Incidental Mutation 'R8172:Dnajc28'
| ID |
634210 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnajc28
|
| Ensembl Gene |
ENSMUSG00000039763 |
| Gene Name |
DnaJ heat shock protein family (Hsp40) member C28 |
| Synonyms |
ORF28 |
| MMRRC Submission |
067598-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8172 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
91411142-91415914 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 91413795 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 150
(R150*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048113
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023684]
[ENSMUST00000049244]
[ENSMUST00000133731]
[ENSMUST00000143058]
[ENSMUST00000156713]
[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: R150*
|
| SMART Domains |
Protein: ENSMUSP00000048113
Gene: ENSMUSG00000039763
AA Change: R150*
| 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 |
probably null
Transcript: ENSMUST00000143058
AA Change: R174*
|
| SMART Domains |
Protein: ENSMUSP00000120318
Gene: ENSMUSG00000039763
AA Change: R174*
| 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 null
Transcript: ENSMUST00000169982
AA Change: R174*
|
| SMART Domains |
Protein: ENSMUSP00000132288
Gene: ENSMUSG00000039763
AA Change: R174*
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
100% (53/53) |
| 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 |
|---|
| Adcy5 |
T |
A |
16: 34,977,427 (GRCm39) |
L320Q |
probably damaging |
Het |
| Adgre4 |
A |
T |
17: 56,104,769 (GRCm39) |
L278F |
probably benign |
Het |
| Agfg2 |
C |
A |
5: 137,665,431 (GRCm39) |
R108L |
probably damaging |
Het |
| Arap2 |
A |
T |
5: 62,779,324 (GRCm39) |
|
probably null |
Het |
| Ascl2 |
G |
T |
7: 142,522,336 (GRCm39) |
N37K |
possibly damaging |
Het |
| Baiap3 |
C |
A |
17: 25,463,096 (GRCm39) |
D1043Y |
probably damaging |
Het |
| Cby2 |
T |
A |
14: 75,829,241 (GRCm39) |
|
probably null |
Het |
| Ccdc18 |
T |
C |
5: 108,311,640 (GRCm39) |
|
probably null |
Het |
| Cemip |
T |
A |
7: 83,646,433 (GRCm39) |
D205V |
probably damaging |
Het |
| Cenpn |
G |
A |
8: 117,658,333 (GRCm39) |
G93D |
probably benign |
Het |
| Clpsl2 |
T |
A |
17: 28,768,556 (GRCm39) |
S23R |
possibly damaging |
Het |
| Cnot3 |
T |
A |
7: 3,661,724 (GRCm39) |
I672N |
possibly damaging |
Het |
| Crygs |
A |
G |
16: 22,625,292 (GRCm39) |
Y50H |
probably damaging |
Het |
| Cyp4x1 |
T |
C |
4: 114,968,874 (GRCm39) |
T403A |
possibly damaging |
Het |
| Fam184b |
C |
T |
5: 45,741,709 (GRCm39) |
G174D |
possibly damaging |
Het |
| Fat2 |
T |
A |
11: 55,178,638 (GRCm39) |
D1474V |
probably damaging |
Het |
| Flg2 |
T |
A |
3: 93,108,468 (GRCm39) |
D165E |
possibly damaging |
Het |
| Fpr-rs7 |
A |
T |
17: 20,334,443 (GRCm39) |
F16I |
probably benign |
Het |
| Gpr176 |
G |
A |
2: 118,114,615 (GRCm39) |
T65I |
probably damaging |
Het |
| H2-Q10 |
C |
T |
17: 35,781,996 (GRCm39) |
T206I |
probably null |
Het |
| Hadha |
C |
G |
5: 30,350,285 (GRCm39) |
A88P |
probably damaging |
Het |
| Hlcs |
A |
T |
16: 94,068,485 (GRCm39) |
L245Q |
probably damaging |
Het |
| Hnrnph1 |
T |
C |
11: 50,270,732 (GRCm39) |
V113A |
probably damaging |
Het |
| Hsd3b7 |
G |
A |
7: 127,401,546 (GRCm39) |
V224M |
probably damaging |
Het |
| Igha |
T |
C |
12: 113,223,592 (GRCm39) |
D88G |
|
Het |
| Iqca1l |
T |
C |
5: 24,748,608 (GRCm39) |
M803V |
probably benign |
Het |
| Kdm7a |
T |
C |
6: 39,125,965 (GRCm39) |
K610R |
probably benign |
Het |
| Krt87 |
C |
T |
15: 101,383,284 (GRCm39) |
C474Y |
probably benign |
Het |
| Lrrc74a |
T |
A |
12: 86,788,530 (GRCm39) |
L170H |
probably damaging |
Het |
| Lyg2 |
T |
C |
1: 37,946,748 (GRCm39) |
T178A |
probably benign |
Het |
| Map2k2 |
T |
A |
10: 80,959,442 (GRCm39) |
|
probably null |
Het |
| Mast4 |
C |
T |
13: 103,089,633 (GRCm39) |
|
probably null |
Het |
| Mtmr14 |
T |
A |
6: 113,216,529 (GRCm39) |
D8E |
probably benign |
Het |
| Neu2 |
C |
T |
1: 87,524,633 (GRCm39) |
P206L |
probably damaging |
Het |
| Oga |
C |
T |
19: 45,765,339 (GRCm39) |
R156H |
probably damaging |
Het |
| Or10al6 |
A |
G |
17: 38,083,326 (GRCm39) |
T261A |
probably benign |
Het |
| Or4c105 |
A |
T |
2: 88,647,986 (GRCm39) |
Q157L |
probably damaging |
Het |
| Poc1b |
C |
A |
10: 98,980,338 (GRCm39) |
|
probably null |
Het |
| Proser1 |
T |
A |
3: 53,386,272 (GRCm39) |
V718E |
possibly damaging |
Het |
| Ptgr2 |
T |
A |
12: 84,360,783 (GRCm39) |
L351Q |
possibly damaging |
Het |
| Ptprf |
A |
G |
4: 118,068,275 (GRCm39) |
Y1754H |
probably benign |
Het |
| Scgb2b3 |
T |
C |
7: 31,058,476 (GRCm39) |
K109R |
possibly damaging |
Het |
| Scn2a |
A |
T |
2: 65,520,672 (GRCm39) |
H556L |
probably benign |
Het |
| Scn7a |
A |
T |
2: 66,506,191 (GRCm39) |
M1566K |
possibly damaging |
Het |
| Slco5a1 |
A |
T |
1: 13,060,490 (GRCm39) |
L77* |
probably null |
Het |
| Stk31 |
T |
C |
6: 49,394,261 (GRCm39) |
F208L |
possibly damaging |
Het |
| Tbcd |
C |
T |
11: 121,384,711 (GRCm39) |
T315M |
probably benign |
Het |
| Tbx4 |
A |
G |
11: 85,801,933 (GRCm39) |
I189V |
probably benign |
Het |
| Tia1 |
T |
A |
6: 86,404,682 (GRCm39) |
Y306N |
probably benign |
Het |
| Ttc21b |
T |
A |
2: 66,082,500 (GRCm39) |
Y33F |
probably benign |
Het |
| Usp47 |
T |
A |
7: 111,687,133 (GRCm39) |
L677* |
probably null |
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 |
|
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 |
|
|
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'- TTCCTGAATGAGGTCCTCCAC -3'
(R):5'- AGACAGCGGTTCTAGTGATGC -3'
Sequencing Primer
(F):5'- TCCACCAGGCGCTCGATG -3'
(R):5'- AGTGATGCTGACTCTGCAAC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation