Incidental Mutation 'R4192:Dnajb9'
| ID |
318365 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnajb9
|
| Ensembl Gene |
ENSMUSG00000014905 |
| Gene Name |
DnaJ heat shock protein family (Hsp40) member B9 |
| Synonyms |
ERdj4, Mdg1, mDj7, microvascular endothelial differentiation gene |
| MMRRC Submission |
041023-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.407)
|
| Stock # |
R4192 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
44252680-44256851 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 44253860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 182
(D182E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015049
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015049]
[ENSMUST00000220421]
|
| AlphaFold |
Q9QYI6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015049
AA Change: D182E
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000015049
Gene: ENSMUSG00000014905
AA Change: D182E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
DnaJ
|
25 |
82 |
2.55e-29 |
SMART |
|
low complexity region
|
111 |
125 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177238
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219471
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220421
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the J protein family. J proteins function in many cellular processes by regulating the ATPase activity of 70 kDa heat shock proteins. This gene is a member of the type 2 subgroup of DnaJ proteins. The encoded protein is localized to the endoplasmic reticulum. This protein is induced by endoplasmic reticulum stress and plays a role in protecting stressed cells from apoptosis. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a hypomorphic allele show perinatal death, reduced birth size and liver glycogen levels, and hypoglycemia. Surviving adults show elevated ER stress in MEFs, lung, kidney, salivary gland and in pancreas, associated with beta cell loss, hypoinsulinemia, and glucose intolerance. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
G |
T |
14: 35,818,536 (GRCm39) |
R178L |
possibly damaging |
Het |
| Acot4 |
T |
C |
12: 84,089,948 (GRCm39) |
|
probably benign |
Het |
| Add3 |
C |
A |
19: 53,230,955 (GRCm39) |
D543E |
probably benign |
Het |
| Angpt4 |
A |
C |
2: 151,785,238 (GRCm39) |
D418A |
probably benign |
Het |
| Ano8 |
A |
T |
8: 71,935,936 (GRCm39) |
V260D |
probably damaging |
Het |
| Cfh |
C |
T |
1: 140,030,454 (GRCm39) |
R860H |
possibly damaging |
Het |
| Csmd3 |
T |
C |
15: 47,710,667 (GRCm39) |
D1536G |
probably damaging |
Het |
| Epb42 |
G |
T |
2: 120,860,570 (GRCm39) |
|
probably null |
Het |
| Fam185a |
T |
A |
5: 21,630,122 (GRCm39) |
|
probably benign |
Het |
| Fer1l6 |
A |
G |
15: 58,518,998 (GRCm39) |
D1710G |
probably damaging |
Het |
| Gabra2 |
G |
A |
5: 71,165,341 (GRCm39) |
P210S |
probably benign |
Het |
| Gm8369 |
C |
T |
19: 11,479,596 (GRCm39) |
P9S |
probably damaging |
Het |
| Il17ra |
A |
G |
6: 120,458,472 (GRCm39) |
D541G |
probably damaging |
Het |
| Ints4 |
T |
G |
7: 97,156,940 (GRCm39) |
H337Q |
probably damaging |
Het |
| Itgam |
A |
G |
7: 127,663,904 (GRCm39) |
T44A |
probably benign |
Het |
| Lyst |
C |
A |
13: 13,915,098 (GRCm39) |
T3264N |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,366,835 (GRCm39) |
F1077S |
possibly damaging |
Het |
| Myo3a |
T |
A |
2: 22,412,188 (GRCm39) |
F728I |
probably damaging |
Het |
| Nacad |
T |
C |
11: 6,555,534 (GRCm39) |
E72G |
probably benign |
Het |
| Nkain3 |
G |
A |
4: 20,485,003 (GRCm39) |
Q25* |
probably null |
Het |
| Oca2 |
T |
C |
7: 55,946,997 (GRCm39) |
F342S |
probably damaging |
Het |
| Or10d1c |
T |
A |
9: 38,894,313 (GRCm39) |
Q9L |
probably benign |
Het |
| Osbpl6 |
T |
A |
2: 76,415,573 (GRCm39) |
L499Q |
probably damaging |
Het |
| Pcdhgb8 |
G |
C |
18: 37,896,594 (GRCm39) |
D555H |
probably damaging |
Het |
| Peak1 |
A |
T |
9: 56,166,025 (GRCm39) |
N634K |
probably damaging |
Het |
| Pitpnm3 |
T |
C |
11: 71,942,785 (GRCm39) |
K818R |
possibly damaging |
Het |
| Rab3gap1 |
T |
A |
1: 127,853,207 (GRCm39) |
|
probably benign |
Het |
| Rcc1l |
T |
C |
5: 134,184,648 (GRCm39) |
T385A |
probably benign |
Het |
| Rrm2 |
T |
C |
12: 24,758,377 (GRCm39) |
I11T |
probably benign |
Het |
| Scnn1b |
A |
G |
7: 121,501,962 (GRCm39) |
T207A |
possibly damaging |
Het |
| Spata31f3 |
A |
T |
4: 42,874,185 (GRCm39) |
|
probably benign |
Het |
| Syt12 |
T |
A |
19: 4,497,709 (GRCm39) |
|
probably benign |
Het |
| Tmprss6 |
A |
T |
15: 78,330,857 (GRCm39) |
|
probably null |
Het |
| Ttbk1 |
A |
T |
17: 46,790,173 (GRCm39) |
C91S |
probably damaging |
Het |
| Ube2q2l |
T |
C |
6: 136,378,435 (GRCm39) |
T132A |
probably benign |
Het |
| Vit |
A |
G |
17: 78,894,255 (GRCm39) |
H219R |
probably benign |
Het |
| Vmn1r27 |
A |
C |
6: 58,192,812 (GRCm39) |
I14R |
probably damaging |
Het |
|
| Other mutations in Dnajb9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01490:Dnajb9
|
APN |
12 |
44,253,869 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02093:Dnajb9
|
APN |
12 |
44,253,987 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03383:Dnajb9
|
APN |
12 |
44,255,096 (GRCm39) |
splice site |
probably benign |
|
|
R0355:Dnajb9
|
UTSW |
12 |
44,253,987 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0595:Dnajb9
|
UTSW |
12 |
44,255,067 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2191:Dnajb9
|
UTSW |
12 |
44,253,856 (GRCm39) |
missense |
probably benign |
|
|
R7574:Dnajb9
|
UTSW |
12 |
44,254,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8213:Dnajb9
|
UTSW |
12 |
44,253,916 (GRCm39) |
missense |
probably benign |
0.18 |
|
X0067:Dnajb9
|
UTSW |
12 |
44,254,116 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCTTAACATAAGTGAAATCATGC -3'
(R):5'- AGGCAATGGGAGTCCTTTTG -3'
Sequencing Primer
(F):5'- CATGCATTTACCAAAATAGTTCACAG -3'
(R):5'- CAATGGGAGTCCTTTTGAACAGTC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation