Incidental Mutation 'IGL02651:Jhy'
ID |
302140 |
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 # |
IGL02651
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
40806145-40875414 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 40828631 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 425
(L425P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034521
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034521]
|
AlphaFold |
E9Q793 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034521
AA Change: L425P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000034521 Gene: ENSMUSG00000032023 AA Change: L425P
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
G |
A |
19: 31,909,906 (GRCm39) |
G233S |
probably benign |
Het |
Abcc1 |
T |
A |
16: 14,283,990 (GRCm39) |
C1202S |
probably benign |
Het |
Acaca |
C |
T |
11: 84,136,030 (GRCm39) |
|
probably benign |
Het |
Ap3b1 |
T |
A |
13: 94,613,529 (GRCm39) |
F676Y |
probably damaging |
Het |
Arhgef11 |
C |
A |
3: 87,606,171 (GRCm39) |
Q309K |
probably damaging |
Het |
Asgr1 |
T |
C |
11: 69,947,956 (GRCm39) |
Y80H |
possibly damaging |
Het |
Atp13a5 |
A |
T |
16: 29,152,909 (GRCm39) |
|
probably benign |
Het |
Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
Atp8b2 |
A |
C |
3: 89,861,896 (GRCm39) |
|
probably null |
Het |
Btnl2 |
A |
G |
17: 34,575,196 (GRCm39) |
M1V |
probably null |
Het |
Cpsf3 |
T |
A |
12: 21,343,298 (GRCm39) |
M121K |
probably damaging |
Het |
Creb3l3 |
A |
G |
10: 80,920,668 (GRCm39) |
I454T |
probably benign |
Het |
Cyp2d12 |
A |
G |
15: 82,440,941 (GRCm39) |
E153G |
probably damaging |
Het |
Dnah5 |
A |
G |
15: 28,350,768 (GRCm39) |
I2597V |
probably benign |
Het |
Ercc5 |
C |
A |
1: 44,196,104 (GRCm39) |
S32R |
probably damaging |
Het |
Fchsd2 |
T |
A |
7: 100,926,807 (GRCm39) |
N656K |
possibly damaging |
Het |
Fga |
G |
A |
3: 82,935,841 (GRCm39) |
E23K |
probably benign |
Het |
Fn1 |
T |
C |
1: 71,636,835 (GRCm39) |
T1925A |
possibly damaging |
Het |
Fstl5 |
A |
T |
3: 76,500,841 (GRCm39) |
E423D |
probably damaging |
Het |
Glg1 |
C |
T |
8: 111,887,359 (GRCm39) |
M465I |
possibly damaging |
Het |
H2-M10.4 |
C |
A |
17: 36,771,548 (GRCm39) |
R210L |
probably benign |
Het |
Hbb-y |
T |
G |
7: 103,501,957 (GRCm39) |
K105Q |
probably benign |
Het |
Hspg2 |
A |
T |
4: 137,284,756 (GRCm39) |
|
probably benign |
Het |
Ipo11 |
T |
C |
13: 107,012,114 (GRCm39) |
Y556C |
probably damaging |
Het |
Itpr3 |
A |
G |
17: 27,325,372 (GRCm39) |
M1322V |
probably damaging |
Het |
Krt26 |
C |
T |
11: 99,224,471 (GRCm39) |
R349Q |
probably benign |
Het |
Ms4a6c |
A |
T |
19: 11,455,669 (GRCm39) |
E159D |
possibly damaging |
Het |
Msh6 |
A |
T |
17: 88,296,943 (GRCm39) |
L1213F |
probably damaging |
Het |
Npy1r |
A |
C |
8: 67,157,675 (GRCm39) |
R328S |
possibly damaging |
Het |
Or4a74 |
A |
T |
2: 89,439,842 (GRCm39) |
N201K |
possibly damaging |
Het |
Or5ak20 |
A |
C |
2: 85,183,394 (GRCm39) |
L292R |
probably damaging |
Het |
Pcdhb18 |
T |
G |
18: 37,624,234 (GRCm39) |
Y521* |
probably null |
Het |
Pkhd1l1 |
A |
T |
15: 44,347,210 (GRCm39) |
Y192F |
probably damaging |
Het |
Rdh12 |
T |
A |
12: 79,268,826 (GRCm39) |
I301N |
probably damaging |
Het |
Rptor |
T |
C |
11: 119,783,438 (GRCm39) |
V1144A |
possibly damaging |
Het |
Sap25 |
T |
C |
5: 137,640,632 (GRCm39) |
F171L |
possibly damaging |
Het |
Senp5 |
A |
G |
16: 31,808,897 (GRCm39) |
L92P |
probably benign |
Het |
Sfmbt1 |
T |
C |
14: 30,537,494 (GRCm39) |
S736P |
probably damaging |
Het |
Tacr1 |
T |
C |
6: 82,469,622 (GRCm39) |
S169P |
probably damaging |
Het |
Tbc1d21 |
A |
T |
9: 58,270,384 (GRCm39) |
Y130* |
probably null |
Het |
Tle2 |
G |
A |
10: 81,422,723 (GRCm39) |
G428D |
probably damaging |
Het |
Tmem117 |
T |
A |
15: 94,992,442 (GRCm39) |
N367K |
probably damaging |
Het |
Tmem210 |
A |
G |
2: 25,179,101 (GRCm39) |
T130A |
possibly damaging |
Het |
Ttn |
T |
G |
2: 76,680,368 (GRCm39) |
|
probably benign |
Het |
Ttyh1 |
T |
C |
7: 4,127,678 (GRCm39) |
L122P |
probably damaging |
Het |
Vmn2r60 |
T |
C |
7: 41,845,010 (GRCm39) |
F791S |
probably damaging |
Het |
Vps13d |
A |
T |
4: 144,891,129 (GRCm39) |
N575K |
probably benign |
Het |
Vps8 |
T |
C |
16: 21,336,086 (GRCm39) |
V746A |
probably damaging |
Het |
Wdfy3 |
A |
T |
5: 102,044,341 (GRCm39) |
M1888K |
probably benign |
Het |
Zfp595 |
T |
C |
13: 67,469,017 (GRCm39) |
D3G |
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 |
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 |
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 |