Incidental Mutation 'IGL02992:Tspan12'
ID407005
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tspan12
Ensembl Gene ENSMUSG00000029669
Gene Nametetraspanin 12
SynonymsTm4sf12
Accession Numbers

Genbank: NM_173007; MGI: 1889818

Is this an essential gene? Probably non essential (E-score: 0.198) question?
Stock #IGL02992
Quality Score
Status
Chromosome6
Chromosomal Location21771395-21852515 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 21799877 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117820 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031678] [ENSMUST00000031678] [ENSMUST00000120965] [ENSMUST00000120965] [ENSMUST00000123116] [ENSMUST00000123116] [ENSMUST00000134635]
Predicted Effect probably null
Transcript: ENSMUST00000031678
SMART Domains Protein: ENSMUSP00000031678
Gene: ENSMUSG00000029669

DomainStartEndE-ValueType
Pfam:Tetraspannin 9 248 1.1e-42 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000031678
SMART Domains Protein: ENSMUSP00000031678
Gene: ENSMUSG00000029669

DomainStartEndE-ValueType
Pfam:Tetraspannin 9 248 1.1e-42 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000120965
SMART Domains Protein: ENSMUSP00000113384
Gene: ENSMUSG00000029669

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Tetraspannin 9 203 4.1e-33 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000123116
SMART Domains Protein: ENSMUSP00000117820
Gene: ENSMUSG00000029669

DomainStartEndE-ValueType
Pfam:Tetraspannin 9 203 4.1e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134635
SMART Domains Protein: ENSMUSP00000123475
Gene: ENSMUSG00000029669

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310035C23Rik T A 1: 105,719,464 L684M possibly damaging Het
Abca4 A G 3: 122,128,286 K1164E probably damaging Het
Arhgap42 G A 9: 8,998,248 probably benign Het
Arhgef12 T C 9: 42,999,077 D612G probably damaging Het
Cpne3 T C 4: 19,532,486 D309G probably benign Het
Daw1 T C 1: 83,197,213 probably benign Het
Daxx T A 17: 33,911,748 C246S probably damaging Het
Dpp7 T C 2: 25,354,577 D264G possibly damaging Het
Dync2h1 T A 9: 7,137,074 H1472L probably benign Het
Fastkd2 T C 1: 63,737,924 probably benign Het
Fcrls T G 3: 87,259,466 R73S probably damaging Het
Gatb A G 3: 85,618,916 D367G probably damaging Het
Gm20547 T A 17: 34,857,119 E654V probably damaging Het
Gm839 T A 6: 89,212,527 noncoding transcript Het
Gtf2ird2 A T 5: 134,217,614 M905L possibly damaging Het
Hoxb2 A T 11: 96,353,084 I174F probably damaging Het
Hrh3 A G 2: 180,100,815 V308A probably benign Het
Ints9 A G 14: 64,980,164 K47E probably benign Het
Irak3 A T 10: 120,182,661 Y61N probably damaging Het
Itpr1 A G 6: 108,381,315 E614G probably damaging Het
Lgals3 A T 14: 47,385,525 I214L probably benign Het
Msh4 G T 3: 153,872,325 T444K possibly damaging Het
Myh7b C A 2: 155,621,410 Q521K probably damaging Het
Naip5 T A 13: 100,223,028 I567F probably damaging Het
Nf1 A G 11: 79,434,933 probably benign Het
Nlrc3 C T 16: 3,954,023 probably benign Het
Nlrc5 A C 8: 94,506,573 E1353A possibly damaging Het
Nr1h3 T A 2: 91,190,566 I260F probably damaging Het
Pcnx G A 12: 81,964,120 R1211Q probably damaging Het
Pde10a A G 17: 8,949,461 K605E probably damaging Het
Pdzd2 T C 15: 12,382,622 E1215G possibly damaging Het
Pex12 A G 11: 83,297,927 S81P probably damaging Het
Pik3c2b C A 1: 133,066,980 Y227* probably null Het
Ppef2 C T 5: 92,235,900 W450* probably null Het
Prkg2 T G 5: 99,024,506 S117R probably benign Het
Prl3d2 A T 13: 27,127,283 E179D probably benign Het
Rxfp2 T C 5: 150,051,556 V210A probably benign Het
Scn10a T C 9: 119,609,560 T1748A possibly damaging Het
Sept10 T C 10: 59,192,178 N107S possibly damaging Het
Smu1 T A 4: 40,739,550 N420I probably damaging Het
Sos1 A G 17: 80,419,016 F835L probably benign Het
Spg11 T C 2: 122,058,398 D2164G probably damaging Het
Svbp A G 4: 119,195,930 E8G probably damaging Het
Tgm3 T A 2: 130,041,979 M519K probably damaging Het
Vps52 T C 17: 33,958,350 V122A probably damaging Het
Wipf1 T C 2: 73,434,083 Y458C probably damaging Het
Zfp369 T A 13: 65,294,451 D286E possibly damaging Het
Other mutations in Tspan12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00843:Tspan12 APN 6 21851082 utr 5 prime probably benign
IGL02601:Tspan12 APN 6 21835379 unclassified probably benign
PIT4362001:Tspan12 UTSW 6 21835464 missense possibly damaging 0.87
R1800:Tspan12 UTSW 6 21795700 missense probably damaging 1.00
R1862:Tspan12 UTSW 6 21851023 missense probably damaging 1.00
R1898:Tspan12 UTSW 6 21795694 missense probably damaging 0.97
R2101:Tspan12 UTSW 6 21799888 missense probably benign 0.00
R2351:Tspan12 UTSW 6 21835507 missense probably benign
R4820:Tspan12 UTSW 6 21795661 missense probably damaging 0.99
R4921:Tspan12 UTSW 6 21835449 missense possibly damaging 0.66
R5284:Tspan12 UTSW 6 21835467 missense probably damaging 0.97
R5341:Tspan12 UTSW 6 21835459 missense possibly damaging 0.69
R5372:Tspan12 UTSW 6 21772699 missense probably benign 0.06
R5929:Tspan12 UTSW 6 21772747 missense possibly damaging 0.92
R6052:Tspan12 UTSW 6 21772638 missense probably benign 0.09
R6108:Tspan12 UTSW 6 21772771 missense probably benign
R6207:Tspan12 UTSW 6 21799908 missense probably damaging 1.00
R6248:Tspan12 UTSW 6 21799971 missense probably damaging 1.00
R7014:Tspan12 UTSW 6 21772919 missense probably benign 0.01
R7457:Tspan12 UTSW 6 21772683 missense probably benign 0.09
ZE80:Tspan12 UTSW 6 21795609 missense probably benign 0.14
Posted On2016-08-02