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218511
|
Meta Mutation Damage Score |
0.1645 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.2%
|
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 |
Abcc9 |
A |
G |
6: 142,638,435 (GRCm39) |
*160Q |
probably null |
Het |
Aen |
G |
A |
7: 78,557,142 (GRCm39) |
G330E |
probably benign |
Het |
Akap8l |
G |
A |
17: 32,555,294 (GRCm39) |
R262C |
probably damaging |
Het |
Cbx8 |
G |
A |
11: 118,929,694 (GRCm39) |
Q300* |
probably null |
Het |
Cd274 |
C |
T |
19: 29,362,808 (GRCm39) |
T290M |
probably damaging |
Het |
Cd36 |
A |
C |
5: 18,019,721 (GRCm39) |
S127A |
probably damaging |
Het |
Celf3 |
A |
G |
3: 94,387,593 (GRCm39) |
Y55C |
probably damaging |
Het |
Clec1a |
A |
T |
6: 129,412,316 (GRCm39) |
|
probably null |
Het |
Cog2 |
A |
T |
8: 125,277,045 (GRCm39) |
I684F |
probably damaging |
Het |
Cyp2c65 |
C |
T |
19: 39,049,558 (GRCm39) |
L29F |
possibly damaging |
Het |
Dytn |
A |
T |
1: 63,680,335 (GRCm39) |
L408* |
probably null |
Het |
Flg |
A |
G |
3: 93,187,228 (GRCm39) |
T227A |
probably benign |
Het |
Heatr4 |
T |
A |
12: 84,001,784 (GRCm39) |
K887M |
probably null |
Het |
Hoxb1 |
C |
T |
11: 96,256,818 (GRCm39) |
Q56* |
probably null |
Het |
Kcnh7 |
T |
A |
2: 62,569,688 (GRCm39) |
N736I |
probably damaging |
Het |
Lgr4 |
T |
C |
2: 109,821,478 (GRCm39) |
V120A |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,458,397 (GRCm39) |
Y326C |
possibly damaging |
Het |
Map3k1 |
A |
T |
13: 111,892,259 (GRCm39) |
S999T |
probably damaging |
Het |
Med12l |
T |
C |
3: 59,155,332 (GRCm39) |
F1171L |
probably damaging |
Het |
Muc5b |
T |
C |
7: 141,412,402 (GRCm39) |
S1783P |
unknown |
Het |
Nbr1 |
T |
C |
11: 101,456,600 (GRCm39) |
L159P |
probably damaging |
Het |
Nme9 |
T |
C |
9: 99,351,760 (GRCm39) |
F248S |
possibly damaging |
Het |
Or4x11 |
C |
T |
2: 89,867,739 (GRCm39) |
L159F |
probably benign |
Het |
Or6k2 |
T |
C |
1: 173,986,830 (GRCm39) |
S164P |
probably damaging |
Het |
Rasgrf1 |
C |
T |
9: 89,873,683 (GRCm39) |
T664I |
probably damaging |
Het |
Setx |
A |
G |
2: 29,020,286 (GRCm39) |
D91G |
probably damaging |
Het |
Stim1 |
A |
G |
7: 102,080,157 (GRCm39) |
R514G |
probably null |
Het |
Svep1 |
C |
A |
4: 58,049,169 (GRCm39) |
G3446V |
probably damaging |
Het |
Tcte2 |
T |
A |
17: 13,942,714 (GRCm39) |
|
probably benign |
Het |
Trmt10b |
A |
G |
4: 45,308,562 (GRCm39) |
K239E |
probably damaging |
Het |
Wdr70 |
A |
T |
15: 8,072,322 (GRCm39) |
S189T |
probably benign |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GACCGCTTGGCTGTTCTCTT -3'
(R):5'- CCCTTGACTCTACACTCCCTAAA -3'
Sequencing Primer
(F):5'- GTTCTCTTGGCTGGGTTCTCC -3'
(R):5'- TTGACTCTACACTCCCTAAAAACTGG -3'
|
Posted On |
2018-05-04 |