Incidental Mutation 'R9527:Dnajc5b'
| ID |
719300 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnajc5b
|
| Ensembl Gene |
ENSMUSG00000027606 |
| Gene Name |
DnaJ heat shock protein family (Hsp40) member C5 beta |
| Synonyms |
1700008A05Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9527 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
19562759-19665026 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 19633248 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 157
(D157V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029132
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029132]
[ENSMUST00000118735]
[ENSMUST00000118968]
[ENSMUST00000165693]
|
| AlphaFold |
Q9CQ94 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029132
AA Change: D157V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029132
Gene: ENSMUSG00000027606
AA Change: D157V
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
18 |
76 |
2.12e-26 |
SMART |
|
transmembrane domain
|
112 |
134 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118735
AA Change: D157V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113414
Gene: ENSMUSG00000027606
AA Change: D157V
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
18 |
76 |
2.12e-26 |
SMART |
|
transmembrane domain
|
112 |
134 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118968
AA Change: D157V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112849
Gene: ENSMUSG00000027606
AA Change: D157V
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
18 |
76 |
2.12e-26 |
SMART |
|
transmembrane domain
|
112 |
134 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165693
AA Change: D157V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127515
Gene: ENSMUSG00000027606
AA Change: D157V
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
18 |
76 |
2.12e-26 |
SMART |
|
transmembrane domain
|
112 |
134 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DNAJ heat shock protein 40 family of co-chaperone proteins that is characterized by an N-terminal DNAJ domain, a linker region, and a cysteine-rich C-terminal domain. The encoded protein, together with heat shock protein 70, is thought to regulate the proper folding of other proteins. The orthologous mouse protein is membrane-associated and is targeted to the trans-golgi network. [provided by RefSeq, Mar 2017]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acoxl |
A |
G |
2: 127,886,284 (GRCm39) |
D453G |
probably benign |
Het |
| Aqr |
A |
C |
2: 113,932,037 (GRCm39) |
S1443R |
probably benign |
Het |
| Atr |
T |
C |
9: 95,767,429 (GRCm39) |
M1162T |
probably damaging |
Het |
| Bicdl1 |
T |
A |
5: 115,811,188 (GRCm39) |
N241I |
possibly damaging |
Het |
| Catip |
A |
G |
1: 74,401,637 (GRCm39) |
N38S |
probably benign |
Het |
| Cct6b |
A |
G |
11: 82,630,447 (GRCm39) |
|
probably null |
Het |
| Clspn |
A |
T |
4: 126,453,792 (GRCm39) |
R72* |
probably null |
Het |
| Cntln |
A |
G |
4: 84,892,120 (GRCm39) |
Q335R |
probably damaging |
Het |
| Col9a2 |
T |
C |
4: 120,899,528 (GRCm39) |
|
probably null |
Het |
| Dip2c |
A |
G |
13: 9,544,875 (GRCm39) |
N55D |
unknown |
Het |
| Exoc6 |
T |
G |
19: 37,558,987 (GRCm39) |
D86E |
probably benign |
Het |
| Fam204a |
A |
T |
19: 60,208,992 (GRCm39) |
H87Q |
probably damaging |
Het |
| Fer1l4 |
A |
G |
2: 155,871,617 (GRCm39) |
W1388R |
probably damaging |
Het |
| Hcn2 |
A |
T |
10: 79,570,706 (GRCm39) |
I642F |
probably benign |
Het |
| Igsf9 |
C |
A |
1: 172,323,244 (GRCm39) |
L653M |
probably damaging |
Het |
| Imp4 |
A |
G |
1: 34,481,991 (GRCm39) |
E38G |
probably benign |
Het |
| Kirrel1 |
C |
A |
3: 86,996,912 (GRCm39) |
E297* |
probably null |
Het |
| Krt82 |
G |
A |
15: 101,454,558 (GRCm39) |
T222I |
probably benign |
Het |
| Lysmd1 |
T |
C |
3: 95,042,156 (GRCm39) |
L10P |
probably benign |
Het |
| Mcmbp |
A |
G |
7: 128,305,242 (GRCm39) |
S509P |
probably damaging |
Het |
| Mms19 |
A |
T |
19: 41,952,830 (GRCm39) |
I93N |
possibly damaging |
Het |
| Mtmr7 |
A |
G |
8: 41,011,345 (GRCm39) |
F402L |
possibly damaging |
Het |
| Myo1h |
C |
T |
5: 114,453,098 (GRCm39) |
R49C |
|
Het |
| Scd3 |
T |
C |
19: 44,226,816 (GRCm39) |
Y217H |
probably benign |
Het |
| Snx17 |
T |
C |
5: 31,353,826 (GRCm39) |
Y205H |
probably damaging |
Het |
| Spag17 |
T |
A |
3: 99,970,777 (GRCm39) |
D1320E |
probably damaging |
Het |
| Tasor2 |
A |
T |
13: 3,635,191 (GRCm39) |
S539T |
possibly damaging |
Het |
| Xirp1 |
C |
A |
9: 119,847,558 (GRCm39) |
V442L |
probably damaging |
Het |
| Xrcc5 |
G |
A |
1: 72,369,091 (GRCm39) |
R315H |
probably damaging |
Het |
| Yju2b |
A |
T |
8: 84,989,652 (GRCm39) |
C56S |
probably damaging |
Het |
| Zc3hav1 |
C |
A |
6: 38,330,913 (GRCm39) |
C82F |
probably damaging |
Het |
| Zfp787 |
A |
G |
7: 6,136,027 (GRCm39) |
F75L |
probably damaging |
Het |
| Zswim3 |
C |
T |
2: 164,662,285 (GRCm39) |
T255I |
probably damaging |
Het |
|
| Other mutations in Dnajc5b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1630:Dnajc5b
|
UTSW |
3 |
19,628,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1714:Dnajc5b
|
UTSW |
3 |
19,633,265 (GRCm39) |
nonsense |
probably null |
|
|
R3011:Dnajc5b
|
UTSW |
3 |
19,600,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3859:Dnajc5b
|
UTSW |
3 |
19,628,966 (GRCm39) |
nonsense |
probably null |
|
|
R5268:Dnajc5b
|
UTSW |
3 |
19,633,224 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5281:Dnajc5b
|
UTSW |
3 |
19,664,724 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5337:Dnajc5b
|
UTSW |
3 |
19,628,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5929:Dnajc5b
|
UTSW |
3 |
19,601,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7081:Dnajc5b
|
UTSW |
3 |
19,601,025 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7770:Dnajc5b
|
UTSW |
3 |
19,633,181 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7782:Dnajc5b
|
UTSW |
3 |
19,629,006 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8369:Dnajc5b
|
UTSW |
3 |
19,664,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8790:Dnajc5b
|
UTSW |
3 |
19,600,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8905:Dnajc5b
|
UTSW |
3 |
19,633,184 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGACTTCACTTGGCCTCTG -3'
(R):5'- CACAGGCAGTTCATAGTTTCTC -3'
Sequencing Primer
(F):5'- GGCCTCTGTTTACCCTAGAC -3'
(R):5'- GCTCAGTCAAGATAAATGTCCTTTG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation