Incidental Mutation 'R2277:Dnajc28'
| ID |
242875 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnajc28
|
| Ensembl Gene |
ENSMUSG00000039763 |
| Gene Name |
DnaJ heat shock protein family (Hsp40) member C28 |
| Synonyms |
ORF28 |
| MMRRC Submission |
040276-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2277 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
91411142-91415914 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 91413755 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 187
(T187M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132288
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023684]
[ENSMUST00000049244]
[ENSMUST00000133731]
[ENSMUST00000143058]
[ENSMUST00000156713]
[ENSMUST00000169982]
[ENSMUST00000232289]
[ENSMUST00000232640]
|
| AlphaFold |
Q8VCE1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023684
|
| SMART Domains |
Protein: ENSMUSP00000023684
Gene: ENSMUSG00000022962
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GARS_N
|
3 |
104 |
6.4e-37 |
PFAM |
|
GARS_A
|
105 |
298 |
4.42e-132 |
SMART |
|
GARS_C
|
333 |
426 |
1.33e-44 |
SMART |
|
Pfam:AIRS
|
473 |
593 |
1.2e-17 |
PFAM |
|
Pfam:AIRS_C
|
606 |
777 |
9e-40 |
PFAM |
|
Pfam:Formyl_trans_N
|
808 |
988 |
3.4e-68 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049244
AA Change: T163M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000048113
Gene: ENSMUSG00000039763
AA Change: T163M
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
47 |
105 |
1.04e-11 |
SMART |
|
low complexity region
|
112 |
123 |
N/A |
INTRINSIC |
|
Pfam:DUF1992
|
203 |
342 |
4.7e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133731
|
| SMART Domains |
Protein: ENSMUSP00000118526
Gene: ENSMUSG00000039763
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
47 |
84 |
6.65e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138207
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000143058
AA Change: T187M
PolyPhen 2
Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000120318
Gene: ENSMUSG00000039763
AA Change: T187M
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
71 |
129 |
1.04e-11 |
SMART |
|
low complexity region
|
136 |
147 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156713
|
| SMART Domains |
Protein: ENSMUSP00000119272
Gene: ENSMUSG00000022962
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GARS_N
|
3 |
104 |
1.4e-40 |
PFAM |
|
GARS_A
|
105 |
298 |
4.42e-132 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169982
AA Change: T187M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132288
Gene: ENSMUSG00000039763
AA Change: T187M
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
71 |
129 |
1.04e-11 |
SMART |
|
low complexity region
|
136 |
147 |
N/A |
INTRINSIC |
|
Pfam:DUF1992
|
227 |
295 |
1.2e-24 |
PFAM |
|
coiled coil region
|
312 |
342 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232643
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232289
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232620
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232640
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DnaJ heat shock protein family. The encoded protein, which contains a conserved N-terminal DnaJ domain, is thought to play a role in protein folding or act as a molecular chaperone protein. [provided by RefSeq, Oct 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd13d |
T |
C |
19: 4,331,012 (GRCm39) |
H165R |
probably benign |
Het |
| Arhgap21 |
T |
C |
2: 20,868,037 (GRCm39) |
I829V |
possibly damaging |
Het |
| Atxn1 |
T |
C |
13: 45,710,544 (GRCm39) |
N796S |
probably damaging |
Het |
| Bdp1 |
C |
A |
13: 100,197,838 (GRCm39) |
S849I |
probably benign |
Het |
| Bdp1 |
T |
A |
13: 100,197,847 (GRCm39) |
E846V |
probably damaging |
Het |
| Cdh4 |
C |
A |
2: 179,439,317 (GRCm39) |
H155N |
possibly damaging |
Het |
| Cela3a |
T |
C |
4: 137,133,187 (GRCm39) |
I62V |
possibly damaging |
Het |
| Cr2 |
T |
C |
1: 194,839,676 (GRCm39) |
R960G |
possibly damaging |
Het |
| Ddx42 |
T |
A |
11: 106,133,765 (GRCm39) |
D580E |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 117,987,387 (GRCm39) |
K1308E |
possibly damaging |
Het |
| Gh |
T |
C |
11: 106,191,613 (GRCm39) |
E143G |
probably damaging |
Het |
| Hcn3 |
C |
A |
3: 89,055,168 (GRCm39) |
R693L |
probably benign |
Het |
| Hdlbp |
G |
A |
1: 93,335,900 (GRCm39) |
R1199* |
probably null |
Het |
| Hook2 |
C |
T |
8: 85,729,560 (GRCm39) |
Q667* |
probably null |
Het |
| Ibtk |
T |
C |
9: 85,585,204 (GRCm39) |
I1147V |
probably benign |
Het |
| Itpk1 |
T |
C |
12: 102,536,519 (GRCm39) |
T376A |
probably benign |
Het |
| Lars1 |
C |
T |
18: 42,368,567 (GRCm39) |
V425I |
probably benign |
Het |
| Lgi4 |
T |
G |
7: 30,760,037 (GRCm39) |
L78V |
probably damaging |
Het |
| Madd |
A |
T |
2: 90,974,028 (GRCm39) |
C1419S |
possibly damaging |
Het |
| Mamld1 |
ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCA |
ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCA |
X: 70,162,421 (GRCm39) |
|
probably benign |
Het |
| Mpp2 |
T |
C |
11: 101,955,127 (GRCm39) |
E166G |
probably damaging |
Het |
| Mrgprb5 |
A |
G |
7: 47,818,579 (GRCm39) |
L52P |
probably damaging |
Het |
| Nlrp2 |
T |
C |
7: 5,331,128 (GRCm39) |
T423A |
probably benign |
Het |
| Nphs1 |
T |
A |
7: 30,166,989 (GRCm39) |
L732* |
probably null |
Het |
| Pcdhb10 |
T |
C |
18: 37,545,677 (GRCm39) |
I251T |
possibly damaging |
Het |
| Plcg1 |
T |
A |
2: 160,597,725 (GRCm39) |
M789K |
possibly damaging |
Het |
| Pom121l2 |
T |
C |
13: 22,168,417 (GRCm39) |
I896T |
probably benign |
Het |
| Ptpn4 |
T |
C |
1: 119,612,321 (GRCm39) |
D24G |
probably damaging |
Het |
| Rbm28 |
T |
C |
6: 29,135,513 (GRCm39) |
|
probably null |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Rhebl1 |
A |
T |
15: 98,776,167 (GRCm39) |
D162E |
probably benign |
Het |
| Runx1t1 |
T |
C |
4: 13,771,501 (GRCm39) |
V15A |
probably benign |
Het |
| Serpina10 |
T |
A |
12: 103,593,002 (GRCm39) |
I291F |
probably benign |
Het |
| Slc23a2 |
A |
G |
2: 131,933,179 (GRCm39) |
I93T |
possibly damaging |
Het |
| Slc25a29 |
T |
C |
12: 108,792,852 (GRCm39) |
E242G |
probably benign |
Het |
| Sulf1 |
A |
C |
1: 12,867,018 (GRCm39) |
R67S |
probably benign |
Het |
| Syne2 |
A |
G |
12: 75,974,240 (GRCm39) |
E1146G |
possibly damaging |
Het |
| Tmem45a |
A |
T |
16: 56,643,882 (GRCm39) |
L89Q |
probably damaging |
Het |
| Top3a |
A |
C |
11: 60,636,700 (GRCm39) |
V655G |
possibly damaging |
Het |
| Ttc23l |
A |
G |
15: 10,523,678 (GRCm39) |
I347T |
possibly damaging |
Het |
|
| Other mutations in Dnajc28 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02878:Dnajc28
|
APN |
16 |
91,413,329 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1199:Dnajc28
|
UTSW |
16 |
91,415,530 (GRCm39) |
unclassified |
probably benign |
|
|
R2265:Dnajc28
|
UTSW |
16 |
91,413,200 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2266:Dnajc28
|
UTSW |
16 |
91,413,200 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2276:Dnajc28
|
UTSW |
16 |
91,413,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2278:Dnajc28
|
UTSW |
16 |
91,413,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2364:Dnajc28
|
UTSW |
16 |
91,413,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2366:Dnajc28
|
UTSW |
16 |
91,413,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2367:Dnajc28
|
UTSW |
16 |
91,413,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2447:Dnajc28
|
UTSW |
16 |
91,413,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3757:Dnajc28
|
UTSW |
16 |
91,413,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3890:Dnajc28
|
UTSW |
16 |
91,413,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4087:Dnajc28
|
UTSW |
16 |
91,413,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4088:Dnajc28
|
UTSW |
16 |
91,413,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4110:Dnajc28
|
UTSW |
16 |
91,413,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4112:Dnajc28
|
UTSW |
16 |
91,413,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4113:Dnajc28
|
UTSW |
16 |
91,413,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6372:Dnajc28
|
UTSW |
16 |
91,414,176 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6613:Dnajc28
|
UTSW |
16 |
91,413,246 (GRCm39) |
nonsense |
probably null |
|
|
R8061:Dnajc28
|
UTSW |
16 |
91,414,058 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8163:Dnajc28
|
UTSW |
16 |
91,413,795 (GRCm39) |
nonsense |
probably null |
|
|
R8165:Dnajc28
|
UTSW |
16 |
91,413,795 (GRCm39) |
nonsense |
probably null |
|
|
R8172:Dnajc28
|
UTSW |
16 |
91,413,795 (GRCm39) |
nonsense |
probably null |
|
|
R8174:Dnajc28
|
UTSW |
16 |
91,413,795 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Dnajc28
|
UTSW |
16 |
91,413,921 (GRCm39) |
missense |
probably benign |
0.25 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAGAAAATTTCTTCAGCGG -3'
(R):5'- GCTGTCCCATGCGATAAAAC -3'
Sequencing Primer
(F):5'- TTTCCCGCTGAGATTGTCAAAG -3'
(R):5'- TGCGATAAAACGGATGCATGCC -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation