Incidental Mutation 'R3840:Jhy'
| ID |
277115 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jhy
|
| Ensembl Gene |
ENSMUSG00000032023 |
| Gene Name |
junctional cadherin complex regulator |
| Synonyms |
4931429I11Rik |
| MMRRC Submission |
040780-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R3840 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
40806145-40875414 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 40856142 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 115
(E115V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034521
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034521]
|
| AlphaFold |
E9Q793 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034521
AA Change: E115V
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000034521
Gene: ENSMUSG00000032023
AA Change: E115V
| 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 |
0.0869 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
A |
T |
18: 6,620,104 (GRCm39) |
K11N |
probably benign |
Het |
| Abcc8 |
A |
G |
7: 45,757,524 (GRCm39) |
I1375T |
possibly damaging |
Het |
| Ate1 |
A |
T |
7: 130,117,867 (GRCm39) |
D39E |
probably damaging |
Het |
| BC035947 |
G |
T |
1: 78,474,482 (GRCm39) |
N683K |
probably benign |
Het |
| Cdca2 |
A |
T |
14: 67,917,720 (GRCm39) |
Y559* |
probably null |
Het |
| Cmya5 |
A |
G |
13: 93,231,140 (GRCm39) |
V1316A |
probably damaging |
Het |
| Cntnap5b |
C |
T |
1: 100,311,202 (GRCm39) |
T936I |
possibly damaging |
Het |
| Col6a5 |
T |
C |
9: 105,805,810 (GRCm39) |
N1032S |
unknown |
Het |
| Cracd |
A |
T |
5: 77,006,858 (GRCm39) |
Q1073L |
unknown |
Het |
| Epc2 |
A |
G |
2: 49,378,750 (GRCm39) |
K68R |
probably damaging |
Het |
| Erbb3 |
A |
T |
10: 128,406,193 (GRCm39) |
F1075I |
probably benign |
Het |
| F11r |
G |
T |
1: 171,288,457 (GRCm39) |
R100L |
probably damaging |
Het |
| Fam171b |
C |
A |
2: 83,710,406 (GRCm39) |
Q693K |
possibly damaging |
Het |
| Fam83c |
C |
T |
2: 155,676,668 (GRCm39) |
R34H |
probably benign |
Het |
| Fmn2 |
GAAGA |
GAAGAAAGA |
1: 174,409,599 (GRCm39) |
|
probably null |
Het |
| Gask1b |
T |
A |
3: 79,815,897 (GRCm39) |
D302E |
probably benign |
Het |
| Ggt1 |
T |
A |
10: 75,417,219 (GRCm39) |
Y5* |
probably null |
Het |
| Hsph1 |
T |
A |
5: 149,544,180 (GRCm39) |
|
probably null |
Het |
| Kcnu1 |
G |
T |
8: 26,375,380 (GRCm39) |
V365L |
possibly damaging |
Het |
| Lrrc4c |
A |
G |
2: 97,460,537 (GRCm39) |
T388A |
probably damaging |
Het |
| Mastl |
T |
C |
2: 23,030,563 (GRCm39) |
D202G |
probably damaging |
Het |
| Medag |
T |
A |
5: 149,350,888 (GRCm39) |
I121N |
probably damaging |
Het |
| Mideas |
T |
C |
12: 84,218,383 (GRCm39) |
R526G |
probably damaging |
Het |
| Mocos |
C |
T |
18: 24,809,681 (GRCm39) |
A428V |
probably damaging |
Het |
| Mok |
C |
T |
12: 110,781,591 (GRCm39) |
V59M |
probably benign |
Het |
| Neb |
C |
A |
2: 52,097,672 (GRCm39) |
|
probably null |
Het |
| Nr2c2 |
C |
T |
6: 92,140,119 (GRCm39) |
R464W |
probably damaging |
Het |
| Or10al7 |
A |
G |
17: 38,366,239 (GRCm39) |
S73P |
probably damaging |
Het |
| Or52s1 |
G |
A |
7: 102,861,900 (GRCm39) |
G267R |
probably damaging |
Het |
| Otud1 |
G |
T |
2: 19,663,554 (GRCm39) |
E228* |
probably null |
Het |
| Pcdhga11 |
A |
T |
18: 37,890,602 (GRCm39) |
N537Y |
probably damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,839,050 (GRCm39) |
Y878C |
probably damaging |
Het |
| Podxl |
C |
T |
6: 31,500,016 (GRCm39) |
V485I |
probably damaging |
Het |
| Psmd12 |
T |
C |
11: 107,376,398 (GRCm39) |
I44T |
probably benign |
Het |
| Rap1gap |
T |
C |
4: 137,444,758 (GRCm39) |
F182S |
probably damaging |
Het |
| Slc22a13 |
T |
C |
9: 119,037,855 (GRCm39) |
D91G |
probably benign |
Het |
| Slc4a11 |
A |
G |
2: 130,529,974 (GRCm39) |
F268S |
probably damaging |
Het |
| Snap91 |
C |
T |
9: 86,721,618 (GRCm39) |
V74M |
probably damaging |
Het |
| Tmem87b |
T |
A |
2: 128,668,304 (GRCm39) |
L150* |
probably null |
Het |
| Tmprss7 |
T |
A |
16: 45,481,195 (GRCm39) |
R664* |
probably null |
Het |
| Tnfrsf11b |
T |
A |
15: 54,115,478 (GRCm39) |
H373L |
probably damaging |
Het |
| Tnfrsf23 |
A |
G |
7: 143,235,266 (GRCm39) |
S33P |
probably benign |
Het |
| Tro |
A |
G |
X: 149,429,198 (GRCm39) |
|
probably benign |
Het |
| Tulp1 |
A |
G |
17: 28,572,689 (GRCm39) |
V489A |
probably damaging |
Het |
| Wac |
C |
A |
18: 7,918,535 (GRCm39) |
P416H |
probably damaging |
Het |
| Zap70 |
T |
A |
1: 36,817,498 (GRCm39) |
I247N |
probably damaging |
Het |
| Zfp617 |
G |
A |
8: 72,685,961 (GRCm39) |
G97E |
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 |
|
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 |
|
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'- AAGTAAGGAGGCTTCGCTCTG -3'
(R):5'- CACCCTCACCAGCTAGATAGTG -3'
Sequencing Primer
(F):5'- AGGCTTCGCTCTGAGGACTC -3'
(R):5'- CCTCACCAGCTAGATAGTGAAAGG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation