Incidental Mutation 'R6403:Dnajb11'
| ID |
516233 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnajb11
|
| Ensembl Gene |
ENSMUSG00000004460 |
| Gene Name |
DnaJ heat shock protein family (Hsp40) member B11 |
| Synonyms |
ERdj3, Dj9, ABBP-2, 1810031F23Rik |
| MMRRC Submission |
044382-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.544)
|
| Stock # |
R6403 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
22676595-22698384 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 22689691 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 285
(V285D)
|
| 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: V285D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000004574
Gene: ENSMUSG00000004460
AA Change: V285D
| 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: ENSMUST00000133013
AA Change: V54D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166487
AA Change: V285D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126828
Gene: ENSMUSG00000004460
AA Change: V285D
| 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: V285D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137542
Gene: ENSMUSG00000004460
AA Change: V285D
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| 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 |
|---|
| Aars1 |
A |
G |
8: 111,768,881 (GRCm39) |
D227G |
possibly damaging |
Het |
| Aox1 |
A |
G |
1: 58,107,594 (GRCm39) |
I623V |
probably damaging |
Het |
| Camsap2 |
G |
A |
1: 136,208,538 (GRCm39) |
R317* |
probably null |
Het |
| Carmil1 |
G |
A |
13: 24,265,950 (GRCm39) |
R271C |
probably damaging |
Het |
| Ces2b |
T |
A |
8: 105,562,901 (GRCm39) |
L323* |
probably null |
Het |
| Copb1 |
T |
A |
7: 113,837,686 (GRCm39) |
I286F |
probably damaging |
Het |
| Dok5 |
G |
T |
2: 170,671,820 (GRCm39) |
A79S |
probably damaging |
Het |
| Enpp2 |
T |
C |
15: 54,727,160 (GRCm39) |
N557S |
probably damaging |
Het |
| Hexa |
G |
A |
9: 59,464,644 (GRCm39) |
R178H |
probably damaging |
Het |
| Iars1 |
T |
C |
13: 49,840,971 (GRCm39) |
S35P |
probably damaging |
Het |
| Il3ra |
G |
T |
14: 14,347,137 (GRCm38) |
A3S |
probably damaging |
Het |
| Iqcm |
T |
C |
8: 76,304,624 (GRCm39) |
|
probably null |
Het |
| Krt9 |
G |
T |
11: 100,080,485 (GRCm39) |
S420R |
probably damaging |
Het |
| Lca5l |
T |
C |
16: 95,975,045 (GRCm39) |
N293S |
probably benign |
Het |
| Mb21d2 |
A |
G |
16: 28,647,269 (GRCm39) |
I235T |
possibly damaging |
Het |
| Ncbp3 |
A |
G |
11: 72,969,802 (GRCm39) |
T550A |
probably benign |
Het |
| Nckipsd |
G |
T |
9: 108,688,882 (GRCm39) |
R139L |
possibly damaging |
Het |
| Nxn |
A |
G |
11: 76,289,846 (GRCm39) |
V14A |
probably benign |
Het |
| Or8d2b |
T |
C |
9: 38,788,538 (GRCm39) |
L22P |
probably damaging |
Het |
| Pramel22 |
G |
A |
4: 143,382,343 (GRCm39) |
Q118* |
probably null |
Het |
| Rprd2 |
C |
A |
3: 95,673,399 (GRCm39) |
C668F |
possibly damaging |
Het |
| Tmem87a |
A |
T |
2: 120,211,252 (GRCm39) |
M231K |
possibly damaging |
Het |
| Trappc8 |
A |
G |
18: 20,999,128 (GRCm39) |
V333A |
probably benign |
Het |
| Trit1 |
C |
A |
4: 122,933,372 (GRCm39) |
T103K |
possibly damaging |
Het |
| Tspan13 |
A |
G |
12: 36,065,704 (GRCm39) |
F203S |
probably damaging |
Het |
| Vmn2r114 |
C |
T |
17: 23,528,939 (GRCm39) |
D388N |
probably damaging |
Het |
| Zfp617 |
C |
T |
8: 72,683,015 (GRCm39) |
A55V |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGTTATCAGAGCCAGAGG -3'
(R):5'- TTTCAGACAGTCATCCCATACC -3'
Sequencing Primer
(F):5'- TCTGCTGCTGAGCCTCCAG -3'
(R):5'- TCCCATACCATGCACACGTG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation