Incidental Mutation 'IGL02581:Dnajb11'
| ID |
299356 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dnajb11
|
| Ensembl Gene |
ENSMUSG00000004460 |
| Gene Name |
DnaJ heat shock protein family (Hsp40) member B11 |
| Synonyms |
ERdj3, Dj9, ABBP-2, 1810031F23Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.544)
|
| Stock # |
IGL02581
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
22676595-22698384 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 22689768 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 311
(N311D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137542
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004574]
[ENSMUST00000133013]
[ENSMUST00000166487]
[ENSMUST00000178320]
|
| AlphaFold |
Q99KV1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004574
AA Change: N311D
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000004574
Gene: ENSMUSG00000004460
AA Change: N311D
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
24 |
82 |
4.04e-32 |
SMART |
|
low complexity region
|
102 |
119 |
N/A |
INTRINSIC |
|
Pfam:CTDII
|
257 |
338 |
3.4e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132105
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133013
AA Change: N80D
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166487
AA Change: N311D
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000126828
Gene: ENSMUSG00000004460
AA Change: N311D
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
24 |
82 |
4.04e-32 |
SMART |
|
low complexity region
|
102 |
119 |
N/A |
INTRINSIC |
|
Pfam:CTDII
|
257 |
338 |
3.4e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178320
AA Change: N311D
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000137542
Gene: ENSMUSG00000004460
AA Change: N311D
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
24 |
82 |
4.04e-32 |
SMART |
|
low complexity region
|
102 |
119 |
N/A |
INTRINSIC |
|
Pfam:DnaJ_C
|
134 |
327 |
3e-28 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231692
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a soluble glycoprotein of the endoplasmic reticulum (ER) lumen that functions as a co-chaperone of binding immunoglobulin protein, a 70 kilodalton heat shock protein chaperone required for the proper folding and assembly of proteins in the ER. The encoded protein contains a highly conserved J domain of about 70 amino acids with a characteristic His-Pro-Asp (HPD) motif and may regulate the activity of binding immunoglobulin protein by stimulating ATPase activity. [provided by RefSeq, Mar 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034H15Rik |
A |
G |
1: 191,635,652 (GRCm39) |
|
probably benign |
Het |
| Abca13 |
C |
T |
11: 9,349,132 (GRCm39) |
|
probably benign |
Het |
| Aga |
T |
C |
8: 53,974,079 (GRCm39) |
|
probably benign |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| C1rl |
T |
C |
6: 124,470,113 (GRCm39) |
S2P |
possibly damaging |
Het |
| Cstdc5 |
T |
C |
16: 36,179,860 (GRCm39) |
T86A |
probably damaging |
Het |
| Dgkd |
T |
C |
1: 87,845,724 (GRCm39) |
|
probably benign |
Het |
| Flg2 |
A |
C |
3: 93,127,199 (GRCm39) |
Q2037P |
unknown |
Het |
| Glyctk |
T |
C |
9: 106,034,980 (GRCm39) |
T29A |
probably benign |
Het |
| Gtf3c1 |
C |
A |
7: 125,245,687 (GRCm39) |
R1672L |
possibly damaging |
Het |
| Hps3 |
A |
T |
3: 20,057,385 (GRCm39) |
|
probably benign |
Het |
| Kcnh3 |
G |
T |
15: 99,136,052 (GRCm39) |
C683F |
possibly damaging |
Het |
| Lmtk2 |
T |
G |
5: 144,085,166 (GRCm39) |
F213V |
probably damaging |
Het |
| Malrd1 |
C |
A |
2: 16,147,123 (GRCm39) |
C1988* |
probably null |
Het |
| Map3k11 |
T |
A |
19: 5,750,834 (GRCm39) |
M684K |
probably benign |
Het |
| Oga |
T |
A |
19: 45,740,630 (GRCm39) |
M902L |
possibly damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Plekhh1 |
T |
C |
12: 79,125,882 (GRCm39) |
|
probably null |
Het |
| Rev3l |
C |
A |
10: 39,697,277 (GRCm39) |
N591K |
probably benign |
Het |
| Rrp9 |
T |
A |
9: 106,360,827 (GRCm39) |
N269K |
probably damaging |
Het |
| Sec14l4 |
T |
C |
11: 3,989,941 (GRCm39) |
I80T |
possibly damaging |
Het |
| Srpra |
G |
A |
9: 35,126,328 (GRCm39) |
|
probably null |
Het |
| Tmc8 |
G |
A |
11: 117,674,714 (GRCm39) |
R143H |
probably benign |
Het |
| Trank1 |
T |
C |
9: 111,212,193 (GRCm39) |
I1777T |
probably benign |
Het |
| Trim17 |
C |
A |
11: 58,861,902 (GRCm39) |
Y311* |
probably null |
Het |
| Vps13a |
C |
T |
19: 16,632,686 (GRCm39) |
A2557T |
probably benign |
Het |
| Vps53 |
T |
G |
11: 75,992,883 (GRCm39) |
N106T |
probably damaging |
Het |
|
| Other mutations in Dnajb11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01153:Dnajb11
|
APN |
16 |
22,681,430 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01952:Dnajb11
|
APN |
16 |
22,684,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03117:Dnajb11
|
APN |
16 |
22,687,888 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0054:Dnajb11
|
UTSW |
16 |
22,681,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0054:Dnajb11
|
UTSW |
16 |
22,681,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0765:Dnajb11
|
UTSW |
16 |
22,681,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1174:Dnajb11
|
UTSW |
16 |
22,689,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1175:Dnajb11
|
UTSW |
16 |
22,689,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1415:Dnajb11
|
UTSW |
16 |
22,689,371 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4021:Dnajb11
|
UTSW |
16 |
22,688,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4022:Dnajb11
|
UTSW |
16 |
22,688,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6041:Dnajb11
|
UTSW |
16 |
22,687,471 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6403:Dnajb11
|
UTSW |
16 |
22,689,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8543:Dnajb11
|
UTSW |
16 |
22,681,335 (GRCm39) |
missense |
probably benign |
|
|
R9632:Dnajb11
|
UTSW |
16 |
22,681,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Dnajb11
|
UTSW |
16 |
22,685,711 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Dnajb11
|
UTSW |
16 |
22,684,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation