Incidental Mutation 'R5075:Dnajc21'
| ID |
462793 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnajc21
|
| Ensembl Gene |
ENSMUSG00000044224 |
| Gene Name |
DnaJ heat shock protein family (Hsp40) member C21 |
| Synonyms |
4930461P20Rik, 9930116P15Rik |
| MMRRC Submission |
042664-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.366)
|
| Stock # |
R5075 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
10446842-10470602 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 10461963 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 146
(T146K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116865
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000136591]
|
| AlphaFold |
E9Q8D0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136591
AA Change: T146K
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000116865
Gene: ENSMUSG00000044224
AA Change: T146K
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
2 |
61 |
7.2e-29 |
SMART |
|
coiled coil region
|
178 |
283 |
N/A |
INTRINSIC |
|
ZnF_U1
|
311 |
345 |
5.3e-8 |
SMART |
|
ZnF_C2H2
|
314 |
338 |
1.67e-2 |
SMART |
|
low complexity region
|
379 |
393 |
N/A |
INTRINSIC |
|
low complexity region
|
452 |
470 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
483 |
507 |
5.34e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145719
|
| SMART Domains |
Protein: ENSMUSP00000116192
Gene: ENSMUSG00000044224
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
26 |
131 |
N/A |
INTRINSIC |
|
ZnF_U1
|
160 |
194 |
5.3e-8 |
SMART |
|
ZnF_C2H2
|
163 |
187 |
1.67e-2 |
SMART |
|
low complexity region
|
228 |
242 |
N/A |
INTRINSIC |
|
low complexity region
|
301 |
319 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
332 |
356 |
5.34e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147224
|
| Meta Mutation Damage Score |
0.0840 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.3%
|
| Validation Efficiency |
100% (57/57) |
| 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 proteins that is characterized by two N-terminal tetratricopeptide repeat domains and a C-terminal DNAJ domain. This protein binds the precursor 45S ribosomal RNA and may be involved in early nuclear ribosomal RNA biogenesis and maturation of the 60S ribosomal subunit. Mutations in this gene result in Bone marrow failure syndrome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2017]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
A |
G |
3: 116,587,456 (GRCm39) |
F33S |
probably damaging |
Het |
| Atf7ip |
A |
G |
6: 136,537,232 (GRCm39) |
D163G |
probably benign |
Het |
| Cep85 |
C |
A |
4: 133,859,678 (GRCm39) |
D662Y |
probably damaging |
Het |
| Cntn6 |
T |
A |
6: 104,809,991 (GRCm39) |
S558T |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,958,731 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
T |
A |
17: 31,019,505 (GRCm39) |
N3859K |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,833,351 (GRCm39) |
E1957G |
unknown |
Het |
| Esm1 |
A |
G |
13: 113,349,892 (GRCm39) |
Y104C |
probably damaging |
Het |
| Fkbp15 |
T |
C |
4: 62,239,266 (GRCm39) |
K613R |
probably damaging |
Het |
| Gm10722 |
A |
C |
9: 3,001,041 (GRCm39) |
Y39S |
probably benign |
Het |
| Gm5592 |
A |
G |
7: 40,808,387 (GRCm39) |
|
probably benign |
Het |
| Hdac4 |
A |
G |
1: 91,923,842 (GRCm39) |
S223P |
probably benign |
Het |
| Hypk |
A |
G |
2: 121,286,111 (GRCm39) |
|
probably benign |
Het |
| Kpna1 |
T |
A |
16: 35,829,722 (GRCm39) |
F70I |
probably damaging |
Het |
| Lrp2 |
A |
G |
2: 69,296,102 (GRCm39) |
Y3336H |
probably benign |
Het |
| Mier1 |
A |
G |
4: 102,996,670 (GRCm39) |
D99G |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,754,794 (GRCm38) |
|
probably benign |
Het |
| Nup160 |
A |
G |
2: 90,530,518 (GRCm39) |
E463G |
probably damaging |
Het |
| Or5b121 |
T |
A |
19: 13,507,637 (GRCm39) |
M244K |
probably benign |
Het |
| Peg3 |
A |
T |
7: 6,711,419 (GRCm39) |
C1268S |
probably damaging |
Het |
| Recql4 |
G |
A |
15: 76,593,744 (GRCm39) |
P122L |
probably damaging |
Het |
| Rex2 |
A |
T |
4: 147,142,151 (GRCm39) |
Q213L |
possibly damaging |
Het |
| Rnf25 |
A |
G |
1: 74,634,803 (GRCm39) |
V73A |
probably benign |
Het |
| Sacm1l |
A |
G |
9: 123,411,327 (GRCm39) |
D372G |
probably benign |
Het |
| Selplg |
T |
C |
5: 113,958,045 (GRCm39) |
D87G |
probably benign |
Het |
| Sgsh |
G |
A |
11: 119,237,594 (GRCm39) |
T340M |
probably benign |
Het |
| Slc4a3 |
A |
T |
1: 75,534,012 (GRCm39) |
I1120F |
probably damaging |
Het |
| Snrnp40 |
T |
C |
4: 130,282,375 (GRCm39) |
Y311H |
probably benign |
Het |
| Spata31e2 |
T |
C |
1: 26,722,133 (GRCm39) |
K1016E |
probably damaging |
Het |
| Stard7 |
A |
T |
2: 127,111,879 (GRCm39) |
|
probably benign |
Het |
| Stat1 |
A |
T |
1: 52,161,871 (GRCm39) |
K40M |
possibly damaging |
Het |
| Sun1 |
T |
C |
5: 139,212,646 (GRCm39) |
|
probably null |
Het |
| Tet2 |
T |
A |
3: 133,192,667 (GRCm39) |
Q589L |
probably benign |
Het |
| Tmc7 |
A |
T |
7: 118,151,919 (GRCm39) |
|
probably null |
Het |
| Tmt1b |
A |
G |
10: 128,796,549 (GRCm39) |
F87L |
probably damaging |
Het |
| Unc79 |
A |
T |
12: 103,041,213 (GRCm39) |
I749F |
possibly damaging |
Het |
| Ust |
A |
G |
10: 8,393,988 (GRCm39) |
F59S |
probably damaging |
Het |
| Wdr81 |
A |
T |
11: 75,343,307 (GRCm39) |
D653E |
probably benign |
Het |
| Zfat |
A |
G |
15: 68,052,079 (GRCm39) |
S572P |
probably benign |
Het |
| Zmynd15 |
G |
C |
11: 70,352,946 (GRCm39) |
E143D |
probably damaging |
Het |
| Zzef1 |
A |
G |
11: 72,749,170 (GRCm39) |
E886G |
probably damaging |
Het |
|
| Other mutations in Dnajc21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01321:Dnajc21
|
APN |
15 |
10,447,188 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02797:Dnajc21
|
APN |
15 |
10,461,441 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0032:Dnajc21
|
UTSW |
15 |
10,461,963 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0032:Dnajc21
|
UTSW |
15 |
10,461,963 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1480:Dnajc21
|
UTSW |
15 |
10,460,037 (GRCm39) |
splice site |
probably null |
|
|
R1694:Dnajc21
|
UTSW |
15 |
10,451,649 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1777:Dnajc21
|
UTSW |
15 |
10,449,693 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2420:Dnajc21
|
UTSW |
15 |
10,462,021 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2421:Dnajc21
|
UTSW |
15 |
10,462,021 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2422:Dnajc21
|
UTSW |
15 |
10,462,021 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4065:Dnajc21
|
UTSW |
15 |
10,451,639 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4182:Dnajc21
|
UTSW |
15 |
10,460,019 (GRCm39) |
splice site |
probably null |
|
|
R4546:Dnajc21
|
UTSW |
15 |
10,447,183 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4644:Dnajc21
|
UTSW |
15 |
10,464,003 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4939:Dnajc21
|
UTSW |
15 |
10,449,683 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5187:Dnajc21
|
UTSW |
15 |
10,464,050 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5273:Dnajc21
|
UTSW |
15 |
10,454,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5590:Dnajc21
|
UTSW |
15 |
10,462,363 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5643:Dnajc21
|
UTSW |
15 |
10,462,001 (GRCm39) |
missense |
probably benign |
|
|
R5644:Dnajc21
|
UTSW |
15 |
10,462,001 (GRCm39) |
missense |
probably benign |
|
|
R5729:Dnajc21
|
UTSW |
15 |
10,449,682 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6614:Dnajc21
|
UTSW |
15 |
10,470,349 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6815:Dnajc21
|
UTSW |
15 |
10,447,777 (GRCm39) |
splice site |
probably null |
|
|
R7016:Dnajc21
|
UTSW |
15 |
10,461,493 (GRCm39) |
nonsense |
probably null |
|
|
R7076:Dnajc21
|
UTSW |
15 |
10,449,717 (GRCm39) |
missense |
probably benign |
|
|
R7584:Dnajc21
|
UTSW |
15 |
10,462,381 (GRCm39) |
nonsense |
probably null |
|
|
R7624:Dnajc21
|
UTSW |
15 |
10,461,320 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7624:Dnajc21
|
UTSW |
15 |
10,461,318 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7676:Dnajc21
|
UTSW |
15 |
10,462,430 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7788:Dnajc21
|
UTSW |
15 |
10,460,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7845:Dnajc21
|
UTSW |
15 |
10,447,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8552:Dnajc21
|
UTSW |
15 |
10,464,005 (GRCm39) |
nonsense |
probably null |
|
|
R9174:Dnajc21
|
UTSW |
15 |
10,462,076 (GRCm39) |
nonsense |
probably null |
|
|
R9416:Dnajc21
|
UTSW |
15 |
10,462,048 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9566:Dnajc21
|
UTSW |
15 |
10,464,019 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGCTGGCTAGAAAGACTGTAG -3'
(R):5'- ACTCGAGGTAGTGAGAGCTG -3'
Sequencing Primer
(F):5'- GACTGTAGAAAGAGACTACTACAACC -3'
(R):5'- TTGTACTGCCTCAGCACTAAAG -3'
|
| Posted On |
2017-03-03 |
Incidental Mutation