Incidental Mutation 'IGL01301:Dnajc1'
ID |
73237 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Dnajc1
|
Ensembl Gene |
ENSMUSG00000026740 |
Gene Name |
DnaJ heat shock protein family (Hsp40) member C1 |
Synonyms |
MTJ1, Dnajl1, ERdj1, D230036H06Rik, 4733401K02Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.121)
|
Stock # |
IGL01301
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
18210445-18402025 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 18313645 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 159
(T159A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126321
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028072]
[ENSMUST00000091418]
[ENSMUST00000166495]
|
AlphaFold |
Q61712 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028072
|
SMART Domains |
Protein: ENSMUSP00000028072 Gene: ENSMUSG00000026740
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
43 |
N/A |
INTRINSIC |
DnaJ
|
60 |
104 |
5.4e-10 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000091418
AA Change: T159A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000088980 Gene: ENSMUSG00000026740 AA Change: T159A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
43 |
N/A |
INTRINSIC |
DnaJ
|
60 |
117 |
5.73e-23 |
SMART |
transmembrane domain
|
149 |
171 |
N/A |
INTRINSIC |
low complexity region
|
177 |
194 |
N/A |
INTRINSIC |
low complexity region
|
269 |
281 |
N/A |
INTRINSIC |
SANT
|
324 |
375 |
2.06e-6 |
SMART |
low complexity region
|
416 |
434 |
N/A |
INTRINSIC |
low complexity region
|
438 |
451 |
N/A |
INTRINSIC |
SANT
|
491 |
543 |
3.56e-10 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153055
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163130
|
SMART Domains |
Protein: ENSMUSP00000129176 Gene: ENSMUSG00000026740
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
DnaJ
|
34 |
78 |
5.4e-10 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164606
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164835
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000166495
AA Change: T159A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000126321 Gene: ENSMUSG00000026740 AA Change: T159A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
43 |
N/A |
INTRINSIC |
DnaJ
|
60 |
117 |
5.73e-23 |
SMART |
transmembrane domain
|
149 |
171 |
N/A |
INTRINSIC |
low complexity region
|
177 |
194 |
N/A |
INTRINSIC |
low complexity region
|
269 |
281 |
N/A |
INTRINSIC |
SANT
|
324 |
375 |
2.06e-6 |
SMART |
low complexity region
|
416 |
434 |
N/A |
INTRINSIC |
low complexity region
|
438 |
451 |
N/A |
INTRINSIC |
SANT
|
491 |
543 |
3.56e-10 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168723
|
SMART Domains |
Protein: ENSMUSP00000126716 Gene: ENSMUSG00000026740
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
low complexity region
|
74 |
86 |
N/A |
INTRINSIC |
SANT
|
129 |
180 |
2.06e-6 |
SMART |
low complexity region
|
221 |
239 |
N/A |
INTRINSIC |
low complexity region
|
243 |
256 |
N/A |
INTRINSIC |
SANT
|
296 |
348 |
