Incidental Mutation 'IGL01340:Igsf3'
ID |
74813 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Igsf3
|
Ensembl Gene |
ENSMUSG00000042035 |
Gene Name |
immunoglobulin superfamily, member 3 |
Synonyms |
1700016K10Rik, 2810035F16Rik, 4833439O17Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.250)
|
Stock # |
IGL01340
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
101284399-101370375 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 101346995 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 663
(Y663*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141823
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043983]
[ENSMUST00000195164]
|
AlphaFold |
Q6ZQA6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000043983
AA Change: Y643*
|
SMART Domains |
Protein: ENSMUSP00000048900 Gene: ENSMUSG00000042035 AA Change: Y643*
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
IG
|
27 |
142 |
7.7e-5 |
SMART |
IG
|
152 |
275 |
1.99e-7 |
SMART |
IG
|
287 |
405 |
1.79e0 |
SMART |
IG
|
417 |
539 |
6.26e-5 |
SMART |
IG
|
553 |
674 |
3.16e-1 |
SMART |
IG
|
686 |
811 |
4.89e-7 |
SMART |
IG
|
823 |
947 |
8.38e-6 |
SMART |
IG
|
959 |
1109 |
6.97e-3 |
SMART |
transmembrane domain
|
1125 |
1147 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000195164
AA Change: Y663*
|
SMART Domains |
Protein: ENSMUSP00000141823 Gene: ENSMUSG00000042035 AA Change: Y663*
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
IG
|
27 |
142 |
3.1e-7 |
SMART |
IG
|
152 |
275 |
8.2e-10 |
SMART |
IG
|
287 |
405 |
7.4e-3 |
SMART |
IG
|
437 |
559 |
2.5e-7 |
SMART |
IG
|
573 |
694 |
1.3e-3 |
SMART |
IG
|
706 |
831 |
1.9e-9 |
SMART |
IG
|
843 |
967 |
3.4e-8 |
SMART |
IG
|
979 |
1129 |
2.9e-5 |
SMART |
transmembrane domain
|
1145 |
1167 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an immunoglobulin-like membrane protein containing several V-type Ig-like domains. A mutation in this gene has been associated with bilateral nasolacrimal duct obstruction (LCDD). [provided by RefSeq, Jun 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
T |
A |
11: 110,021,453 (GRCm39) |
I1086L |
probably benign |
Het |
Adam17 |
A |
T |
12: 21,380,058 (GRCm39) |
C630* |
probably null |
Het |
Adgrg5 |
T |
C |
8: 95,664,257 (GRCm39) |
L289P |
probably damaging |
Het |
Aplp1 |
G |
A |
7: 30,143,843 (GRCm39) |
T64I |
probably damaging |
Het |
Bdh1 |
T |
A |
16: 31,275,661 (GRCm39) |
W261R |
probably damaging |
Het |
Cadm2 |
A |
T |
16: 66,581,672 (GRCm39) |
I202N |
possibly damaging |
Het |
Cd209c |
C |
T |
8: 3,995,892 (GRCm39) |
R6H |
probably benign |
Het |
Cfap221 |
T |
A |
1: 119,881,350 (GRCm39) |
I371F |
possibly damaging |
Het |
Cfap44 |
A |
G |
16: 44,224,493 (GRCm39) |
Y67C |
probably damaging |
Het |
Cilp |
T |
C |
9: 65,183,256 (GRCm39) |
S387P |
probably damaging |
Het |
Cnot1 |
T |
C |
8: 96,487,165 (GRCm39) |
D598G |
probably damaging |
Het |
Col5a1 |
T |
C |
2: 27,850,463 (GRCm39) |
L520P |
unknown |
Het |
Cpvl |
A |
T |
6: 53,873,436 (GRCm39) |
Y433* |
probably null |
Het |
Cxcl1 |
G |
T |
5: 91,039,434 (GRCm39) |
C59F |
probably damaging |
Het |
Cyth3 |
T |
A |
5: 143,670,190 (GRCm39) |
L33* |
probably null |
Het |
Dnah2 |
T |
C |
11: 69,384,010 (GRCm39) |
K1069E |
probably damaging |
Het |
Drosha |
T |
A |
15: 12,834,109 (GRCm39) |
|
probably benign |
Het |
Fam83h |
T |
A |
15: 75,875,885 (GRCm39) |
D484V |
probably damaging |
Het |
Kmt5c |
C |
T |
7: 4,745,140 (GRCm39) |
R44* |
probably null |
Het |
Kxd1 |
T |
C |
8: 70,968,093 (GRCm39) |
|
probably null |
Het |
Lars1 |
A |
G |
18: 42,335,642 (GRCm39) |
V1158A |
probably benign |
Het |
Lmf2 |
A |
G |
15: 89,237,075 (GRCm39) |
F413S |
probably damaging |
Het |
Mc4r |
C |
T |
18: 66,992,229 (GRCm39) |
A295T |
probably benign |
Het |
Mrc1 |
T |
C |
2: 14,314,895 (GRCm39) |
|
probably null |
Het |
Mtmr7 |
T |
C |
8: 41,050,465 (GRCm39) |
Y110C |
probably damaging |
Het |
Myd88 |
A |
C |
9: 119,166,418 (GRCm39) |
|
probably benign |
Het |
Ndc1 |
T |
C |
4: 107,231,344 (GRCm39) |
V95A |
probably damaging |
Het |
Ntrk1 |
T |
A |
3: 87,696,021 (GRCm39) |
E163V |
possibly damaging |
Het |
Or4p8 |
T |
C |
2: 88,727,321 (GRCm39) |
T207A |
probably damaging |
Het |
Pappa |
A |
T |
4: 65,242,109 (GRCm39) |
D1491V |
possibly damaging |
Het |
Phc3 |
T |
A |
3: 30,984,033 (GRCm39) |
I673F |
possibly damaging |
Het |
Pkhd1 |
A |
T |
1: 20,593,201 (GRCm39) |
N1637K |
probably benign |
Het |
Relb |
T |
C |
7: 19,350,298 (GRCm39) |
I218V |
probably benign |
Het |
Rgma |
T |
C |
7: 73,067,078 (GRCm39) |
F111S |
probably damaging |
Het |
Slco1a6 |
A |
T |
6: 142,055,109 (GRCm39) |
N278K |
possibly damaging |
Het |
Slfn9 |
A |
T |
11: 82,872,577 (GRCm39) |
F720I |
probably benign |
Het |
Snd1 |
T |
A |
6: 28,883,368 (GRCm39) |
V741E |
probably benign |
Het |
Snx6 |
C |
T |
12: 54,801,094 (GRCm39) |
R185Q |
probably damaging |
Het |
Spata31g1 |
A |
C |
4: 42,971,984 (GRCm39) |
E439A |
possibly damaging |
Het |
Telo2 |
G |
A |
17: 25,319,103 (GRCm39) |
|
probably benign |
Het |
Wdr91 |
A |
G |
6: 34,881,514 (GRCm39) |
S278P |
probably benign |
Het |
Xab2 |
A |
T |
8: 3,664,381 (GRCm39) |
D277E |
probably damaging |
Het |
Zbbx |
T |
C |
3: 75,012,957 (GRCm39) |
E158G |
possibly damaging |
Het |
|
Other mutations in Igsf3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00783:Igsf3
|
APN |
3 |
101,338,555 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00907:Igsf3
|
APN |
3 |
101,334,764 (GRCm39) |
splice site |
probably benign |
|
IGL01321:Igsf3
|
APN |
3 |
101,334,338 (GRCm39) |
splice site |
probably benign |
|
IGL02291:Igsf3
|
APN |
3 |
101,346,845 (GRCm39) |
missense |
probably damaging |
1.00 |
Bunsen
|
UTSW |
3 |
101,358,612 (GRCm39) |
critical splice donor site |
probably null |
|
residue
|
UTSW |
3 |
101,342,751 (GRCm39) |
missense |
probably damaging |
0.99 |
weaksister
|
UTSW |
3 |
101,358,393 (GRCm39) |
nonsense |
probably null |
|
PIT4402001:Igsf3
|
UTSW |
3 |
101,334,393 (GRCm39) |
missense |
probably benign |
0.00 |
R0090:Igsf3
|
UTSW |
3 |
101,342,968 (GRCm39) |
missense |
probably damaging |
1.00 |
R0143:Igsf3
|
UTSW |
3 |
101,342,917 (GRCm39) |
missense |
probably damaging |
1.00 |
R0418:Igsf3
|
UTSW |
3 |
101,342,751 (GRCm39) |
missense |
probably damaging |
0.99 |
R0711:Igsf3
|
UTSW |
3 |
101,334,709 (GRCm39) |
missense |
probably benign |
0.31 |
R1195:Igsf3
|
UTSW |
3 |
101,365,419 (GRCm39) |
