Incidental Mutation 'IGL01919:Dnajc16'
ID |
180057 |
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 # |
IGL01919
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
141487500-141518242 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 141501940 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 297
(S297P)
|
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 benign
Transcript: ENSMUST00000038014
AA Change: S297P
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000048714 Gene: ENSMUSG00000040697 AA Change: S297P
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700062C07Rik |
A |
G |
18: 24,608,580 (GRCm39) |
|
probably null |
Het |
Alms1 |
T |
C |
6: 85,604,986 (GRCm39) |
F2212S |
possibly damaging |
Het |
Anpep |
T |
C |
7: 79,475,098 (GRCm39) |
I155V |
possibly damaging |
Het |
Aoc1 |
G |
A |
6: 48,885,223 (GRCm39) |
V653M |
probably damaging |
Het |
Arl8b |
T |
C |
6: 108,798,518 (GRCm39) |
|
probably benign |
Het |
Bax |
A |
C |
7: 45,115,552 (GRCm39) |
|
probably null |
Het |
Cpne7 |
G |
A |
8: 123,852,382 (GRCm39) |
E195K |
probably damaging |
Het |
Csmd3 |
A |
G |
15: 47,539,168 (GRCm39) |
I2330T |
possibly damaging |
Het |
Farp2 |
A |
G |
1: 93,504,155 (GRCm39) |
K311E |
probably damaging |
Het |
Fhad1 |
A |
G |
4: 141,691,906 (GRCm39) |
L410P |
probably damaging |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm12185 |
T |
C |
11: 48,798,886 (GRCm39) |
T536A |
possibly damaging |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Hydin |
C |
T |
8: 111,245,806 (GRCm39) |
T2173I |
possibly damaging |
Het |
Kpnb1 |
A |
G |
11: 97,055,556 (GRCm39) |
V783A |
probably benign |
Het |
Krt1 |
A |
G |
15: 101,754,811 (GRCm39) |
V509A |
unknown |
Het |
Lrwd1 |
A |
T |
5: 136,164,729 (GRCm39) |
L26* |
probably null |
Het |
Mal2 |
T |
A |
15: 54,451,728 (GRCm39) |
W50R |
probably damaging |
Het |
Map3k21 |
A |
T |
8: 126,668,871 (GRCm39) |
E819V |
probably damaging |
Het |
Mrgprx3-ps |
T |
C |
7: 46,959,959 (GRCm39) |
T11A |
probably benign |
Het |
Mroh2b |
T |
C |
15: 4,953,170 (GRCm39) |
F635L |
probably benign |
Het |
Mylip |
G |
A |
13: 45,562,178 (GRCm39) |
E327K |
probably damaging |
Het |
Nfix |
T |
C |
8: 85,453,103 (GRCm39) |
D308G |
probably damaging |
Het |
Or1l8 |
G |
A |
2: 36,817,824 (GRCm39) |
Q101* |
probably null |
Het |
Or7e166 |
G |
A |
9: 19,624,638 (GRCm39) |
V172I |
probably benign |
Het |
Psma6 |
A |
G |
12: 55,454,254 (GRCm39) |
E26G |
probably damaging |
Het |
Rgs16 |
T |
A |
1: 153,617,804 (GRCm39) |
S105T |
probably damaging |
Het |
Slc25a23 |
T |
A |
17: 57,354,291 (GRCm39) |
N372Y |
possibly damaging |
Het |
Slc35e2 |
A |
G |
4: 155,697,187 (GRCm39) |
M234V |
probably benign |
Het |
Tbc1d8 |
A |
G |
1: 39,431,334 (GRCm39) |
V346A |
probably damaging |
Het |
Tgfb1i1 |
C |
T |
7: 127,847,654 (GRCm39) |
|
probably benign |
Het |
Triml2 |
A |
C |
8: 43,643,349 (GRCm39) |
T177P |
probably damaging |
Het |
Uba6 |
T |
C |
5: 86,267,245 (GRCm39) |
T959A |
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
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 |
IGL01503:Dnajc16
|
APN |
4 |
141,491,008 (GRCm39) |
missense |
possibly damaging |
0.65 |
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 |
2014-05-07 |