Incidental Mutation 'R8961:Dnajb3'
ID |
682320 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnajb3
|
Ensembl Gene |
ENSMUSG00000081984 |
Gene Name |
DnaJ heat shock protein family (Hsp40) member B3 |
Synonyms |
Msj1, Hsj3, MSJ-1 |
MMRRC Submission |
068795-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8961 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
88132454-88133470 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 88132998 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 135
(R135*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112703
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014263]
[ENSMUST00000049289]
[ENSMUST00000058237]
[ENSMUST00000073772]
[ENSMUST00000097659]
[ENSMUST00000113134]
[ENSMUST00000113135]
[ENSMUST00000119972]
[ENSMUST00000113137]
[ENSMUST00000113138]
[ENSMUST00000113139]
[ENSMUST00000113142]
[ENSMUST00000126203]
[ENSMUST00000138182]
[ENSMUST00000140092]
[ENSMUST00000150634]
[ENSMUST00000173325]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000014263
|
SMART Domains |
Protein: ENSMUSP00000014263 Gene: ENSMUSG00000054545
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
Pfam:UDPGT
|
27 |
522 |
1.2e-229 |
PFAM |
Pfam:Glyco_tran_28_C
|
363 |
448 |
1e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000049289
|
SMART Domains |
Protein: ENSMUSP00000037258 Gene: ENSMUSG00000090171
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
Pfam:UDPGT
|
28 |
524 |
2.2e-247 |
PFAM |
Pfam:Glyco_tran_28_C
|
363 |
452 |
4.5e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000058237
|
SMART Domains |
Protein: ENSMUSP00000058683 Gene: ENSMUSG00000090124
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:UDPGT
|
26 |
522 |
1.5e-234 |
PFAM |
Pfam:Glyco_tran_28_C
|
361 |
450 |
4.5e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000073772
|
SMART Domains |
Protein: ENSMUSP00000073444 Gene: ENSMUSG00000090175
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
Pfam:UDPGT
|
24 |
519 |
2.3e-232 |
PFAM |
Pfam:Glyco_tran_28_C
|
358 |
447 |
4.5e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000097659
|
SMART Domains |
Protein: ENSMUSP00000095263 Gene: ENSMUSG00000089943
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Pfam:UDPGT
|
25 |
520 |
6.7e-246 |
PFAM |
Pfam:Glyco_tran_28_C
|
359 |
448 |
1.3e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113134
|
SMART Domains |
Protein: ENSMUSP00000108759 Gene: ENSMUSG00000054545
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
Pfam:UDPGT
|
27 |
522 |
2.7e-232 |
PFAM |
Pfam:Glyco_tran_28_C
|
361 |
450 |
4.5e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113135
|
SMART Domains |
Protein: ENSMUSP00000108760 Gene: ENSMUSG00000090124
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
Pfam:UDPGT
|
27 |
522 |
1.2e-229 |
PFAM |
Pfam:Glyco_tran_28_C
|
363 |
448 |
1e-8 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000119972
AA Change: R135*
|
SMART Domains |
Protein: ENSMUSP00000112703 Gene: ENSMUSG00000081984 AA Change: R135*
Domain | Start | End | E-Value | Type |
DnaJ
|
2 |
61 |
6.22e-33 |
SMART |
low complexity region
|
69 |
81 |
N/A |
INTRINSIC |
low complexity region
|
104 |
119 |
N/A |
INTRINSIC |
low complexity region
|
126 |
138 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113137
|
SMART Domains |
Protein: ENSMUSP00000108762 Gene: ENSMUSG00000090145
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
Pfam:UDPGT
|
27 |
522 |
1.3e-231 |
PFAM |
Pfam:Glyco_tran_28_C
|
361 |
450 |
2.8e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113138
|
SMART Domains |
