Incidental Mutation 'R3025:Dnajc16'
ID |
265795 |
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 |
040541-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.724)
|
Stock # |
R3025 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
141487500-141518242 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 141501922 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 303
(V303F)
|
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: V303F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000048714 Gene: ENSMUSG00000040697 AA Change: V303F
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ace |
T |
A |
11: 105,864,919 (GRCm39) |
|
probably null |
Het |
Akap6 |
A |
G |
12: 53,186,926 (GRCm39) |
T1447A |
probably benign |
Het |
Atp13a2 |
C |
T |
4: 140,721,659 (GRCm39) |
R250C |
probably damaging |
Het |
Cacna1a |
T |
A |
8: 85,306,854 (GRCm39) |
|
probably null |
Het |
Chd6 |
GATCAT |
GAT |
2: 160,808,472 (GRCm39) |
|
probably benign |
Het |
Cptp |
T |
C |
4: 155,951,678 (GRCm39) |
E5G |
possibly damaging |
Het |
Gm10842 |
T |
C |
11: 105,037,902 (GRCm39) |
S62P |
unknown |
Het |
Gm17509 |
T |
C |
13: 117,357,112 (GRCm39) |
|
probably benign |
Het |
Homer1 |
C |
T |
13: 93,538,582 (GRCm39) |
Q142* |
probably null |
Het |
Kcnb2 |
C |
A |
1: 15,781,059 (GRCm39) |
Q644K |
possibly damaging |
Het |
Map3k19 |
T |
C |
1: 127,766,290 (GRCm39) |
|
probably null |
Het |
Msh4 |
T |
A |
3: 153,569,128 (GRCm39) |
H621L |
probably damaging |
Het |
Ogfod1 |
A |
T |
8: 94,789,680 (GRCm39) |
E460D |
probably damaging |
Het |
Or6c65 |
T |
A |
10: 129,603,542 (GRCm39) |
F59Y |
probably damaging |
Het |
Or8k41 |
A |
T |
2: 86,314,083 (GRCm39) |
M1K |
probably null |
Het |
Rp1 |
G |
A |
1: 4,422,898 (GRCm39) |
R61W |
probably damaging |
Het |
Scaf4 |
A |
T |
16: 90,048,826 (GRCm39) |
H329Q |
unknown |
Het |
Sec61a1 |
A |
T |
6: 88,489,202 (GRCm39) |
D166E |
probably damaging |
Het |
Tars2 |
C |
T |
3: 95,654,952 (GRCm39) |
R63H |
possibly damaging |
Het |
Vmn1r57 |
A |
T |
7: 5,223,714 (GRCm39) |
K80* |
probably null |
Het |
Vmn2r106 |
A |
G |
17: 20,499,147 (GRCm39) |
W255R |
probably benign |
Het |
Wdr49 |
C |
G |
3: 75,240,663 (GRCm39) |
C402S |
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 |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTTGAACGCCTGACCCTTG -3'
(R):5'- AAATGAGTCATTCTCCCTTGTCCAG -3'
Sequencing Primer
(F):5'- GACCCTTGCAGTGCATATTTATG -3'
(R):5'- TCCAGTTTTTGTGCATAGGATATC -3'
|
Posted On |
2015-02-05 |