Incidental Mutation 'R4088:Dnajc28'
ID |
317487 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnajc28
|
Ensembl Gene |
ENSMUSG00000039763 |
Gene Name |
DnaJ heat shock protein family (Hsp40) member C28 |
Synonyms |
ORF28 |
MMRRC Submission |
040981-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4088 (G1)
|
Quality Score |
225 |
Status
|
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: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
96% (55/57) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430110L20Rik |
T |
C |
1: 181,055,274 (GRCm39) |
|
noncoding transcript |
Het |
Alox12b |
G |
T |
11: 69,049,211 (GRCm39) |
V87L |
probably benign |
Het |
Arsk |
T |
G |
13: 76,246,533 (GRCm39) |
N32T |
probably benign |
Het |
Baz1b |
T |
A |
5: 135,245,794 (GRCm39) |
N414K |
probably damaging |
Het |
Cacna1e |
A |
T |
1: 154,287,929 (GRCm39) |
|
probably null |
Het |
Cdc73 |
A |
G |
1: 143,484,252 (GRCm39) |
|
probably benign |
Het |
Cdhr2 |
A |
G |
13: 54,865,701 (GRCm39) |
D233G |
probably null |
Het |
Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
Col4a4 |
T |
A |
1: 82,501,643 (GRCm39) |
Y370F |
unknown |
Het |
Cyp2b9 |
T |
C |
7: 25,872,881 (GRCm39) |
L8P |
probably damaging |
Het |
Ddx4 |
A |
G |
13: 112,750,295 (GRCm39) |
V386A |
probably benign |
Het |
Dnajc6 |
T |
A |
4: 101,496,593 (GRCm39) |
V920E |
probably damaging |
Het |
Eef2kmt |
A |
T |
16: 5,070,899 (GRCm39) |
I50N |
probably damaging |
Het |
Esyt3 |
T |
C |
9: 99,206,290 (GRCm39) |
M40V |
probably benign |
Het |
Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
Gpr26 |
G |
T |
7: 131,568,805 (GRCm39) |
C50F |
probably benign |
Het |
Hmcn1 |
A |
G |
1: 150,578,967 (GRCm39) |
I1993T |
possibly damaging |
Het |
Hsdl2 |
T |
A |
4: 59,610,636 (GRCm39) |
L211Q |
unknown |
Het |
Khdrbs2 |
A |
G |
1: 32,372,605 (GRCm39) |
E93G |
probably damaging |
Het |
Kif13b |
T |
C |
14: 65,004,904 (GRCm39) |
|
probably null |
Het |
Kif15 |
T |
A |
9: 122,815,254 (GRCm39) |
L423I |
probably benign |
Het |
Kmt2c |
A |
G |
5: 25,492,711 (GRCm39) |
V834A |
probably benign |
Het |
Lama3 |
T |
A |
18: 12,637,365 (GRCm39) |
Y28* |
probably null |
Het |
Map4k2 |
A |
T |
19: 6,403,186 (GRCm39) |
H763L |
probably damaging |
Het |
Mrtfb |
T |
C |
16: 13,202,064 (GRCm39) |
F120S |
probably damaging |
Het |
Ndufs3 |
C |
T |
2: 90,728,689 (GRCm39) |
|
probably benign |
Het |
Nfasc |
A |
T |
1: 132,523,329 (GRCm39) |
V887E |
probably damaging |
Het |
Npsr1 |
G |
A |
9: 24,225,065 (GRCm39) |
E358K |
possibly damaging |
Het |
Nrcam |
T |
C |
12: 44,618,985 (GRCm39) |
L828P |
possibly damaging |
Het |
Oprm1 |
T |
C |
10: 6,780,234 (GRCm39) |
Y299H |
probably damaging |
Het |
Or1j15 |
T |
A |
2: 36,459,030 (GRCm39) |
L140H |
probably damaging |
Het |
Osbpl8 |
T |
C |
10: 111,125,651 (GRCm39) |
V777A |
possibly damaging |
Het |
Pcnt |
T |
C |
10: 76,263,848 (GRCm39) |
E372G |
probably damaging |
Het |
Plekhh2 |
T |
C |
17: 84,925,427 (GRCm39) |
V1408A |
probably benign |
Het |
Sbk2 |
T |
C |
7: 4,960,627 (GRCm39) |
Y181C |
probably damaging |
Het |
Sf1 |
G |
A |
19: 6,418,470 (GRCm39) |
|
probably null |
Het |
Slc26a9 |
A |
G |
1: 131,695,587 (GRCm39) |
E765G |
possibly damaging |
Het |
Stab2 |
A |
G |
10: 86,758,049 (GRCm39) |
L1073P |
probably damaging |
Het |
Sypl2 |
A |
G |
3: 108,124,992 (GRCm39) |
I123T |
possibly damaging |
Het |
Taar3 |
A |
G |
10: 23,825,757 (GRCm39) |
D101G |
possibly damaging |
Het |
Thsd4 |
T |
C |
9: 59,904,505 (GRCm39) |
R204G |
probably benign |
Het |
Traf3ip3 |
A |
G |
1: 192,863,628 (GRCm39) |
V414A |
probably damaging |
Het |
Trim14 |
T |
A |
4: 46,523,709 (GRCm39) |
T110S |
probably benign |
Het |
Trim65 |
G |
A |
11: 116,017,305 (GRCm39) |
Q386* |
probably null |
Het |
Ttn |
G |
A |
2: 76,748,114 (GRCm39) |
Q4312* |
probably null |
Het |
Ubtfl1 |
T |
C |
9: 18,321,264 (GRCm39) |
V264A |
probably damaging |
Het |
Vmn1r58 |
C |
A |
7: 5,413,654 (GRCm39) |
W192L |
probably damaging |
Het |
Washc5 |
C |
A |
15: 59,211,711 (GRCm39) |
C969F |
probably damaging |
Het |
Zdhhc14 |
A |
G |
17: 5,777,131 (GRCm39) |
K296R |
probably benign |
Het |
Zfp281 |
T |
A |
1: 136,553,859 (GRCm39) |
I279N |
probably damaging |
Het |
Zfp9 |
G |
T |
6: 118,441,730 (GRCm39) |
P311T |
probably 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 |
R2277: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 |
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 |
2015-05-15 |