Incidental Mutation 'IGL01311:Jam3'
| ID |
73680 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Jam3
|
| Ensembl Gene |
ENSMUSG00000031990 |
| Gene Name |
junction adhesion molecule 3 |
| Synonyms |
1110002N23Rik, Jcam3, JAM-3, JAM-C |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.592)
|
| Stock # |
IGL01311
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
27008680-27066717 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 27010019 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 296
(T296P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034472
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034472]
[ENSMUST00000073127]
[ENSMUST00000086198]
[ENSMUST00000216677]
|
| AlphaFold |
Q9D8B7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034472
AA Change: T296P
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000034472
Gene: ENSMUSG00000031990
AA Change: T296P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
IG
|
38 |
136 |
2.7e-9 |
SMART |
|
IGc2
|
151 |
226 |
8.12e-13 |
SMART |
|
transmembrane domain
|
245 |
267 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073127
|
| SMART Domains |
Protein: ENSMUSP00000072871
Gene: ENSMUSG00000035024
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
159 |
170 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
184 |
N/A |
INTRINSIC |
|
Pfam:Cnd1
|
949 |
1148 |
1.7e-46 |
PFAM |
|
low complexity region
|
1192 |
1200 |
N/A |
INTRINSIC |
|
coiled coil region
|
1213 |
1270 |
N/A |
INTRINSIC |
|
low complexity region
|
1290 |
1315 |
N/A |
INTRINSIC |
|
low complexity region
|
1393 |
1410 |
N/A |
INTRINSIC |
|
low complexity region
|
1485 |
1498 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086198
|
| SMART Domains |
Protein: ENSMUSP00000083374
Gene: ENSMUSG00000035024
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
159 |
170 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
184 |
N/A |
INTRINSIC |
|
Pfam:Cohesin_HEAT
|
536 |
560 |
4.6e-5 |
PFAM |
|
Pfam:Cnd1
|
949 |
1148 |
6.6e-59 |
PFAM |
|
low complexity region
|
1192 |
1200 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167074
|
| SMART Domains |
Protein: ENSMUSP00000128003
Gene: ENSMUSG00000031990
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
18 |
24 |
N/A |
INTRINSIC |
|
IG
|
38 |
136 |
2.7e-9 |
SMART |
|
Pfam:C2-set_2
|
138 |
206 |
4.8e-7 |
PFAM |
|
Pfam:Ig_3
|
139 |
206 |
7.1e-5 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213170
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214432
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215446
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217654
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216677
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. The protein encoded by this immunoglobulin superfamily gene member is localized in the tight junctions between high endothelial cells. Unlike other proteins in this family, the this protein is unable to adhere to leukocyte cell lines and only forms weak homotypic interactions. The encoded protein is a member of the junctional adhesion molecule protein family and acts as a receptor for another member of this family. A mutation in an intron of this gene is associated with hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Apr 2011]
PHENOTYPE: Approximately 60% of mice homozygous for a targeted mutation exhibit postnatal lethality. Males are infertile and display small testes and arrested differentiation of round spermatids into spermatozoa, as shown by the absence of acrosomes, elongated nuclei, and morphological signs of polarization. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap1 |
A |
T |
7: 101,037,343 (GRCm39) |
K457* |
probably null |
Het |
| Arhgef10 |
C |
A |
8: 15,041,054 (GRCm39) |
|
probably null |
Het |
| Becn1 |
C |
T |
11: 101,182,342 (GRCm39) |
G281S |
probably damaging |
Het |
| Borcs8 |
A |
G |
8: 70,617,818 (GRCm39) |
S59G |
probably damaging |
Het |
| Brd10 |
C |
T |
19: 29,731,420 (GRCm39) |
V531I |
probably benign |
Het |
| Capn5 |
C |
A |
7: 97,811,130 (GRCm39) |
R53L |
probably damaging |
Het |
| Cdk5 |
C |
T |
5: 24,624,593 (GRCm39) |
|
probably null |
Het |
| Cnksr1 |
A |
G |
4: 133,957,777 (GRCm39) |
L434P |
probably damaging |
Het |
| Col22a1 |
C |
T |
15: 71,845,486 (GRCm39) |
|
probably benign |
Het |
| Fn1 |
T |
C |
1: 71,667,299 (GRCm39) |
D811G |
probably damaging |
Het |
| Haus3 |
G |
A |
5: 34,324,988 (GRCm39) |
Q224* |
probably null |
Het |
| Jakmip2 |
A |
G |
18: 43,690,389 (GRCm39) |
|
probably benign |
Het |
| Kcnrg |
T |
C |
14: 61,849,274 (GRCm39) |
L245P |
probably damaging |
Het |
| Kif1b |
A |
G |
4: 149,305,059 (GRCm39) |
L909P |
probably damaging |
Het |
| Klrc3 |
T |
C |
6: 129,618,375 (GRCm39) |
D136G |
probably damaging |
Het |
| Lrrc37 |
T |
A |
11: 103,425,502 (GRCm39) |
R1450S |
unknown |
Het |
| Ltf |
T |
C |
9: 110,860,080 (GRCm39) |
|
probably benign |
Het |
| Meig1 |
A |
T |
2: 3,410,245 (GRCm39) |
V85D |
possibly damaging |
Het |
| Mrgprb2 |
T |
A |
7: 48,201,746 (GRCm39) |
E326D |
probably benign |
Het |
| Nlrp2 |
T |
A |
7: 5,322,238 (GRCm39) |
D65V |
possibly damaging |
Het |
| Or4c100 |
T |
C |
2: 88,356,104 (GRCm39) |
F59S |
possibly damaging |
Het |
| Or52h7 |
T |
C |
7: 104,214,036 (GRCm39) |
Y203H |
probably damaging |
Het |
| Padi2 |
G |
A |
4: 140,644,948 (GRCm39) |
V61I |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,851,174 (GRCm39) |
S753G |
possibly damaging |
Het |
| Ppp4r3b |
T |
C |
11: 29,144,591 (GRCm39) |
S314P |
probably benign |
Het |
| Serpina3i |
T |
C |
12: 104,233,946 (GRCm39) |
S305P |
probably damaging |
Het |
| Slc16a4 |
G |
T |
3: 107,199,821 (GRCm39) |
V23F |
possibly damaging |
Het |
| Slc25a34 |
G |
A |
4: 141,348,747 (GRCm39) |
T239I |
possibly damaging |
Het |
| Srebf2 |
T |
C |
15: 82,076,404 (GRCm39) |
|
probably benign |
Het |
| Tasor2 |
A |
G |
13: 3,625,885 (GRCm39) |
V1355A |
possibly damaging |
Het |
| Tcf12 |
A |
T |
9: 71,765,938 (GRCm39) |
|
probably benign |
Het |
| Tnpo3 |
T |
C |
6: 29,586,077 (GRCm39) |
E171G |
possibly damaging |
Het |
| Ubr4 |
A |
G |
4: 139,206,356 (GRCm39) |
H4864R |
possibly damaging |
Het |
| Vmn2r108 |
A |
T |
17: 20,682,939 (GRCm39) |
L755* |
probably null |
Het |
| Zfp292 |
C |
T |
4: 34,807,961 (GRCm39) |
M1699I |
probably benign |
Het |
| Zmynd8 |
T |
C |
2: 165,647,129 (GRCm39) |
D880G |
probably damaging |
Het |
|
| Other mutations in Jam3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00971:Jam3
|
APN |
9 |
27,013,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01729:Jam3
|
APN |
9 |
27,016,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03233:Jam3
|
APN |
9 |
27,013,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03275:Jam3
|
APN |
9 |
27,012,545 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0267:Jam3
|
UTSW |
9 |
27,017,701 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0547:Jam3
|
UTSW |
9 |
27,010,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0899:Jam3
|
UTSW |
9 |
27,010,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1499:Jam3
|
UTSW |
9 |
27,017,701 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3926:Jam3
|
UTSW |
9 |
27,017,701 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4044:Jam3
|
UTSW |
9 |
27,013,159 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4977:Jam3
|
UTSW |
9 |
27,009,669 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6527:Jam3
|
UTSW |
9 |
27,066,640 (GRCm39) |
missense |
unknown |
|
|
R6759:Jam3
|
UTSW |
9 |
27,013,276 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7843:Jam3
|
UTSW |
9 |
27,017,712 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8088:Jam3
|
UTSW |
9 |
27,010,156 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9688:Jam3
|
UTSW |
9 |
27,010,204 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9700:Jam3
|
UTSW |
9 |
27,010,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation