Incidental Mutation 'R6399:Dnajc14'
| ID |
516104 |
| 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 |
044546-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6399 (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]
[ENSMUST00000218511]
[ENSMUST00000219508]
|
| 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 benign
Transcript: ENSMUST00000218511
|
| 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
|
| Meta Mutation Damage Score |
0.1645 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 95.7%
|
| Validation Efficiency |
97% (28/29) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
T |
C |
5: 138,645,821 (GRCm39) |
C569R |
probably damaging |
Het |
| Acadsb |
T |
A |
7: 131,031,784 (GRCm39) |
W207R |
probably damaging |
Het |
| Apbb2 |
C |
T |
5: 66,608,810 (GRCm39) |
|
probably null |
Het |
| Atad2b |
T |
C |
12: 5,007,558 (GRCm39) |
V415A |
probably damaging |
Het |
| Ccdc150 |
G |
A |
1: 54,303,116 (GRCm39) |
|
probably null |
Het |
| Cep20 |
TTGTG |
TTG |
16: 14,118,009 (GRCm39) |
|
probably null |
Het |
| Chd7 |
A |
G |
4: 8,828,274 (GRCm39) |
T1072A |
probably damaging |
Het |
| Depdc1b |
T |
A |
13: 108,460,580 (GRCm39) |
F63L |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,344 (GRCm39) |
V2431M |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,458,882 (GRCm39) |
E2421G |
probably damaging |
Het |
| Kcna4 |
T |
C |
2: 107,126,894 (GRCm39) |
S543P |
probably damaging |
Het |
| Lrrc30 |
T |
A |
17: 67,939,681 (GRCm39) |
|
probably benign |
Het |
| Msh6 |
T |
A |
17: 88,294,319 (GRCm39) |
S1025T |
probably damaging |
Het |
| Ndrg3 |
C |
G |
2: 156,782,294 (GRCm39) |
A191P |
probably damaging |
Het |
| Or1o4 |
T |
C |
17: 37,590,666 (GRCm39) |
Y215C |
probably damaging |
Het |
| Or5aq7 |
C |
T |
2: 86,938,330 (GRCm39) |
V134I |
probably benign |
Het |
| Or5p5 |
A |
G |
7: 107,413,961 (GRCm39) |
T57A |
possibly damaging |
Het |
| Pls1 |
A |
G |
9: 95,636,798 (GRCm39) |
I558T |
probably damaging |
Het |
| Rnf34 |
T |
C |
5: 122,999,839 (GRCm39) |
F32L |
probably benign |
Het |
| Serpinb9g |
A |
T |
13: 33,676,834 (GRCm39) |
L205F |
probably benign |
Het |
| Tbc1d24 |
T |
A |
17: 24,427,303 (GRCm39) |
I220F |
probably damaging |
Het |
| Thsd7b |
A |
T |
1: 129,744,385 (GRCm39) |
T758S |
probably benign |
Het |
| Trak1 |
A |
G |
9: 121,282,562 (GRCm39) |
|
probably null |
Het |
| Ttn |
G |
C |
2: 76,556,407 (GRCm39) |
F30199L |
probably benign |
Het |
| Ttn |
T |
G |
2: 76,556,406 (GRCm39) |
S30200R |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,202,447 (GRCm39) |
D1050G |
possibly damaging |
Het |
| Veph1 |
T |
A |
3: 66,033,312 (GRCm39) |
S605C |
probably benign |
Het |
| Wbp1 |
A |
G |
6: 83,096,982 (GRCm39) |
|
probably benign |
Het |
| Ythdc2 |
C |
A |
18: 45,019,469 (GRCm39) |
Q1413K |
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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGACCGCTTGGCTGTTCTC -3'
(R):5'- CCCTTGACTCTACACTCCCTAAA -3'
Sequencing Primer
(F):5'- CGCTTGGCTGTTCTCTTGGC -3'
(R):5'- TTGACTCTACACTCCCTAAAAACTGG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation