Incidental Mutation 'IGL00843:Tspan12'
| ID |
27569 |
| 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 # |
IGL00843
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
21771394-21852514 bp(-) (GRCm39) |
| Type of Mutation |
utr 5 prime |
| DNA Base Change (assembly) |
T to A
at 21851081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144671
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031678]
[ENSMUST00000120965]
[ENSMUST00000123116]
[ENSMUST00000134635]
[ENSMUST00000143531]
[ENSMUST00000202353]
|
| AlphaFold |
Q8BKT6 |
| Predicted Effect |
probably benign
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 benign
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 benign
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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143531
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200819
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202353
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202675
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bglap |
A |
G |
3: 88,291,657 (GRCm39) |
|
probably null |
Het |
| Bpnt2 |
T |
C |
4: 4,776,308 (GRCm39) |
|
probably benign |
Het |
| Clcn2 |
T |
C |
16: 20,522,391 (GRCm39) |
T772A |
probably benign |
Het |
| Cldn18 |
A |
T |
9: 99,580,874 (GRCm39) |
F125I |
probably benign |
Het |
| Ehhadh |
A |
G |
16: 21,581,379 (GRCm39) |
S538P |
possibly damaging |
Het |
| Ets2 |
T |
G |
16: 95,510,837 (GRCm39) |
F32V |
probably benign |
Het |
| F5 |
G |
A |
1: 164,039,360 (GRCm39) |
R1990Q |
probably benign |
Het |
| Fetub |
A |
G |
16: 22,748,379 (GRCm39) |
|
probably benign |
Het |
| Hecw1 |
C |
T |
13: 14,422,158 (GRCm39) |
E983K |
probably benign |
Het |
| Hemgn |
A |
G |
4: 46,396,240 (GRCm39) |
M332T |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,486,464 (GRCm39) |
I4314T |
possibly damaging |
Het |
| Lonrf2 |
C |
A |
1: 38,851,616 (GRCm39) |
|
probably benign |
Het |
| Lrrc9 |
T |
C |
12: 72,510,191 (GRCm39) |
I430T |
possibly damaging |
Het |
| Lrrk2 |
T |
C |
15: 91,641,261 (GRCm39) |
V1606A |
possibly damaging |
Het |
| Oog2 |
G |
T |
4: 143,921,742 (GRCm39) |
L217F |
probably damaging |
Het |
| Plxnc1 |
T |
C |
10: 94,683,411 (GRCm39) |
H791R |
probably benign |
Het |
| Prdm2 |
G |
A |
4: 142,860,884 (GRCm39) |
S802L |
probably damaging |
Het |
| Prss32 |
T |
A |
17: 24,076,336 (GRCm39) |
L233Q |
probably damaging |
Het |
| Rapgef6 |
T |
A |
11: 54,582,099 (GRCm39) |
V1337E |
probably benign |
Het |
| Slc15a3 |
T |
A |
19: 10,830,627 (GRCm39) |
M326K |
probably null |
Het |
| Slc25a54 |
A |
T |
3: 109,020,176 (GRCm39) |
T397S |
possibly damaging |
Het |
| Slfn3 |
C |
T |
11: 83,104,257 (GRCm39) |
T376M |
probably damaging |
Het |
| Stradb |
T |
A |
1: 59,033,568 (GRCm39) |
D410E |
probably benign |
Het |
| Tdh |
T |
C |
14: 63,733,213 (GRCm39) |
T178A |
probably damaging |
Het |
| Ube2b |
A |
T |
11: 51,886,202 (GRCm39) |
D50E |
probably benign |
Het |
| Zranb1 |
A |
C |
7: 132,551,622 (GRCm39) |
H117P |
probably benign |
Het |
|
| Other mutations in Tspan12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02601:Tspan12
|
APN |
6 |
21,835,378 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02992:Tspan12
|
APN |
6 |
21,799,876 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
2013-04-17 |
Incidental Mutation