Incidental Mutation 'IGL01503:Dnajc16'
| ID |
88953 |
| 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 |
4732437J24Rik, 2900037O03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.763)
|
| Stock # |
IGL01503
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
141760189-141790931 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 141763697 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 714
(T714I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048714
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038014]
[ENSMUST00000038161]
|
| AlphaFold |
Q80TN4 |
| PDB Structure |
Solution structure of the J domain of the pseudo DnaJ protein, mouse hypothetical mKIAA0962 [SOLUTION NMR]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038014
AA Change: T714I
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000048714
Gene: ENSMUSG00000040697
AA Change: T714I
| 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 |
probably benign
Transcript: ENSMUST00000038161
|
| SMART Domains |
Protein: ENSMUSP00000040853
Gene: ENSMUSG00000040706
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
62 |
N/A |
INTRINSIC |
|
Pfam:Arginase
|
77 |
351 |
9.8e-85 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110057P08Rik |
T |
A |
16: 89,174,869 (GRCm38) |
Y26* |
probably null |
Het |
| Arpc1a |
T |
C |
5: 145,096,154 (GRCm38) |
V91A |
probably damaging |
Het |
| Atp2a1 |
T |
A |
7: 126,448,578 (GRCm38) |
I687F |
probably damaging |
Het |
| B3gnt5 |
A |
C |
16: 19,769,781 (GRCm38) |
Y250S |
probably damaging |
Het |
| Brip1 |
A |
G |
11: 86,061,877 (GRCm38) |
V1026A |
probably benign |
Het |
| C1s2 |
T |
C |
6: 124,625,653 (GRCm38) |
D527G |
probably damaging |
Het |
| Chrna5 |
T |
A |
9: 54,998,171 (GRCm38) |
|
probably benign |
Het |
| Cltc |
C |
A |
11: 86,695,700 (GRCm38) |
|
probably benign |
Het |
| Dgkh |
T |
G |
14: 78,616,270 (GRCm38) |
I439L |
possibly damaging |
Het |
| Fam13a |
A |
T |
6: 58,956,080 (GRCm38) |
I349N |
probably damaging |
Het |
| Fig4 |
C |
T |
10: 41,256,518 (GRCm38) |
D431N |
probably benign |
Het |
| Gabra4 |
A |
T |
5: 71,641,086 (GRCm38) |
N183K |
possibly damaging |
Het |
| Ggt5 |
C |
T |
10: 75,610,110 (GRCm38) |
|
probably benign |
Het |
| Gm436 |
T |
A |
4: 144,674,567 (GRCm38) |
I116F |
probably damaging |
Het |
| Hdac6 |
A |
G |
X: 7,932,179 (GRCm38) |
L798P |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,318,651 (GRCm38) |
V2030A |
probably benign |
Het |
| Hecw2 |
A |
G |
1: 53,826,961 (GRCm38) |
Y1514H |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,605,072 (GRCm38) |
D4451G |
probably benign |
Het |
| Krtcap3 |
T |
C |
5: 31,251,823 (GRCm38) |
|
probably benign |
Het |
| Ltn1 |
A |
T |
16: 87,420,807 (GRCm38) |
|
probably benign |
Het |
| Mapkapk2 |
T |
C |
1: 131,058,762 (GRCm38) |
M1V |
probably null |
Het |
| Mical3 |
A |
T |
6: 120,958,576 (GRCm38) |
I1663N |
probably benign |
Het |
| Mvp |
G |
T |
7: 127,001,961 (GRCm38) |
|
probably benign |
Het |
| Myo5c |
A |
G |
9: 75,263,042 (GRCm38) |
I485V |
probably damaging |
Het |
| N4bp2 |
T |
A |
5: 65,803,547 (GRCm38) |
C520* |
probably null |
Het |
| Nos2 |
A |
G |
11: 78,945,863 (GRCm38) |
|
probably benign |
Het |
| Ogdh |
G |
A |
11: 6,355,069 (GRCm38) |
V925M |
probably damaging |
Het |
| Pde2a |
T |
A |
7: 101,501,936 (GRCm38) |
|
probably benign |
Het |
| Plpp6 |
A |
G |
19: 28,964,879 (GRCm38) |
*293W |
probably null |
Het |
| Pole |
T |
A |
5: 110,303,884 (GRCm38) |
I864K |
probably damaging |
Het |
| Rexo4 |
A |
T |
2: 26,960,633 (GRCm38) |
I239N |
probably benign |
Het |
| Scn1a |
T |
A |
2: 66,322,343 (GRCm38) |
I748F |
probably damaging |
Het |
| Sfmbt2 |
A |
T |
2: 10,579,354 (GRCm38) |
R841* |
probably null |
Het |
| Sh3bp5l |
A |
G |
11: 58,338,001 (GRCm38) |
N100S |
probably damaging |
Het |
| Spic |
T |
A |
10: 88,675,761 (GRCm38) |
D211V |
probably damaging |
Het |
| Stab2 |
A |
G |
10: 86,940,613 (GRCm38) |
|
probably benign |
Het |
| Tshr |
A |
G |
12: 91,511,934 (GRCm38) |
Y83C |
probably damaging |
Het |
| Vsir |
A |
G |
10: 60,368,594 (GRCm38) |
E172G |
probably damaging |
Het |
| Wwp2 |
T |
C |
8: 107,549,781 (GRCm38) |
S508P |
probably damaging |
Het |
|
| Other mutations in Dnajc16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00495:Dnajc16
|
APN |
4 |
141,763,563 (GRCm38) |
splice site |
probably null |
|
|
IGL00840:Dnajc16
|
APN |
4 |
141,768,003 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01919:Dnajc16
|
APN |
4 |
141,774,629 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL02065:Dnajc16
|
APN |
4 |
141,776,933 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02544:Dnajc16
|
APN |
4 |
141,764,647 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03028:Dnajc16
|
APN |
4 |
141,767,732 (GRCm38) |
nonsense |
probably null |
|
|
PIT4418001:Dnajc16
|
UTSW |
4 |
141,770,949 (GRCm38) |
missense |
probably damaging |
0.99 |
|
PIT4585001:Dnajc16
|
UTSW |
4 |
141,764,685 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0071:Dnajc16
|
UTSW |
4 |
141,768,007 (GRCm38) |
missense |
probably benign |
|
|
R0415:Dnajc16
|
UTSW |
4 |
141,789,048 (GRCm38) |
nonsense |
probably null |
|
|
R0532:Dnajc16
|
UTSW |
4 |
141,789,009 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1418:Dnajc16
|
UTSW |
4 |
141,767,741 (GRCm38) |
nonsense |
probably null |
|
|
R2959:Dnajc16
|
UTSW |
4 |
141,766,545 (GRCm38) |
nonsense |
probably null |
|
|
R3025:Dnajc16
|
UTSW |
4 |
141,774,611 (GRCm38) |
missense |
probably benign |
|
|
R3796:Dnajc16
|
UTSW |
4 |
141,767,737 (GRCm38) |
missense |
probably benign |
|
|
R3854:Dnajc16
|
UTSW |
4 |
141,763,653 (GRCm38) |
nonsense |
probably null |
|
|
R3856:Dnajc16
|
UTSW |
4 |
141,763,653 (GRCm38) |
nonsense |
probably null |
|
|
R4661:Dnajc16
|
UTSW |
4 |
141,763,548 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4841:Dnajc16
|
UTSW |
4 |
141,774,625 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4842:Dnajc16
|
UTSW |
4 |
141,774,625 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5116:Dnajc16
|
UTSW |
4 |
141,767,969 (GRCm38) |
nonsense |
probably null |
|
|
R5126:Dnajc16
|
UTSW |
4 |
141,774,509 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5140:Dnajc16
|
UTSW |
4 |
141,764,683 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R5275:Dnajc16
|
UTSW |
4 |
141,767,928 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R5295:Dnajc16
|
UTSW |
4 |
141,767,928 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R5891:Dnajc16
|
UTSW |
4 |
141,775,392 (GRCm38) |
missense |
probably benign |
|
|
R6888:Dnajc16
|
UTSW |
4 |
141,776,992 (GRCm38) |
missense |
probably benign |
0.24 |
|
R7062:Dnajc16
|
UTSW |
4 |
141,766,690 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7441:Dnajc16
|
UTSW |
4 |
141,763,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7684:Dnajc16
|
UTSW |
4 |
141,774,568 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8843:Dnajc16
|
UTSW |
4 |
141,764,691 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R8924:Dnajc16
|
UTSW |
4 |
141,766,707 (GRCm38) |
nonsense |
probably null |
|
|
R9005:Dnajc16
|
UTSW |
4 |
141,764,634 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9053:Dnajc16
|
UTSW |
4 |
141,783,060 (GRCm38) |
missense |
probably benign |
0.28 |
|
R9550:Dnajc16
|
UTSW |
4 |
141,767,747 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2013-12-03 |
Incidental Mutation