Incidental Mutation 'IGL02930:Dnajc4'
| ID |
364053 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dnajc4
|
| Ensembl Gene |
ENSMUSG00000024963 |
| Gene Name |
DnaJ heat shock protein family (Hsp40) member C4 |
| Synonyms |
Mcg18, 2010301J22Rik, Hspf2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
IGL02930
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
6965279-6969940 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 6966801 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 176
(V176F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136062
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025914]
[ENSMUST00000025915]
[ENSMUST00000041686]
[ENSMUST00000130048]
[ENSMUST00000179118]
[ENSMUST00000180765]
|
| AlphaFold |
Q9D844 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025914
|
| SMART Domains |
Protein: ENSMUSP00000025914
Gene: ENSMUSG00000024962
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
PDGF
|
45 |
126 |
1.11e-44 |
SMART |
|
low complexity region
|
182 |
207 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025915
AA Change: V177F
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000025915
Gene: ENSMUSG00000024963
AA Change: V177F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
15 |
N/A |
INTRINSIC |
|
DnaJ
|
36 |
94 |
9.97e-23 |
SMART |
|
transmembrane domain
|
160 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
205 |
227 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041686
|
| SMART Domains |
Protein: ENSMUSP00000041419
Gene: ENSMUSG00000037349
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
206 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130048
|
| SMART Domains |
Protein: ENSMUSP00000120860
Gene: ENSMUSG00000024962
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
PDGF
|
45 |
126 |
1.11e-44 |
SMART |
|
Pfam:VEGF_C
|
134 |
188 |
1.3e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147924
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179118
AA Change: V176F
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000136062
Gene: ENSMUSG00000024963
AA Change: V176F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
15 |
N/A |
INTRINSIC |
|
DnaJ
|
36 |
94 |
9.97e-23 |
SMART |
|
transmembrane domain
|
159 |
178 |
N/A |
INTRINSIC |
|
low complexity region
|
204 |
226 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180762
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180765
|
| SMART Domains |
Protein: ENSMUSP00000137738
Gene: ENSMUSG00000037349
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
206 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,328,226 (GRCm39) |
N3433S |
possibly damaging |
Het |
| Actl9 |
T |
C |
17: 33,653,073 (GRCm39) |
S378P |
probably damaging |
Het |
| Aldh6a1 |
C |
A |
12: 84,480,756 (GRCm39) |
L426F |
possibly damaging |
Het |
| Ankef1 |
T |
C |
2: 136,392,245 (GRCm39) |
I478T |
possibly damaging |
Het |
| Cabs1 |
A |
G |
5: 88,127,745 (GRCm39) |
D132G |
probably damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,879,643 (GRCm39) |
E475G |
probably damaging |
Het |
| Cmtm2b |
A |
C |
8: 105,056,402 (GRCm39) |
M104L |
probably benign |
Het |
| Cops2 |
T |
C |
2: 125,674,109 (GRCm39) |
|
probably benign |
Het |
| Eepd1 |
A |
G |
9: 25,394,536 (GRCm39) |
N267D |
probably damaging |
Het |
| Elobl |
T |
G |
11: 88,856,012 (GRCm39) |
D17A |
possibly damaging |
Het |
| Erich6 |
G |
A |
3: 58,529,775 (GRCm39) |
|
probably benign |
Het |
| Flna |
G |
A |
X: 73,267,506 (GRCm39) |
R2548C |
probably damaging |
Het |
| Gm6878 |
T |
G |
14: 67,548,439 (GRCm39) |
|
probably benign |
Het |
| Gpc1 |
G |
T |
1: 92,785,021 (GRCm39) |
E355* |
probably null |
Het |
| Islr |
C |
T |
9: 58,065,483 (GRCm39) |
|
probably benign |
Het |
| Mex3a |
A |
T |
3: 88,443,532 (GRCm39) |
I203L |
probably benign |
Het |
| Or5p58 |
A |
T |
7: 107,694,621 (GRCm39) |
I52N |
probably damaging |
Het |
| Or6c88 |
T |
C |
10: 129,407,184 (GRCm39) |
I220T |
probably damaging |
Het |
| Or8g24 |
G |
T |
9: 38,989,308 (GRCm39) |
H244Q |
probably damaging |
Het |
| Prokr2 |
T |
C |
2: 132,215,394 (GRCm39) |
S195G |
probably benign |
Het |
| Pyroxd1 |
A |
T |
6: 142,304,778 (GRCm39) |
D335V |
probably damaging |
Het |
| Rps6kl1 |
T |
C |
12: 85,196,548 (GRCm39) |
T39A |
probably benign |
Het |
| Rusc2 |
G |
A |
4: 43,416,376 (GRCm39) |
A561T |
probably damaging |
Het |
| Sel1l3 |
A |
C |
5: 53,280,559 (GRCm39) |
V937G |
possibly damaging |
Het |
| Sh3pxd2b |
A |
G |
11: 32,367,161 (GRCm39) |
T382A |
possibly damaging |
Het |
| Tbx21 |
A |
G |
11: 96,990,865 (GRCm39) |
I271T |
probably damaging |
Het |
| Timeless |
T |
C |
10: 128,083,060 (GRCm39) |
V632A |
probably benign |
Het |
| Tle3 |
A |
G |
9: 61,301,981 (GRCm39) |
N67S |
possibly damaging |
Het |
| Tln2 |
G |
A |
9: 67,300,944 (GRCm39) |
R95* |
probably null |
Het |
| Trim24 |
A |
G |
6: 37,928,380 (GRCm39) |
|
probably benign |
Het |
| Uggt1 |
A |
T |
1: 36,196,537 (GRCm39) |
D1253E |
probably benign |
Het |
| Vmn1r8 |
A |
G |
6: 57,013,579 (GRCm39) |
K210R |
probably benign |
Het |
|
| Other mutations in Dnajc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01107:Dnajc4
|
APN |
19 |
6,966,869 (GRCm39) |
missense |
probably benign |
|
|
IGL02500:Dnajc4
|
APN |
19 |
6,965,456 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
BB009:Dnajc4
|
UTSW |
19 |
6,965,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB019:Dnajc4
|
UTSW |
19 |
6,965,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2509:Dnajc4
|
UTSW |
19 |
6,968,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4157:Dnajc4
|
UTSW |
19 |
6,967,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4747:Dnajc4
|
UTSW |
19 |
6,966,872 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6060:Dnajc4
|
UTSW |
19 |
6,968,093 (GRCm39) |
nonsense |
probably null |
|
|
R7932:Dnajc4
|
UTSW |
19 |
6,965,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8752:Dnajc4
|
UTSW |
19 |
6,966,801 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Posted On |
2015-12-18 |
Incidental Mutation