Incidental Mutation 'IGL03168:Jhy'
ID |
411717 |
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 # |
IGL03168
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
40806145-40875414 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 40828848 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 353
(S353T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034521
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034521]
|
AlphaFold |
E9Q793 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034521
AA Change: S353T
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000034521 Gene: ENSMUSG00000032023 AA Change: S353T
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c6 |
T |
C |
13: 4,486,280 (GRCm39) |
V29A |
probably benign |
Het |
Ankk1 |
C |
A |
9: 49,327,068 (GRCm39) |
A704S |
possibly damaging |
Het |
Aph1c |
G |
A |
9: 66,740,619 (GRCm39) |
|
probably benign |
Het |
Arglu1 |
T |
A |
8: 8,733,960 (GRCm39) |
I119L |
probably benign |
Het |
Brwd1 |
A |
T |
16: 95,818,877 (GRCm39) |
S1318R |
possibly damaging |
Het |
Calhm4 |
C |
T |
10: 33,917,552 (GRCm39) |
V300I |
probably benign |
Het |
Chd3 |
A |
G |
11: 69,239,741 (GRCm39) |
|
probably benign |
Het |
Colq |
T |
C |
14: 31,246,377 (GRCm39) |
Y445C |
probably damaging |
Het |
Cyp2a4 |
A |
T |
7: 26,012,975 (GRCm39) |
|
probably benign |
Het |
Cyp2j7 |
C |
T |
4: 96,118,274 (GRCm39) |
M106I |
probably benign |
Het |
Erfe |
T |
G |
1: 91,299,164 (GRCm39) |
N302K |
probably damaging |
Het |
Fggy |
A |
T |
4: 95,815,046 (GRCm39) |
|
probably benign |
Het |
Gata3 |
A |
G |
2: 9,873,625 (GRCm39) |
Y290H |
probably damaging |
Het |
Grik4 |
T |
C |
9: 42,582,539 (GRCm39) |
T136A |
probably damaging |
Het |
Hc |
G |
T |
2: 34,914,210 (GRCm39) |
N832K |
probably benign |
Het |
Krt40 |
T |
A |
11: 99,433,854 (GRCm39) |
Q44L |
possibly damaging |
Het |
Ksr2 |
T |
C |
5: 117,886,846 (GRCm39) |
F794S |
probably damaging |
Het |
Or2l13 |
A |
T |
16: 19,305,969 (GRCm39) |
H127L |
probably benign |
Het |
Or2n1e |
A |
C |
17: 38,585,682 (GRCm39) |
S7R |
probably damaging |
Het |
Or4p7 |
A |
G |
2: 88,221,938 (GRCm39) |
M116V |
probably damaging |
Het |
Or5ac16 |
A |
G |
16: 59,022,610 (GRCm39) |
Y60H |
probably damaging |
Het |
Or5t9 |
A |
G |
2: 86,659,607 (GRCm39) |
I170M |
possibly damaging |
Het |
Or8b1c |
A |
G |
9: 38,384,315 (GRCm39) |
T91A |
probably benign |
Het |
Pcdhb17 |
A |
G |
18: 37,618,825 (GRCm39) |
E205G |
probably benign |
Het |
Pon3 |
A |
T |
6: 5,256,177 (GRCm39) |
I17K |
possibly damaging |
Het |
Prkd2 |
A |
G |
7: 16,584,188 (GRCm39) |
D347G |
possibly damaging |
Het |
Prkdc |
A |
G |
16: 15,652,030 (GRCm39) |
I3806V |
probably benign |
Het |
Qpct |
C |
A |
17: 79,359,753 (GRCm39) |
A20E |
unknown |
Het |
Rap1a |
A |
G |
3: 105,657,587 (GRCm39) |
S11P |
probably damaging |
Het |
Rnf145 |
C |
A |
11: 44,445,985 (GRCm39) |
T273K |
probably damaging |
Het |
Speg |
T |
C |
1: 75,364,831 (GRCm39) |
I298T |
probably damaging |
Het |
Syt6 |
G |
A |
3: 103,494,943 (GRCm39) |
V303M |
probably damaging |
Het |
Tpr |
A |
G |
1: 150,284,508 (GRCm39) |
I324M |
probably benign |
Het |
Uggt2 |
A |
G |
14: 119,315,080 (GRCm39) |
F330L |
probably damaging |
Het |
Unc45a |
A |
T |
7: 79,982,881 (GRCm39) |
L348Q |
probably damaging |
Het |
Vmn1r17 |
T |
A |
6: 57,337,583 (GRCm39) |
I212F |
probably benign |
Het |
Vmn2r68 |
A |
C |
7: 84,870,972 (GRCm39) |
N770K |
probably damaging |
Het |
Zfhx3 |
T |
C |
8: 109,673,132 (GRCm39) |
V1394A |
probably damaging |
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 |
|
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 |
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 |
2016-08-02 |