Incidental Mutation 'IGL00969:Igsf11'
| ID |
29192 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Igsf11
|
| Ensembl Gene |
ENSMUSG00000022790 |
| Gene Name |
immunoglobulin superfamily, member 11 |
| Synonyms |
1700025L02Rik, BT-IgSF |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00969
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
38713033-38847521 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 38829279 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 117
(T117S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023478
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023478]
[ENSMUST00000114706]
|
| AlphaFold |
P0C673 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023478
AA Change: T117S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000023478
Gene: ENSMUSG00000022790
AA Change: T117S
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
29 |
143 |
4.32e-8 |
SMART |
|
IGc2
|
156 |
222 |
2.54e-5 |
SMART |
|
transmembrane domain
|
240 |
262 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
286 |
N/A |
INTRINSIC |
|
low complexity region
|
301 |
319 |
N/A |
INTRINSIC |
|
Blast:DEXDc
|
355 |
425 |
8e-14 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114706
AA Change: T58S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110354
Gene: ENSMUSG00000022790
AA Change: T58S
| Domain | Start | End | E-Value | Type |
|---|
|
IG_like
|
11 |
84 |
3.12e1 |
SMART |
|
IGc2
|
97 |
163 |
2.54e-5 |
SMART |
|
transmembrane domain
|
181 |
203 |
N/A |
INTRINSIC |
|
low complexity region
|
212 |
227 |
N/A |
INTRINSIC |
|
low complexity region
|
242 |
260 |
N/A |
INTRINSIC |
|
Blast:DEXDc
|
296 |
366 |
5e-14 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] IGSF11 is an immunoglobulin (Ig) superfamily member that is preferentially expressed in brain and testis. It shares significant homology with coxsackievirus and adenovirus receptor (CXADR; MIM 602621) and endothelial cell-selective adhesion molecule (ESAM).[supplied by OMIM, Apr 2005]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit disrupted synaptic transmission and plasticity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
G |
A |
5: 4,051,550 (GRCm39) |
S1439N |
probably benign |
Het |
| Bcl9l |
A |
G |
9: 44,419,539 (GRCm39) |
T1069A |
possibly damaging |
Het |
| Btaf1 |
T |
G |
19: 36,988,652 (GRCm39) |
|
probably benign |
Het |
| Cdc40 |
A |
T |
10: 40,719,124 (GRCm39) |
V335E |
probably damaging |
Het |
| Cenpj |
A |
T |
14: 56,802,420 (GRCm39) |
N48K |
possibly damaging |
Het |
| Cfh |
A |
G |
1: 140,016,420 (GRCm39) |
W635R |
probably damaging |
Het |
| Clca3a1 |
A |
G |
3: 144,714,719 (GRCm39) |
S633P |
possibly damaging |
Het |
| Cnot6 |
T |
C |
11: 49,575,947 (GRCm39) |
M176V |
probably benign |
Het |
| Cryz |
G |
T |
3: 154,324,163 (GRCm39) |
E51* |
probably null |
Het |
| Dcc |
A |
G |
18: 71,589,954 (GRCm39) |
Y681H |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 50,045,792 (GRCm39) |
N2412K |
probably benign |
Het |
| Gpr137b |
C |
T |
13: 13,539,650 (GRCm39) |
W258* |
probably null |
Het |
| Hnf1b |
A |
G |
11: 83,773,526 (GRCm39) |
T242A |
probably benign |
Het |
| Hsd11b1 |
A |
T |
1: 192,905,952 (GRCm39) |
C213* |
probably null |
Het |
| Inpp5b |
T |
C |
4: 124,677,787 (GRCm39) |
Y416H |
probably damaging |
Het |
| Kcnq3 |
C |
A |
15: 65,876,575 (GRCm39) |
V523F |
probably damaging |
Het |
| Krtap9-5 |
T |
C |
11: 99,839,291 (GRCm39) |
|
probably benign |
Het |
| Lrig3 |
T |
C |
10: 125,832,984 (GRCm39) |
L286S |
probably damaging |
Het |
| Myo18b |
C |
T |
5: 113,022,873 (GRCm39) |
|
probably benign |
Het |
| Nup58 |
A |
G |
14: 60,466,365 (GRCm39) |
|
probably benign |
Het |
| Or51b6b |
T |
A |
7: 103,310,274 (GRCm39) |
Y61F |
probably damaging |
Het |
| Or5b94 |
T |
C |
19: 12,651,605 (GRCm39) |
L12P |
probably damaging |
Het |
| Or5h18 |
A |
G |
16: 58,847,994 (GRCm39) |
I92T |
possibly damaging |
Het |
| Or8k16 |
G |
A |
2: 85,520,007 (GRCm39) |
C78Y |
probably benign |
Het |
| Pyroxd2 |
T |
C |
19: 42,719,877 (GRCm39) |
D443G |
possibly damaging |
Het |
| Ttc28 |
A |
G |
5: 111,373,606 (GRCm39) |
D1014G |
probably benign |
Het |
| Tubgcp5 |
T |
A |
7: 55,456,343 (GRCm39) |
S312T |
possibly damaging |
Het |
| Uckl1 |
T |
C |
2: 181,211,410 (GRCm39) |
D473G |
probably benign |
Het |
| Vmn2r76 |
G |
T |
7: 85,877,925 (GRCm39) |
H491N |
probably benign |
Het |
| Wwc2 |
G |
A |
8: 48,299,193 (GRCm39) |
R1039W |
unknown |
Het |
| Zc3h14 |
T |
A |
12: 98,725,102 (GRCm39) |
S255T |
probably benign |
Het |
| Zfp369 |
T |
C |
13: 65,445,074 (GRCm39) |
V739A |
probably benign |
Het |
| Zfyve21 |
A |
G |
12: 111,791,368 (GRCm39) |
|
probably benign |
Het |
| Znhit6 |
A |
G |
3: 145,300,351 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Igsf11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0139:Igsf11
|
UTSW |
16 |
38,829,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0348:Igsf11
|
UTSW |
16 |
38,829,179 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1268:Igsf11
|
UTSW |
16 |
38,845,216 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4494:Igsf11
|
UTSW |
16 |
38,831,703 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4791:Igsf11
|
UTSW |
16 |
38,845,226 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5387:Igsf11
|
UTSW |
16 |
38,842,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5572:Igsf11
|
UTSW |
16 |
38,845,294 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6150:Igsf11
|
UTSW |
16 |
38,843,711 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6340:Igsf11
|
UTSW |
16 |
38,829,336 (GRCm39) |
missense |
probably benign |
|
|
R6815:Igsf11
|
UTSW |
16 |
38,829,243 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7521:Igsf11
|
UTSW |
16 |
38,829,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7533:Igsf11
|
UTSW |
16 |
38,829,236 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7732:Igsf11
|
UTSW |
16 |
38,829,160 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7838:Igsf11
|
UTSW |
16 |
38,827,565 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8305:Igsf11
|
UTSW |
16 |
38,827,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8842:Igsf11
|
UTSW |
16 |
38,829,243 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9732:Igsf11
|
UTSW |
16 |
38,843,652 (GRCm39) |
missense |
probably benign |
0.16 |
|
X0026:Igsf11
|
UTSW |
16 |
38,827,648 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
| Posted On |
2013-04-17 |
Incidental Mutation