Incidental Mutation 'IGL02253:Dnajc11'
| ID |
286500 |
| 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 # |
IGL02253
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
152018177-152066416 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 152034976 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 28
(Y28*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062904]
[ENSMUST00000139069]
[ENSMUST00000147625]
|
| AlphaFold |
Q5U458 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000062904
AA Change: Y66*
|
| SMART Domains |
Protein: ENSMUSP00000051643
Gene: ENSMUSG00000039768
AA Change: Y66*
| 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 |
noncoding transcript
Transcript: ENSMUST00000128582
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133959
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000139069
AA Change: Y66*
|
| SMART Domains |
Protein: ENSMUSP00000119604
Gene: ENSMUSG00000039768
AA Change: Y66*
| 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 |
probably null
Transcript: ENSMUST00000147625
AA Change: Y28*
|
| SMART Domains |
Protein: ENSMUSP00000122140
Gene: ENSMUSG00000039768
AA Change: Y28*
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
1 |
36 |
2.51e-1 |
SMART |
|
low complexity region
|
64 |
84 |
N/A |
INTRINSIC |
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,807,182 (GRCm39) |
E76G |
probably benign |
Het |
| Adamtsl2 |
A |
T |
2: 26,988,709 (GRCm39) |
T587S |
possibly damaging |
Het |
| Adgre4 |
T |
A |
17: 56,067,573 (GRCm39) |
M9K |
probably benign |
Het |
| Aff2 |
T |
A |
X: 68,874,397 (GRCm39) |
V447E |
probably benign |
Het |
| Arhgef10l |
G |
T |
4: 140,271,595 (GRCm39) |
S425* |
probably null |
Het |
| Cabcoco1 |
T |
C |
10: 68,272,107 (GRCm39) |
|
probably null |
Het |
| Calcr |
T |
A |
6: 3,707,523 (GRCm39) |
H259L |
probably benign |
Het |
| Cdc42bpa |
T |
A |
1: 179,859,161 (GRCm39) |
|
probably benign |
Het |
| Cntnap5b |
C |
T |
1: 100,091,936 (GRCm39) |
H540Y |
possibly damaging |
Het |
| Cyp2a22 |
A |
T |
7: 26,637,662 (GRCm39) |
|
probably benign |
Het |
| Ddx3x |
T |
C |
X: 13,151,207 (GRCm39) |
|
probably benign |
Het |
| Dock11 |
T |
C |
X: 35,304,781 (GRCm39) |
F1472S |
probably damaging |
Het |
| Dusp18 |
T |
C |
11: 3,847,576 (GRCm39) |
*189Q |
probably null |
Het |
| Dzip3 |
A |
T |
16: 48,765,287 (GRCm39) |
Y476N |
probably benign |
Het |
| Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
| Evc2 |
T |
A |
5: 37,535,771 (GRCm39) |
|
probably benign |
Het |
| Fam151b |
A |
T |
13: 92,614,435 (GRCm39) |
Y18N |
probably damaging |
Het |
| Gk5 |
T |
C |
9: 96,019,824 (GRCm39) |
F120S |
probably damaging |
Het |
| Itprid2 |
A |
G |
2: 79,490,788 (GRCm39) |
T969A |
probably damaging |
Het |
| Kcna3 |
T |
C |
3: 106,944,727 (GRCm39) |
L330P |
probably damaging |
Het |
| Kctd20 |
A |
G |
17: 29,180,460 (GRCm39) |
N7S |
probably benign |
Het |
| Kmt2b |
G |
T |
7: 30,281,152 (GRCm39) |
R1276S |
probably damaging |
Het |
| Kmt2d |
C |
T |
15: 98,756,056 (GRCm39) |
|
probably benign |
Het |
| L2hgdh |
G |
A |
12: 69,752,534 (GRCm39) |
|
probably benign |
Het |
| Lifr |
T |
G |
15: 7,220,085 (GRCm39) |
V905G |
probably damaging |
Het |
| Mcm3ap |
T |
A |
10: 76,305,899 (GRCm39) |
V4E |
probably benign |
Het |
| Nrip3 |
A |
C |
7: 109,360,951 (GRCm39) |
|
probably null |
Het |
| Nsun2 |
T |
G |
13: 69,767,658 (GRCm39) |
V204G |
possibly damaging |
Het |
| Nup54 |
A |
G |
5: 92,565,310 (GRCm39) |
|
probably null |
Het |
| Or5p69 |
T |
A |
7: 107,967,261 (GRCm39) |
V188E |
possibly damaging |
Het |
| Or8c16 |
T |
A |
9: 38,131,031 (GRCm39) |
M304K |
probably benign |
Het |
| Pdcl3 |
A |
G |
1: 39,034,011 (GRCm39) |
D51G |
probably benign |
Het |
| Pdlim1 |
T |
C |
19: 40,218,974 (GRCm39) |
E219G |
probably damaging |
Het |
| Pld4 |
A |
C |
12: 112,733,141 (GRCm39) |
K239T |
probably damaging |
Het |
| Rgsl1 |
T |
C |
1: 153,669,513 (GRCm39) |
Y291C |
probably damaging |
Het |
| Rnf213 |
C |
A |
11: 119,331,476 (GRCm39) |
H2228Q |
probably benign |
Het |
| Rnf222 |
T |
A |
11: 68,783,862 (GRCm39) |
I143N |
probably damaging |
Het |
| Sirt7 |
A |
G |
11: 120,511,693 (GRCm39) |
I13T |
probably benign |
Het |
| Slfn10-ps |
A |
G |
11: 82,919,890 (GRCm39) |
|
noncoding transcript |
Het |
| Slx4ip |
T |
C |
2: 136,842,195 (GRCm39) |
|
probably null |
Het |
| Spata18 |
G |
T |
5: 73,825,939 (GRCm39) |
S164I |
possibly damaging |
Het |
| Spmip2 |
C |
A |
3: 79,356,741 (GRCm39) |
|
probably benign |
Het |
| Spmip2 |
C |
A |
3: 79,356,742 (GRCm39) |
|
probably benign |
Het |
| Stk26 |
T |
C |
X: 49,975,565 (GRCm39) |
L212P |
probably damaging |
Het |
| Tmsb15a |
T |
C |
X: 134,620,451 (GRCm39) |
I56V |
probably benign |
Het |
| Tnrc6b |
T |
A |
15: 80,760,742 (GRCm39) |
S150T |
probably damaging |
Het |
| Tubb3 |
T |
C |
8: 124,147,559 (GRCm39) |
M164T |
probably benign |
Het |
| Zfp516 |
A |
G |
18: 83,012,622 (GRCm39) |
D1125G |
probably benign |
Het |
| Zyg11a |
A |
C |
4: 108,040,892 (GRCm39) |
V685G |
probably null |
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 |
|
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 |
2015-04-16 |
Incidental Mutation