Incidental Mutation 'IGL01107:Dnajc4'
| ID |
53255 |
| 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: 0.066)
|
| Stock # |
IGL01107
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
6965279-6969940 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 6966869 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 153
(R153H)
|
| 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: R154H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000025915
Gene: ENSMUSG00000024963
AA Change: R154H
| 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 |
probably benign
Transcript: ENSMUST00000179118
AA Change: R153H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000136062
Gene: ENSMUSG00000024963
AA Change: R153H
| 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 |
|---|
| 1700001O22Rik |
A |
T |
2: 30,687,948 (GRCm39) |
F215Y |
probably damaging |
Het |
| 2700049A03Rik |
T |
C |
12: 71,241,242 (GRCm39) |
|
probably null |
Het |
| Akip1 |
C |
T |
7: 109,311,045 (GRCm39) |
T195M |
probably damaging |
Het |
| Arhgef16 |
T |
C |
4: 154,364,701 (GRCm39) |
N631S |
probably benign |
Het |
| Brat1 |
C |
T |
5: 140,702,932 (GRCm39) |
S544L |
probably damaging |
Het |
| Cfap65 |
C |
T |
1: 74,958,342 (GRCm39) |
|
probably null |
Het |
| Defa22 |
T |
A |
8: 21,653,053 (GRCm39) |
|
probably null |
Het |
| Dusp11 |
A |
G |
6: 85,929,352 (GRCm39) |
|
probably benign |
Het |
| E2f4 |
T |
A |
8: 106,030,809 (GRCm39) |
|
probably benign |
Het |
| Ece1 |
T |
A |
4: 137,665,969 (GRCm39) |
L271Q |
probably damaging |
Het |
| Fcgrt |
T |
C |
7: 44,742,752 (GRCm39) |
D343G |
probably damaging |
Het |
| Igsf10 |
T |
C |
3: 59,238,945 (GRCm39) |
E412G |
probably damaging |
Het |
| Il4ra |
G |
T |
7: 125,175,086 (GRCm39) |
L431F |
possibly damaging |
Het |
| Ilrun |
A |
T |
17: 28,005,043 (GRCm39) |
|
probably null |
Het |
| Krt86 |
T |
A |
15: 101,373,306 (GRCm39) |
L200Q |
probably damaging |
Het |
| Lpcat1 |
T |
A |
13: 73,642,947 (GRCm39) |
F126I |
probably damaging |
Het |
| Prag1 |
A |
G |
8: 36,567,085 (GRCm39) |
T79A |
probably benign |
Het |
| Pramel13 |
A |
T |
4: 144,119,664 (GRCm39) |
I301N |
probably benign |
Het |
| Psg29 |
G |
T |
7: 16,938,850 (GRCm39) |
L41F |
probably benign |
Het |
| Rai14 |
C |
T |
15: 10,599,797 (GRCm39) |
|
probably benign |
Het |
| Reg3a |
A |
G |
6: 78,360,228 (GRCm39) |
D136G |
probably benign |
Het |
| Rif1 |
A |
G |
2: 52,001,315 (GRCm39) |
T1590A |
probably benign |
Het |
| Rorb |
A |
T |
19: 18,934,692 (GRCm39) |
L300* |
probably null |
Het |
| Sin3b |
T |
C |
8: 73,457,733 (GRCm39) |
C150R |
possibly damaging |
Het |
| Smarcc1 |
C |
A |
9: 110,051,005 (GRCm39) |
H942N |
probably damaging |
Het |
| Tas2r105 |
A |
G |
6: 131,664,074 (GRCm39) |
V118A |
probably benign |
Het |
| Tmem131 |
T |
C |
1: 36,868,662 (GRCm39) |
S388G |
probably damaging |
Het |
| Ttll9 |
C |
A |
2: 152,844,809 (GRCm39) |
|
probably benign |
Het |
| Ush1c |
A |
G |
7: 45,859,325 (GRCm39) |
L498P |
probably damaging |
Het |
| Vmn2r100 |
A |
G |
17: 19,741,618 (GRCm39) |
Y110C |
probably damaging |
Het |
| Zbtb11 |
T |
C |
16: 55,826,370 (GRCm39) |
Y800H |
probably damaging |
Het |
| Zdhhc20 |
T |
A |
14: 58,103,046 (GRCm39) |
E101V |
probably damaging |
Het |
|
| Other mutations in Dnajc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02500:Dnajc4
|
APN |
19 |
6,965,456 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02930:Dnajc4
|
APN |
19 |
6,966,801 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
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 |
2013-06-21 |
Incidental Mutation