missense |
probably benign |
0.05 |
R1195:Igsf3
|
UTSW |
3 |
101,365,419 (GRCm39) |
missense |
probably benign |
0.05 |
R1195:Igsf3
|
UTSW |
3 |
101,365,419 (GRCm39) |
missense |
probably benign |
0.05 |
R1384:Igsf3
|
UTSW |
3 |
101,358,612 (GRCm39) |
critical splice donor site |
probably null |
|
R1594:Igsf3
|
UTSW |
3 |
101,358,393 (GRCm39) |
nonsense |
probably null |
|
R1624:Igsf3
|
UTSW |
3 |
101,362,543 (GRCm39) |
missense |
probably benign |
0.37 |
R1766:Igsf3
|
UTSW |
3 |
101,338,598 (GRCm39) |
missense |
probably damaging |
1.00 |
R1988:Igsf3
|
UTSW |
3 |
101,338,612 (GRCm39) |
missense |
probably benign |
0.03 |
R2072:Igsf3
|
UTSW |
3 |
101,346,831 (GRCm39) |
missense |
probably benign |
0.02 |
R4707:Igsf3
|
UTSW |
3 |
101,365,410 (GRCm39) |
missense |
probably benign |
0.06 |
R4976:Igsf3
|
UTSW |
3 |
101,346,677 (GRCm39) |
splice site |
probably null |
|
R4982:Igsf3
|
UTSW |
3 |
101,342,983 (GRCm39) |
missense |
probably benign |
0.42 |
R5008:Igsf3
|
UTSW |
3 |
101,358,233 (GRCm39) |
missense |
probably damaging |
0.97 |
R5119:Igsf3
|
UTSW |
3 |
101,346,677 (GRCm39) |
splice site |
probably null |
|
R5189:Igsf3
|
UTSW |
3 |
101,338,843 (GRCm39) |
missense |
possibly damaging |
0.64 |
R5456:Igsf3
|
UTSW |
3 |
101,334,537 (GRCm39) |
missense |
probably benign |
0.20 |
R5776:Igsf3
|
UTSW |
3 |
101,332,796 (GRCm39) |
missense |
probably benign |
0.01 |
R6112:Igsf3
|
UTSW |
3 |
101,358,322 (GRCm39) |
missense |
probably damaging |
1.00 |
R6383:Igsf3
|
UTSW |
3 |
101,342,964 (GRCm39) |
missense |
probably benign |
0.05 |
R6758:Igsf3
|
UTSW |
3 |
101,332,814 (GRCm39) |
missense |
probably damaging |
0.98 |
R7085:Igsf3
|
UTSW |
3 |
101,362,805 (GRCm39) |
missense |
probably benign |
0.12 |
R7310:Igsf3
|
UTSW |
3 |
101,338,895 (GRCm39) |
missense |
probably benign |
0.01 |
R7470:Igsf3
|
UTSW |
3 |
101,358,391 (GRCm39) |
missense |
possibly damaging |
0.67 |
R7707:Igsf3
|
UTSW |
3 |
101,367,238 (GRCm39) |
missense |
probably benign |
0.00 |
R7719:Igsf3
|
UTSW |
3 |
101,342,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R7739:Igsf3
|
UTSW |
3 |
101,342,847 (GRCm39) |
missense |
probably damaging |
1.00 |
R8115:Igsf3
|
UTSW |
3 |
101,362,595 (GRCm39) |
missense |
probably benign |
0.01 |
R8128:Igsf3
|
UTSW |
3 |
101,346,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R8221:Igsf3
|
UTSW |
3 |
101,347,038 (GRCm39) |
missense |
probably damaging |
1.00 |
R8716:Igsf3
|
UTSW |
3 |
101,334,739 (GRCm39) |
missense |
probably damaging |
1.00 |
R8730:Igsf3
|
UTSW |
3 |
101,334,532 (GRCm39) |
missense |
probably benign |
0.00 |
R9401:Igsf3
|
UTSW |
3 |
101,333,075 (GRCm39) |
missense |
probably damaging |
1.00 |
R9449:Igsf3
|
UTSW |
3 |
101,358,322 (GRCm39) |
missense |
probably damaging |
1.00 |
R9483:Igsf3
|
UTSW |
3 |
101,346,904 (GRCm39) |
missense |
probably damaging |
1.00 |
R9483:Igsf3
|
UTSW |
3 |
101,346,817 (GRCm39) |
missense |
probably damaging |
0.98 |
R9575:Igsf3
|
UTSW |
3 |
101,338,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R9782:Igsf3
|
UTSW |
3 |
101,338,612 (GRCm39) |
missense |
probably benign |
0.03 |
X0027:Igsf3
|
UTSW |
3 |
101,342,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-10-07 |