Incidental Mutation 'IGL03080:Jhy'
| ID |
417824 |
| 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 # |
IGL03080
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
40806145-40875414 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 40855653 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 278
(E278G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034521
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034521]
|
| AlphaFold |
E9Q793 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034521
AA Change: E278G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034521
Gene: ENSMUSG00000032023
AA Change: E278G
| 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 |
|---|
| Abce1 |
T |
C |
8: 80,429,630 (GRCm39) |
|
probably null |
Het |
| Adgrf3 |
T |
C |
5: 30,401,827 (GRCm39) |
M734V |
probably benign |
Het |
| Aqp8 |
T |
G |
7: 123,065,802 (GRCm39) |
|
probably benign |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Cntn4 |
A |
G |
6: 106,632,500 (GRCm39) |
D508G |
probably damaging |
Het |
| Cyp11b1 |
A |
T |
15: 74,711,285 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
A |
G |
17: 30,937,980 (GRCm39) |
D1619G |
probably benign |
Het |
| Eif1ad17 |
A |
T |
12: 87,978,615 (GRCm39) |
|
probably benign |
Het |
| Ephb4 |
T |
A |
5: 137,352,345 (GRCm39) |
|
probably benign |
Het |
| Ffar3 |
A |
T |
7: 30,554,747 (GRCm39) |
V191E |
probably damaging |
Het |
| Galnt1 |
T |
A |
18: 24,402,574 (GRCm39) |
D310E |
probably damaging |
Het |
| Igf2r |
T |
C |
17: 12,945,563 (GRCm39) |
Y342C |
probably benign |
Het |
| Jade1 |
T |
A |
3: 41,554,510 (GRCm39) |
C251* |
probably null |
Het |
| Kif24 |
A |
C |
4: 41,394,417 (GRCm39) |
S819A |
probably benign |
Het |
| Lrp8 |
T |
C |
4: 107,712,996 (GRCm39) |
L344P |
probably damaging |
Het |
| Lrrc27 |
A |
G |
7: 138,810,153 (GRCm39) |
T375A |
probably benign |
Het |
| Mbd3 |
C |
T |
10: 80,229,085 (GRCm39) |
R204Q |
probably damaging |
Het |
| Nab2 |
T |
C |
10: 127,500,663 (GRCm39) |
N143S |
possibly damaging |
Het |
| Nkiras2 |
T |
C |
11: 100,515,105 (GRCm39) |
|
probably null |
Het |
| Or7e174 |
A |
T |
9: 20,012,705 (GRCm39) |
I217F |
probably damaging |
Het |
| Palm |
C |
A |
10: 79,654,951 (GRCm39) |
H74Q |
probably damaging |
Het |
| Pros1 |
T |
A |
16: 62,738,506 (GRCm39) |
N408K |
probably damaging |
Het |
| Psg23 |
T |
A |
7: 18,340,910 (GRCm39) |
Y448F |
probably damaging |
Het |
| Ranbp2 |
C |
A |
10: 58,312,613 (GRCm39) |
P1111Q |
probably benign |
Het |
| Rims2 |
A |
G |
15: 39,399,299 (GRCm39) |
S1115G |
probably damaging |
Het |
| Scn7a |
T |
C |
2: 66,528,160 (GRCm39) |
T777A |
probably benign |
Het |
| Spata31h1 |
T |
C |
10: 82,119,816 (GRCm39) |
D428G |
probably damaging |
Het |
| Stard3nl |
A |
T |
13: 19,554,648 (GRCm39) |
|
probably null |
Het |
| Sult1d1 |
T |
C |
5: 87,704,847 (GRCm39) |
D214G |
probably benign |
Het |
| Tmprss12 |
T |
C |
15: 100,190,529 (GRCm39) |
W300R |
probably damaging |
Het |
| Tmprss2 |
T |
C |
16: 97,398,044 (GRCm39) |
Y44C |
probably damaging |
Het |
| Ttk |
A |
G |
9: 83,725,136 (GRCm39) |
N154D |
probably damaging |
Het |
| Tut4 |
T |
A |
4: 108,363,021 (GRCm39) |
S444R |
probably damaging |
Het |
| Tyw1 |
T |
C |
5: 130,295,896 (GRCm39) |
Y108H |
probably damaging |
Het |
| Vmn2r44 |
C |
A |
7: 8,386,244 (GRCm39) |
|
probably benign |
Het |
| Zfand1 |
A |
G |
3: 10,405,797 (GRCm39) |
*269Q |
probably null |
Het |
| Zfp142 |
A |
T |
1: 74,610,368 (GRCm39) |
D1039E |
probably benign |
Het |
| Zkscan5 |
G |
T |
5: 145,155,460 (GRCm39) |
S377I |
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 |
|
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 |
2016-08-02 |
Incidental Mutation