Incidental Mutation 'R6613:Dnajc28'
| ID |
523805 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnajc28
|
| Ensembl Gene |
ENSMUSG00000039763 |
| Gene Name |
DnaJ heat shock protein family (Hsp40) member C28 |
| Synonyms |
ORF28 |
| MMRRC Submission |
044736-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6613 (G1)
|
| Quality Score |
129.008 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
91411142-91415914 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 91413246 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 357
(E357*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132288
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023684]
[ENSMUST00000049244]
[ENSMUST00000133731]
[ENSMUST00000143058]
[ENSMUST00000169982]
|
| 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 null
Transcript: ENSMUST00000049244
AA Change: E333*
|
| SMART Domains |
Protein: ENSMUSP00000048113
Gene: ENSMUSG00000039763
AA Change: E333*
| 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 |
probably benign
Transcript: ENSMUST00000143058
|
| SMART Domains |
Protein: ENSMUSP00000120318
Gene: ENSMUSG00000039763
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
71 |
129 |
1.04e-11 |
SMART |
|
low complexity region
|
136 |
147 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000169982
AA Change: E357*
|
| SMART Domains |
Protein: ENSMUSP00000132288
Gene: ENSMUSG00000039763
AA Change: E357*
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.9%
|
| Validation Efficiency |
97% (37/38) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano2 |
G |
A |
6: 125,783,619 (GRCm39) |
|
probably null |
Het |
| Arfgef1 |
A |
T |
1: 10,264,621 (GRCm39) |
I475N |
possibly damaging |
Het |
| Atg16l2 |
C |
T |
7: 100,939,788 (GRCm39) |
|
probably null |
Het |
| Atp2c2 |
T |
G |
8: 120,482,760 (GRCm39) |
L874R |
probably damaging |
Het |
| C2cd3 |
T |
A |
7: 100,044,448 (GRCm39) |
S343R |
possibly damaging |
Het |
| C4b |
A |
T |
17: 34,952,539 (GRCm39) |
S1167T |
probably damaging |
Het |
| Cacna1i |
G |
A |
15: 80,205,460 (GRCm39) |
G139S |
probably damaging |
Het |
| Chil6 |
A |
T |
3: 106,297,191 (GRCm39) |
F317I |
probably benign |
Het |
| Cngb1 |
A |
T |
8: 95,992,638 (GRCm39) |
V199E |
possibly damaging |
Het |
| Dcn |
A |
T |
10: 97,330,902 (GRCm39) |
T79S |
probably benign |
Het |
| Dcxr |
A |
G |
11: 120,617,832 (GRCm39) |
V48A |
probably benign |
Het |
| Dnajc13 |
A |
T |
9: 104,091,076 (GRCm39) |
D668E |
probably benign |
Het |
| Dock7 |
A |
G |
4: 98,866,197 (GRCm39) |
Y1198H |
probably damaging |
Het |
| Flot1 |
A |
G |
17: 36,136,703 (GRCm39) |
D167G |
probably damaging |
Het |
| Gpn1 |
T |
C |
5: 31,654,696 (GRCm39) |
|
probably null |
Het |
| Hyou1 |
A |
T |
9: 44,293,795 (GRCm39) |
I242F |
probably damaging |
Het |
| Igfbpl1 |
T |
C |
4: 45,813,447 (GRCm39) |
N256S |
probably benign |
Het |
| Kif20b |
C |
T |
19: 34,914,384 (GRCm39) |
Q390* |
probably null |
Het |
| Lhfpl2 |
T |
A |
13: 94,311,003 (GRCm39) |
F91Y |
probably damaging |
Het |
| Magi1 |
G |
A |
6: 93,722,654 (GRCm39) |
T408I |
probably damaging |
Het |
| Mttp |
T |
C |
3: 137,814,839 (GRCm39) |
N479D |
probably damaging |
Het |
| Myom3 |
T |
C |
4: 135,539,770 (GRCm39) |
V1339A |
possibly damaging |
Het |
| Nin |
T |
C |
12: 70,077,728 (GRCm39) |
K1733E |
probably damaging |
Het |
| Or5k1 |
C |
A |
16: 58,617,894 (GRCm39) |
C105F |
probably damaging |
Het |
| Pdzrn4 |
T |
C |
15: 92,575,455 (GRCm39) |
I287T |
probably damaging |
Het |
| Ptprt |
A |
G |
2: 161,372,367 (GRCm39) |
V1435A |
probably damaging |
Het |
| Rpap3 |
T |
C |
15: 97,579,722 (GRCm39) |
|
probably null |
Het |
| Scin |
A |
G |
12: 40,129,714 (GRCm39) |
Y360H |
probably benign |
Het |
| Sfxn5 |
A |
G |
6: 85,246,890 (GRCm39) |
|
probably null |
Het |
| Sgo1 |
A |
G |
17: 53,986,085 (GRCm39) |
S369P |
probably damaging |
Het |
| Skil |
T |
A |
3: 31,152,029 (GRCm39) |
C184S |
probably null |
Het |
| Srcin1 |
A |
G |
11: 97,424,653 (GRCm39) |
M607T |
possibly damaging |
Het |
| Ssc5d |
C |
T |
7: 4,936,292 (GRCm39) |
P513S |
possibly damaging |
Het |
| Trip10 |
A |
G |
17: 57,562,197 (GRCm39) |
|
probably null |
Het |
| Vmn2r114 |
T |
A |
17: 23,529,220 (GRCm39) |
Q294L |
possibly damaging |
Het |
| Zc3h12c |
A |
G |
9: 52,027,412 (GRCm39) |
V650A |
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 |
|
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 |
|
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 |
|
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'- ACTCAAAACTGACCAGAGTGG -3'
(R):5'- ATCGAGCAACTCCGAGAAGC -3'
Sequencing Primer
(F):5'- CTGACCAGAGTGGAAAATGATCGTG -3'
(R):5'- CCGAGAAGCGCTTTTAATGTC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation