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 |
2900037O03Rik, 4732437J24Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.724)
|
Stock # |
IGL01503
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
141487500-141518242 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 141491008 bp (GRCm39)
|
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: 88,971,757 (GRCm39) |
Y26* |
probably null |
Het |
Aadacl4fm4 |
T |
A |
4: 144,401,137 (GRCm39) |
I116F |
probably damaging |
Het |
Arpc1a |
T |
C |
5: 145,032,964 (GRCm39) |
V91A |
probably damaging |
Het |
Atp2a1 |
T |
A |
7: 126,047,750 (GRCm39) |
I687F |
probably damaging |
Het |
B3gnt5 |
A |
C |
16: 19,588,531 (GRCm39) |
Y250S |
probably damaging |
Het |
Brip1 |
A |
G |
11: 85,952,703 (GRCm39) |
V1026A |
probably benign |
Het |
C1s2 |
T |
C |
6: 124,602,612 (GRCm39) |
D527G |
probably damaging |
Het |
Chrna5 |
T |
A |
9: 54,905,455 (GRCm39) |
|
probably benign |
Het |
Cltc |
C |
A |
11: 86,586,526 (GRCm39) |
|
probably benign |
Het |
Dgkh |
T |
G |
14: 78,853,710 (GRCm39) |
I439L |
possibly damaging |
Het |
Fam13a |
A |
T |
6: 58,933,065 (GRCm39) |
I349N |
probably damaging |
Het |
Fig4 |
C |
T |
10: 41,132,514 (GRCm39) |
D431N |
probably benign |
Het |
Gabra4 |
A |
T |
5: 71,798,429 (GRCm39) |
N183K |
possibly damaging |
Het |
Ggt5 |
C |
T |
10: 75,445,944 (GRCm39) |
|
probably benign |
Het |
Hdac6 |
A |
G |
X: 7,798,418 (GRCm39) |
L798P |
probably damaging |
Het |
Hectd4 |
T |
C |
5: 121,456,714 (GRCm39) |
V2030A |
probably benign |
Het |
Hecw2 |
A |
G |
1: 53,866,120 (GRCm39) |
Y1514H |
probably damaging |
Het |
Hmcn1 |
T |
C |
1: 150,480,823 (GRCm39) |
D4451G |
probably benign |
Het |
Krtcap3 |
T |
C |
5: 31,409,167 (GRCm39) |
|
probably benign |
Het |
Ltn1 |
A |
T |
16: 87,217,695 (GRCm39) |
|
probably benign |
Het |
Mapkapk2 |
T |
C |
1: 130,986,499 (GRCm39) |
M1V |
probably null |
Het |
Mical3 |
A |
T |
6: 120,935,537 (GRCm39) |
I1663N |
probably benign |
Het |
Mvp |
G |
T |
7: 126,601,133 (GRCm39) |
|
probably benign |
Het |
Myo5c |
A |
G |
9: 75,170,324 (GRCm39) |
I485V |
probably damaging |
Het |
N4bp2 |
T |
A |
5: 65,960,890 (GRCm39) |
C520* |
probably null |
Het |
Nos2 |
A |
G |
11: 78,836,689 (GRCm39) |
|
probably benign |
Het |
Ogdh |
G |
A |
11: 6,305,069 (GRCm39) |
V925M |
probably damaging |
Het |
Pde2a |
T |
A |
7: 101,151,143 (GRCm39) |
|
probably benign |
Het |
Plpp6 |
A |
G |
19: 28,942,279 (GRCm39) |
*293W |
probably null |
Het |
Pole |
T |
A |
5: 110,451,750 (GRCm39) |
I864K |
probably damaging |
Het |
Rexo4 |
A |
T |
2: 26,850,645 (GRCm39) |
I239N |
probably benign |
Het |
Scn1a |
T |
A |
2: 66,152,687 (GRCm39) |
I748F |
probably damaging |
Het |
Sfmbt2 |
A |
T |
2: 10,584,165 (GRCm39) |
R841* |
probably null |
Het |
Sh3bp5l |
A |
G |
11: 58,228,827 (GRCm39) |
N100S |
probably damaging |
Het |
Spic |
T |
A |
10: 88,511,623 (GRCm39) |
D211V |
probably damaging |
Het |
Stab2 |
A |
G |
10: 86,776,477 (GRCm39) |
|
probably benign |
Het |
Tshr |
A |
G |
12: 91,478,708 (GRCm39) |
Y83C |
probably damaging |
Het |
Vsir |
A |
G |
10: 60,204,373 (GRCm39) |
E172G |
probably damaging |
Het |
Wwp2 |
T |
C |
8: 108,276,413 (GRCm39) |
S508P |
probably 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 |
|
IGL00840:Dnajc16
|
APN |
4 |
141,495,314 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2013-12-03 |