Incidental Mutation 'R8684:Dnajc11'
ID |
661937 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnajc11
|
Ensembl Gene |
ENSMUSG00000039768 |
Gene Name |
DnaJ heat shock protein family (Hsp40) member C11 |
Synonyms |
E030019A03Rik |
MMRRC Submission |
068539-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.962)
|
Stock # |
R8684 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
152018177-152066416 bp(+) (GRCm39) |
Type of Mutation |
makesense |
DNA Base Change (assembly) |
T to C
at 152065183 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Stop codon to Glutamine
at position 560
(*560Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000051643
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036680]
[ENSMUST00000062904]
[ENSMUST00000105665]
[ENSMUST00000139069]
|
AlphaFold |
Q5U458 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036680
|
SMART Domains |
Protein: ENSMUSP00000035240 Gene: ENSMUSG00000039759
Domain | Start | End | E-Value | Type |
THAP
|
3 |
88 |
5.28e-19 |
SMART |
DM3
|
23 |
87 |
6.96e-21 |
SMART |
coiled coil region
|
166 |
189 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000062904
AA Change: *560Q
|
SMART Domains |
Protein: ENSMUSP00000051643 Gene: ENSMUSG00000039768 AA Change: *560Q
Domain | Start | End | E-Value | Type |
DnaJ
|
13 |
74 |
4.41e-24 |
SMART |
low complexity region
|
102 |
122 |
N/A |
INTRINSIC |
Pfam:DUF3395
|
410 |
549 |
2e-50 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105665
|
SMART Domains |
Protein: ENSMUSP00000101290 Gene: ENSMUSG00000039759
Domain | Start | End | E-Value | Type |
THAP
|
3 |
88 |
5.28e-19 |
SMART |
DM3
|
23 |
87 |
6.96e-21 |
SMART |
coiled coil region
|
132 |
155 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139069
|
SMART Domains |
Protein: ENSMUSP00000119604 Gene: ENSMUSG00000039768
Domain | Start | End | E-Value | Type |
DnaJ
|
13 |
74 |
4.41e-24 |
SMART |
low complexity region
|
102 |
122 |
N/A |
INTRINSIC |
coiled coil region
|
318 |
349 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
100% (47/47) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU mutation exhibit motor neuron pathology, disorganized cristae and lymphoid abnormalities. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933421I07Rik |
C |
T |
7: 42,097,413 (GRCm39) |
R27H |
probably benign |
Het |
Abca2 |
T |
A |
2: 25,336,508 (GRCm39) |
L2229Q |
possibly damaging |
Het |
Adamts4 |
A |
T |
1: 171,086,541 (GRCm39) |
T778S |
probably damaging |
Het |
AY358078 |
T |
G |
14: 52,059,597 (GRCm39) |
Y311* |
probably null |
Het |
Catsperg1 |
C |
T |
7: 28,897,825 (GRCm39) |
V181M |
probably damaging |
Het |
Cdcp3 |
C |
A |
7: 130,837,688 (GRCm39) |
S528* |
probably null |
Het |
Cep70 |
A |
G |
9: 99,145,842 (GRCm39) |
K170E |
possibly damaging |
Het |
Coro1b |
T |
A |
19: 4,199,527 (GRCm39) |
V62E |
probably damaging |
Het |
Eci3 |
T |
C |
13: 35,143,874 (GRCm39) |
N84D |
probably damaging |
Het |
F5 |
T |
A |
1: 164,045,111 (GRCm39) |
