Incidental Mutation 'IGL01952:Dnajb11'
| ID |
181077 |
| 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 # |
IGL01952
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
22676595-22698384 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 22684250 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 91
(E91G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137542
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004574]
[ENSMUST00000133013]
[ENSMUST00000166487]
[ENSMUST00000178320]
|
| AlphaFold |
Q99KV1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000004574
AA Change: E91G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000004574
Gene: ENSMUSG00000004460
AA Change: E91G
| 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
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166487
AA Change: E91G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126828
Gene: ENSMUSG00000004460
AA Change: E91G
| 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 damaging
Transcript: ENSMUST00000178320
AA Change: E91G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000137542
Gene: ENSMUSG00000004460
AA Change: E91G
| 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 |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Astl |
T |
C |
2: 127,184,398 (GRCm39) |
|
probably null |
Het |
| Bod1l |
C |
T |
5: 41,974,297 (GRCm39) |
C2339Y |
possibly damaging |
Het |
| Celsr1 |
T |
A |
15: 85,847,424 (GRCm39) |
I1438F |
probably benign |
Het |
| Dbr1 |
T |
A |
9: 99,464,465 (GRCm39) |
N297K |
possibly damaging |
Het |
| Dmxl1 |
A |
G |
18: 50,023,721 (GRCm39) |
H1668R |
probably benign |
Het |
| Dnai3 |
T |
C |
3: 145,802,918 (GRCm39) |
H91R |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Grin2d |
C |
A |
7: 45,511,704 (GRCm39) |
R247L |
probably benign |
Het |
| Gzf1 |
G |
A |
2: 148,525,981 (GRCm39) |
A151T |
probably benign |
Het |
| Hacl1 |
C |
T |
14: 31,363,079 (GRCm39) |
|
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,018,075 (GRCm39) |
T1854K |
possibly damaging |
Het |
| Htr1d |
T |
C |
4: 136,170,872 (GRCm39) |
V367A |
probably benign |
Het |
| Ifi208 |
T |
C |
1: 173,506,597 (GRCm39) |
S127P |
possibly damaging |
Het |
| Ifngr2 |
C |
T |
16: 91,356,876 (GRCm39) |
P137S |
probably damaging |
Het |
| Lcn9 |
T |
C |
2: 25,714,550 (GRCm39) |
L138P |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,723,657 (GRCm39) |
V2531A |
possibly damaging |
Het |
| Meioc |
A |
T |
11: 102,563,011 (GRCm39) |
I70F |
possibly damaging |
Het |
| Mideas |
G |
A |
12: 84,220,040 (GRCm39) |
P305S |
probably benign |
Het |
| Mlph |
A |
C |
1: 90,861,193 (GRCm39) |
D276A |
probably benign |
Het |
| Myh1 |
T |
A |
11: 67,111,218 (GRCm39) |
|
probably null |
Het |
| Nlrp9a |
G |
A |
7: 26,257,444 (GRCm39) |
S265N |
probably benign |
Het |
| Ofcc1 |
G |
A |
13: 40,434,337 (GRCm39) |
A22V |
probably damaging |
Het |
| Or11j4 |
T |
A |
14: 50,630,860 (GRCm39) |
F216I |
probably benign |
Het |
| Pisd |
C |
A |
5: 32,896,476 (GRCm39) |
|
probably null |
Het |
| Prlr |
A |
G |
15: 10,328,428 (GRCm39) |
D301G |
possibly damaging |
Het |
| Ptk2 |
T |
C |
15: 73,101,780 (GRCm39) |
E810G |
probably damaging |
Het |
| Slco1b2 |
T |
G |
6: 141,616,956 (GRCm39) |
F430V |
probably benign |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Supt6 |
T |
C |
11: 78,116,586 (GRCm39) |
K646R |
probably benign |
Het |
| Tmem260 |
C |
T |
14: 48,709,933 (GRCm39) |
A52V |
probably damaging |
Het |
| Tmpo |
G |
A |
10: 90,999,104 (GRCm39) |
R228C |
probably benign |
Het |
| Tulp1 |
G |
A |
17: 28,575,398 (GRCm39) |
T103M |
probably damaging |
Het |
| Vwa5b1 |
G |
A |
4: 138,308,528 (GRCm39) |
P770S |
probably benign |
Het |
| Zfp639 |
A |
G |
3: 32,569,496 (GRCm39) |
Y18C |
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 |
|
IGL02581:Dnajb11
|
APN |
16 |
22,689,768 (GRCm39) |
missense |
probably benign |
0.02 |
|
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 |
2014-05-07 |
Incidental Mutation