Incidental Mutation 'R0241:Tmbim7'
ID66175
Institutional Source Beutler Lab
Gene Symbol Tmbim7
Ensembl Gene ENSMUSG00000014529
Gene Nametransmembrane BAX inhibitor motif containing 7
SynonymsLgf5, 4930403J02Rik, Tmbim1b, 4930511M11Rik, 4930500J03Rik
MMRRC Submission 038479-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.085) question?
Stock #R0241 (G1)
Quality Score172
Status Not validated
Chromosome5
Chromosomal Location3651181-3680325 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 3666866 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 66 (Y66F)
Ref Sequence ENSEMBL: ENSMUSP00000143241 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014673] [ENSMUST00000156117] [ENSMUST00000198739] [ENSMUST00000199959]
Predicted Effect probably benign
Transcript: ENSMUST00000014673
AA Change: Y161F

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000014673
Gene: ENSMUSG00000014529
AA Change: Y161F

DomainStartEndE-ValueType
Pfam:Bax1-I 92 300 3.6e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000115515
SMART Domains Protein: ENSMUSP00000111177
Gene: ENSMUSG00000014529

DomainStartEndE-ValueType
transmembrane domain 100 122 N/A INTRINSIC
transmembrane domain 143 162 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000156117
AA Change: Y110F

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000117435
Gene: ENSMUSG00000014529
AA Change: Y110F

DomainStartEndE-ValueType
Pfam:Bax1-I 55 205 2e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000198739
AA Change: Y83F

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000143399
Gene: ENSMUSG00000014529
AA Change: Y83F

DomainStartEndE-ValueType
Pfam:Bax1-I 28 222 3.2e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199959
AA Change: Y66F

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000143241
Gene: ENSMUSG00000014529
AA Change: Y66F

DomainStartEndE-ValueType
Pfam:Bax1-I 1 96 2.6e-7 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.1%
  • 10x: 89.8%
  • 20x: 65.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck2 T A 6: 39,583,818 V380E probably benign Het
Anapc1 A T 2: 128,628,629 M1527K possibly damaging Het
Bicra A T 7: 15,975,145 M1188K probably damaging Het
Brd7 G A 8: 88,345,850 R331W probably benign Het
Cactin A G 10: 81,322,652 T151A probably benign Het
Cadps G A 14: 12,376,675 T1274M probably damaging Het
Catsper3 T C 13: 55,804,854 M175T probably damaging Het
Chd5 A G 4: 152,366,132 D605G probably damaging Het
Chst12 G A 5: 140,524,299 R227H possibly damaging Het
Cobl A T 11: 12,254,524 V644E probably benign Het
Ddx31 A G 2: 28,848,291 T155A probably damaging Het
Dnah3 T C 7: 119,922,730 Q4069R probably damaging Het
Dnah8 T C 17: 30,765,679 I3117T probably damaging Het
Doc2b A G 11: 75,772,561 V355A probably damaging Het
Dock10 A T 1: 80,578,623 S578T probably benign Het
Fcer2a A G 8: 3,688,796 probably null Het
Fmnl1 G A 11: 103,182,170 probably null Het
Git2 T C 5: 114,733,229 E208G probably damaging Het
Hs6st3 T C 14: 119,138,820 F136L probably benign Het
Hydin G A 8: 110,398,023 V555I probably benign Het
Kmt2b A G 7: 30,577,069 L1726S probably damaging Het
Loxl3 A G 6: 83,050,133 D615G probably damaging Het
Nfasc C A 1: 132,636,993 A70S probably benign Het
Olfr1182 A T 2: 88,446,545 M131K possibly damaging Het
Olfr464 T A 11: 87,914,034 N291Y probably damaging Het
Olfr658 A G 7: 104,645,243 M41T probably benign Het
Olfr998 A G 2: 85,590,810 K90R probably benign Het
Pde7b A G 10: 20,436,216 C239R probably damaging Het
Pdzd2 A T 15: 12,367,941 L2654Q probably damaging Het
Pgap1 T C 1: 54,535,951 probably null Het
Proz T A 8: 13,065,356 M124K probably benign Het
Raet1d A G 10: 22,371,429 T135A probably benign Het
Rapgef1 A G 2: 29,702,670 N558S possibly damaging Het
Sfi1 CCTCTC CCTCTCTC 11: 3,177,419 probably benign Het
Simc1 G T 13: 54,550,525 L1319F probably damaging Het
Sspo A G 6: 48,461,495 E1499G possibly damaging Het
Tas2r118 T C 6: 23,969,339 Y241C probably damaging Het
Tbck A G 3: 132,724,875 E344G probably benign Het
Tcam1 G A 11: 106,284,078 E120K probably benign Het
Vil1 T C 1: 74,426,694 L548P probably damaging Het
Wdr3 A G 3: 100,145,657 V593A probably damaging Het
Zan T C 5: 137,421,822 T2858A unknown Het
Zbtb37 A T 1: 161,020,369 V356E probably benign Het
Zfp36 C T 7: 28,378,334 V50I probably damaging Het
Zfp563 A T 17: 33,104,685 S85C possibly damaging Het
Other mutations in Tmbim7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00719:Tmbim7 APN 5 3679087 missense probably damaging 1.00
IGL01712:Tmbim7 APN 5 3670074 missense probably damaging 1.00
IGL03003:Tmbim7 APN 5 3661887 missense probably benign 0.39
IGL03115:Tmbim7 APN 5 3679158 makesense probably null
FR4340:Tmbim7 UTSW 5 3670064 missense possibly damaging 0.50
FR4342:Tmbim7 UTSW 5 3670064 missense possibly damaging 0.50
FR4589:Tmbim7 UTSW 5 3670064 missense possibly damaging 0.50
R0241:Tmbim7 UTSW 5 3666866 missense probably benign 0.15
R1195:Tmbim7 UTSW 5 3661943 missense probably benign 0.00
R1195:Tmbim7 UTSW 5 3661943 missense probably benign 0.00
R1195:Tmbim7 UTSW 5 3661943 missense probably benign 0.00
R1462:Tmbim7 UTSW 5 3664304 missense probably damaging 1.00
R1462:Tmbim7 UTSW 5 3664304 missense probably damaging 1.00
R1590:Tmbim7 UTSW 5 3665338 splice site probably null
R1795:Tmbim7 UTSW 5 3657493 unclassified probably null
R2919:Tmbim7 UTSW 5 3673188 critical splice donor site probably null
R3896:Tmbim7 UTSW 5 3661916 missense probably benign 0.00
R4353:Tmbim7 UTSW 5 3661796 missense probably benign 0.00
R4930:Tmbim7 UTSW 5 3661948 nonsense probably null
R5277:Tmbim7 UTSW 5 3673192 splice site probably null
R6475:Tmbim7 UTSW 5 3664319 missense probably benign 0.04
R6633:Tmbim7 UTSW 5 3657659 intron probably null
R6835:Tmbim7 UTSW 5 3661943 missense probably benign 0.11
R7047:Tmbim7 UTSW 5 3670112 missense probably benign 0.07
Predicted Primers
Posted On2013-08-19