Incidental Mutation 'R4112:Dnajc28'
| ID |
314485 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnajc28
|
| Ensembl Gene |
ENSMUSG00000039763 |
| Gene Name |
DnaJ heat shock protein family (Hsp40) member C28 |
| Synonyms |
ORF28 |
| MMRRC Submission |
040989-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4112 (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: 98.7%
- 10x: 97.6%
- 20x: 96.3%
|
| Validation Efficiency |
97% (56/58) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Aamp |
A |
G |
1: 74,320,386 (GRCm39) |
|
probably benign |
Het |
| Abcb4 |
A |
G |
5: 8,986,783 (GRCm39) |
|
probably null |
Het |
| Adam6b |
T |
A |
12: 113,453,256 (GRCm39) |
F24L |
possibly damaging |
Het |
| Alms1 |
G |
A |
6: 85,597,870 (GRCm39) |
V1368I |
probably benign |
Het |
| Angpt2 |
T |
A |
8: 18,749,139 (GRCm39) |
Q326L |
probably damaging |
Het |
| Armc9 |
T |
A |
1: 86,116,661 (GRCm39) |
I327N |
possibly damaging |
Het |
| Bace2 |
A |
G |
16: 97,237,856 (GRCm39) |
T436A |
probably benign |
Het |
| Ccdc162 |
T |
A |
10: 41,532,324 (GRCm39) |
E450V |
possibly damaging |
Het |
| Ccdc7b |
G |
T |
8: 129,811,708 (GRCm39) |
|
probably benign |
Het |
| Cdh17 |
T |
C |
4: 11,814,628 (GRCm39) |
S728P |
probably damaging |
Het |
| Chia1 |
T |
C |
3: 106,035,844 (GRCm39) |
L168P |
probably damaging |
Het |
| Cnot1 |
A |
C |
8: 96,500,246 (GRCm39) |
L111V |
probably damaging |
Het |
| Col14a1 |
A |
T |
15: 55,226,955 (GRCm39) |
N235I |
unknown |
Het |
| Col2a1 |
A |
C |
15: 97,881,582 (GRCm39) |
L787R |
probably benign |
Het |
| Cyp3a25 |
A |
T |
5: 145,939,841 (GRCm39) |
D55E |
probably benign |
Het |
| Dennd6a |
A |
T |
14: 26,349,673 (GRCm39) |
|
probably benign |
Het |
| Etfbkmt |
T |
C |
6: 149,046,089 (GRCm39) |
|
probably benign |
Het |
| Etfrf1 |
T |
C |
6: 145,161,098 (GRCm39) |
Y23H |
probably damaging |
Het |
| Gemin4 |
T |
A |
11: 76,103,645 (GRCm39) |
E372V |
probably damaging |
Het |
| Glyr1 |
T |
C |
16: 4,836,350 (GRCm39) |
K500E |
possibly damaging |
Het |
| Gm10271 |
A |
T |
10: 116,803,943 (GRCm39) |
|
probably benign |
Het |
| Gm20775 |
A |
T |
Y: 10,641,878 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5578 |
A |
G |
6: 112,583,466 (GRCm39) |
|
noncoding transcript |
Het |
| Gxylt2 |
A |
G |
6: 100,760,167 (GRCm39) |
N234S |
probably damaging |
Het |
| Kcna6 |
G |
C |
6: 126,716,737 (GRCm39) |
R51G |
probably damaging |
Het |
| Klf17 |
A |
G |
4: 117,617,898 (GRCm39) |
V153A |
possibly damaging |
Het |
| L3mbtl2 |
T |
C |
15: 81,566,170 (GRCm39) |
V331A |
possibly damaging |
Het |
| Med1 |
A |
T |
11: 98,070,913 (GRCm39) |
V110E |
probably damaging |
Het |
| Nsmaf |
A |
C |
4: 6,417,188 (GRCm39) |
Y535* |
probably null |
Het |
| Pcdh10 |
G |
A |
3: 45,336,055 (GRCm39) |
V790M |
probably damaging |
Het |
| Phlpp1 |
A |
G |
1: 106,292,068 (GRCm39) |
T976A |
probably damaging |
Het |
| Prelid3a |
T |
C |
18: 67,605,967 (GRCm39) |
Y25H |
probably damaging |
Het |
| Ptprk |
T |
A |
10: 28,351,284 (GRCm39) |
|
probably null |
Het |
| Rbm5 |
A |
T |
9: 107,642,796 (GRCm39) |
D79E |
probably damaging |
Het |
| Rhox3f |
G |
T |
X: 36,763,672 (GRCm39) |
E140* |
probably null |
Het |
| Rnd3 |
T |
A |
2: 51,038,242 (GRCm39) |
T78S |
possibly damaging |
Het |
| Scart2 |
G |
T |
7: 139,878,281 (GRCm39) |
G1003* |
probably null |
Het |
| Sgca |
T |
C |
11: 94,863,396 (GRCm39) |
T27A |
possibly damaging |
Het |
| Slc10a2 |
C |
T |
8: 5,155,135 (GRCm39) |
D17N |
probably benign |
Het |
| Snap23 |
C |
T |
2: 120,414,856 (GRCm39) |
|
probably benign |
Het |
| Sptb |
T |
A |
12: 76,644,553 (GRCm39) |
T2098S |
probably damaging |
Het |
| Src |
T |
A |
2: 157,304,946 (GRCm39) |
L165H |
probably damaging |
Het |
| Srr |
G |
T |
11: 74,803,898 (GRCm39) |
Q20K |
probably benign |
Het |
| Stt3b |
A |
T |
9: 115,095,206 (GRCm39) |
F275Y |
probably damaging |
Het |
| Sucnr1 |
C |
G |
3: 59,994,215 (GRCm39) |
R248G |
probably damaging |
Het |
| Thsd7b |
A |
T |
1: 130,044,356 (GRCm39) |
D1112V |
probably benign |
Het |
| Tmem80 |
A |
G |
7: 140,913,692 (GRCm39) |
|
probably benign |
Het |
| Top2a |
C |
A |
11: 98,913,786 (GRCm39) |
K18N |
probably damaging |
Het |
| Ttc24 |
T |
A |
3: 87,981,946 (GRCm39) |
D40V |
probably damaging |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp3 |
T |
A |
11: 70,662,333 (GRCm39) |
S97R |
probably benign |
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 |
|
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'- CAGCCAGAAAATTTCTTCAGCGG -3'
(R):5'- TGTCCCATGCGATAAAACGG -3'
Sequencing Primer
(F):5'- TTTCCCGCTGAGATTGTCAAAG -3'
(R):5'- TGCGATAAAACGGATGCATGCC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation