Incidental Mutation 'IGL00783:Jhy'
| ID |
277940 |
| 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: 0.071)
|
| Stock # |
IGL00783
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
40806145-40875414 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 40834048 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 291
(T291A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034521
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034521]
|
| AlphaFold |
E9Q793 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034521
AA Change: T291A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000034521
Gene: ENSMUSG00000032023
AA Change: T291A
| 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 |
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031410I06Rik |
T |
C |
5: 26,309,153 (GRCm39) |
R50G |
probably damaging |
Het |
| Arhgef33 |
A |
T |
17: 80,675,659 (GRCm39) |
I403L |
probably benign |
Het |
| Cd4 |
A |
G |
6: 124,849,952 (GRCm39) |
V121A |
possibly damaging |
Het |
| Dock10 |
A |
G |
1: 80,550,166 (GRCm39) |
|
probably benign |
Het |
| Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
| Hid1 |
A |
T |
11: 115,239,336 (GRCm39) |
Y776N |
probably damaging |
Het |
| Hnrnpl |
T |
C |
7: 28,520,067 (GRCm39) |
F482L |
probably benign |
Het |
| Ift122 |
T |
A |
6: 115,882,863 (GRCm39) |
H659Q |
probably benign |
Het |
| Igsf3 |
A |
G |
3: 101,338,555 (GRCm39) |
R290G |
probably damaging |
Het |
| Kmt2e |
A |
G |
5: 23,697,356 (GRCm39) |
I605V |
probably damaging |
Het |
| Nmt2 |
T |
A |
2: 3,315,846 (GRCm39) |
F279I |
probably damaging |
Het |
| Nup93 |
G |
A |
8: 95,035,651 (GRCm39) |
|
probably null |
Het |
| Oas2 |
A |
G |
5: 120,876,428 (GRCm39) |
F15S |
probably damaging |
Het |
| Pecam1 |
T |
C |
11: 106,590,624 (GRCm39) |
D22G |
probably damaging |
Het |
| Pold2 |
T |
C |
11: 5,822,412 (GRCm39) |
E419G |
probably benign |
Het |
| Rassf3 |
T |
C |
10: 121,251,985 (GRCm39) |
H142R |
probably benign |
Het |
| Rp2 |
T |
A |
X: 20,243,408 (GRCm39) |
C128S |
probably damaging |
Het |
| Scn7a |
T |
G |
2: 66,522,908 (GRCm39) |
E932A |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,853,965 (GRCm39) |
H504R |
probably benign |
Het |
| Syce1l |
A |
G |
8: 114,379,494 (GRCm39) |
D120G |
probably benign |
Het |
| Tns4 |
A |
G |
11: 98,961,221 (GRCm39) |
|
probably benign |
Het |
| Unc80 |
G |
A |
1: 66,647,596 (GRCm39) |
G1512E |
probably benign |
Het |
|
| Other mutations in Jhy |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
IGL02177:Jhy
|
APN |
9 |
40,809,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
Incidental Mutation