Incidental Mutation 'R4113:Dnajc28'
| ID |
314526 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnajc28
|
| Ensembl Gene |
ENSMUSG00000039763 |
| Gene Name |
DnaJ heat shock protein family (Hsp40) member C28 |
| Synonyms |
ORF28 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4113 (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: 98.6%
- 10x: 97.6%
- 20x: 96.1%
|
| 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 |
|---|
| Bace2 |
A |
G |
16: 97,237,856 (GRCm39) |
T436A |
probably benign |
Het |
| BC024139 |
A |
G |
15: 76,005,827 (GRCm39) |
M458T |
probably benign |
Het |
| Casp2 |
G |
A |
6: 42,244,828 (GRCm39) |
A76T |
probably damaging |
Het |
| Catsper3 |
A |
G |
13: 55,934,183 (GRCm39) |
K35E |
probably damaging |
Het |
| Ccdc88c |
A |
G |
12: 100,911,332 (GRCm39) |
L34P |
probably damaging |
Het |
| Dcaf13 |
T |
A |
15: 38,993,615 (GRCm39) |
I236N |
probably damaging |
Het |
| Dip2c |
G |
T |
13: 9,687,137 (GRCm39) |
G1254C |
probably damaging |
Het |
| Dnah12 |
T |
C |
14: 26,414,722 (GRCm39) |
L41P |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 118,003,420 (GRCm39) |
K514R |
possibly damaging |
Het |
| Dnajb12 |
T |
A |
10: 59,730,136 (GRCm39) |
S270R |
possibly damaging |
Het |
| Eya4 |
G |
T |
10: 23,031,849 (GRCm39) |
S235Y |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Gdf3 |
A |
G |
6: 122,584,016 (GRCm39) |
I117T |
probably damaging |
Het |
| Gm5611 |
T |
A |
9: 16,941,989 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf3c4 |
G |
A |
2: 28,717,567 (GRCm39) |
T771I |
probably damaging |
Het |
| Hrh3 |
C |
A |
2: 179,744,643 (GRCm39) |
R99L |
possibly damaging |
Het |
| Hyls1 |
T |
A |
9: 35,472,714 (GRCm39) |
Y234F |
probably damaging |
Het |
| Irak1bp1 |
T |
C |
9: 82,728,728 (GRCm39) |
S220P |
probably benign |
Het |
| Lama1 |
G |
A |
17: 68,071,698 (GRCm39) |
V862I |
probably benign |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Or14a258 |
G |
A |
7: 86,035,733 (GRCm39) |
T45M |
possibly damaging |
Het |
| Or4b12 |
A |
T |
2: 90,096,684 (GRCm39) |
L30H |
probably damaging |
Het |
| Pcdh8 |
T |
C |
14: 80,004,953 (GRCm39) |
D927G |
probably damaging |
Het |
| Prelid3a |
T |
C |
18: 67,605,967 (GRCm39) |
Y25H |
probably damaging |
Het |
| Ptprm |
T |
C |
17: 67,032,808 (GRCm39) |
D1015G |
probably damaging |
Het |
| Rhox3f |
G |
T |
X: 36,763,672 (GRCm39) |
E140* |
probably null |
Het |
| Riox2 |
C |
T |
16: 59,312,257 (GRCm39) |
L465F |
probably benign |
Het |
| Sec31b |
G |
T |
19: 44,512,968 (GRCm39) |
T507N |
possibly damaging |
Het |
| Stab1 |
C |
T |
14: 30,890,436 (GRCm39) |
R5Q |
probably damaging |
Het |
| Stmn3 |
T |
C |
2: 180,949,089 (GRCm39) |
K135E |
possibly damaging |
Het |
| Synj2 |
G |
A |
17: 6,058,240 (GRCm39) |
G243S |
probably benign |
Het |
| Tasor |
C |
T |
14: 27,181,918 (GRCm39) |
R483* |
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tshz2 |
C |
A |
2: 169,727,450 (GRCm39) |
P213Q |
probably benign |
Het |
| Tssk4 |
A |
G |
14: 55,887,830 (GRCm39) |
T9A |
probably benign |
Het |
| Ube4a |
T |
A |
9: 44,860,247 (GRCm39) |
I272F |
probably damaging |
Het |
| Unc79 |
T |
C |
12: 103,025,629 (GRCm39) |
C339R |
probably damaging |
Het |
| Vmn2r87 |
T |
C |
10: 130,315,691 (GRCm39) |
D125G |
probably benign |
Het |
| Yap1 |
A |
T |
9: 7,938,432 (GRCm39) |
*358K |
probably null |
Het |
| Zfp992 |
C |
T |
4: 146,551,976 (GRCm39) |
H566Y |
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 |
|
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 |
|
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'- CAGCCAGAAAATTTCTTCAGCGG -3'
(R):5'- TGTCCCATGCGATAAAACGG -3'
Sequencing Primer
(F):5'- TTTCCCGCTGAGATTGTCAAAG -3'
(R):5'- TGCGATAAAACGGATGCATGCC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation