Incidental Mutation 'IGL02177:Jhy'
ID |
283147 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Jhy
|
Ensembl Gene |
ENSMUSG00000032023 |
Gene Name |
junctional cadherin complex regulator |
Synonyms |
4931429I11Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
IGL02177
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
40806145-40875414 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 40809553 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 646
(D646G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034521
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034521]
|
AlphaFold |
E9Q793 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034521
AA Change: D646G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000034521 Gene: ENSMUSG00000032023 AA Change: D646G
Domain | Start | End | E-Value | Type |
low complexity region
|
42 |
51 |
N/A |
INTRINSIC |
low complexity region
|
71 |
85 |
N/A |
INTRINSIC |
low complexity region
|
216 |
229 |
N/A |
INTRINSIC |
low complexity region
|
383 |
398 |
N/A |
INTRINSIC |
low complexity region
|
624 |
638 |
N/A |
INTRINSIC |
Pfam:DUF4591
|
648 |
767 |
7.2e-38 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162122
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hydrocephalus, domed cranium, ataxia, weight loss, enlarged lateral ventricle, neuodegeneration, abnormal brain ependymal motile cilium and premature death. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Add3 |
T |
G |
19: 53,205,323 (GRCm39) |
Y24* |
probably null |
Het |
Catsperb |
A |
G |
12: 101,507,721 (GRCm39) |
Y496C |
probably damaging |
Het |
Ccdc183 |
C |
T |
2: 25,502,095 (GRCm39) |
E260K |
probably benign |
Het |
Ccdc81 |
A |
C |
7: 89,524,988 (GRCm39) |
M531R |
possibly damaging |
Het |
Cyp3a16 |
T |
A |
5: 145,386,964 (GRCm39) |
N342I |
probably benign |
Het |
Defb43 |
T |
C |
14: 63,249,266 (GRCm39) |
V3A |
probably benign |
Het |
Dpyd |
T |
A |
3: 118,858,559 (GRCm39) |
I591N |
possibly damaging |
Het |
Dpysl5 |
T |
G |
5: 30,902,622 (GRCm39) |
V18G |
probably damaging |
Het |
Erc2 |
A |
T |
14: 27,620,580 (GRCm39) |
M69L |
probably benign |
Het |
Fam184b |
G |
T |
5: 45,690,157 (GRCm39) |
Y817* |
probably null |
Het |
Fyb1 |
G |
T |
15: 6,688,047 (GRCm39) |
|
probably null |
Het |
Gpr33 |
G |
T |
12: 52,070,863 (GRCm39) |
Q59K |
probably benign |
Het |
Heatr3 |
T |
G |
8: 88,883,351 (GRCm39) |
F278V |
probably benign |
Het |
Hectd1 |
A |
T |
12: 51,819,103 (GRCm39) |
D1292E |
probably damaging |
Het |
Herc1 |
A |
T |
9: 66,341,793 (GRCm39) |
M1861L |
probably benign |
Het |
Hspg2 |
T |
A |
4: 137,242,627 (GRCm39) |
L614Q |
probably damaging |
Het |
Itpr3 |
A |
G |
17: 27,318,588 (GRCm39) |
R915G |
possibly damaging |
Het |
Lrig1 |
T |
A |
6: 94,640,977 (GRCm39) |
N76I |
possibly damaging |
Het |
Macc1 |
A |
G |
12: 119,429,292 (GRCm39) |
D814G |
probably damaging |
Het |
Mapk8ip1 |
T |
C |
2: 92,217,092 (GRCm39) |
D401G |
probably damaging |
Het |
Nedd4 |
T |
A |
9: 72,654,439 (GRCm39) |
S865T |
probably damaging |
Het |
Or9s27 |
G |
A |
1: 92,516,479 (GRCm39) |
M142I |
possibly damaging |
Het |
Pi4ka |
A |
T |
16: 17,136,146 (GRCm39) |
D937E |
probably benign |
Het |
Prkcd |
T |
A |
14: 30,327,844 (GRCm39) |
I81F |
probably damaging |
Het |
Ranbp9 |
A |
T |
13: 43,573,193 (GRCm39) |
C280S |
probably damaging |
Het |
Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
Scn1b |
T |
C |
7: 30,816,655 (GRCm39) |
*219W |
probably null |
Het |
Slain2 |
T |
C |
5: 73,072,008 (GRCm39) |
V14A |
probably benign |
Het |
Soat1 |
A |
T |
1: 156,268,073 (GRCm39) |
|
probably benign |
Het |
Tbc1d4 |
T |
A |
14: 101,692,375 (GRCm39) |
M1030L |
possibly damaging |
Het |
Tenm4 |
T |
C |
7: 96,544,869 (GRCm39) |
V2295A |
probably benign |
Het |
Tmem135 |
A |
G |
7: 88,987,661 (GRCm39) |
Y46H |
probably damaging |
Het |
Tnfsf18 |
A |
T |
1: 161,331,354 (GRCm39) |
D168V |
probably damaging |
Het |
Trdn |
T |
C |
10: 33,015,169 (GRCm39) |
V41A |
probably damaging |
Het |
Trpc5 |
G |
T |
X: 143,264,234 (GRCm39) |
L208I |
probably damaging |
Het |
Vmn1r50 |
T |
C |
6: 90,085,139 (GRCm39) |
Y295H |
probably benign |
Het |
Vmn2r18 |
T |
G |
5: 151,510,274 (GRCm39) |
H33P |
possibly damaging |
Het |
Vmn2r84 |
T |
C |
10: 130,227,881 (GRCm39) |
I118M |
probably benign |
Het |
|
Other mutations in Jhy |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00783:Jhy
|
APN |
9 |
40,834,048 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00784:Jhy
|
APN |
9 |
40,834,048 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01370:Jhy
|
APN |
9 |
40,828,438 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01433:Jhy
|
APN |
9 |
40,828,512 (GRCm39) |
missense |
possibly damaging |
0.58 |
IGL01618:Jhy
|
APN |
9 |
40,872,260 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL01981:Jhy
|
APN |
9 |
40,806,842 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02047:Jhy
|
APN |
9 |
40,828,476 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02076:Jhy
|
APN |
9 |
40,828,674 (GRCm39) |
nonsense |
probably null |
|
IGL02093:Jhy
|
APN |
9 |
40,856,163 (GRCm39) |
splice site |
probably null |
|
IGL02406:Jhy
|
APN |
9 |
40,822,285 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02548:Jhy
|
APN |
9 |
40,828,471 (GRCm39) |
nonsense |
probably null |
|
IGL02550:Jhy
|
APN |
9 |
40,828,466 (GRCm39) |
missense |
probably benign |
0.26 |
IGL02651:Jhy
|
APN |
9 |
40,828,631 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03080:Jhy
|
APN |
9 |
40,855,653 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03168:Jhy
|
APN |
9 |
40,828,848 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL03384:Jhy
|
APN |
9 |
40,872,228 (GRCm39) |
missense |
probably benign |
0.01 |
R0980:Jhy
|
UTSW |
9 |
40,856,133 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1703:Jhy
|
UTSW |
9 |
40,856,133 (GRCm39) |
missense |
probably damaging |
1.00 |
R1711:Jhy
|
UTSW |
9 |
40,822,453 (GRCm39) |
nonsense |
probably null |
|
R1767:Jhy
|
UTSW |
9 |
40,872,444 (GRCm39) |
missense |
probably benign |
0.07 |
R2371:Jhy
|
UTSW |
9 |
40,828,778 (GRCm39) |
missense |
probably benign |
0.32 |
R2432:Jhy
|
UTSW |
9 |
40,872,182 (GRCm39) |
missense |
probably benign |
0.21 |
R3840:Jhy
|
UTSW |
9 |
40,856,142 (GRCm39) |
missense |
probably benign |
0.09 |
R3841:Jhy
|
UTSW |
9 |
40,856,142 (GRCm39) |
missense |
probably benign |
0.09 |
R4368:Jhy
|
UTSW |
9 |
40,828,440 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4569:Jhy
|
UTSW |
9 |
40,822,389 (GRCm39) |
missense |
probably benign |
|
R4570:Jhy
|
UTSW |
9 |
40,822,389 (GRCm39) |
missense |
probably benign |
|
R4669:Jhy
|
UTSW |
9 |
40,872,449 (GRCm39) |
missense |
probably benign |
0.03 |
R4762:Jhy
|
UTSW |
9 |
40,822,494 (GRCm39) |
missense |
probably benign |
|
R4902:Jhy
|
UTSW |
9 |
40,808,821 (GRCm39) |
intron |
probably benign |
|
R4932:Jhy
|
UTSW |
9 |
40,872,299 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5704:Jhy
|
UTSW |
9 |
40,808,734 (GRCm39) |
missense |
probably damaging |
0.99 |
R5890:Jhy
|
UTSW |
9 |
40,833,958 (GRCm39) |
nonsense |
probably null |
|
R6701:Jhy
|
UTSW |
9 |
40,828,887 (GRCm39) |
missense |
probably damaging |
0.99 |
R7110:Jhy
|
UTSW |
9 |
40,828,556 (GRCm39) |
missense |
probably damaging |
1.00 |
R7266:Jhy
|
UTSW |
9 |
40,872,453 (GRCm39) |
missense |
probably benign |
0.00 |
R8134:Jhy
|
UTSW |
9 |
40,872,188 (GRCm39) |
missense |
probably null |
|
R8784:Jhy
|
UTSW |
9 |
40,872,182 (GRCm39) |
missense |
probably benign |
0.00 |
R8911:Jhy
|
UTSW |
9 |
40,822,453 (GRCm39) |
nonsense |
probably null |
|
R9027:Jhy
|
UTSW |
9 |
40,828,823 (GRCm39) |
missense |
probably benign |
0.30 |
R9737:Jhy
|
UTSW |
9 |
40,808,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |