Incidental Mutation 'R2351:Tspan12'
ID 246123
Institutional Source Beutler Lab
Gene Symbol Tspan12
Ensembl Gene ENSMUSG00000029669
Gene Name tetraspanin 12
Synonyms Tm4sf12
MMRRC Submission 040333-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R2351 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 21771394-21852514 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 21835506 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8BKT6
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: 138,779,846 (GRCm39) Y135* probably null Het
Aadacl4fm1 A T 4: 144,255,348 (GRCm39) Y256F probably damaging Het
Acad10 A T 5: 121,767,990 (GRCm39) I820K probably benign Het
Arl8b A T 6: 108,798,484 (GRCm39) I178F possibly damaging Het
Asap1 A T 15: 64,007,653 (GRCm39) probably null Het
Atp2b2 A T 6: 113,766,718 (GRCm39) I552N possibly damaging Het
C130074G19Rik G T 1: 184,615,060 (GRCm39) D43E probably benign Het
Ccdc162 C A 10: 41,431,968 (GRCm39) probably null Het
Ccdc186 T G 19: 56,787,129 (GRCm39) K613T possibly damaging Het
Cggbp1 T A 16: 64,676,046 (GRCm39) D37E possibly damaging Het
Cntn3 A T 6: 102,314,344 (GRCm39) N123K possibly damaging Het
Col18a1 C T 10: 76,948,538 (GRCm39) G325S probably benign Het
Cwc25 G T 11: 97,638,218 (GRCm39) T405K probably damaging Het
Cyp4a31 T C 4: 115,428,510 (GRCm39) V370A possibly damaging Het
Cyp4f13 T G 17: 33,144,570 (GRCm39) I309L probably benign Het
Dap3 A T 3: 88,840,870 (GRCm39) probably null Het
Dchs1 G T 7: 105,403,301 (GRCm39) D3080E probably benign Het
Ern2 A G 7: 121,770,731 (GRCm39) V762A probably damaging Het
Fgr C T 4: 132,724,548 (GRCm39) R255C probably damaging Het
Gcm2 A T 13: 41,257,094 (GRCm39) D218E probably benign Het
Gfi1 A G 5: 107,869,640 (GRCm39) S131P probably damaging Het
Grm8 A T 6: 28,126,118 (GRCm39) C3S possibly damaging Het
Gucy2d A G 7: 98,113,226 (GRCm39) D840G probably benign Het
H3f3a T C 1: 180,637,723 (GRCm39) T81A probably benign Het
Igsf23 C T 7: 19,678,723 (GRCm39) W22* probably null Het
Il12rb2 G A 6: 67,338,928 (GRCm39) Q3* probably null Het
Ino80d A T 1: 63,124,994 (GRCm39) L156H probably benign Het
Kdm2a G A 19: 4,379,154 (GRCm39) P554S probably benign Het
Lefty1 T A 1: 180,764,807 (GRCm39) L244H possibly damaging Het
Mdn1 T A 4: 32,750,010 (GRCm39) S4398T probably benign Het
Myh10 A G 11: 68,683,965 (GRCm39) D1126G probably damaging Het
Myo16 G A 8: 10,644,905 (GRCm39) D1746N possibly damaging Het
Myom1 A T 17: 71,341,574 (GRCm39) D111V probably damaging Het
Naip6 T A 13: 100,420,169 (GRCm39) D1367V probably damaging Het
Nbeal1 A T 1: 60,276,257 (GRCm39) H666L possibly damaging Het
Nsmaf T A 4: 6,437,921 (GRCm39) I77F probably damaging Het
Nvl T C 1: 180,958,357 (GRCm39) T231A probably benign Het
Obscn T C 11: 59,003,438 (GRCm39) R1287G probably damaging Het
Opn3 T C 1: 175,520,077 (GRCm39) D9G probably benign Het
Or4a81 T C 2: 89,619,522 (GRCm39) Y58C probably damaging Het
Or4c114 C T 2: 88,904,743 (GRCm39) G231S possibly damaging Het
Or6a2 A T 7: 106,600,883 (GRCm39) Y61* probably null Het
Or6c8b A G 10: 128,882,797 (GRCm39) V45A probably benign Het
Or6k2 T A 1: 173,986,486 (GRCm39) V49D probably damaging Het
Or8k24 C T 2: 86,216,471 (GRCm39) C97Y probably damaging Het
Parp10 A T 15: 76,127,056 (GRCm39) S101R probably benign Het
Pdhx T A 2: 102,854,562 (GRCm39) K399* probably null Het
Pdia4 A T 6: 47,773,848 (GRCm39) probably null Het
Pla2g4f T C 2: 120,130,923 (GRCm39) D844G probably benign Het
Prtg C A 9: 72,764,106 (GRCm39) D526E probably damaging Het
Rassf6 T C 5: 90,779,418 (GRCm39) D5G probably benign Het
Riok3 C T 18: 12,282,724 (GRCm39) Q388* probably null Het
Robo4 T A 9: 37,322,956 (GRCm39) F825L probably benign Het
Rpl13a-ps1 C T 19: 50,018,868 (GRCm39) E103K probably benign Het
Rpl18a A T 8: 71,348,864 (GRCm39) H37Q probably benign Het
Ryr1 A T 7: 28,774,718 (GRCm39) S2301T probably benign Het
Slc39a9 T A 12: 80,691,660 (GRCm39) D2E possibly damaging Het
Slco5a1 C T 1: 13,060,158 (GRCm39) V188I probably benign Het
Son T A 16: 91,454,547 (GRCm39) M1098K probably damaging Het
Spag9 A G 11: 93,983,726 (GRCm39) D701G probably damaging Het
Ssmem1 T C 6: 30,512,495 (GRCm39) F46S possibly damaging Het
Sspo C T 6: 48,441,803 (GRCm39) R1938W probably damaging Het
Sstr3 T C 15: 78,424,121 (GRCm39) I209V probably benign Het
Tlk2 A G 11: 105,100,656 (GRCm39) Y87C probably damaging Het
Traf4 G A 11: 78,051,002 (GRCm39) R385W probably damaging Het
Triobp G A 15: 78,888,780 (GRCm39) V1962M probably benign Het
Upp2 T A 2: 58,653,674 (GRCm39) probably null Het
Vps13b T C 15: 35,869,457 (GRCm39) W2654R probably damaging Het
Zc3h18 C T 8: 123,129,926 (GRCm39) R435* probably null Het
Zfta T C 19: 7,399,609 (GRCm39) I247T probably 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
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
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
Predicted Primers PCR Primer
(F):5'- TGGACTCACGACACTGCATC -3'
(R):5'- CATGTTGGGTTAGAAATGCTACC -3'

Sequencing Primer
(F):5'- CGTCACACGATGCTTTAAGTATGG -3'
(R):5'- GTTGGGTTAGAAATGCTACCACTTAC -3'
Posted On 2014-10-30