Incidental Mutation 'R4368:Jhy'
| ID |
325856 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jhy
|
| Ensembl Gene |
ENSMUSG00000032023 |
| Gene Name |
junctional cadherin complex regulator |
| Synonyms |
4931429I11Rik |
| MMRRC Submission |
041115-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R4368 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
40806145-40875414 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 40828440 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 489
(N489Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034521
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034521]
|
| AlphaFold |
E9Q793 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034521
AA Change: N489Y
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000034521
Gene: ENSMUSG00000032023
AA Change: N489Y
| 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 |
|
| Meta Mutation Damage Score |
0.0874 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
98% (46/47) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449A18Rik |
A |
G |
3: 59,754,199 (GRCm39) |
|
noncoding transcript |
Het |
| Aadacl2fm2 |
T |
C |
3: 59,659,387 (GRCm39) |
F280S |
probably damaging |
Het |
| Adamts7 |
G |
A |
9: 90,077,904 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
A |
C |
13: 81,641,029 (GRCm39) |
S3335R |
unknown |
Het |
| Armc6 |
G |
A |
8: 70,677,943 (GRCm39) |
L129F |
probably benign |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Bltp1 |
C |
T |
3: 37,042,296 (GRCm39) |
Q2761* |
probably null |
Het |
| Cdh19 |
G |
A |
1: 110,817,442 (GRCm39) |
Q767* |
probably null |
Het |
| Cep120 |
G |
A |
18: 53,818,957 (GRCm39) |
|
probably null |
Het |
| Dhx38 |
C |
T |
8: 110,279,763 (GRCm39) |
V976I |
probably damaging |
Het |
| Efr3a |
T |
A |
15: 65,738,629 (GRCm39) |
F753I |
possibly damaging |
Het |
| Hspb7 |
A |
T |
4: 141,151,329 (GRCm39) |
E157V |
probably damaging |
Het |
| Irx6 |
A |
G |
8: 93,405,029 (GRCm39) |
E299G |
probably damaging |
Het |
| Klhl22 |
T |
C |
16: 17,607,137 (GRCm39) |
V481A |
possibly damaging |
Het |
| Mapk13 |
A |
G |
17: 28,996,539 (GRCm39) |
|
probably null |
Het |
| Meis1 |
A |
T |
11: 18,960,656 (GRCm39) |
|
probably benign |
Het |
| Nlrp14 |
A |
G |
7: 106,797,012 (GRCm39) |
K301E |
probably benign |
Het |
| Nol10 |
T |
C |
12: 17,429,293 (GRCm39) |
Y340H |
probably damaging |
Het |
| Or2k2 |
T |
C |
4: 58,785,153 (GRCm39) |
S190G |
probably benign |
Het |
| Paqr3 |
T |
C |
5: 97,256,150 (GRCm39) |
S75G |
probably damaging |
Het |
| Pdgfa |
T |
C |
5: 138,972,061 (GRCm39) |
T113A |
probably damaging |
Het |
| Phactr2 |
A |
G |
10: 13,129,564 (GRCm39) |
S235P |
probably damaging |
Het |
| Psph |
T |
G |
5: 129,848,654 (GRCm39) |
K9T |
probably benign |
Het |
| Ptpn21 |
T |
C |
12: 98,644,852 (GRCm39) |
Y1163C |
probably damaging |
Het |
| Scaf8 |
T |
C |
17: 3,221,470 (GRCm39) |
L319P |
unknown |
Het |
| Slc4a7 |
C |
T |
14: 14,733,775 (GRCm38) |
R62W |
probably damaging |
Het |
| Slc6a3 |
C |
A |
13: 73,709,031 (GRCm39) |
C318* |
probably null |
Het |
| Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
| Taf1c |
A |
C |
8: 120,326,055 (GRCm39) |
S602R |
possibly damaging |
Het |
| Tiam2 |
A |
G |
17: 3,464,958 (GRCm39) |
D229G |
probably benign |
Het |
| Tor1a |
A |
G |
2: 30,857,382 (GRCm39) |
|
probably benign |
Het |
| Trim45 |
T |
C |
3: 100,830,502 (GRCm39) |
I92T |
probably damaging |
Het |
| Ttll8 |
G |
A |
15: 88,798,384 (GRCm39) |
P784S |
possibly damaging |
Het |
| Tubg1 |
G |
T |
11: 101,016,190 (GRCm39) |
|
probably null |
Het |
| Vmn1r178 |
A |
T |
7: 23,593,447 (GRCm39) |
N92I |
probably damaging |
Het |
| Vmn2r87 |
A |
G |
10: 130,315,676 (GRCm39) |
V130A |
probably benign |
Het |
| Wdr46 |
A |
G |
17: 34,160,120 (GRCm39) |
|
probably benign |
Het |
| Yme1l1 |
A |
G |
2: 23,050,223 (GRCm39) |
H18R |
possibly damaging |
Het |
| Zfp263 |
T |
A |
16: 3,562,770 (GRCm39) |
|
probably benign |
Het |
| Zfp534 |
T |
C |
4: 147,760,015 (GRCm39) |
D218G |
probably benign |
Het |
| Zscan12 |
T |
C |
13: 21,553,553 (GRCm39) |
V459A |
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 |
|
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 |
|
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'- GCACACATTATGCACAGGTG -3'
(R):5'- AAAGTCACCTCCGACTCTTTCG -3'
Sequencing Primer
(F):5'- TGCAATGAGATCTGACGCC -3'
(R):5'- GACTCTTTCGTTTCACCTAAGCAG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation