Incidental Mutation 'IGL01769:Dnajc11'
| ID |
153809 |
| 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: 0.960)
|
| Stock # |
IGL01769
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
152018177-152066416 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 152063759 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 452
(I452L)
|
| 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 damaging
Transcript: ENSMUST00000062904
AA Change: I452L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000051643
Gene: ENSMUSG00000039768
AA Change: I452L
| 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
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139555
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057M21Rik |
T |
A |
7: 130,959,215 (GRCm39) |
M162L |
probably benign |
Het |
| Aldh1a1 |
A |
T |
19: 20,620,283 (GRCm39) |
T487S |
probably benign |
Het |
| Bahcc1 |
T |
C |
11: 120,171,030 (GRCm39) |
|
probably benign |
Het |
| Cldn10 |
G |
A |
14: 119,111,129 (GRCm39) |
|
probably benign |
Het |
| Cntn3 |
G |
A |
6: 102,185,145 (GRCm39) |
T657I |
probably damaging |
Het |
| Crb1 |
A |
T |
1: 139,264,806 (GRCm39) |
I204K |
probably damaging |
Het |
| Crim1 |
C |
A |
17: 78,620,664 (GRCm39) |
T368K |
probably benign |
Het |
| Csad |
C |
A |
15: 102,088,516 (GRCm39) |
V237L |
probably benign |
Het |
| Cyp39a1 |
T |
G |
17: 44,060,806 (GRCm39) |
H451Q |
possibly damaging |
Het |
| Dclk2 |
T |
C |
3: 86,723,667 (GRCm39) |
E376G |
possibly damaging |
Het |
| Dnah10 |
A |
T |
5: 124,842,008 (GRCm39) |
Y1331F |
possibly damaging |
Het |
| Dpf2 |
T |
C |
19: 5,962,810 (GRCm39) |
|
probably benign |
Het |
| Elovl2 |
A |
C |
13: 41,340,420 (GRCm39) |
V225G |
probably damaging |
Het |
| Fancd2 |
T |
A |
6: 113,522,072 (GRCm39) |
H222Q |
possibly damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Flt4 |
C |
T |
11: 49,525,998 (GRCm39) |
|
probably benign |
Het |
| Foxp2 |
T |
C |
6: 15,409,834 (GRCm39) |
V478A |
possibly damaging |
Het |
| H2-Q1 |
G |
A |
17: 35,542,505 (GRCm39) |
V317M |
probably benign |
Het |
| Hrob |
T |
C |
11: 102,146,422 (GRCm39) |
C233R |
probably benign |
Het |
| Igkv3-5 |
G |
A |
6: 70,640,336 (GRCm39) |
|
probably benign |
Het |
| Isg20 |
G |
A |
7: 78,564,129 (GRCm39) |
C12Y |
probably damaging |
Het |
| Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
| Nat8f5 |
G |
A |
6: 85,794,859 (GRCm39) |
R34C |
probably benign |
Het |
| Or8d2 |
T |
C |
9: 38,759,629 (GRCm39) |
V73A |
probably benign |
Het |
| Pramel7 |
A |
G |
2: 87,319,932 (GRCm39) |
S454P |
probably benign |
Het |
| Rarb |
T |
A |
14: 16,443,760 (GRCm38) |
E176V |
probably damaging |
Het |
| Sema4a |
T |
A |
3: 88,357,063 (GRCm39) |
I303F |
possibly damaging |
Het |
| Slc25a24 |
G |
A |
3: 109,056,816 (GRCm39) |
E110K |
probably damaging |
Het |
| Slc7a13 |
A |
T |
4: 19,839,527 (GRCm39) |
I377L |
probably benign |
Het |
| Smim19 |
T |
C |
8: 22,953,393 (GRCm39) |
|
probably null |
Het |
| Tiam2 |
A |
G |
17: 3,477,565 (GRCm39) |
Y596C |
probably damaging |
Het |
| Tlr1 |
A |
T |
5: 65,083,290 (GRCm39) |
L429* |
probably null |
Het |
| Ubxn8 |
G |
A |
8: 34,119,406 (GRCm39) |
|
probably benign |
Het |
| Vmn2r108 |
C |
A |
17: 20,691,280 (GRCm39) |
M414I |
probably benign |
Het |
| Vmn2r99 |
A |
G |
17: 19,600,377 (GRCm39) |
N467S |
probably damaging |
Het |
| Zfp456 |
T |
A |
13: 67,515,272 (GRCm39) |
T145S |
probably benign |
Het |
|
| Other mutations in Dnajc11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2014-02-04 |
Incidental Mutation