Incidental Mutation 'IGL02992:Tspan12'
ID |
407005 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tspan12
|
Ensembl Gene |
ENSMUSG00000029669 |
Gene Name |
tetraspanin 12 |
Synonyms |
Tm4sf12 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
IGL02992
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
21771394-21852514 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 21799876 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117820
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031678]
[ENSMUST00000031678]
[ENSMUST00000120965]
[ENSMUST00000120965]
[ENSMUST00000123116]
[ENSMUST00000123116]
[ENSMUST00000134635]
|
AlphaFold |
Q8BKT6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000031678
|
SMART Domains |
Protein: ENSMUSP00000031678 Gene: ENSMUSG00000029669
Domain | Start | End | E-Value | Type |
Pfam:Tetraspannin
|
9 |
248 |
1.1e-42 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000031678
|
SMART Domains |
Protein: ENSMUSP00000031678 Gene: ENSMUSG00000029669
Domain | Start | End | E-Value | Type |
Pfam:Tetraspannin
|
9 |
248 |
1.1e-42 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000120965
|
SMART Domains |
Protein: ENSMUSP00000113384 Gene: ENSMUSG00000029669
Domain | Start | End | E-Value | Type |
Pfam:Tetraspannin
|
9 |
156 |
4.1e-23 |
PFAM |
transmembrane domain
|
180 |
202 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000120965
|
SMART Domains |
Protein: ENSMUSP00000113384 Gene: ENSMUSG00000029669
Domain | Start | End | E-Value | Type |
Pfam:Tetraspannin
|
9 |
156 |
4.1e-23 |
PFAM |
transmembrane domain
|
180 |
202 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000123116
|
SMART Domains |
Protein: ENSMUSP00000117820 Gene: ENSMUSG00000029669
Domain | Start | End | E-Value | Type |
Pfam:Tetraspannin
|
9 |
203 |
4.1e-33 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000123116
|
SMART Domains |
Protein: ENSMUSP00000117820 Gene: ENSMUSG00000029669
Domain | Start | End | E-Value | Type |
Pfam:Tetraspannin
|
9 |
203 |
4.1e-33 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134635
|
SMART Domains |
Protein: ENSMUSP00000123475 Gene: ENSMUSG00000029669
Domain | Start | End | E-Value | Type |
Pfam:Tetraspannin
|
9 |
129 |
1.8e-20 |
PFAM |
|
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 a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal retinal vasculature with pericapillary occlusions, lack of vertical sprouts, gliosis, fenestration, microanurysms, hemorrhage, and delayed regression of hyaloid capillaries. [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 |
Abca4 |
A |
G |
3: 121,921,935 (GRCm39) |
K1164E |
probably damaging |
Het |
Arhgap42 |
G |
A |
9: 8,998,249 (GRCm39) |
|
probably benign |
Het |
Arhgef12 |
T |
C |
9: 42,910,373 (GRCm39) |
D612G |
probably damaging |
Het |
Cpne3 |
T |
C |
4: 19,532,486 (GRCm39) |
D309G |
probably benign |
Het |
Daw1 |
T |
C |
1: 83,174,934 (GRCm39) |
|
probably benign |
Het |
Daxx |
T |
A |
17: 34,130,722 (GRCm39) |
C246S |
probably damaging |
Het |
Dpp7 |
T |
C |
2: 25,244,589 (GRCm39) |
D264G |
possibly damaging |
Het |
Dync2h1 |
T |
A |
9: 7,137,074 (GRCm39) |
H1472L |
probably benign |
Het |
Fastkd2 |
T |
C |
1: 63,777,083 (GRCm39) |
|
probably benign |
Het |
Fcrl2 |
T |
G |
3: 87,166,773 (GRCm39) |
R73S |
probably damaging |
Het |
Gatb |
A |
G |
3: 85,526,223 (GRCm39) |
D367G |
probably damaging |
Het |
Gm20547 |
T |
A |
17: 35,076,095 (GRCm39) |
E654V |
probably damaging |
Het |
Gm839 |
T |
A |
6: 89,189,509 (GRCm39) |
|
noncoding transcript |
Het |
Gtf2ird2 |
A |
T |
5: 134,246,456 (GRCm39) |
M905L |
possibly damaging |
Het |
Hoxb2 |
A |
T |
11: 96,243,910 (GRCm39) |
I174F |
probably damaging |
Het |
Hrh3 |
A |
G |
2: 179,742,608 (GRCm39) |
V308A |
probably benign |
Het |
Ints9 |
A |
G |
14: 65,217,613 (GRCm39) |
K47E |
probably benign |
Het |
Irak3 |
A |
T |
10: 120,018,566 (GRCm39) |
Y61N |
probably damaging |
Het |
Itpr1 |
A |
G |
6: 108,358,276 (GRCm39) |
E614G |
probably damaging |
Het |
Lgals3 |
A |
T |
14: 47,622,982 (GRCm39) |
I214L |
probably benign |
Het |
Msh4 |
G |
T |
3: 153,577,962 (GRCm39) |
T444K |
possibly damaging |
Het |
Myh7b |
C |
A |
2: 155,463,330 (GRCm39) |
Q521K |
probably damaging |
Het |
Naip5 |
T |
A |
13: 100,359,536 (GRCm39) |
I567F |
probably damaging |
Het |
Nf1 |
A |
G |
11: 79,325,759 (GRCm39) |
|
probably benign |
Het |
Nlrc3 |
C |
T |
16: 3,771,887 (GRCm39) |
|
probably benign |
Het |
Nlrc5 |
A |
C |
8: 95,233,201 (GRCm39) |
E1353A |
possibly damaging |
Het |
Nr1h3 |
T |
A |
2: 91,020,911 (GRCm39) |
I260F |
probably damaging |
Het |
Pcnx1 |
G |
A |
12: 82,010,894 (GRCm39) |
R1211Q |
probably damaging |
Het |
Pde10a |
A |
G |
17: 9,168,293 (GRCm39) |
K605E |
probably damaging |
Het |
Pdzd2 |
T |
C |
15: 12,382,708 (GRCm39) |
E1215G |
possibly damaging |
Het |
Pex12 |
A |
G |
11: 83,188,753 (GRCm39) |
S81P |
probably damaging |
Het |
Pik3c2b |
C |
A |
1: 132,994,718 (GRCm39) |
Y227* |
probably null |
Het |
Ppef2 |
C |
T |
5: 92,383,759 (GRCm39) |
W450* |
probably null |
Het |
Prkg2 |
T |
G |
5: 99,172,365 (GRCm39) |
S117R |
probably benign |
Het |
Prl3d2 |
A |
T |
13: 27,311,266 (GRCm39) |
E179D |
probably benign |
Het |
Relch |
T |
A |
1: 105,647,189 (GRCm39) |
L684M |
possibly damaging |
Het |
Rxfp2 |
T |
C |
5: 149,975,021 (GRCm39) |
V210A |
probably benign |
Het |
Scn10a |
T |
C |
9: 119,438,626 (GRCm39) |
T1748A |
possibly damaging |
Het |
Septin10 |
T |
C |
10: 59,028,000 (GRCm39) |
N107S |
possibly damaging |
Het |
Smu1 |
T |
A |
4: 40,739,550 (GRCm39) |
N420I |
probably damaging |
Het |
Sos1 |
A |
G |
17: 80,726,445 (GRCm39) |
F835L |
probably benign |
Het |
Spg11 |
T |
C |
2: 121,888,879 (GRCm39) |
D2164G |
probably damaging |
Het |
Svbp |
A |
G |
4: 119,053,127 (GRCm39) |
E8G |
probably damaging |
Het |
Tgm3 |
T |
A |
2: 129,883,899 (GRCm39) |
M519K |
probably damaging |
Het |
Vps52 |
T |
C |
17: 34,177,324 (GRCm39) |
V122A |
probably damaging |
Het |
Wipf1 |
T |
C |
2: 73,264,427 (GRCm39) |
Y458C |
probably damaging |
Het |
Zfp369 |
T |
A |
13: 65,442,265 (GRCm39) |
D286E |
possibly damaging |
Het |
|
Other mutations in Tspan12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00843:Tspan12
|
APN |
6 |
21,851,081 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL02601:Tspan12
|
APN |
6 |
21,835,378 (GRCm39) |
unclassified |
probably benign |
|
PIT4362001:Tspan12
|
UTSW |
6 |
21,835,463 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1800:Tspan12
|
UTSW |
6 |
21,795,699 (GRCm39) |
missense |
probably damaging |
1.00 |
R1862:Tspan12
|
UTSW |
6 |
21,851,022 (GRCm39) |
missense |
probably damaging |
1.00 |
R1898:Tspan12
|
UTSW |
6 |
21,795,693 (GRCm39) |
missense |
probably damaging |
0.97 |
R2101:Tspan12
|
UTSW |
6 |
21,799,887 (GRCm39) |
missense |
probably benign |
0.00 |
R2351:Tspan12
|
UTSW |
6 |
21,835,506 (GRCm39) |
missense |
probably benign |
|
R4820:Tspan12
|
UTSW |
6 |
21,795,660 (GRCm39) |
missense |
probably damaging |
0.99 |
R4921:Tspan12
|
UTSW |
6 |
21,835,448 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5284:Tspan12
|
UTSW |
6 |
21,835,466 (GRCm39) |
missense |
probably damaging |
0.97 |
R5341:Tspan12
|
UTSW |
6 |
21,835,458 (GRCm39) |
missense |
possibly damaging |
0.69 |
R5372:Tspan12
|
UTSW |
6 |
21,772,698 (GRCm39) |
missense |
probably benign |
0.06 |
R5929:Tspan12
|
UTSW |
6 |
21,772,746 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6052:Tspan12
|
UTSW |
6 |
21,772,637 (GRCm39) |
missense |
probably benign |
0.09 |
R6108:Tspan12
|
UTSW |
6 |
21,772,770 (GRCm39) |
missense |
probably benign |
|
R6207:Tspan12
|
UTSW |
6 |
21,799,907 (GRCm39) |
missense |
probably damaging |
1.00 |
R6248:Tspan12
|
UTSW |
6 |
21,799,970 (GRCm39) |
missense |
probably damaging |
1.00 |
R7014:Tspan12
|
UTSW |
6 |
21,772,918 (GRCm39) |
missense |
probably benign |
0.01 |
R7457:Tspan12
|
UTSW |
6 |
21,772,682 (GRCm39) |
missense |
probably benign |
0.09 |
R7776:Tspan12
|
UTSW |
6 |
21,836,442 (GRCm39) |
missense |
probably damaging |
1.00 |
ZE80:Tspan12
|
UTSW |
6 |
21,795,608 (GRCm39) |
missense |
probably benign |
0.14 |
|
Posted On |
2016-08-02 |