Incidental Mutation 'IGL02969:Dnajc11'
ID |
365745 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Dnajc11
|
Ensembl Gene |
ENSMUSG00000039768 |
Gene Name |
DnaJ heat shock protein family (Hsp40) member C11 |
Synonyms |
E030019A03Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.962)
|
Stock # |
IGL02969
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
152018177-152066416 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 152062503 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 434
(K434R)
|
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 benign
Transcript: ENSMUST00000062904
AA Change: K434R
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000051643 Gene: ENSMUSG00000039768 AA Change: K434R
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 |
noncoding transcript
Transcript: ENSMUST00000124955
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128582
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139069
AA Change: K341R
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000119604 Gene: ENSMUSG00000039768 AA Change: K341R
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139555
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142198
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148048
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149337
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700011L22Rik |
A |
G |
8: 79,946,866 (GRCm39) |
|
probably benign |
Het |
Acsbg3 |
A |
T |
17: 57,190,751 (GRCm39) |
T440S |
probably damaging |
Het |
Akap12 |
T |
A |
10: 4,304,864 (GRCm39) |
V558E |
probably damaging |
Het |
Atg4c |
T |
C |
4: 99,146,624 (GRCm39) |
|
probably benign |
Het |
Atg7 |
T |
A |
6: 114,701,884 (GRCm39) |
N673K |
possibly damaging |
Het |
Brpf3 |
A |
G |
17: 29,040,279 (GRCm39) |
D900G |
probably benign |
Het |
C2cd5 |
T |
C |
6: 143,025,669 (GRCm39) |
Y176C |
probably damaging |
Het |
Cep70 |
A |
T |
9: 99,180,557 (GRCm39) |
I571F |
possibly damaging |
Het |
Cir1 |
C |
T |
2: 73,134,120 (GRCm39) |
G150R |
probably null |
Het |
Cyp46a1 |
T |
C |
12: 108,309,296 (GRCm39) |
V68A |
probably damaging |
Het |
Dlgap2 |
A |
G |
8: 14,881,579 (GRCm39) |
T883A |
possibly damaging |
Het |
Dnah2 |
C |
A |
11: 69,412,013 (GRCm39) |
K249N |
possibly damaging |
Het |
Eri3 |
A |
G |
4: 117,506,508 (GRCm39) |
Y279C |
probably damaging |
Het |
Hectd4 |
T |
A |
5: 121,503,116 (GRCm39) |
Y4362N |
possibly damaging |
Het |
Ilk |
A |
G |
7: 105,389,547 (GRCm39) |
K85E |
possibly damaging |
Het |
Insrr |
G |
T |
3: 87,721,498 (GRCm39) |
G1135* |
probably null |
Het |
Itgax |
T |
A |
7: 127,748,295 (GRCm39) |
M1108K |
probably benign |
Het |
Mpzl3 |
C |
T |
9: 44,979,514 (GRCm39) |
T155I |
probably benign |
Het |
Or4f57 |
A |
T |
2: 111,790,912 (GRCm39) |
C169S |
probably damaging |
Het |
Or6c212 |
A |
T |
10: 129,559,065 (GRCm39) |
M116K |
probably damaging |
Het |
Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
Polr2h |
A |
G |
16: 20,537,807 (GRCm39) |
Y68C |
probably damaging |
Het |
Pramel47 |
C |
T |
5: 95,489,258 (GRCm39) |
P234S |
probably benign |
Het |
Rhobtb3 |
A |
G |
13: 76,091,550 (GRCm39) |
S2P |
probably damaging |
Het |
Slc24a5 |
T |
C |
2: 124,925,147 (GRCm39) |
S263P |
probably damaging |
Het |
Spz1 |
T |
G |
13: 92,711,851 (GRCm39) |
K208N |
possibly damaging |
Het |
Tbpl2 |
C |
A |
2: 23,981,105 (GRCm39) |
C231F |
probably damaging |
Het |
Tdrd6 |
T |
C |
17: 43,938,440 (GRCm39) |
I869M |
probably damaging |
Het |
Tesk1 |
G |
A |
4: 43,447,027 (GRCm39) |
E472K |
possibly damaging |
Het |
Tesk1 |
C |
A |
4: 43,447,026 (GRCm39) |
C471* |
probably null |
Het |
Thoc2l |
C |
T |
5: 104,667,209 (GRCm39) |
T577I |
probably benign |
Het |
Tmem213 |
T |
A |
6: 38,092,601 (GRCm39) |
V111E |
probably damaging |
Het |
Tmem232 |
A |
T |
17: 65,563,558 (GRCm39) |
Y612N |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,729,707 (GRCm39) |
|
probably benign |
Het |
Vmn2r113 |
G |
A |
17: 23,177,591 (GRCm39) |
V792I |
probably benign |
Het |
Wdfy1 |
A |
G |
1: 79,691,588 (GRCm39) |
V273A |
probably benign |
Het |
Wwp1 |
A |
G |
4: 19,623,200 (GRCm39) |
S762P |
probably 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 |
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 |
R8684:Dnajc11
|
UTSW |
4 |
152,065,183 (GRCm39) |
makesense |
probably null |
|
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 |
|
Posted On |
2015-12-18 |