Incidental Mutation 'R0145:Tm6sf2'
ID60805
Institutional Source Beutler Lab
Gene Symbol Tm6sf2
Ensembl Gene ENSMUSG00000036151
Gene Nametransmembrane 6 superfamily member 2
Synonyms
MMRRC Submission 038430-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.137) question?
Stock #R0145 (G1) of strain 722
Quality Score156
Status Validated
Chromosome8
Chromosomal Location70072924-70080066 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 70077868 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049197] [ENSMUST00000110160]
Predicted Effect probably benign
Transcript: ENSMUST00000049197
SMART Domains Protein: ENSMUSP00000046114
Gene: ENSMUSG00000036151

DomainStartEndE-ValueType
transmembrane domain 29 51 N/A INTRINSIC
transmembrane domain 64 84 N/A INTRINSIC
transmembrane domain 104 126 N/A INTRINSIC
transmembrane domain 139 161 N/A INTRINSIC
transmembrane domain 171 190 N/A INTRINSIC
Pfam:DUF2781 216 357 4e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110160
SMART Domains Protein: ENSMUSP00000105788
Gene: ENSMUSG00000036151

DomainStartEndE-ValueType
transmembrane domain 29 51 N/A INTRINSIC
transmembrane domain 64 84 N/A INTRINSIC
transmembrane domain 104 126 N/A INTRINSIC
transmembrane domain 139 161 N/A INTRINSIC
transmembrane domain 171 190 N/A INTRINSIC
Pfam:DUF2781 218 357 1.3e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124742
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148015
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149928
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 93.7%
  • 20x: 82.1%
Validation Efficiency 96% (109/113)
MGI Phenotype PHENOTYPE: Homozygotes for a null allele show hepatosteatosis, hypocholesterolemia, increased serum alanine transaminase level, reduced VLDL-TG secretion, small VLDL particles, and lipid accumulation in enterocytes. Homozygotes for another null allele show reduced total cholesterol and LDL cholesterol levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik A G 10: 100,601,921 E64G probably damaging Het
1810043G02Rik T C 10: 77,983,556 S196P probably benign Het
4931408C20Rik A G 1: 26,687,332 M32T probably benign Het
Actr6 A T 10: 89,728,178 Y77* probably null Het
Aldoart1 A T 4: 72,851,339 S411T probably benign Het
Aqp1 C T 6: 55,346,687 R234C probably damaging Het
Arsb G A 13: 93,862,287 G368R possibly damaging Het
Asxl3 G A 18: 22,453,605 A151T probably damaging Het
Bcas3 T C 11: 85,359,610 probably benign Het
Bmpr2 AACACA AACA 1: 59,867,580 probably null Het
Bst1 A G 5: 43,819,072 Y49C probably damaging Het
Btrc T A 19: 45,423,173 L12Q probably damaging Het
Cd248 T C 19: 5,069,023 F300L possibly damaging Het
Cdk11b G T 4: 155,641,619 probably benign Het
Cfap44 A T 16: 44,468,372 D1495V probably damaging Het
Chil3 T A 3: 106,160,478 I124F probably damaging Het
Cnot2 A T 10: 116,517,368 S63T possibly damaging Het
Cox8a G T 19: 7,215,418 H61N probably benign Het
Cpne9 T C 6: 113,300,601 V427A probably damaging Het
Ctsll3 C A 13: 60,798,595 G301C probably damaging Het
Cubn T A 2: 13,306,432 D3094V probably damaging Het
Cyba A T 8: 122,427,238 M65K possibly damaging Het
Cyp4f39 T A 17: 32,486,960 S342T possibly damaging Het
Daam2 T C 17: 49,480,778 I436V probably benign Het
Daglb T C 5: 143,474,608 probably benign Het
Dnah7b T G 1: 46,223,178 L2067R probably damaging Het
Ep300 T C 15: 81,616,127 probably null Het
Esm1 A G 13: 113,216,696 N171D probably damaging Het
Fbxl2 T C 9: 113,985,325 E266G probably damaging Het
Ficd G T 5: 113,738,819 A352S probably damaging Het
H2-Q2 A G 17: 35,345,176 D302G probably benign Het
Hacd3 A T 9: 65,004,242 probably benign Het
Kbtbd6 T A 14: 79,453,024 N386K probably benign Het
Lct T C 1: 128,327,895 M137V probably benign Het
Lilr4b T G 10: 51,484,518 N176K probably benign Het
Macf1 T A 4: 123,387,397 H4340L probably damaging Het
Mcidas A G 13: 112,994,372 D77G probably damaging Het
Mmrn1 C A 6: 60,973,010 Q315K probably damaging Het
Mon2 C A 10: 123,013,512 L1294F possibly damaging Het
Muc5ac A G 7: 141,795,275 T483A possibly damaging Het
Nacc1 T C 8: 84,674,875 probably benign Het
Nanos3 C T 8: 84,176,134 R133Q probably damaging Het
Ngef A G 1: 87,540,648 probably benign Het
Nol8 C T 13: 49,662,447 A677V possibly damaging Het
Ogfod3 A T 11: 121,195,070 probably benign Het
Olfr1104 A C 2: 87,021,790 Y251* probably null Het
Olfr767 A T 10: 129,079,363 V200E probably damaging Het
Parpbp T C 10: 88,093,009 Y523C possibly damaging Het
Pik3cg C A 12: 32,204,322 L555F probably benign Het
Pkp3 T G 7: 141,089,763 probably null Het
Pole G T 5: 110,324,425 R1518L probably damaging Het
Prkab1 T C 5: 116,018,085 probably benign Het
Prrc2a T C 17: 35,155,820 T1285A probably benign Het
Pus1 C A 5: 110,774,854 V222L probably benign Het
Rab11fip1 A G 8: 27,143,324 L1118P probably damaging Het
Ranbp2 T A 10: 58,480,046 I2196N probably damaging Het
Rims3 T C 4: 120,887,026 L151P probably damaging Het
Rnf130 A G 11: 50,071,219 D164G possibly damaging Het
Rps6ka2 C A 17: 7,262,186 L293I probably benign Het
Ruvbl1 A G 6: 88,484,459 T269A possibly damaging Het
Sema4a A T 3: 88,451,422 I10N probably damaging Het
Serpinb6e A T 13: 33,841,060 S83T probably benign Het
Slc12a9 C A 5: 137,315,288 W803L probably damaging Het
Slc3a2 A G 19: 8,708,073 S188P probably damaging Het
Slc7a13 G A 4: 19,818,782 probably benign Het
Spg20 A T 3: 55,127,671 K493* probably null Het
Sun1 T C 5: 139,241,411 V574A probably damaging Het
Supt6 A G 11: 78,208,236 V1603A probably benign Het
Tgm5 A G 2: 121,077,581 V38A possibly damaging Het
Tnfaip2 T A 12: 111,445,858 V231E possibly damaging Het
Tube1 T A 10: 39,145,602 M281K possibly damaging Het
Tubgcp3 A G 8: 12,657,561 Y143H probably benign Het
Tyrp1 A G 4: 80,840,778 Y296C probably damaging Het
Utp4 A G 8: 106,894,669 N26S probably benign Het
Vgf T A 5: 137,031,482 probably benign Het
Zfat T C 15: 68,187,099 K196E possibly damaging Het
Zfp366 G T 13: 99,229,540 S403I probably damaging Het
Zfp462 G A 4: 55,010,529 G832R probably damaging Het
Zfp955a T A 17: 33,242,456 Q234L probably damaging Het
Zufsp T C 10: 33,943,713 T202A probably damaging Het
Other mutations in Tm6sf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01362:Tm6sf2 APN 8 70077915 missense probably damaging 1.00
IGL01382:Tm6sf2 APN 8 70078368 missense probably damaging 1.00
IGL01625:Tm6sf2 APN 8 70076083 missense probably null 1.00
decadence UTSW 8 70075524 missense probably damaging 1.00
R0333:Tm6sf2 UTSW 8 70077914 missense probably damaging 1.00
R0502:Tm6sf2 UTSW 8 70077941 missense probably damaging 0.98
R1427:Tm6sf2 UTSW 8 70075582 missense probably damaging 0.96
R1665:Tm6sf2 UTSW 8 70078930 splice site probably benign
R1863:Tm6sf2 UTSW 8 70079725 missense probably damaging 0.99
R2106:Tm6sf2 UTSW 8 70079746 missense probably benign 0.36
R4974:Tm6sf2 UTSW 8 70075478 intron probably benign
R5358:Tm6sf2 UTSW 8 70074289 missense possibly damaging 0.90
R5875:Tm6sf2 UTSW 8 70075389 missense possibly damaging 0.58
R5914:Tm6sf2 UTSW 8 70075563 missense probably damaging 0.99
R6214:Tm6sf2 UTSW 8 70073074 missense possibly damaging 0.69
R6215:Tm6sf2 UTSW 8 70073074 missense possibly damaging 0.69
R6567:Tm6sf2 UTSW 8 70075524 missense probably damaging 1.00
R7001:Tm6sf2 UTSW 8 70078332 missense probably damaging 0.99
R7180:Tm6sf2 UTSW 8 70076006 missense probably benign 0.22
Predicted Primers PCR Primer
(F):5'- TCCTATACCCCTGACATGGTGAGTG -3'
(R):5'- CAGGTCAGAGTTGGTGAAGAACTTCC -3'

Sequencing Primer
(F):5'- ccaacaccacacctaagcc -3'
(R):5'- AAGAACTTCCTTGGGTGATCAG -3'
Posted On2013-07-24