3.56e-10 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The membrane protein encoded by this gene is a DNAJ-like heat shock protein that binds the molecular chaperone BiP. In addition, the encoded protein contains two SANT domains that have been shown to bind serpin alpha1-antichymotrypsin and inter-alpha trypsin inhibitor heavy chain 4. [provided by RefSeq, Jul 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1600012H06Rik |
C |
T |
17: 15,164,181 (GRCm39) |
|
probably null |
Het |
Acacb |
A |
T |
5: 114,384,559 (GRCm39) |
I2238L |
probably benign |
Het |
Aldh1l2 |
T |
C |
10: 83,358,710 (GRCm39) |
Y95C |
probably damaging |
Het |
Asxl2 |
A |
G |
12: 3,551,425 (GRCm39) |
T1056A |
probably damaging |
Het |
B4galnt1 |
A |
G |
10: 127,005,648 (GRCm39) |
T250A |
possibly damaging |
Het |
Cela3b |
A |
T |
4: 137,151,154 (GRCm39) |
|
probably null |
Het |
Chst3 |
T |
C |
10: 60,021,654 (GRCm39) |
T398A |
probably damaging |
Het |
Cngb3 |
A |
G |
4: 19,425,625 (GRCm39) |
T478A |
probably damaging |
Het |
Cyp4a10 |
T |
C |
4: 115,375,652 (GRCm39) |
L45P |
probably damaging |
Het |
Defb21 |
A |
G |
2: 152,416,671 (GRCm39) |
E49G |
possibly damaging |
Het |
Dnmbp |
A |
G |
19: 43,890,793 (GRCm39) |
S325P |
probably benign |
Het |
Fam91a1 |
T |
C |
15: 58,314,720 (GRCm39) |
F534L |
probably damaging |
Het |
Fermt2 |
T |
C |
14: 45,702,320 (GRCm39) |
E488G |
probably damaging |
Het |
Filip1 |
T |
C |
9: 79,726,462 (GRCm39) |
D719G |
possibly damaging |
Het |
Gad1-ps |
A |
G |
10: 99,281,013 (GRCm39) |
|
noncoding transcript |
Het |
Glra3 |
C |
A |
8: 56,393,997 (GRCm39) |
A36E |
probably benign |
Het |
Gm9884 |
T |
A |
1: 25,869,729 (GRCm39) |
|
probably benign |
Het |
Hectd2 |
T |
C |
19: 36,546,770 (GRCm39) |
|
probably benign |
Het |
Hnrnpm |
C |
T |
17: 33,888,142 (GRCm39) |
|
probably null |
Het |
Lrrk2 |
T |
A |
15: 91,651,542 (GRCm39) |
Y1733N |
probably damaging |
Het |
Mindy1 |
T |
C |
3: 95,195,701 (GRCm39) |
L148P |
probably damaging |
Het |
Mkrn2 |
C |
A |
6: 115,588,750 (GRCm39) |
Y164* |
probably null |
Het |
Msra |
T |
C |
14: 64,447,884 (GRCm39) |
Y135C |
probably damaging |
Het |
Ndst3 |
C |
T |
3: 123,342,565 (GRCm39) |
A749T |
probably damaging |
Het |
Ngdn |
G |
T |
14: 55,254,571 (GRCm39) |
A41S |
probably benign |
Het |
Nlrp12 |
A |
T |
7: 3,288,722 (GRCm39) |
S597T |
probably damaging |
Het |
Or5b99 |
A |
T |
19: 12,976,781 (GRCm39) |
I144F |
probably damaging |
Het |
Pabpc6 |
A |
G |
17: 9,886,899 (GRCm39) |
S551P |
probably benign |
Het |
Plekhg5 |
C |
T |
4: 152,197,010 (GRCm39) |
A752V |
probably benign |
Het |
Prpf4b |
T |
C |
13: 35,068,274 (GRCm39) |
S368P |
probably benign |
Het |
Pus7 |
A |
G |
5: 23,951,422 (GRCm39) |
|
probably null |
Het |
Rad23b |
T |
C |
4: 55,366,774 (GRCm39) |
|
probably benign |
Het |
Rgs13 |
T |
C |
1: 144,047,152 (GRCm39) |
|
probably benign |
Het |
Sfpq |
T |
C |
4: 126,920,553 (GRCm39) |
|
probably benign |
Het |
Slc9a9 |
T |
A |
9: 94,937,512 (GRCm39) |
S455T |
probably benign |
Het |
Slco1a1 |
A |
G |
6: 141,878,256 (GRCm39) |
|
probably benign |
Het |
Tmem26 |
A |
T |
10: 68,614,436 (GRCm39) |
N284Y |
probably damaging |
Het |
Tmem87a |
T |
C |
2: 120,211,250 (GRCm39) |
I232V |
probably benign |
Het |
Trpm2 |
A |
G |
10: 77,759,818 (GRCm39) |
L1106P |
probably damaging |
Het |
Vmn1r18 |
T |
C |
6: 57,366,652 (GRCm39) |
|
probably benign |
Het |
Zfp213 |
G |
T |
17: 23,780,391 (GRCm39) |
A43D |
probably benign |
Het |
Zfp365 |
A |
G |
10: 67,745,184 (GRCm39) |
V198A |
probably damaging |
Het |
Zfp395 |
T |
A |
14: 65,632,200 (GRCm39) |
|
probably null |
Het |
Zfp618 |
G |
A |
4: 63,051,063 (GRCm39) |
V615M |
probably damaging |
Het |
|
Other mutations in Dnajc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00491:Dnajc1
|
APN |
2 |
18,313,713 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL02080:Dnajc1
|
APN |
2 |
18,321,159 (GRCm39) |
intron |
probably benign |
|
IGL03058:Dnajc1
|
APN |
2 |
18,222,132 (GRCm39) |
missense |
possibly damaging |
0.90 |
ANU18:Dnajc1
|
UTSW |
2 |
18,313,645 (GRCm39) |
missense |
probably damaging |
0.99 |
R0537:Dnajc1
|
UTSW |
2 |
18,312,767 (GRCm39) |
missense |
possibly damaging |
0.63 |
R0630:Dnajc1
|
UTSW |
2 |
18,236,612 (GRCm39) |
missense |
probably damaging |
1.00 |
R1187:Dnajc1
|
UTSW |
2 |
18,289,520 (GRCm39) |
missense |
probably benign |
0.01 |
R1511:Dnajc1
|
UTSW |
2 |
18,227,538 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1844:Dnajc1
|
UTSW |
2 |
18,298,838 (GRCm39) |
nonsense |
probably null |
|
R1848:Dnajc1
|
UTSW |
2 |
18,224,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R2174:Dnajc1
|
UTSW |
2 |
18,312,762 (GRCm39) |
missense |
probably damaging |
0.99 |
R2199:Dnajc1
|
UTSW |
2 |
18,313,710 (GRCm39) |
missense |
probably damaging |
1.00 |
R2211:Dnajc1
|
UTSW |
2 |
18,397,286 (GRCm39) |
missense |
probably damaging |
0.99 |
R2471:Dnajc1
|
UTSW |
2 |
18,224,627 (GRCm39) |
missense |
possibly damaging |
0.75 |
R4758:Dnajc1
|
UTSW |
2 |
18,313,757 (GRCm39) |
nonsense |
probably null |
|
R5790:Dnajc1
|
UTSW |
2 |
18,311,898 (GRCm39) |
intron |
probably benign |
|
R5802:Dnajc1
|
UTSW |
2 |
18,289,550 (GRCm39) |
missense |
probably benign |
0.41 |
R5950:Dnajc1
|
UTSW |
2 |
18,311,752 (GRCm39) |
intron |
probably benign |
|
R6049:Dnajc1
|
UTSW |
2 |
18,236,511 (GRCm39) |
splice site |
probably null |
|
R6770:Dnajc1
|
UTSW |
2 |
18,222,082 (GRCm39) |
unclassified |
probably benign |
|
R7242:Dnajc1
|
UTSW |
2 |
18,298,783 (GRCm39) |
missense |
probably benign |
0.06 |
R7462:Dnajc1
|
UTSW |
2 |
18,313,710 (GRCm39) |
missense |
probably damaging |
0.99 |
R7716:Dnajc1
|
UTSW |
2 |
18,224,684 (GRCm39) |
missense |
probably benign |
0.00 |
R7846:Dnajc1
|
UTSW |
2 |
18,224,704 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7963:Dnajc1
|
UTSW |
2 |
18,227,535 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8750:Dnajc1
|
UTSW |
2 |
18,313,645 (GRCm39) |
missense |
probably damaging |
0.99 |
R8967:Dnajc1
|
UTSW |
2 |
18,313,757 (GRCm39) |
nonsense |
probably null |
|
R9344:Dnajc1
|
UTSW |
2 |
18,289,586 (GRCm39) |
missense |
probably benign |
0.01 |
Z1176:Dnajc1
|
UTSW |
2 |
18,298,798 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
Posted On |
2013-10-07 |