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) question?
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

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
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
AlleleSourceChrCoordTypePredicted EffectPPH 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