Incidental Mutation 'R5295:Dnajc16'
ID |
405351 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnajc16
|
Ensembl Gene |
ENSMUSG00000040697 |
Gene Name |
DnaJ heat shock protein family (Hsp40) member C16 |
Synonyms |
2900037O03Rik, 4732437J24Rik |
MMRRC Submission |
042878-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.724)
|
Stock # |
R5295 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
141487500-141518242 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 141495239 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 493
(E493G)
|
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 |
possibly damaging
Transcript: ENSMUST00000038014
AA Change: E493G
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000048714 Gene: ENSMUSG00000040697 AA Change: E493G
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
|
Meta Mutation Damage Score |
0.2307 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alpk2 |
C |
T |
18: 65,438,109 (GRCm39) |
E1095K |
probably damaging |
Het |
Alpl |
T |
C |
4: 137,476,919 (GRCm39) |
T245A |
probably benign |
Het |
Ank2 |
T |
C |
3: 126,825,832 (GRCm39) |
H378R |
probably damaging |
Het |
Arhgef1 |
G |
A |
7: 24,618,777 (GRCm39) |
|
probably null |
Het |
Atp5f1c |
T |
C |
2: 10,073,544 (GRCm39) |
R10G |
possibly damaging |
Het |
Cbln3 |
T |
C |
14: 56,120,920 (GRCm39) |
|
probably null |
Het |
Ccr10 |
C |
T |
11: 101,065,111 (GRCm39) |
V140M |
possibly damaging |
Het |
Cep135 |
T |
A |
5: 76,741,051 (GRCm39) |
H42Q |
possibly damaging |
Het |
Commd5 |
C |
A |
15: 76,785,152 (GRCm39) |
T183K |
possibly damaging |
Het |
Ears2 |
T |
C |
7: 121,647,421 (GRCm39) |
R288G |
probably damaging |
Het |
Elovl4 |
G |
A |
9: 83,662,714 (GRCm39) |
P273L |
possibly damaging |
Het |
Fam186b |
T |
A |
15: 99,181,755 (GRCm39) |
I148F |
probably damaging |
Het |
Fryl |
T |
C |
5: 73,270,134 (GRCm39) |
Y79C |
probably damaging |
Het |
Gad1-ps |
A |
G |
10: 99,280,751 (GRCm39) |
|
noncoding transcript |
Het |
Gm14325 |
G |
A |
2: 177,474,777 (GRCm39) |
H102Y |
possibly damaging |
Het |
Ighv1-77 |
T |
A |
12: 115,825,528 (GRCm39) |
S104C |
probably damaging |
Het |
Kcnv1 |
T |
C |
15: 44,977,987 (GRCm39) |
D17G |
unknown |
Het |
Lmtk3 |
G |
A |
7: 45,440,722 (GRCm39) |
D243N |
probably damaging |
Het |
Lrrc7 |
T |
A |
3: 157,876,376 (GRCm39) |
K571N |
probably damaging |
Het |
Lsm7 |
T |
C |
10: 80,690,454 (GRCm39) |
E32G |
probably damaging |
Het |
Ly6f |
A |
G |
15: 75,143,488 (GRCm39) |
Q65R |
probably benign |
Het |
Perm1 |
T |
C |
4: 156,301,975 (GRCm39) |
L173P |
probably benign |
Het |
Plvap |
T |
C |
8: 71,964,314 (GRCm39) |
Q16R |
probably benign |
Het |
Prb1c |
T |
G |
6: 132,338,840 (GRCm39) |
Q126P |
unknown |
Het |
Prl7d1 |
A |
T |
13: 27,893,230 (GRCm39) |
V227D |
probably damaging |
Het |
Prss54 |
T |
C |
8: 96,291,106 (GRCm39) |
T165A |
probably damaging |
Het |
Psrc1 |
A |
G |
3: 108,293,675 (GRCm39) |
I195V |
probably benign |
Het |
Rnf123 |
AT |
ATT |
9: 107,941,202 (GRCm39) |
|
probably null |
Het |
Rnf213 |
A |
T |
11: 119,331,642 (GRCm39) |
T2284S |
probably benign |
Het |
Serpina3c |
T |
C |
12: 104,114,637 (GRCm39) |
E333G |
probably damaging |
Het |
Serpinb6c |
A |
G |
13: 34,077,800 (GRCm39) |
F190S |
probably damaging |
Het |
Sfmbt1 |
G |
A |
14: 30,495,986 (GRCm39) |
D90N |
probably damaging |
Het |
Tdh |
T |
C |
14: 63,733,558 (GRCm39) |
Y110C |
probably damaging |
Het |
Tdrd9 |
T |
A |
12: 112,018,346 (GRCm39) |
L1255* |
probably null |
Het |
Trim41 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCC |
TTCCTCCTCCTCCTCCTCCTCCTCC |
11: 48,707,084 (GRCm39) |
|
probably benign |
Het |
Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
Zbtb2 |
T |
C |
10: 4,318,508 (GRCm39) |
K506R |
probably damaging |
Het |
Zmiz1 |
T |
C |
14: 25,656,771 (GRCm39) |
L800P |
probably damaging |
Het |
Znhit6 |
A |
G |
3: 145,306,248 (GRCm39) |
D251G |
probably benign |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCGTCCTACCAGTTACTGTG -3'
(R):5'- GGCTCAAGCTCTTGATCCTC -3'
Sequencing Primer
(F):5'- TGAAGCAGGCTCTCCCAGAAG -3'
(R):5'- AAGCTCTTGATCCTCTTAACCTCAG -3'
|
Posted On |
2016-07-22 |