Protein: ENSMUSP00000108763 Gene: ENSMUSG00000090145
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
Pfam:UDPGT
|
27 |
522 |
7.3e-229 |
PFAM |
Pfam:Glyco_tran_28_C
|
363 |
448 |
6.6e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113139
|
SMART Domains |
Protein: ENSMUSP00000108764 Gene: ENSMUSG00000089675
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:UDPGT
|
26 |
521 |
3.6e-237 |
PFAM |
Pfam:Glyco_tran_28_C
|
360 |
449 |
1.3e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113142
|
SMART Domains |
Protein: ENSMUSP00000108767 Gene: ENSMUSG00000090165
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:UDPGT
|
26 |
521 |
7.3e-231 |
PFAM |
Pfam:Glyco_tran_28_C
|
360 |
449 |
1.3e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126203
|
SMART Domains |
Protein: ENSMUSP00000116653 Gene: ENSMUSG00000090124
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:UDPGT
|
26 |
62 |
4.6e-11 |
PFAM |
Pfam:UDPGT
|
59 |
127 |
8.9e-24 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138182
|
SMART Domains |
Protein: ENSMUSP00000119985 Gene: ENSMUSG00000090165
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:UDPGT
|
26 |
62 |
7e-11 |
PFAM |
Pfam:UDPGT
|
58 |
207 |
1.9e-90 |
PFAM |
Pfam:Glyco_tran_28_C
|
137 |
207 |
4.8e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140092
|
SMART Domains |
Protein: ENSMUSP00000115642 Gene: ENSMUSG00000054545
Domain | Start | End | E-Value | Type |
Pfam:UDPGT
|
1 |
166 |
9.3e-98 |
PFAM |
Pfam:Glyco_tran_28_C
|
96 |
166 |
4.9e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150634
|
SMART Domains |
Protein: ENSMUSP00000123452 Gene: ENSMUSG00000090124
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:UDPGT
|
26 |
62 |
9.5e-11 |
PFAM |
Pfam:UDPGT
|
58 |
207 |
2e-90 |
PFAM |
Pfam:Glyco_tran_28_C
|
137 |
207 |
4.8e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173325
|
SMART Domains |
Protein: ENSMUSP00000134443 Gene: ENSMUSG00000090165
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:UDPGT
|
26 |
61 |
3.4e-10 |
PFAM |
Pfam:UDPGT
|
59 |
210 |
8.9e-92 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
100% (50/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700064H15Rik |
T |
A |
3: 19,664,633 (GRCm39) |
|
probably benign |
Het |
Angptl6 |
T |
C |
9: 20,789,467 (GRCm39) |
T142A |
probably benign |
Het |
Atp6v1b2 |
A |
G |
8: 69,555,414 (GRCm39) |
I202V |
probably benign |
Het |
B3gat2 |
A |
T |
1: 23,801,900 (GRCm39) |
D62V |
probably benign |
Het |
Ccdc180 |
A |
G |
4: 45,929,573 (GRCm39) |
D1211G |
possibly damaging |
Het |
Ccp110 |
T |
G |
7: 118,322,110 (GRCm39) |
D588E |
probably damaging |
Het |
Cdh6 |
A |
T |
15: 13,041,447 (GRCm39) |
I539K |
probably benign |
Het |
Chd5 |
A |
G |
4: 152,467,489 (GRCm39) |
|
probably benign |
Het |
Crim1 |
T |
C |
17: 78,680,117 (GRCm39) |
S953P |
possibly damaging |
Het |
Dennd2a |
T |
C |
6: 39,462,555 (GRCm39) |
K652E |
probably damaging |
Het |
Dnajc25 |
T |
A |
4: 59,020,438 (GRCm39) |
M168K |
|
Het |
Elfn2 |
T |
C |
15: 78,557,378 (GRCm39) |
S390G |
probably benign |
Het |
Ephb6 |
C |
T |
6: 41,590,293 (GRCm39) |
A15V |
probably benign |
Het |
Fam135b |
T |
A |
15: 71,404,812 (GRCm39) |
N78I |
probably damaging |
Het |
Flot2 |
G |
A |
11: 77,945,632 (GRCm39) |
|
probably benign |
Het |
Gm10277 |
T |
A |
11: 77,677,826 (GRCm39) |
|
probably benign |
Het |
Itpr1 |
T |
C |
6: 108,470,666 (GRCm39) |
V2198A |
possibly damaging |
Het |
Kndc1 |
T |
A |
7: 139,503,976 (GRCm39) |
F1093L |
possibly damaging |
Het |
Kndc1 |
C |
T |
7: 139,507,708 (GRCm39) |
S1222F |
possibly damaging |
Het |
Kpna4 |
T |
C |
3: 68,986,821 (GRCm39) |
T523A |
