Incidental Mutation 'R1415:Dnajb11'
| ID |
159785 |
| 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 |
039471-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.544)
|
| Stock # |
R1415 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
22676595-22698384 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 22689371 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 264
(V264A)
|
| 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: V264A
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000004574
Gene: ENSMUSG00000004460
AA Change: V264A
| 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: V33A
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166487
AA Change: V264A
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000126828
Gene: ENSMUSG00000004460
AA Change: V264A
| 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: V264A
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000137542
Gene: ENSMUSG00000004460
AA Change: V264A
| 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: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.6%
|
| 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 |
|---|
| Acacb |
T |
C |
5: 114,303,982 (GRCm39) |
V135A |
probably benign |
Het |
| Adam21 |
C |
T |
12: 81,606,321 (GRCm39) |
W480* |
probably null |
Het |
| Ccdc71 |
T |
A |
9: 108,340,407 (GRCm39) |
Y73* |
probably null |
Het |
| Cfap44 |
T |
A |
16: 44,301,752 (GRCm39) |
I1830N |
probably damaging |
Het |
| Fam135b |
T |
C |
15: 71,328,777 (GRCm39) |
E1174G |
probably damaging |
Het |
| Fam83e |
G |
A |
7: 45,376,135 (GRCm39) |
E283K |
probably damaging |
Het |
| Gigyf1 |
A |
G |
5: 137,517,478 (GRCm39) |
|
probably null |
Het |
| Letm1 |
A |
T |
5: 33,926,906 (GRCm39) |
N130K |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,519,676 (GRCm39) |
Y137C |
probably damaging |
Het |
| Map3k2 |
A |
G |
18: 32,361,330 (GRCm39) |
I597V |
possibly damaging |
Het |
| Nek1 |
A |
G |
8: 61,542,720 (GRCm39) |
E770G |
probably benign |
Het |
| Or4d2b |
A |
C |
11: 87,780,473 (GRCm39) |
V83G |
possibly damaging |
Het |
| Or52n2b |
A |
G |
7: 104,565,543 (GRCm39) |
I320T |
probably benign |
Het |
| Pank2 |
T |
A |
2: 131,124,638 (GRCm39) |
Y68* |
probably null |
Het |
| Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
| Secisbp2l |
C |
A |
2: 125,582,285 (GRCm39) |
G1057V |
probably benign |
Het |
| Slc30a2 |
C |
T |
4: 134,076,660 (GRCm39) |
T265M |
probably damaging |
Het |
| Smarca2 |
A |
G |
19: 26,688,084 (GRCm39) |
E1239G |
probably null |
Het |
| Snx30 |
C |
T |
4: 59,879,261 (GRCm39) |
R167C |
probably damaging |
Het |
| Tmem26 |
T |
C |
10: 68,614,491 (GRCm39) |
F302S |
possibly damaging |
Het |
| Tpgs2 |
A |
G |
18: 25,301,610 (GRCm39) |
L19S |
probably damaging |
Het |
| Trp53bp1 |
T |
G |
2: 121,066,665 (GRCm39) |
E687A |
probably damaging |
Het |
| Ttc27 |
C |
T |
17: 75,046,667 (GRCm39) |
H243Y |
probably benign |
Het |
| Wdfy4 |
A |
T |
14: 32,763,137 (GRCm39) |
V2318D |
possibly damaging |
Het |
| Wdr59 |
G |
A |
8: 112,225,228 (GRCm39) |
P141S |
probably damaging |
Het |
| Zbed6 |
C |
T |
1: 133,585,556 (GRCm39) |
V594M |
possibly damaging |
Het |
| Zfp787 |
C |
A |
7: 6,135,694 (GRCm39) |
G186C |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGAGCTAAGCATGGCCTTTCTTTTC -3'
(R):5'- ATCACACAACTTCTACTGGGCACTG -3'
Sequencing Primer
(F):5'- AAGCATGGCCTTTCTTTTCTATAAC -3'
(R):5'- CTAGTAGTGTCACAGCTCAGCAG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation