Incidental Mutation 'R2351:Tspan12'
ID246123
Institutional Source Beutler Lab
Gene Symbol Tspan12
Ensembl Gene ENSMUSG00000029669
Gene Nametetraspanin 12
SynonymsTm4sf12
MMRRC Submission 040333-MU
Accession Numbers

Genbank: NM_173007; MGI: 1889818

Is this an essential gene? Possibly non essential (E-score: 0.271) question?
Stock #R2351 (G1)
Quality Score225
Status Not validated
Chromosome6
Chromosomal Location21771395-21852515 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 21835507 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 56 (I56L)
Ref Sequence ENSEMBL: ENSMUSP00000123475 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031678] [ENSMUST00000120965] [ENSMUST00000123116] [ENSMUST00000134635] [ENSMUST00000143531]
Predicted Effect probably benign
Transcript: ENSMUST00000031678
AA Change: I56L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031678
Gene: ENSMUSG00000029669
AA Change: I56L

DomainStartEndE-ValueType
Pfam:Tetraspannin 9 248 1.1e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120965
AA Change: I56L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113384
Gene: ENSMUSG00000029669
AA Change: I56L

DomainStartEndE-ValueType
Pfam:Tetraspannin 9 156 4.1e-23 PFAM
transmembrane domain 180 202 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123116
AA Change: I56L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000117820
Gene: ENSMUSG00000029669
AA Change: I56L

DomainStartEndE-ValueType
Pfam:Tetraspannin 9 203 4.1e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134635
AA Change: I56L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123475
Gene: ENSMUSG00000029669
AA Change: I56L

DomainStartEndE-ValueType
Pfam:Tetraspannin 9 129 1.8e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143531
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.2%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310009B15Rik A T 1: 138,852,108 Y135* probably null Het
2700081O15Rik T C 19: 7,422,244 I247T probably damaging Het
9430007A20Rik A T 4: 144,528,778 Y256F probably damaging Het
Acad10 A T 5: 121,629,927 I820K probably benign Het
Arl8b A T 6: 108,821,523 I178F possibly damaging Het
Asap1 A T 15: 64,135,804 probably null Het
Atp2b2 A T 6: 113,789,757 I552N possibly damaging Het
C130074G19Rik G T 1: 184,882,863 D43E probably benign Het
Ccdc162 C A 10: 41,555,972 probably null Het
Ccdc186 T G 19: 56,798,697 K613T possibly damaging Het
Cggbp1 T A 16: 64,855,683 D37E possibly damaging Het
Cntn3 A T 6: 102,337,383 N123K possibly damaging Het
Col18a1 C T 10: 77,112,704 G325S probably benign Het
Cwc25 G T 11: 97,747,392 T405K probably damaging Het
Cyp4a31 T C 4: 115,571,313 V370A possibly damaging Het
Cyp4f13 T G 17: 32,925,596 I309L probably benign Het
Dap3 A T 3: 88,933,563 probably null Het
Dchs1 G T 7: 105,754,094 D3080E probably benign Het
Ern2 A G 7: 122,171,508 V762A probably damaging Het
Fgr C T 4: 132,997,237 R255C probably damaging Het
Gcm2 A T 13: 41,103,618 D218E probably benign Het
Gfi1 A G 5: 107,721,774 S131P probably damaging Het
Grm8 A T 6: 28,126,119 C3S possibly damaging Het
Gucy2d A G 7: 98,464,019 D840G probably benign Het
H3f3a T C 1: 180,810,158 T81A probably benign Het
Igsf23 C T 7: 19,944,798 W22* probably null Het
Il12rb2 G A 6: 67,361,944 Q3* probably null Het
Ino80d A T 1: 63,085,835 L156H probably benign Het
Kdm2a G A 19: 4,329,126 P554S probably benign Het
Lefty1 T A 1: 180,937,242 L244H possibly damaging Het
Mdn1 T A 4: 32,750,010 S4398T probably benign Het
Myh10 A G 11: 68,793,139 D1126G probably damaging Het
Myo16 G A 8: 10,594,905 D1746N possibly damaging Het
Myom1 A T 17: 71,034,579 D111V probably damaging Het
Naip6 T A 13: 100,283,661 D1367V probably damaging Het
Nbeal1 A T 1: 60,237,098 H666L possibly damaging Het
Nsmaf T A 4: 6,437,921 I77F probably damaging Het
Nvl T C 1: 181,130,792 T231A probably benign Het
Obscn T C 11: 59,112,612 R1287G probably damaging Het
Olfr1058 C T 2: 86,386,127 C97Y probably damaging Het
Olfr1219 C T 2: 89,074,399 G231S possibly damaging Het
Olfr1254 T C 2: 89,789,178 Y58C probably damaging Het
Olfr2 A T 7: 107,001,676 Y61* probably null Het
Olfr420 T A 1: 174,158,920 V49D probably damaging Het
Olfr765 A G 10: 129,046,928 V45A probably benign Het
Opn3 T C 1: 175,692,511 D9G probably benign Het
Parp10 A T 15: 76,242,856 S101R probably benign Het
Pdhx T A 2: 103,024,217 K399* probably null Het
Pdia4 A T 6: 47,796,914 probably null Het
Pla2g4f T C 2: 120,300,442 D844G probably benign Het
Prtg C A 9: 72,856,824 D526E probably damaging Het
Rassf6 T C 5: 90,631,559 D5G probably benign Het
Riok3 C T 18: 12,149,667 Q388* probably null Het
Robo4 T A 9: 37,411,660 F825L probably benign Het
Rpl13a-ps1 C T 19: 50,030,429 E103K probably benign Het
Rpl18a A T 8: 70,896,220 H37Q probably benign Het
Ryr1 A T 7: 29,075,293 S2301T probably benign Het
Slc39a9 T A 12: 80,644,886 D2E possibly damaging Het
Slco5a1 C T 1: 12,989,934 V188I probably benign Het
Son T A 16: 91,657,659 M1098K probably damaging Het
Spag9 A G 11: 94,092,900 D701G probably damaging Het
Ssmem1 T C 6: 30,512,496 F46S possibly damaging Het
Sspo C T 6: 48,464,869 R1938W probably damaging Het
Sstr3 T C 15: 78,539,921 I209V probably benign Het
Tlk2 A G 11: 105,209,830 Y87C probably damaging Het
Traf4 G A 11: 78,160,176 R385W probably damaging Het
Triobp G A 15: 79,004,580 V1962M probably benign Het
Upp2 T A 2: 58,763,662 probably null Het
Vps13b T C 15: 35,869,311 W2654R probably damaging Het
Zc3h18 C T 8: 122,403,187 R435* probably null 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
IGL02992:Tspan12 APN 6 21799877 critical splice donor site probably null
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
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
ZE80:Tspan12 UTSW 6 21795609 missense probably benign 0.14
Predicted Primers PCR Primer
(F):5'- TGGACTCACGACACTGCATC -3'
(R):5'- CATGTTGGGTTAGAAATGCTACC -3'

Sequencing Primer
(F):5'- CGTCACACGATGCTTTAAGTATGG -3'
(R):5'- GTTGGGTTAGAAATGCTACCACTTAC -3'
Posted On2014-10-30