Incidental Mutation 'R8163:Dnajc28'
| ID |
633642 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnajc28
|
| Ensembl Gene |
ENSMUSG00000039763 |
| Gene Name |
DnaJ heat shock protein family (Hsp40) member C28 |
| Synonyms |
ORF28 |
| MMRRC Submission |
067589-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8163 (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: 99.4%
- 20x: 98.2%
|
| 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 |
|---|
| 9930022D16Rik |
A |
G |
11: 109,304,883 (GRCm39) |
I11V |
unknown |
Het |
| Ago3 |
G |
T |
4: 126,262,377 (GRCm39) |
T391K |
probably benign |
Het |
| Asap1 |
A |
G |
15: 63,963,899 (GRCm39) |
W1100R |
probably damaging |
Het |
| Bbof1 |
T |
C |
12: 84,473,536 (GRCm39) |
S289P |
possibly damaging |
Het |
| Cd3d |
T |
C |
9: 44,896,952 (GRCm39) |
F109L |
probably benign |
Het |
| Cebpd |
A |
T |
16: 15,705,841 (GRCm39) |
E218V |
probably damaging |
Het |
| Cfl1 |
T |
C |
19: 5,543,528 (GRCm39) |
|
probably benign |
Het |
| Cpa2 |
A |
C |
6: 30,564,350 (GRCm39) |
I394L |
probably damaging |
Het |
| Ddx50 |
C |
A |
10: 62,475,678 (GRCm39) |
V348F |
possibly damaging |
Het |
| Echs1 |
A |
G |
7: 139,692,357 (GRCm39) |
V130A |
possibly damaging |
Het |
| Eif2s2 |
A |
G |
2: 154,734,621 (GRCm39) |
S2P |
probably benign |
Het |
| Fastk |
A |
G |
5: 24,649,273 (GRCm39) |
I38T |
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,871,055 (GRCm39) |
R3779C |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 39,033,881 (GRCm39) |
N2511I |
possibly damaging |
Het |
| Fbxw13 |
G |
A |
9: 109,012,122 (GRCm39) |
T315I |
probably benign |
Het |
| Fzd5 |
A |
T |
1: 64,774,352 (GRCm39) |
Y470N |
probably damaging |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Gpr25 |
T |
C |
1: 136,187,596 (GRCm39) |
D339G |
probably damaging |
Het |
| Igsf9b |
T |
A |
9: 27,233,907 (GRCm39) |
|
probably null |
Het |
| Il5 |
T |
A |
11: 53,614,813 (GRCm39) |
M125K |
possibly damaging |
Het |
| Iqub |
G |
A |
6: 24,449,714 (GRCm39) |
T717I |
probably benign |
Het |
| Katnb1 |
T |
C |
8: 95,823,014 (GRCm39) |
F403S |
probably damaging |
Het |
| Krt26 |
T |
C |
11: 99,220,498 (GRCm39) |
I451V |
probably benign |
Het |
| Krt88 |
T |
C |
15: 101,351,389 (GRCm39) |
L132P |
probably damaging |
Het |
| Kynu |
G |
T |
2: 43,518,966 (GRCm39) |
G245V |
probably damaging |
Het |
| Lap3 |
C |
T |
5: 45,669,389 (GRCm39) |
R513* |
probably null |
Het |
| Lin9 |
C |
T |
1: 180,486,691 (GRCm39) |
R126W |
probably damaging |
Het |
| Lrrc37 |
A |
T |
11: 103,506,688 (GRCm39) |
I1760K |
unknown |
Het |
| Lrrtm2 |
C |
T |
18: 35,346,777 (GRCm39) |
R175H |
probably damaging |
Het |
| N4bp2l2 |
A |
G |
5: 150,584,774 (GRCm39) |
L60P |
probably damaging |
Het |
| Ncr1 |
T |
C |
7: 4,343,828 (GRCm39) |
F142S |
probably damaging |
Het |
| Nktr |
TAGAAG |
TAG |
9: 121,579,929 (GRCm39) |
|
probably benign |
Het |
| Or5b95 |
A |
G |
19: 12,657,552 (GRCm39) |
I27V |
probably benign |
Het |
| Parp16 |
T |
A |
9: 65,137,231 (GRCm39) |
H152Q |
probably damaging |
Het |
| Plaa |
C |
G |
4: 94,457,640 (GRCm39) |
V777L |
probably benign |
Het |
| Prnp |
A |
G |
2: 131,778,908 (GRCm39) |
T187A |
probably benign |
Het |
| Pzp |
T |
G |
6: 128,489,157 (GRCm39) |
I485L |
probably benign |
Het |
| Rc3h1 |
T |
A |
1: 160,782,629 (GRCm39) |
Y703N |
probably damaging |
Het |
| Rngtt |
G |
A |
4: 33,325,109 (GRCm39) |
C110Y |
probably damaging |
Het |
| Rps10 |
G |
A |
17: 27,853,085 (GRCm39) |
R95C |
probably benign |
Het |
| Scn9a |
T |
A |
2: 66,314,745 (GRCm39) |
I1658F |
probably damaging |
Het |
| Sec16a |
A |
T |
2: 26,306,433 (GRCm39) |
W702R |
|
Het |
| Taf6 |
G |
T |
5: 138,180,238 (GRCm39) |
Q339K |
possibly damaging |
Het |
| Tbcd |
C |
T |
11: 121,384,711 (GRCm39) |
T315M |
probably benign |
Het |
| Tmem198 |
C |
T |
1: 75,459,671 (GRCm39) |
P209S |
possibly damaging |
Het |
| Vmn2r78 |
G |
A |
7: 86,603,660 (GRCm39) |
A613T |
probably damaging |
Het |
| Vps13c |
G |
A |
9: 67,857,720 (GRCm39) |
E2651K |
probably benign |
Het |
| Wdfy4 |
C |
T |
14: 32,873,545 (GRCm39) |
V255I |
|
Het |
| Zfhx3 |
A |
G |
8: 109,675,925 (GRCm39) |
D2325G |
probably damaging |
Het |
| Zfp36l2 |
T |
C |
17: 84,494,551 (GRCm39) |
N29D |
possibly damaging |
Het |
| Zfp692 |
T |
A |
11: 58,201,199 (GRCm39) |
|
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 |
|
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'- ATGGATTCCTGAATGAGGTCC -3'
(R):5'- GCGGTTCTAGTGATGCTGAC -3'
Sequencing Primer
(F):5'- GGATTCCTGAATGAGGTCCTCCAC -3'
(R):5'- AGTGATGCTGACTCTGCAAC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation