Incidental Mutation 'IGL01712:Tmbim7'
ID104824
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmbim7
Ensembl Gene ENSMUSG00000014529
Gene Nametransmembrane BAX inhibitor motif containing 7
SynonymsLgf5, 4930403J02Rik, Tmbim1b, 4930511M11Rik, 4930500J03Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.040) question?
Stock #IGL01712
Quality Score
Status
Chromosome5
Chromosomal Location3651181-3680325 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 3670074 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 116 (T116A)
Ref Sequence ENSEMBL: ENSMUSP00000143399 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014673] [ENSMUST00000156117] [ENSMUST00000198739] [ENSMUST00000199959]
Predicted Effect probably damaging
Transcript: ENSMUST00000014673
AA Change: T194A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000014673
Gene: ENSMUSG00000014529
AA Change: T194A

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 damaging
Transcript: ENSMUST00000156117
AA Change: T143A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117435
Gene: ENSMUSG00000014529
AA Change: T143A

DomainStartEndE-ValueType
Pfam:Bax1-I 55 205 2e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000198739
AA Change: T116A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143399
Gene: ENSMUSG00000014529
AA Change: T116A

DomainStartEndE-ValueType
Pfam:Bax1-I 28 222 3.2e-33 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000199959
AA Change: H103R

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000143241
Gene: ENSMUSG00000014529
AA Change: H103R

DomainStartEndE-ValueType
Pfam:Bax1-I 1 96 2.6e-7 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 A G 1: 25,826,279 V161A probably benign Het
Arhgdib G A 6: 136,924,197 T178M probably damaging Het
Atp11a T A 8: 12,851,138 I989K probably benign Het
Bcam T C 7: 19,758,767 S498G probably damaging Het
Bcas3 A G 11: 85,581,048 I728V probably damaging Het
Cep57 G T 9: 13,813,417 P119Q possibly damaging Het
Clip4 T A 17: 71,799,041 I73N probably damaging Het
Cpa4 A G 6: 30,590,816 D371G possibly damaging Het
Dnah7a A G 1: 53,423,270 S3721P probably benign Het
Fam166a T C 2: 25,218,792 probably benign Het
Fcrla T C 1: 170,921,623 probably null Het
Foxg1 T C 12: 49,385,620 S379P possibly damaging Het
Gatm T A 2: 122,600,825 Y227F possibly damaging Het
Gm8298 T A 3: 59,868,900 I164N possibly damaging Het
Grid2 A T 6: 64,665,915 D887V possibly damaging Het
Gtpbp6 A T 5: 110,104,379 I429N probably benign Het
Ighmbp2 A G 19: 3,273,038 probably benign Het
Irs4 T C X: 141,722,399 N934D unknown Het
Kif16b T A 2: 142,648,471 N1257I probably damaging Het
L1cam T C X: 73,864,438 Y169C probably damaging Het
L3mbtl3 A T 10: 26,276,235 M821K probably damaging Het
Lig3 A G 11: 82,789,541 probably benign Het
Lpin2 T A 17: 71,215,068 D32E probably damaging Het
Mcoln3 T C 3: 146,128,264 probably benign Het
Mgst2 T C 3: 51,664,571 V40A probably damaging Het
Mov10l1 T C 15: 89,024,766 S997P probably damaging Het
Mycbpap G T 11: 94,512,655 H187Q possibly damaging Het
Olfr136 A T 17: 38,335,957 T267S probably benign Het
Olfr652 T C 7: 104,565,019 V266A probably benign Het
Onecut2 T A 18: 64,386,602 S478T probably damaging Het
Pcdhb5 A T 18: 37,321,253 I229F probably damaging Het
Pfas A G 11: 68,991,060 V933A probably benign Het
Phldb2 A T 16: 45,751,429 I1200N probably damaging Het
Pla2g4e C A 2: 120,189,403 probably null Het
Prr36 G A 8: 4,215,243 P169L probably damaging Het
Rhot2 A G 17: 25,841,360 probably null Het
Serpina3f C T 12: 104,218,398 P267L probably damaging Het
Sppl2a C T 2: 126,904,903 probably benign Het
Tas2r122 A T 6: 132,711,762 M56K possibly damaging Het
Tbxas1 A G 6: 39,081,060 T450A probably benign Het
Tex16 T C X: 112,093,754 S87P probably damaging Het
Them7 T A 2: 105,378,885 F183L possibly damaging Het
Tomm40 G T 7: 19,703,363 S224R probably benign Het
Top3a A T 11: 60,761,736 I84N probably damaging Het
Vmn1r28 A G 6: 58,265,408 T79A probably benign Het
Vmn2r61 A T 7: 42,260,237 Y62F probably damaging Het
Zbtb42 T C 12: 112,680,284 C298R probably benign Het
Zfp395 G A 14: 65,386,387 E102K probably damaging Het
Other mutations in Tmbim7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00719:Tmbim7 APN 5 3679087 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
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
Posted On2014-01-21