Incidental Mutation 'IGL02406:Jhy'
ID |
292076 |
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 # |
IGL02406
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
40806145-40875414 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 40822285 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 618
(Y618H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034521
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034521]
|
AlphaFold |
E9Q793 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034521
AA Change: Y618H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000034521 Gene: ENSMUSG00000032023 AA Change: Y618H
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
G |
T |
7: 120,139,825 (GRCm39) |
A1496S |
probably damaging |
Het |
Abra |
A |
T |
15: 41,732,583 (GRCm39) |
V161E |
probably damaging |
Het |
Adcy4 |
G |
A |
14: 56,007,504 (GRCm39) |
T942I |
possibly damaging |
Het |
Atrip |
A |
G |
9: 108,894,487 (GRCm39) |
V480A |
probably damaging |
Het |
Azin1 |
A |
T |
15: 38,491,809 (GRCm39) |
D382E |
probably benign |
Het |
BC034090 |
G |
T |
1: 155,100,899 (GRCm39) |
A455E |
probably benign |
Het |
Clstn1 |
A |
G |
4: 149,711,816 (GRCm39) |
Y121C |
probably damaging |
Het |
Cpq |
T |
A |
15: 33,302,654 (GRCm39) |
N268K |
probably damaging |
Het |
Cpsf7 |
A |
G |
19: 10,509,352 (GRCm39) |
S88G |
probably damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Cyp2j11 |
G |
A |
4: 96,236,776 (GRCm39) |
A10V |
possibly damaging |
Het |
Dock4 |
T |
C |
12: 40,827,206 (GRCm39) |
V983A |
probably benign |
Het |
Dspp |
G |
T |
5: 104,325,232 (GRCm39) |
E532* |
probably null |
Het |
Ercc4 |
G |
T |
16: 12,941,400 (GRCm39) |
D243Y |
probably damaging |
Het |
Fars2 |
C |
A |
13: 36,594,145 (GRCm39) |
D383E |
probably benign |
Het |
Fip1l1 |
A |
G |
5: 74,725,205 (GRCm39) |
T280A |
probably benign |
Het |
Gcgr |
T |
G |
11: 120,428,010 (GRCm39) |
N292K |
probably damaging |
Het |
Gtpbp4 |
T |
A |
13: 9,041,786 (GRCm39) |
K85M |
possibly damaging |
Het |
Mbd4 |
A |
T |
6: 115,825,986 (GRCm39) |
I314N |
possibly damaging |
Het |
Mbtd1 |
C |
T |
11: 93,799,684 (GRCm39) |
T70M |
probably damaging |
Het |
Mki67 |
T |
C |
7: 135,300,522 (GRCm39) |
H1504R |
probably benign |
Het |
Mks1 |
T |
C |
11: 87,753,611 (GRCm39) |
V515A |
probably benign |
Het |
Msantd2 |
G |
T |
9: 37,434,755 (GRCm39) |
V332L |
probably damaging |
Het |
Myrip |
A |
T |
9: 120,296,598 (GRCm39) |
T836S |
probably benign |
Het |
Nbea |
T |
C |
3: 55,993,687 (GRCm39) |
I238V |
probably benign |
Het |
Plekhh1 |
T |
C |
12: 79,115,783 (GRCm39) |
|
probably benign |
Het |
Prkdc |
A |
G |
16: 15,488,399 (GRCm39) |
N507S |
probably benign |
Het |
Prss12 |
G |
A |
3: 123,299,123 (GRCm39) |
V632I |
possibly damaging |
Het |
Puf60 |
A |
G |
15: 75,946,458 (GRCm39) |
S121P |
probably damaging |
Het |
Raet1e |
G |
A |
10: 22,056,535 (GRCm39) |
C37Y |
probably damaging |
Het |
Ralgps2 |
G |
T |
1: 156,655,838 (GRCm39) |
A362E |
possibly damaging |
Het |
Scn1a |
A |
G |
2: 66,156,380 (GRCm39) |
S510P |
possibly damaging |
Het |
Skap2 |
A |
C |
6: 51,851,453 (GRCm39) |
|
probably null |
Het |
Slc4a10 |
G |
A |
2: 62,021,113 (GRCm39) |
V54M |
probably benign |
Het |
Spata17 |
A |
G |
1: 186,849,458 (GRCm39) |
|
probably null |
Het |
Stoml3 |
T |
A |
3: 53,410,671 (GRCm39) |
N128K |
probably damaging |
Het |
Tatdn2 |
T |
A |
6: 113,681,174 (GRCm39) |
S402R |
probably benign |
Het |
Tmprss11f |
A |
G |
5: 86,681,525 (GRCm39) |
W243R |
probably damaging |
Het |
Vmn2r32 |
A |
G |
7: 7,479,709 (GRCm39) |
Y155H |
probably benign |
Het |
Vmn2r86 |
T |
A |
10: 130,284,508 (GRCm39) |
T528S |
possibly damaging |
Het |
Zfhx3 |
C |
T |
8: 109,682,374 (GRCm39) |
A3271V |
unknown |
Het |
Zkscan3 |
T |
C |
13: 21,572,348 (GRCm39) |
N428S |
possibly damaging |
Het |
Zxdc |
A |
G |
6: 90,375,818 (GRCm39) |
S765G |
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 |
|
IGL02177:Jhy
|
APN |
9 |
40,809,553 (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 |