Incidental Mutation 'R4232:Dnajb3'
ID |
320889 |
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 |
041051-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4232 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
88132454-88133470 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 88132974 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 143
(S143P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112703
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014263]
[ENSMUST00000049289]
[ENSMUST00000058237]
[ENSMUST00000073772]
[ENSMUST00000097659]
[ENSMUST00000113134]
[ENSMUST00000119972]
[ENSMUST00000140092]
[ENSMUST00000113139]
[ENSMUST00000138182]
[ENSMUST00000126203]
[ENSMUST00000113135]
[ENSMUST00000113142]
[ENSMUST00000113137]
[ENSMUST00000113138]
[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 |
possibly damaging
Transcript: ENSMUST00000119972
AA Change: S143P
PolyPhen 2
Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000112703 Gene: ENSMUSG00000081984 AA Change: S143P
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 |
noncoding transcript
Transcript: ENSMUST00000124852
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173165
|
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: 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: 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: 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: 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 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: 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: 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 |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
92% (58/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
Ajuba |
T |
C |
14: 54,806,983 (GRCm39) |
R490G |
probably damaging |
Het |
Akap6 |
T |
A |
12: 53,186,454 (GRCm39) |
N1289K |
probably damaging |
Het |
Arhgap21 |
A |
G |
2: 20,891,948 (GRCm39) |
V161A |
probably damaging |
Het |
Atg14 |
T |
C |
14: 47,788,802 (GRCm39) |
K184E |
probably benign |
Het |
Aven |
A |
G |
2: 112,458,113 (GRCm39) |
D167G |
probably damaging |
Het |
Celsr2 |
A |
G |
3: 108,321,088 (GRCm39) |
F575L |
probably benign |
Het |
Cflar |
A |
T |
1: 58,780,152 (GRCm39) |
Q249L |
possibly damaging |
Het |
Col7a1 |
G |
A |
9: 108,801,881 (GRCm39) |
|
probably null |
Het |
Dmxl2 |
T |
C |
9: 54,327,193 (GRCm39) |
D944G |
possibly damaging |
Het |
Dnah1 |
T |
C |
14: 31,026,873 (GRCm39) |
N717S |
probably benign |
Het |
Dnaja3 |
T |
A |
16: 4,517,735 (GRCm39) |
N322K |
possibly damaging |
Het |
Dtx3 |
A |
G |
10: 127,029,058 (GRCm39) |
I60T |
possibly damaging |
Het |
Dvl3 |
A |
G |
16: 20,342,983 (GRCm39) |
|
probably benign |
Het |
Fkbp7 |
A |
T |
2: 76,493,661 (GRCm39) |
D177E |
possibly damaging |
Het |
Galnt7 |
T |
C |
8: 58,106,000 (GRCm39) |
I5V |
probably benign |
Het |
Garin3 |
C |
A |
11: 46,298,232 (GRCm39) |
T512K |
possibly damaging |
Het |
Helz2 |
A |
T |
2: 180,871,695 (GRCm39) |
L2639Q |
probably damaging |
Het |
Hnrnpr |
T |
C |
4: 136,066,500 (GRCm39) |
M394T |
probably benign |
Het |
Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
Kif14 |
T |
A |
1: 136,444,101 (GRCm39) |
C1364* |
probably null |
Het |
Macf1 |
T |
C |
4: 123,326,185 (GRCm39) |
E5104G |
probably damaging |
Het |
Mrps30 |
T |
C |
13: 118,523,376 (GRCm39) |
D132G |
probably damaging |
Het |
Mrtfa |
T |
A |
15: 80,907,796 (GRCm39) |
K29M |
probably damaging |
Het |
Mtbp |
CATGA |
CATGAATGA |
15: 55,484,073 (GRCm39) |
|
probably null |
Het |
Nfkb1 |
A |
G |
3: 135,309,531 (GRCm39) |
V521A |
probably damaging |
Het |
Or2b7 |
T |
C |
13: 21,739,631 (GRCm39) |
D187G |
probably damaging |
Het |
Or7g32 |
G |
T |
9: 19,389,022 (GRCm39) |
L175M |
probably damaging |
Het |
P2rx6 |
T |
C |
16: 17,388,631 (GRCm39) |
L335P |
probably damaging |
Het |
Pcdhga5 |
A |
G |
18: 37,829,001 (GRCm39) |
D483G |
possibly damaging |
Het |
Pgpep1l |
T |
C |
7: 67,886,827 (GRCm39) |
T161A |
probably benign |
Het |
Prss40 |
A |
G |
1: 34,599,873 (GRCm39) |
V38A |
probably benign |
Het |
Ptk2 |
C |
A |
15: 73,181,698 (GRCm39) |
R104L |
possibly damaging |
Het |
Ralgapa1 |
C |
T |
12: 55,687,429 (GRCm39) |
R2019Q |
probably damaging |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Rtp4 |
A |
G |
16: 23,431,833 (GRCm39) |
N122D |
possibly damaging |
Het |
Samd8 |
A |
G |
14: 21,830,213 (GRCm39) |
Y213C |
probably benign |
Het |
Shcbp1 |
T |
A |
8: 4,786,372 (GRCm39) |
T577S |
probably benign |
Het |
Tiprl |
A |
G |
1: 165,050,156 (GRCm39) |
V153A |
probably damaging |
Het |
Tmprss7 |
A |
T |
16: 45,476,936 (GRCm39) |
D775E |
probably damaging |
Het |
Tnr |
T |
C |
1: 159,713,785 (GRCm39) |
S738P |
possibly damaging |
Het |
Tsc22d4 |
T |
C |
5: 137,749,632 (GRCm39) |
|
probably null |
Het |
Ttc21a |
A |
T |
9: 119,771,684 (GRCm39) |
H161L |
probably benign |
Het |
Ubqln3 |
T |
A |
7: 103,791,010 (GRCm39) |
E360V |
probably benign |
Het |
Ugt1a10 |
C |
A |
1: 87,983,932 (GRCm39) |
D243E |
probably benign |
Het |
Vmn2r19 |
G |
A |
6: 123,306,871 (GRCm39) |
V460I |
probably benign |
Het |
Vmn2r58 |
T |
A |
7: 41,487,011 (GRCm39) |
Y628F |
possibly damaging |
Het |
Wnk1 |
A |
T |
6: 119,926,222 (GRCm39) |
S1588T |
possibly damaging |
Het |
Wscd2 |
A |
G |
5: 113,699,045 (GRCm39) |
D200G |
probably benign |
Het |
Zfp831 |
G |
C |
2: 174,547,447 (GRCm39) |
W1543C |
possibly damaging |
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 |
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 |
R8961:Dnajb3
|
UTSW |
1 |
88,132,998 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATCAGGGACTTTAACTCTCCATC -3'
(R):5'- ACGATGCCTTCCAGTACGTC -3'
Sequencing Primer
(F):5'- ATTCTCAACGATTCTCTTGGTGG -3'
(R):5'- AGTACGTCTTCTCCTTCCGAG -3'
|
Posted On |
2015-06-12 |