Incidental Mutation 'R0083:Tm6sf1'
ID 19758
Institutional Source Beutler Lab
Gene Symbol Tm6sf1
Ensembl Gene ENSMUSG00000038623
Gene Name transmembrane 6 superfamily member 1
Synonyms C630016D09Rik
MMRRC Submission 038370-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R0083 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 81508749-81534182 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 81515093 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041890] [ENSMUST00000119543] [ENSMUST00000119543] [ENSMUST00000126334]
AlphaFold P58749
Predicted Effect probably null
Transcript: ENSMUST00000041890
SMART Domains Protein: ENSMUSP00000038017
Gene: ENSMUSG00000038623

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
transmembrane domain 32 54 N/A INTRINSIC
transmembrane domain 63 82 N/A INTRINSIC
transmembrane domain 110 132 N/A INTRINSIC
transmembrane domain 139 161 N/A INTRINSIC
transmembrane domain 167 189 N/A INTRINSIC
Pfam:DUF2781 217 356 6.9e-23 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000119543
SMART Domains Protein: ENSMUSP00000112400
Gene: ENSMUSG00000038623

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
transmembrane domain 47 69 N/A INTRINSIC
transmembrane domain 76 98 N/A INTRINSIC
Pfam:DUF2781 126 267 9.7e-40 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000119543
SMART Domains Protein: ENSMUSP00000112400
Gene: ENSMUSG00000038623

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
transmembrane domain 47 69 N/A INTRINSIC
transmembrane domain 76 98 N/A INTRINSIC
Pfam:DUF2781 126 267 9.7e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124616
Predicted Effect probably benign
Transcript: ENSMUST00000126334
SMART Domains Protein: ENSMUSP00000121292
Gene: ENSMUSG00000038623

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
transmembrane domain 32 54 N/A INTRINSIC
transmembrane domain 63 82 N/A INTRINSIC
transmembrane domain 110 132 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134861
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147977
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207657
Meta Mutation Damage Score 0.9494 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 97.8%
  • 10x: 94.0%
  • 20x: 83.1%
Validation Efficiency 88% (117/133)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A T 16: 4,667,406 (GRCm39) I266F unknown Het
Adam39 T G 8: 41,278,115 (GRCm39) F169V probably damaging Het
Adcy2 A T 13: 68,800,054 (GRCm39) V858E probably damaging Het
Adgrv1 A G 13: 81,726,523 (GRCm39) probably benign Het
Ankrd26 G T 6: 118,500,215 (GRCm39) H1085Q probably benign Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Atg4c C T 4: 99,109,677 (GRCm39) H215Y possibly damaging Het
Atp6v0d2 G A 4: 19,880,001 (GRCm39) probably benign Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
C1qtnf3 G A 15: 10,975,718 (GRCm39) V175I possibly damaging Het
Cacna1c A G 6: 118,602,484 (GRCm39) M1293T probably damaging Het
Ccdc88a T A 11: 29,453,463 (GRCm39) S337T probably damaging Het
Cntn4 A G 6: 106,502,330 (GRCm39) I362M possibly damaging Het
Col22a1 A T 15: 71,762,346 (GRCm39) D104E possibly damaging Het
Col4a4 T C 1: 82,484,832 (GRCm39) probably null Het
Cul7 C A 17: 46,966,482 (GRCm39) R304S probably benign Het
Elfn2 A T 15: 78,557,614 (GRCm39) L311Q probably damaging Het
Esrrb T C 12: 86,561,226 (GRCm39) L320P probably damaging Het
Fads2b A T 2: 85,324,476 (GRCm39) F283L possibly damaging Het
Fbxw10 A G 11: 62,767,887 (GRCm39) T903A probably benign Het
Fkbp4 G A 6: 128,409,370 (GRCm39) probably benign Het
Gatad2b T A 3: 90,265,250 (GRCm39) Y576N probably damaging Het
Greb1 T C 12: 16,746,452 (GRCm39) M1273V probably benign Het
Helq C A 5: 100,916,234 (GRCm39) E913* probably null Het
Inpp4b C A 8: 82,468,091 (GRCm39) A18E possibly damaging Het
Ints13 A G 6: 146,452,162 (GRCm39) Y686H probably benign Het
Itgb7 C T 15: 102,131,917 (GRCm39) R222H probably damaging Het
Krt81 A G 15: 101,361,346 (GRCm39) I78T probably damaging Het
Lonp2 G A 8: 87,442,983 (GRCm39) V815I probably benign Het
Mctp2 G T 7: 71,878,264 (GRCm39) F271L possibly damaging Het
Mrto4 C T 4: 139,075,279 (GRCm39) V175I possibly damaging Het
Myh14 A G 7: 44,283,943 (GRCm39) V654A probably damaging Het
Neu2 A G 1: 87,524,984 (GRCm39) Y323C probably damaging Het
Nt5dc1 A C 10: 34,279,760 (GRCm39) M94R probably damaging Het
Nup210l A G 3: 90,096,882 (GRCm39) T1364A probably damaging Het
Obscn T C 11: 58,913,200 (GRCm39) D6939G probably damaging Het
Or10q1b A T 19: 13,683,042 (GRCm39) T284S probably damaging Het
Pias4 A G 10: 81,000,000 (GRCm39) S18P probably damaging Het
Plcl1 A G 1: 55,737,098 (GRCm39) Y813C possibly damaging Het
Plk5 G A 10: 80,192,496 (GRCm39) G34S possibly damaging Het
Ptprj A T 2: 90,300,121 (GRCm39) probably null Het
Rps6ka2 G A 17: 7,563,442 (GRCm39) D617N probably benign Het
Sap130 C A 18: 31,799,382 (GRCm39) probably benign Het
Sap130 C T 18: 31,844,694 (GRCm39) P902S probably damaging Het
Sec11a A G 7: 80,584,787 (GRCm39) V50A probably damaging Het
Sel1l3 C T 5: 53,295,244 (GRCm39) A786T possibly damaging Het
Shroom1 T C 11: 53,357,764 (GRCm39) S772P possibly damaging Het
Slc15a2 T C 16: 36,602,645 (GRCm39) Y72C probably damaging Het
Slc26a6 T C 9: 108,736,312 (GRCm39) probably null Het
Slc30a5 G T 13: 100,939,908 (GRCm39) A669E probably damaging Het
Sppl2c G A 11: 104,077,358 (GRCm39) V53I probably benign Het
Sstr1 T A 12: 58,260,528 (GRCm39) C384S possibly damaging Het
Sulf1 A G 1: 12,887,641 (GRCm39) M272V probably damaging Het
Tmem94 A G 11: 115,687,550 (GRCm39) probably benign Het
Topaz1 A T 9: 122,604,674 (GRCm39) I1093L probably benign Het
Ttll4 G T 1: 74,718,928 (GRCm39) V260L probably benign Het
Vmn2r26 A T 6: 124,030,940 (GRCm39) probably null Het
Vmn2r75 G A 7: 85,814,866 (GRCm39) A209V probably benign Het
Zfand3 A G 17: 30,354,372 (GRCm39) E63G probably damaging Het
Zfp939 A T 7: 39,123,534 (GRCm39) noncoding transcript Het
Other mutations in Tm6sf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02115:Tm6sf1 APN 7 81,525,551 (GRCm39) missense probably damaging 1.00
IGL02145:Tm6sf1 APN 7 81,513,000 (GRCm39) nonsense probably null
IGL02472:Tm6sf1 APN 7 81,525,572 (GRCm39) splice site probably benign
IGL02862:Tm6sf1 APN 7 81,520,504 (GRCm39) missense probably damaging 0.98
R0108:Tm6sf1 UTSW 7 81,515,093 (GRCm39) critical splice donor site probably null
R0661:Tm6sf1 UTSW 7 81,515,093 (GRCm39) critical splice donor site probably null
R3019:Tm6sf1 UTSW 7 81,525,813 (GRCm39) missense probably benign 0.01
R4562:Tm6sf1 UTSW 7 81,509,209 (GRCm39) missense probably damaging 1.00
R4825:Tm6sf1 UTSW 7 81,515,008 (GRCm39) missense probably damaging 0.97
R4851:Tm6sf1 UTSW 7 81,515,091 (GRCm39) missense probably null 1.00
R5285:Tm6sf1 UTSW 7 81,509,200 (GRCm39) missense possibly damaging 0.94
R6454:Tm6sf1 UTSW 7 81,525,801 (GRCm39) missense probably damaging 1.00
R7624:Tm6sf1 UTSW 7 81,518,458 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- CTGTGTAGATGACGCCCACAGAATC -3'
(R):5'- TGGTTGGTAGGGACTTCCAAAAGC -3'

Sequencing Primer
(F):5'- CAGAATCTTCTGGGACACCTAGTG -3'
(R):5'- gcttcccaaatgctgagattac -3'
Posted On 2013-04-11