Incidental Mutation 'R2371:Jhy'
ID |
247531 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Jhy
|
Ensembl Gene |
ENSMUSG00000032023 |
Gene Name |
junctional cadherin complex regulator |
Synonyms |
4931429I11Rik |
MMRRC Submission |
040351-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R2371 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
40806145-40875414 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 40828778 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 376
(T376I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034521
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034521]
|
AlphaFold |
E9Q793 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034521
AA Change: T376I
PolyPhen 2
Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000034521 Gene: ENSMUSG00000032023 AA Change: T376I
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 |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.0%
|
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
Adamts18 |
T |
A |
8: 114,431,893 (GRCm39) |
E1105V |
probably benign |
Het |
Colec10 |
A |
G |
15: 54,325,796 (GRCm39) |
I209V |
possibly damaging |
Het |
Cttnbp2 |
T |
G |
6: 18,380,603 (GRCm39) |
S1422R |
possibly damaging |
Het |
Dcst1 |
C |
G |
3: 89,265,949 (GRCm39) |
V179L |
possibly damaging |
Het |
Fbxw9 |
T |
C |
8: 85,788,658 (GRCm39) |
Y165H |
probably benign |
Het |
Fgl2 |
A |
T |
5: 21,580,816 (GRCm39) |
Y386F |
probably damaging |
Het |
Gabrb2 |
A |
G |
11: 42,482,691 (GRCm39) |
Y183C |
probably damaging |
Het |
Hlcs |
A |
G |
16: 94,068,926 (GRCm39) |
L245P |
probably damaging |
Het |
Hormad1 |
T |
A |
3: 95,482,910 (GRCm39) |
I132K |
probably benign |
Het |
Itga8 |
A |
T |
2: 12,258,277 (GRCm39) |
D262E |
probably damaging |
Het |
Kidins220 |
T |
C |
12: 25,107,323 (GRCm39) |
L1592P |
probably damaging |
Het |
Kif3b |
T |
C |
2: 153,164,743 (GRCm39) |
I587T |
possibly damaging |
Het |
Lrrc7 |
A |
G |
3: 157,866,697 (GRCm39) |
Y1015H |
probably damaging |
Het |
Lvrn |
T |
G |
18: 47,011,230 (GRCm39) |
|
probably null |
Het |
Mapkbp1 |
C |
A |
2: 119,841,261 (GRCm39) |
Q83K |
probably damaging |
Het |
Or2g25 |
T |
C |
17: 37,971,044 (GRCm39) |
Y60C |
probably damaging |
Het |
Or5b12 |
A |
T |
19: 12,897,031 (GRCm39) |
I214N |
probably benign |
Het |
Pigc |
T |
C |
1: 161,798,579 (GRCm39) |
V187A |
possibly damaging |
Het |
Ros1 |
A |
T |
10: 52,039,991 (GRCm39) |
H333Q |
possibly damaging |
Het |
Rreb1 |
T |
C |
13: 38,100,513 (GRCm39) |
F215L |
probably benign |
Het |
Rtcb |
C |
T |
10: 85,779,697 (GRCm39) |
M324I |
probably benign |
Het |
Senp2 |
A |
G |
16: 21,837,125 (GRCm39) |
I125V |
possibly damaging |
Het |
Shroom3 |
A |
G |
5: 92,928,729 (GRCm39) |
K95E |
probably damaging |
Het |
Wrnip1 |
C |
T |
13: 32,986,410 (GRCm39) |
P64S |
probably benign |
Het |
Zbtb24 |
C |
T |
10: 41,327,264 (GRCm39) |
A50V |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGCCTGCTTAGGTGAAACG -3'
(R):5'- AGAGTATTCATCTTCTGATCTTGCC -3'
Sequencing Primer
(F):5'- CCTGCTTAGGTGAAACGAAAGAGTC -3'
(R):5'- ATTCATCTTCTGATCTTGCCTTAAC -3'
|
Posted On |
2014-11-11 |