V2133E |
probably benign |
Het |
Fancl |
C |
A |
11: 26,420,826 (GRCm39) |
P116Q |
|
Het |
Gm10801 |
ATTTTCAGTTTTCTTGCCATATTCCACGTCCTGCACTGGACATTTCTAAATTTTCCACCTTTTTCAGTTTTC |
ATTTTCAGTTTTC |
2: 98,492,669 (GRCm39) |
|
probably null |
Het |
Golgb1 |
C |
T |
16: 36,734,764 (GRCm39) |
T1378M |
possibly damaging |
Het |
Hdac5 |
T |
C |
11: 102,096,147 (GRCm39) |
N342S |
probably benign |
Het |
Herc3 |
A |
G |
6: 58,864,561 (GRCm39) |
K732E |
probably damaging |
Het |
Lce1e |
A |
T |
3: 92,615,269 (GRCm39) |
I26N |
unknown |
Het |
Lingo1 |
T |
C |
9: 56,528,106 (GRCm39) |
Y167C |
probably damaging |
Het |
Loxl3 |
A |
G |
6: 83,012,566 (GRCm39) |
E35G |
probably benign |
Het |
Mmp13 |
A |
G |
9: 7,282,089 (GRCm39) |
M464V |
possibly damaging |
Het |
Mov10 |
T |
C |
3: 104,711,690 (GRCm39) |
H199R |
probably benign |
Het |
Nbas |
A |
G |
12: 13,386,368 (GRCm39) |
T765A |
probably damaging |
Het |
Nlgn3 |
C |
T |
X: 100,363,425 (GRCm39) |
R679* |
probably null |
Het |
Nrp1 |
C |
T |
8: 129,085,885 (GRCm39) |
|
probably benign |
Het |
Nup88 |
C |
A |
11: 70,860,687 (GRCm39) |
V31L |
probably benign |
Het |
Or2r11 |
T |
C |
6: 42,437,827 (GRCm39) |
N42S |
probably damaging |
Het |
Or5d39 |
T |
C |
2: 87,979,872 (GRCm39) |
T164A |
probably benign |
Het |
Or7a36 |
A |
T |
10: 78,820,212 (GRCm39) |
D196V |
probably benign |
Het |
Pah |
A |
G |
10: 87,414,827 (GRCm39) |
N393S |
probably benign |
Het |
Peli3 |
T |
C |
19: 4,985,022 (GRCm39) |
Y163C |
probably damaging |
Het |
Rasgef1b |
A |
T |
5: 99,524,994 (GRCm39) |
M55K |
probably benign |
Het |
Ror2 |
T |
C |
13: 53,264,302 (GRCm39) |
D930G |
possibly damaging |
Het |
Rpgrip1l |
T |
G |
8: 92,000,329 (GRCm39) |
M537L |
probably benign |
Het |
Ryr2 |
A |
T |
13: 11,702,875 (GRCm39) |
V2871E |
probably damaging |
Het |
Smco1 |
A |
T |
16: 32,092,841 (GRCm39) |
N171Y |
probably damaging |
Het |
Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
Sox2 |
T |
A |
3: 34,705,016 (GRCm39) |
L151Q |
probably benign |
Het |
Spink5 |
A |
G |
18: 44,143,305 (GRCm39) |
E754G |
probably benign |
Het |
Sulf1 |
A |
T |
1: 12,867,004 (GRCm39) |
M63L |
probably benign |
Het |
Traf2 |
A |
G |
2: 25,410,458 (GRCm39) |
M390T |
probably damaging |
Het |
Trav13d-4 |
T |
C |
14: 53,310,266 (GRCm39) |
V16A |
probably damaging |
Het |
Trmo |
C |
T |
4: 46,386,251 (GRCm39) |
W84* |
probably null |
Het |
Trmo |
T |
C |
4: 46,386,253 (GRCm39) |
|
probably null |
Het |
Ttyh1 |
T |
A |
7: 4,133,791 (GRCm39) |
|
probably benign |
Het |
Ush2a |
A |
G |
1: 188,643,220 (GRCm39) |
N4194S |
possibly damaging |
Het |
Vmn2r45 |
T |
C |
7: 8,486,511 (GRCm39) |
Y259C |
probably damaging |
Het |
Vmn2r94 |
T |
A |
17: 18,497,912 (GRCm39) |
|
probably benign |
Het |
Zfp101 |
A |
G |
17: 33,600,977 (GRCm39) |
S260P |
possibly damaging |
Het |
|
Other mutations in Dnajc11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01769:Dnajc11
|
APN |
4 |
152,063,759 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02253:Dnajc11
|
APN |
4 |
152,034,976 (GRCm39) |
nonsense |
probably null |
|
IGL02606:Dnajc11
|
APN |
4 |
152,063,941 (GRCm39) |
missense |
probably benign |
0.18 |
IGL02969:Dnajc11
|
APN |
4 |
152,062,503 (GRCm39) |
missense |
probably benign |
0.33 |
IGL03062:Dnajc11
|
APN |
4 |
152,055,318 (GRCm39) |
missense |
possibly damaging |
0.92 |
PIT4812001:Dnajc11
|
UTSW |
4 |
152,037,346 (GRCm39) |
missense |
probably benign |
0.04 |
R0601:Dnajc11
|
UTSW |
4 |
152,054,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R0620:Dnajc11
|
UTSW |
4 |
152,058,085 (GRCm39) |
missense |
possibly damaging |
0.54 |
R0639:Dnajc11
|
UTSW |
4 |
152,054,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R1694:Dnajc11
|
UTSW |
4 |
152,063,730 (GRCm39) |
missense |
probably damaging |
1.00 |
R4091:Dnajc11
|
UTSW |
4 |
152,062,550 (GRCm39) |
unclassified |
probably benign |
|
R4545:Dnajc11
|
UTSW |
4 |
152,064,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R4548:Dnajc11
|
UTSW |
4 |
152,058,074 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4720:Dnajc11
|
UTSW |
4 |
152,052,996 (GRCm39) |
missense |
probably damaging |
1.00 |
R4732:Dnajc11
|
UTSW |
4 |
152,055,424 (GRCm39) |
unclassified |
probably benign |
|
R4751:Dnajc11
|
UTSW |
4 |
152,052,999 (GRCm39) |
missense |
probably benign |
0.01 |
R4895:Dnajc11
|
UTSW |
4 |
152,064,390 (GRCm39) |
missense |
probably damaging |
1.00 |
R5122:Dnajc11
|
UTSW |
4 |
152,061,454 (GRCm39) |
missense |
possibly damaging |
0.63 |
R5127:Dnajc11
|
UTSW |
4 |
152,054,271 (GRCm39) |
unclassified |
probably benign |
|
R5174:Dnajc11
|
UTSW |
4 |
152,064,441 (GRCm39) |
missense |
probably damaging |
1.00 |
R5180:Dnajc11
|
UTSW |
4 |
152,054,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R5319:Dnajc11
|
UTSW |
4 |
152,052,983 (GRCm39) |
missense |
probably damaging |
1.00 |
R5624:Dnajc11
|
UTSW |
4 |
152,063,967 (GRCm39) |
missense |
probably benign |
|
R6056:Dnajc11
|
UTSW |
4 |
152,062,583 (GRCm39) |
unclassified |
probably benign |
|
R6434:Dnajc11
|
UTSW |
4 |
152,063,751 (GRCm39) |
missense |
probably damaging |
1.00 |
R7635:Dnajc11
|
UTSW |
4 |
152,053,068 (GRCm39) |
missense |
probably damaging |
1.00 |
R7652:Dnajc11
|
UTSW |
4 |
152,058,682 (GRCm39) |
missense |
probably damaging |
0.99 |
R7937:Dnajc11
|
UTSW |
4 |
152,034,909 (GRCm39) |
missense |
probably damaging |
1.00 |
R7940:Dnajc11
|
UTSW |
4 |
152,053,045 (GRCm39) |
missense |
probably benign |
0.00 |
R8093:Dnajc11
|
UTSW |
4 |
152,054,357 (GRCm39) |
missense |
probably damaging |
1.00 |
R8361:Dnajc11
|
UTSW |
4 |
152,055,368 (GRCm39) |
missense |
probably damaging |
0.99 |
R9608:Dnajc11
|
UTSW |
4 |
152,034,978 (GRCm39) |
missense |
possibly damaging |
0.94 |
Z1176:Dnajc11
|
UTSW |
4 |
152,018,240 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCATGGTCCAGTGATCTCTG -3'
(R):5'- CATGATCCTTGGGAGAGACATGG -3'
Sequencing Primer
(F):5'- AGTGATCTCTGAGCTCCAGG -3'
(R):5'- AGAGACATGGCCGTGCTG -3'
|
Posted On |
2021-03-08 |