probably benign |
Het |
Krt39 |
T |
C |
11: 99,409,931 (GRCm39) |
D202G |
possibly damaging |
Het |
Loxhd1 |
C |
T |
18: 77,472,765 (GRCm39) |
T985M |
probably damaging |
Het |
Mdc1 |
T |
C |
17: 36,159,407 (GRCm39) |
S596P |
probably benign |
Het |
Misp |
A |
G |
10: 79,663,823 (GRCm39) |
Q599R |
probably benign |
Het |
Mogs |
C |
A |
6: 83,092,720 (GRCm39) |
F53L |
probably benign |
Het |
Mthfr |
A |
T |
4: 148,128,099 (GRCm39) |
N167Y |
probably damaging |
Het |
Nod1 |
C |
T |
6: 54,926,461 (GRCm39) |
E53K |
probably damaging |
Het |
Or1j11 |
A |
T |
2: 36,312,177 (GRCm39) |
I256F |
probably damaging |
Het |
Or52l1 |
A |
G |
7: 104,830,376 (GRCm39) |
I48T |
possibly damaging |
Het |
Or5m5 |
T |
A |
2: 85,814,610 (GRCm39) |
M142K |
probably damaging |
Het |
Or6c5c |
C |
T |
10: 129,299,225 (GRCm39) |
P227S |
probably damaging |
Het |
Or6z5 |
T |
C |
7: 6,477,763 (GRCm39) |
V218A |
probably benign |
Het |
Pkd1l2 |
A |
G |
8: 117,726,717 (GRCm39) |
I2263T |
possibly damaging |
Het |
Rbbp8 |
T |
C |
18: 11,865,262 (GRCm39) |
M717T |
probably benign |
Het |
Rest |
A |
G |
5: 77,416,482 (GRCm39) |
H232R |
probably damaging |
Het |
Rps6ka1 |
A |
G |
4: 133,587,362 (GRCm39) |
|
probably null |
Het |
Rtf1 |
T |
A |
2: 119,557,377 (GRCm39) |
F465I |
probably benign |
Het |
Skil |
T |
C |
3: 31,167,729 (GRCm39) |
S454P |
probably benign |
Het |
Snx13 |
T |
C |
12: 35,155,285 (GRCm39) |
Y450H |
probably damaging |
Het |
Spef2 |
T |
A |
15: 9,647,414 (GRCm39) |
E971V |
possibly damaging |
Het |
Sqle |
T |
A |
15: 59,187,695 (GRCm39) |
M1K |
probably null |
Het |
Srcap |
C |
G |
7: 127,141,101 (GRCm39) |
P1566R |
probably damaging |
Het |
Stxbp5l |
ATTTT |
ATTTTT |
16: 37,036,414 (GRCm39) |
|
probably null |
Het |
Tmc3 |
T |
C |
7: 83,256,970 (GRCm39) |
Y408H |
probably damaging |
Het |
Uba2 |
A |
T |
7: 33,855,642 (GRCm39) |
|
probably benign |
Het |
Unc13c |
G |
T |
9: 73,839,524 (GRCm39) |
N442K |
probably benign |
Het |
Vmn1r21 |
T |
A |
6: 57,820,829 (GRCm39) |
H205L |
probably damaging |
Het |
Vwa7 |
C |
T |
17: 35,238,086 (GRCm39) |
T229I |
probably damaging |
Het |
Washc4 |
A |
G |
10: 83,409,657 (GRCm39) |
D602G |
probably damaging |
Het |
Zcchc9 |
C |
A |
13: 91,953,955 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Dnajb3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02473:Dnajb3
|
APN |
1 |
88,133,104 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02489:Dnajb3
|
APN |
1 |
88,133,032 (GRCm39) |
missense |
probably benign |
0.37 |
IGL02726:Dnajb3
|
APN |
1 |
88,133,372 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02733:Dnajb3
|
APN |
1 |
88,132,662 (GRCm39) |
intron |
probably benign |
|
IGL02867:Dnajb3
|
APN |
1 |
88,133,249 (GRCm39) |
missense |
probably benign |
0.43 |
R1235:Dnajb3
|
UTSW |
1 |
88,133,201 (GRCm39) |
missense |
probably benign |
0.03 |
R3154:Dnajb3
|
UTSW |
1 |
88,132,773 (GRCm39) |
missense |
probably benign |
0.22 |
R4232:Dnajb3
|
UTSW |
1 |
88,132,974 (GRCm39) |
missense |
possibly damaging |
0.75 |
R4718:Dnajb3
|
UTSW |
1 |
88,133,061 (GRCm39) |
missense |
probably benign |
0.13 |
R5033:Dnajb3
|
UTSW |
1 |
88,132,745 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6393:Dnajb3
|
UTSW |
1 |
88,133,384 (GRCm39) |
missense |
possibly damaging |
0.64 |
R6980:Dnajb3
|
UTSW |
1 |
88,132,736 (GRCm39) |
missense |
probably damaging |
1.00 |
R7789:Dnajb3
|
UTSW |
1 |
88,133,399 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CACCGACTTGTAGTTGCCTG -3'
(R):5'- TACGAGGTCTTATCGGACGTC -3'
Sequencing Primer
(F):5'- TGTAGTTGCCTGCCGCC -3'
(R):5'- CAAGCGCGAGGTGTACGAC -3'
|
Posted On |
2021-08-31 |