Incidental Mutation 'R4562:Tm6sf1'
ID 343143
Institutional Source Beutler Lab
Gene Symbol Tm6sf1
Ensembl Gene ENSMUSG00000038623
Gene Name transmembrane 6 superfamily member 1
Synonyms C630016D09Rik
MMRRC Submission 041787-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R4562 (G1)
Quality Score 188
Status Validated
Chromosome 7
Chromosomal Location 81508749-81534182 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 81509209 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 5 (A5T)
Ref Sequence ENSEMBL: ENSMUSP00000038017 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041890] [ENSMUST00000085094] [ENSMUST00000119543] [ENSMUST00000126334]
AlphaFold P58749
Predicted Effect probably damaging
Transcript: ENSMUST00000041890
AA Change: A5T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000038017
Gene: ENSMUSG00000038623
AA Change: A5T

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 benign
Transcript: ENSMUST00000085094
Predicted Effect probably benign
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 possibly damaging
Transcript: ENSMUST00000126334
AA Change: A5T

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121292
Gene: ENSMUSG00000038623
AA Change: A5T

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: ENSMUST00000207657
Meta Mutation Damage Score 0.0795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (53/53)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 G A 3: 36,120,331 (GRCm39) R25K probably benign Het
Acap1 C T 11: 69,776,177 (GRCm39) probably benign Het
Aox1 T C 1: 58,098,215 (GRCm39) L309P probably damaging Het
Asap2 A G 12: 21,162,094 (GRCm39) D17G probably damaging Het
Atp8b1 A T 18: 64,689,962 (GRCm39) V590D probably damaging Het
Bace2 G A 16: 97,223,180 (GRCm39) R368Q probably damaging Het
Cad G A 5: 31,215,477 (GRCm39) S96N possibly damaging Het
Csmd3 T C 15: 47,763,240 (GRCm39) T1303A probably benign Het
Defa24 A G 8: 22,224,523 (GRCm39) probably benign Het
Dffb A G 4: 154,049,913 (GRCm39) C317R probably damaging Het
Erap1 T C 13: 74,821,778 (GRCm39) V711A probably benign Het
Esco1 A G 18: 10,595,074 (GRCm39) S71P possibly damaging Het
Evpl G A 11: 116,124,225 (GRCm39) T198M possibly damaging Het
Gm10797 A G 10: 67,408,515 (GRCm39) noncoding transcript Het
Gm10822 C T 2: 73,729,833 (GRCm39) noncoding transcript Het
Huwe1 A T X: 150,646,955 (GRCm39) I682F probably damaging Het
Ift22 A G 5: 136,941,724 (GRCm39) E152G probably benign Het
Ighv3-5 T A 12: 114,226,498 (GRCm39) T25S possibly damaging Het
Ivl CCTGCTGCTGCT CCTGCTGCTGCTGCT 3: 92,479,262 (GRCm39) probably benign Het
Kcna5 T C 6: 126,511,303 (GRCm39) H275R probably benign Het
Kdm7a C T 6: 39,129,757 (GRCm39) R473Q probably damaging Het
Klf14 G A 6: 30,935,394 (GRCm39) A80V probably damaging Het
Lrrc71 T A 3: 87,652,715 (GRCm39) probably benign Het
Lypd8 T A 11: 58,273,215 (GRCm39) probably null Het
Mef2b G A 8: 70,619,918 (GRCm39) D345N probably damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Mtmr10 C T 7: 63,963,907 (GRCm39) T214M possibly damaging Het
Or10g9b A G 9: 39,917,577 (GRCm39) S223P probably damaging Het
Or13g1 A G 7: 85,956,360 (GRCm39) probably benign Het
Or4f4b A T 2: 111,313,909 (GRCm39) M45L probably benign Het
Orc1 T C 4: 108,459,252 (GRCm39) probably null Het
P4htm T C 9: 108,459,195 (GRCm39) S246G probably null Het
Pax2 A G 19: 44,824,402 (GRCm39) Y374C unknown Het
Pde6b A G 5: 108,551,234 (GRCm39) K173E probably benign Het
Pde8a T A 7: 80,958,568 (GRCm39) Y315* probably null Het
Plekhh2 A G 17: 84,873,525 (GRCm39) D270G probably benign Het
Prr5 A C 15: 84,626,114 (GRCm39) D63A probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Ryr1 C A 7: 28,774,005 (GRCm39) probably benign Het
Slc4a1ap G A 5: 31,689,373 (GRCm39) V347M probably damaging Het
Tasor A G 14: 27,188,265 (GRCm39) T904A possibly damaging Het
Tln1 C A 4: 43,533,598 (GRCm39) A2319S probably damaging Het
Tmem117 A T 15: 94,992,677 (GRCm39) M446L probably benign Het
Tnfrsf22 C T 7: 143,203,313 (GRCm39) R19Q unknown Het
Tnfsf11 T C 14: 78,516,020 (GRCm39) D316G probably damaging Het
Trerf1 G A 17: 47,637,997 (GRCm39) noncoding transcript Het
Ttc13 A G 8: 125,402,016 (GRCm39) L657P probably damaging Het
Unc79 C T 12: 102,957,720 (GRCm39) T45I probably damaging Het
Usp3 G T 9: 66,428,047 (GRCm39) probably benign Het
Vmn2r-ps158 C T 7: 42,672,986 (GRCm39) Q130* probably null Het
Wdr31 A C 4: 62,372,159 (GRCm39) L319W probably damaging Het
Zfp947 G T 17: 22,365,124 (GRCm39) Y183* probably null 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
R0083:Tm6sf1 UTSW 7 81,515,093 (GRCm39) critical splice donor site probably null
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
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'- CATTAAAGCAAGCGTCCTGG -3'
(R):5'- TGGCGTTTCTGGAAGCTAC -3'

Sequencing Primer
(F):5'- CGTTCGTTAGCAGGAGCCTG -3'
(R):5'- TGGAAGCTACCCAGTCCC -3'
Posted On 2015-09-24