Incidental Mutation 'IGL00840:Dnajc16'
ID |
13427 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Dnajc16
|
Ensembl Gene |
ENSMUSG00000040697 |
Gene Name |
DnaJ heat shock protein family (Hsp40) member C16 |
Synonyms |
2900037O03Rik, 4732437J24Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.772)
|
Stock # |
IGL00840
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
141487500-141518242 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 141495314 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Valine
at position 468
(G468V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048714
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038014]
|
AlphaFold |
Q80TN4 |
PDB Structure |
Solution structure of the J domain of the pseudo DnaJ protein, mouse hypothetical mKIAA0962 [SOLUTION NMR]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038014
AA Change: G468V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000048714 Gene: ENSMUSG00000040697 AA Change: G468V
Domain | Start | End | E-Value | Type |
DnaJ
|
28 |
85 |
4.5e-30 |
SMART |
Pfam:Thioredoxin
|
142 |
243 |
4.4e-8 |
PFAM |
low complexity region
|
537 |
549 |
N/A |
INTRINSIC |
low complexity region
|
730 |
750 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138654
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts20 |
T |
C |
15: 94,180,363 (GRCm39) |
Y1764C |
probably damaging |
Het |
Agbl3 |
T |
C |
6: 34,776,094 (GRCm39) |
V200A |
possibly damaging |
Het |
Akr1b10 |
T |
C |
6: 34,371,041 (GRCm39) |
S264P |
possibly damaging |
Het |
Camkmt |
T |
G |
17: 85,765,551 (GRCm39) |
L319* |
probably null |
Het |
Cdhr2 |
T |
C |
13: 54,867,965 (GRCm39) |
W513R |
probably damaging |
Het |
Cts8 |
T |
C |
13: 61,399,392 (GRCm39) |
Y189C |
probably damaging |
Het |
Cyp2d10 |
T |
A |
15: 82,288,691 (GRCm39) |
T264S |
probably benign |
Het |
Dbt |
G |
A |
3: 116,339,763 (GRCm39) |
G384S |
probably benign |
Het |
Dnah8 |
G |
A |
17: 31,009,915 (GRCm39) |
V3769M |
probably damaging |
Het |
Eif3d |
A |
T |
15: 77,846,069 (GRCm39) |
N351K |
probably benign |
Het |
F5 |
T |
C |
1: 164,007,093 (GRCm39) |
M299T |
probably benign |
Het |
Fcamr |
G |
A |
1: 130,740,951 (GRCm39) |
V457M |
probably benign |
Het |
Heatr5b |
A |
G |
17: 79,072,866 (GRCm39) |
L1599P |
probably damaging |
Het |
Kl |
A |
T |
5: 150,904,252 (GRCm39) |
I335F |
possibly damaging |
Het |
Knop1 |
A |
G |
7: 118,452,021 (GRCm39) |
Y233H |
probably damaging |
Het |
Lhcgr |
T |
C |
17: 89,061,164 (GRCm39) |
|
probably benign |
Het |
Lypd11 |
A |
T |
7: 24,422,931 (GRCm39) |
L129H |
probably damaging |
Het |
Macrod2 |
A |
T |
2: 142,018,578 (GRCm39) |
N237I |
possibly damaging |
Het |
Myo7a |
T |
C |
7: 97,700,866 (GRCm39) |
S2168G |
probably benign |
Het |
Naxe |
T |
C |
3: 87,965,290 (GRCm39) |
I108V |
probably benign |
Het |
Ncbp1 |
T |
A |
4: 46,161,307 (GRCm39) |
W428R |
probably damaging |
Het |
Nxpe3 |
T |
C |
16: 55,664,595 (GRCm39) |
I542V |
probably damaging |
Het |
Phkb |
T |
A |
8: 86,684,216 (GRCm39) |
S424R |
probably benign |
Het |
Rgs20 |
C |
T |
1: 5,140,238 (GRCm39) |
V55I |
probably benign |
Het |
Ros1 |
T |
G |
10: 52,020,969 (GRCm39) |
T648P |
possibly damaging |
Het |
Rpgr |
T |
C |
X: 10,074,948 (GRCm39) |
I233V |
possibly damaging |
Het |
Slc25a31 |
T |
C |
3: 40,679,308 (GRCm39) |
S258P |
probably benign |
Het |
Soat1 |
A |
C |
1: 156,261,766 (GRCm39) |
V414G |
probably damaging |
Het |
St18 |
A |
T |
1: 6,903,818 (GRCm39) |
E693V |
probably damaging |
Het |
Svil |
T |
C |
18: 5,063,555 (GRCm39) |
V1029A |
probably benign |
Het |
Tnfaip3 |
C |
A |
10: 18,880,874 (GRCm39) |
V398L |
probably damaging |
Het |
Ubap1 |
A |
G |
4: 41,379,562 (GRCm39) |
T259A |
probably benign |
Het |
Wdr7 |
A |
G |
18: 64,060,398 (GRCm39) |
E1347G |
possibly damaging |
Het |
|
Other mutations in Dnajc16 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00495:Dnajc16
|
APN |
4 |
141,490,874 (GRCm39) |
splice site |
probably null |
|
IGL01503:Dnajc16
|
APN |
4 |
141,491,008 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL01919:Dnajc16
|
APN |
4 |
141,501,940 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02065:Dnajc16
|
APN |
4 |
141,504,244 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02544:Dnajc16
|
APN |
4 |
141,491,958 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03028:Dnajc16
|
APN |
4 |
141,495,043 (GRCm39) |
nonsense |
probably null |
|
PIT4418001:Dnajc16
|
UTSW |
4 |
141,498,260 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4585001:Dnajc16
|
UTSW |
4 |
141,491,996 (GRCm39) |
missense |
probably damaging |
1.00 |
R0071:Dnajc16
|
UTSW |
4 |
141,495,318 (GRCm39) |
missense |
probably benign |
|
R0415:Dnajc16
|
UTSW |
4 |
141,516,359 (GRCm39) |
nonsense |
probably null |
|
R0532:Dnajc16
|
UTSW |
4 |
141,516,320 (GRCm39) |
missense |
probably damaging |
1.00 |
R1418:Dnajc16
|
UTSW |
4 |
141,495,052 (GRCm39) |
nonsense |
probably null |
|
R2959:Dnajc16
|
UTSW |
4 |
141,493,856 (GRCm39) |
nonsense |
probably null |
|
R3025:Dnajc16
|
UTSW |
4 |
141,501,922 (GRCm39) |
missense |
probably benign |
|
R3796:Dnajc16
|
UTSW |
4 |
141,495,048 (GRCm39) |
missense |
probably benign |
|
R3854:Dnajc16
|
UTSW |
4 |
141,490,964 (GRCm39) |
nonsense |
probably null |
|
R3856:Dnajc16
|
UTSW |
4 |
141,490,964 (GRCm39) |
nonsense |
probably null |
|
R4661:Dnajc16
|
UTSW |
4 |
141,490,859 (GRCm39) |
missense |
probably damaging |
1.00 |
R4841:Dnajc16
|
UTSW |
4 |
141,501,936 (GRCm39) |
missense |
probably damaging |
1.00 |
R4842:Dnajc16
|
UTSW |
4 |
141,501,936 (GRCm39) |
missense |
probably damaging |
1.00 |
R5116:Dnajc16
|
UTSW |
4 |
141,495,280 (GRCm39) |
nonsense |
probably null |
|
R5126:Dnajc16
|
UTSW |
4 |
141,501,820 (GRCm39) |
missense |
probably benign |
0.01 |
R5140:Dnajc16
|
UTSW |
4 |
141,491,994 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5275:Dnajc16
|
UTSW |
4 |
141,495,239 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5295:Dnajc16
|
UTSW |
4 |
141,495,239 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5891:Dnajc16
|
UTSW |
4 |
141,502,703 (GRCm39) |
missense |
probably benign |
|
R6888:Dnajc16
|
UTSW |
4 |
141,504,303 (GRCm39) |
missense |
probably benign |
0.24 |
R7062:Dnajc16
|
UTSW |
4 |
141,494,001 (GRCm39) |
missense |
probably damaging |
1.00 |
R7441:Dnajc16
|
UTSW |
4 |
141,491,124 (GRCm39) |
missense |
probably damaging |
1.00 |
R7684:Dnajc16
|
UTSW |
4 |
141,501,879 (GRCm39) |
missense |
probably benign |
0.02 |
R8843:Dnajc16
|
UTSW |
4 |
141,492,002 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8924:Dnajc16
|
UTSW |
4 |
141,494,018 (GRCm39) |
nonsense |
probably null |
|
R9005:Dnajc16
|
UTSW |
4 |
141,491,945 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9053:Dnajc16
|
UTSW |
4 |
141,510,371 (GRCm39) |
missense |
probably benign |
0.28 |
R9550:Dnajc16
|
UTSW |
4 |
141,495,058 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Posted On |
2012-12-06 |