Incidental Mutation 'R5127:Dnajc11'
| ID |
394813 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnajc11
|
| Ensembl Gene |
ENSMUSG00000039768 |
| Gene Name |
DnaJ heat shock protein family (Hsp40) member C11 |
| Synonyms |
E030019A03Rik |
| MMRRC Submission |
042715-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
R5127 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
152018177-152066416 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 152054271 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062904]
[ENSMUST00000139069]
[ENSMUST00000147625]
|
| AlphaFold |
Q5U458 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062904
|
| SMART Domains |
Protein: ENSMUSP00000051643
Gene: ENSMUSG00000039768
| 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: ENSMUST00000123551
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128582
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138738
|
| 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: ENSMUST00000142198
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148048
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147625
|
| SMART Domains |
Protein: ENSMUSP00000122140
Gene: ENSMUSG00000039768
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
1 |
36 |
2.51e-1 |
SMART |
|
low complexity region
|
64 |
84 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
93% (42/45) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
C |
10: 78,902,826 (GRCm39) |
K497E |
probably damaging |
Het |
| 4933413J09Rik |
A |
G |
14: 26,097,462 (GRCm39) |
|
noncoding transcript |
Het |
| Aox1 |
A |
T |
1: 58,069,185 (GRCm39) |
I4F |
probably benign |
Het |
| Arhgef5 |
A |
T |
6: 43,250,148 (GRCm39) |
N300Y |
probably damaging |
Het |
| B530045E10Rik |
A |
G |
10: 99,257,983 (GRCm39) |
|
noncoding transcript |
Het |
| Ccnb1 |
C |
G |
13: 100,918,283 (GRCm39) |
Q121H |
possibly damaging |
Het |
| Cdh20 |
A |
G |
1: 104,875,073 (GRCm39) |
E285G |
probably damaging |
Het |
| Cfap54 |
A |
T |
10: 92,722,249 (GRCm39) |
|
probably null |
Het |
| Col6a3 |
A |
G |
1: 90,696,067 (GRCm39) |
C2667R |
unknown |
Het |
| Cts8 |
C |
T |
13: 61,401,149 (GRCm39) |
V126M |
probably damaging |
Het |
| Dag1 |
A |
T |
9: 108,084,771 (GRCm39) |
I790N |
possibly damaging |
Het |
| Ddit4 |
A |
G |
10: 59,786,491 (GRCm39) |
I186T |
probably damaging |
Het |
| Farsa |
A |
G |
8: 85,595,593 (GRCm39) |
D495G |
probably benign |
Het |
| Gm1527 |
T |
A |
3: 28,957,567 (GRCm39) |
I157N |
probably damaging |
Het |
| Gm5773 |
T |
A |
3: 93,680,735 (GRCm39) |
W136R |
probably benign |
Het |
| Hpse |
C |
A |
5: 100,867,403 (GRCm39) |
A20S |
unknown |
Het |
| Igfn1 |
A |
G |
1: 135,887,634 (GRCm39) |
Y2477H |
probably damaging |
Het |
| Kcnh5 |
A |
G |
12: 74,944,858 (GRCm39) |
V797A |
probably benign |
Het |
| Kptn |
T |
A |
7: 15,859,710 (GRCm39) |
C311* |
probably null |
Het |
| Lpcat2 |
A |
T |
8: 93,635,819 (GRCm39) |
N407I |
possibly damaging |
Het |
| Lrp1 |
T |
A |
10: 127,375,503 (GRCm39) |
|
probably benign |
Het |
| Ovol2 |
C |
T |
2: 144,159,780 (GRCm39) |
C120Y |
probably damaging |
Het |
| Pcdhac2 |
G |
T |
18: 37,277,352 (GRCm39) |
E111* |
probably null |
Het |
| Pknox1 |
C |
T |
17: 31,809,713 (GRCm39) |
P106S |
probably benign |
Het |
| Plet1 |
C |
T |
9: 50,415,595 (GRCm39) |
T155I |
probably benign |
Het |
| Ppfia2 |
A |
G |
10: 106,671,621 (GRCm39) |
K444R |
probably damaging |
Het |
| Prrc2c |
A |
T |
1: 162,525,415 (GRCm39) |
I397N |
unknown |
Het |
| Ranbp1 |
A |
G |
16: 18,065,151 (GRCm39) |
|
probably null |
Het |
| Raver2 |
T |
C |
4: 100,960,182 (GRCm39) |
C221R |
probably damaging |
Het |
| Reps1 |
A |
G |
10: 17,969,628 (GRCm39) |
T244A |
probably benign |
Het |
| Slc22a16 |
G |
A |
10: 40,449,953 (GRCm39) |
V130I |
probably benign |
Het |
| Stmnd1 |
G |
A |
13: 46,453,071 (GRCm39) |
S249N |
probably benign |
Het |
| Styx |
A |
G |
14: 45,610,961 (GRCm39) |
|
probably null |
Het |
| Sult1b1 |
T |
G |
5: 87,669,407 (GRCm39) |
N147T |
probably damaging |
Het |
| Tbc1d2 |
G |
A |
4: 46,633,639 (GRCm39) |
|
probably benign |
Het |
| Tm4sf1 |
T |
G |
3: 57,200,289 (GRCm39) |
I109L |
possibly damaging |
Het |
| Ufl1 |
T |
C |
4: 25,256,010 (GRCm39) |
E423G |
probably benign |
Het |
| Unc13c |
T |
C |
9: 73,840,654 (GRCm39) |
I66V |
probably benign |
Het |
| Wfdc10 |
C |
T |
2: 164,499,060 (GRCm39) |
Q57* |
probably null |
Het |
| Zeb1os1 |
T |
C |
18: 5,567,390 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp369 |
A |
T |
13: 65,426,847 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCTCAGAGGCAACACTTC -3'
(R):5'- AACTTTAAATAGTTCAGTGGACCCC -3'
Sequencing Primer
(F):5'- GATTTCTGAGTTCAAGGCCAGCC -3'
(R):5'- AGTGTGACTGCTCACTGC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation