Incidental Mutation 'R3841:F11r'
| ID |
277141 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
F11r
|
| Ensembl Gene |
ENSMUSG00000038235 |
| Gene Name |
F11 receptor |
| Synonyms |
JAM-A, Jcam1, Ly106, BV11 antigen, ESTM33, JAM-1 |
| MMRRC Submission |
040781-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R3841 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
171265129-171292161 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 171288457 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 100
(R100L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041907
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043839]
|
| AlphaFold |
O88792 |
| PDB Structure |
SOLUBLE PART OF THE JUNCTION ADHESION MOLECULE FROM MOUSE [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043839
AA Change: R100L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041907
Gene: ENSMUSG00000038235
AA Change: R100L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
IGv
|
44 |
110 |
9.93e-8 |
SMART |
|
IGc2
|
143 |
219 |
1.82e-6 |
SMART |
|
transmembrane domain
|
239 |
261 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144497
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155913
|
| Meta Mutation Damage Score |
0.5827 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
98% (43/44) |
| 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 an important regulator of tight junction assembly in epithelia. In addition, the encoded protein can act as (1) a receptor for reovirus, (2) a ligand for the integrin LFA1, involved in leukocyte transmigration, and (3) a platelet receptor. Multiple 5' alternatively spliced variants, encoding the same protein, have been identified but their biological validity has not been established. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display increased dendritic cell migratory ability and contact hypersensitivity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
A |
T |
18: 6,620,104 (GRCm39) |
K11N |
probably benign |
Het |
| Atp8b3 |
A |
G |
10: 80,365,540 (GRCm39) |
F405L |
possibly damaging |
Het |
| BC035947 |
G |
T |
1: 78,474,482 (GRCm39) |
N683K |
probably benign |
Het |
| Bmper |
T |
A |
9: 23,384,727 (GRCm39) |
|
probably null |
Het |
| Btnl7-ps |
A |
G |
17: 34,761,550 (GRCm39) |
|
noncoding transcript |
Het |
| Cmya5 |
A |
G |
13: 93,231,140 (GRCm39) |
V1316A |
probably damaging |
Het |
| Cracd |
A |
T |
5: 77,006,858 (GRCm39) |
Q1073L |
unknown |
Het |
| Dgcr6 |
C |
A |
16: 17,888,077 (GRCm39) |
Y200* |
probably null |
Het |
| Dsp |
A |
C |
13: 38,381,681 (GRCm39) |
I2210L |
probably benign |
Het |
| Eef1e1 |
G |
A |
13: 38,840,167 (GRCm39) |
T46I |
probably damaging |
Het |
| Epc2 |
A |
G |
2: 49,378,750 (GRCm39) |
K68R |
probably damaging |
Het |
| Fam83c |
C |
T |
2: 155,676,668 (GRCm39) |
R34H |
probably benign |
Het |
| Fbxw25 |
A |
T |
9: 109,491,202 (GRCm39) |
Y105* |
probably null |
Het |
| Ggt1 |
T |
A |
10: 75,417,219 (GRCm39) |
Y5* |
probably null |
Het |
| Hipk2 |
T |
C |
6: 38,795,861 (GRCm39) |
E136G |
probably damaging |
Het |
| Hsph1 |
T |
A |
5: 149,544,180 (GRCm39) |
|
probably null |
Het |
| Impdh1 |
A |
G |
6: 29,202,768 (GRCm39) |
S421P |
probably damaging |
Het |
| Jhy |
T |
A |
9: 40,856,142 (GRCm39) |
E115V |
probably benign |
Het |
| Kmt2a |
T |
C |
9: 44,742,588 (GRCm39) |
|
probably benign |
Het |
| Ldlrap1 |
T |
C |
4: 134,477,747 (GRCm39) |
T159A |
probably damaging |
Het |
| Lrrc4c |
A |
G |
2: 97,460,537 (GRCm39) |
T388A |
probably damaging |
Het |
| Map3k10 |
C |
A |
7: 27,357,789 (GRCm39) |
C663F |
possibly damaging |
Het |
| Me3 |
A |
T |
7: 89,435,701 (GRCm39) |
N179Y |
possibly damaging |
Het |
| Medag |
T |
A |
5: 149,350,888 (GRCm39) |
I121N |
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 |
| Or52s1 |
G |
A |
7: 102,861,900 (GRCm39) |
G267R |
probably damaging |
Het |
| Or6c35 |
A |
G |
10: 129,169,202 (GRCm39) |
I151V |
probably benign |
Het |
| Otud1 |
G |
T |
2: 19,663,554 (GRCm39) |
E228* |
probably null |
Het |
| Parp4 |
A |
T |
14: 56,825,235 (GRCm39) |
N120Y |
probably damaging |
Het |
| Ptprb |
T |
C |
10: 116,182,887 (GRCm39) |
V1521A |
possibly damaging |
Het |
| Rap1gap |
T |
C |
4: 137,444,758 (GRCm39) |
F182S |
probably damaging |
Het |
| Rcan2 |
A |
G |
17: 44,347,870 (GRCm39) |
K193R |
probably benign |
Het |
| Rdh19 |
A |
T |
10: 127,692,755 (GRCm39) |
M141L |
probably benign |
Het |
| Selenok |
C |
T |
14: 29,695,337 (GRCm39) |
R72* |
probably null |
Het |
| Tbpl1 |
A |
G |
10: 22,587,807 (GRCm39) |
|
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,917,897 (GRCm39) |
E2270G |
possibly damaging |
Het |
| Tulp1 |
A |
G |
17: 28,572,689 (GRCm39) |
V489A |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,611,065 (GRCm39) |
|
probably benign |
Het |
| Zfp617 |
G |
A |
8: 72,685,961 (GRCm39) |
G97E |
probably damaging |
Het |
| Zfp773 |
A |
G |
7: 7,135,390 (GRCm39) |
V402A |
possibly damaging |
Het |
|
| Other mutations in F11r |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00771:F11r
|
APN |
1 |
171,290,510 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01431:F11r
|
APN |
1 |
171,290,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0481:F11r
|
UTSW |
1 |
171,288,847 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0486:F11r
|
UTSW |
1 |
171,288,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1944:F11r
|
UTSW |
1 |
171,289,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1984:F11r
|
UTSW |
1 |
171,289,438 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2423:F11r
|
UTSW |
1 |
171,289,191 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3545:F11r
|
UTSW |
1 |
171,288,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3840:F11r
|
UTSW |
1 |
171,288,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4007:F11r
|
UTSW |
1 |
171,288,916 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4744:F11r
|
UTSW |
1 |
171,288,166 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4775:F11r
|
UTSW |
1 |
171,289,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6384:F11r
|
UTSW |
1 |
171,288,508 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8052:F11r
|
UTSW |
1 |
171,289,191 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8215:F11r
|
UTSW |
1 |
171,290,656 (GRCm39) |
makesense |
probably null |
|
|
R8217:F11r
|
UTSW |
1 |
171,290,656 (GRCm39) |
makesense |
probably null |
|
|
R8377:F11r
|
UTSW |
1 |
171,265,111 (GRCm39) |
start gained |
probably benign |
|
|
R8963:F11r
|
UTSW |
1 |
171,288,505 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9154:F11r
|
UTSW |
1 |
171,289,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF063:F11r
|
UTSW |
1 |
171,288,758 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTAATCGACACTGCCCAGC -3'
(R):5'- CCTTAGGTCCTATCAAACCAGGG -3'
Sequencing Primer
(F):5'- ACACTGCCCAGCCTGGATTC -3'
(R):5'- TCCTATCAAACCAGGGGGCTC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation