Incidental Mutation 'R1138:Dnajc22'
| ID |
95317 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnajc22
|
| Ensembl Gene |
ENSMUSG00000038009 |
| Gene Name |
DnaJ heat shock protein family (Hsp40) member C22 |
| Synonyms |
2810451A06Rik |
| MMRRC Submission |
039211-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R1138 (G1)
|
| Quality Score |
119 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
98991102-99002618 bp(+) (GRCm39) |
| Type of Mutation |
small deletion (2 aa in frame mutation) |
| DNA Base Change (assembly) |
AGACACT to A
at 99002308 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061295]
|
| AlphaFold |
Q8CHS2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061295
|
| SMART Domains |
Protein: ENSMUSP00000055482
Gene: ENSMUSG00000038009
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TM2
|
1 |
50 |
1e-10 |
PFAM |
|
transmembrane domain
|
76 |
98 |
N/A |
INTRINSIC |
|
transmembrane domain
|
105 |
124 |
N/A |
INTRINSIC |
|
transmembrane domain
|
139 |
161 |
N/A |
INTRINSIC |
|
transmembrane domain
|
206 |
228 |
N/A |
INTRINSIC |
|
DnaJ
|
276 |
335 |
1.09e-19 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146173
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
A |
3: 121,967,497 (GRCm39) |
N974K |
probably benign |
Het |
| Brd8dc |
C |
T |
18: 34,713,297 (GRCm39) |
V258I |
probably benign |
Het |
| Bub1b |
C |
T |
2: 118,453,570 (GRCm39) |
T467I |
probably benign |
Het |
| Bzw1 |
T |
C |
1: 58,440,545 (GRCm39) |
Y173H |
probably damaging |
Het |
| Chl1 |
A |
G |
6: 103,670,140 (GRCm39) |
D526G |
probably benign |
Het |
| Dstyk |
A |
G |
1: 132,391,224 (GRCm39) |
N920S |
probably benign |
Het |
| Glra3 |
A |
G |
8: 56,542,011 (GRCm39) |
|
probably null |
Het |
| Hpgd |
G |
A |
8: 56,760,712 (GRCm39) |
M136I |
probably benign |
Het |
| Igfbp2 |
A |
G |
1: 72,888,257 (GRCm39) |
D133G |
probably damaging |
Het |
| Lin54 |
A |
G |
5: 100,591,993 (GRCm39) |
M642T |
probably damaging |
Het |
| Map7d1 |
T |
C |
4: 126,135,912 (GRCm39) |
T99A |
possibly damaging |
Het |
| Mfsd4b5 |
C |
T |
10: 39,851,150 (GRCm39) |
C35Y |
probably damaging |
Het |
| Mycbp2 |
G |
T |
14: 103,412,262 (GRCm39) |
N2570K |
possibly damaging |
Het |
| Nr4a2 |
T |
C |
2: 57,002,391 (GRCm39) |
S21G |
probably damaging |
Het |
| Oacyl |
T |
A |
18: 65,858,521 (GRCm39) |
L209Q |
probably damaging |
Het |
| Or4c125 |
T |
C |
2: 89,170,434 (GRCm39) |
I71V |
probably benign |
Het |
| Pkd1 |
C |
A |
17: 24,805,006 (GRCm39) |
N3218K |
probably damaging |
Het |
| Scyl3 |
A |
G |
1: 163,761,234 (GRCm39) |
N46S |
possibly damaging |
Het |
| Sh2d3c |
G |
T |
2: 32,639,417 (GRCm39) |
R349L |
probably benign |
Het |
| Siae |
G |
A |
9: 37,553,988 (GRCm39) |
R366H |
probably damaging |
Het |
| Tmem108 |
T |
C |
9: 103,376,168 (GRCm39) |
N427S |
possibly damaging |
Het |
|
| Other mutations in Dnajc22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00091:Dnajc22
|
APN |
15 |
98,999,059 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL00922:Dnajc22
|
APN |
15 |
98,999,460 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02155:Dnajc22
|
APN |
15 |
98,998,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02726:Dnajc22
|
APN |
15 |
98,998,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03074:Dnajc22
|
APN |
15 |
98,999,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
F5770:Dnajc22
|
UTSW |
15 |
98,999,363 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1628:Dnajc22
|
UTSW |
15 |
98,998,817 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R2018:Dnajc22
|
UTSW |
15 |
98,999,114 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2146:Dnajc22
|
UTSW |
15 |
99,002,264 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4342:Dnajc22
|
UTSW |
15 |
99,002,345 (GRCm39) |
nonsense |
probably null |
|
|
R4950:Dnajc22
|
UTSW |
15 |
98,999,615 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7123:Dnajc22
|
UTSW |
15 |
98,999,085 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7173:Dnajc22
|
UTSW |
15 |
98,999,187 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7640:Dnajc22
|
UTSW |
15 |
98,998,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7997:Dnajc22
|
UTSW |
15 |
98,999,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8338:Dnajc22
|
UTSW |
15 |
98,999,022 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8745:Dnajc22
|
UTSW |
15 |
98,999,345 (GRCm39) |
missense |
probably benign |
0.01 |
|
V7580:Dnajc22
|
UTSW |
15 |
98,999,363 (GRCm39) |
missense |
probably damaging |
0.99 |
|
V7581:Dnajc22
|
UTSW |
15 |
98,999,363 (GRCm39) |
missense |
probably damaging |
0.99 |
|
V7582:Dnajc22
|
UTSW |
15 |
98,999,363 (GRCm39) |
missense |
probably damaging |
0.99 |
|
V7583:Dnajc22
|
UTSW |
15 |
98,999,363 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTCTGGGCCATTCTAGTTCTAAGG -3'
(R):5'- CAGCCTCCTAACTGAGTGCTGAAG -3'
Sequencing Primer
(F):5'- GCCATTCTAGTTCTAAGGAGCTTG -3'
(R):5'- CTAGGATTCCGTGGTATAGCC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation