Incidental Mutation 'IGL03306:Tmbim1'
ID416395
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmbim1
Ensembl Gene ENSMUSG00000006301
Gene Nametransmembrane BAX inhibitor motif containing 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.209) question?
Stock #IGL03306
Quality Score
Status
Chromosome1
Chromosomal Location74288247-74305622 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 74293066 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 101 (Y101H)
Ref Sequence ENSEMBL: ENSMUSP00000109427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016309] [ENSMUST00000027370] [ENSMUST00000087226] [ENSMUST00000113796] [ENSMUST00000130763] [ENSMUST00000141560]
Predicted Effect probably damaging
Transcript: ENSMUST00000016309
AA Change: Y101H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000016309
Gene: ENSMUSG00000006301
AA Change: Y101H

DomainStartEndE-ValueType
low complexity region 15 30 N/A INTRINSIC
low complexity region 33 65 N/A INTRINSIC
Pfam:Bax1-I 94 305 1.3e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000027370
SMART Domains Protein: ENSMUSP00000027370
Gene: ENSMUSG00000026179

DomainStartEndE-ValueType
Blast:Lactamase_B 4 79 1e-24 BLAST
Lactamase_B 129 291 1.05e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000087226
SMART Domains Protein: ENSMUSP00000084478
Gene: ENSMUSG00000026179

DomainStartEndE-ValueType
low complexity region 43 61 N/A INTRINSIC
Pfam:DUF4748 71 121 2.9e-23 PFAM
Lactamase_B 168 330 1.05e-31 SMART
Pfam:HAGH_C 331 421 6.2e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113796
AA Change: Y101H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109427
Gene: ENSMUSG00000006301
AA Change: Y101H

DomainStartEndE-ValueType
low complexity region 15 30 N/A INTRINSIC
low complexity region 33 65 N/A INTRINSIC
Pfam:Bax1-I 94 305 4.6e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128505
SMART Domains Protein: ENSMUSP00000122874
Gene: ENSMUSG00000006301

DomainStartEndE-ValueType
Pfam:Bax1-I 1 152 3.3e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130763
SMART Domains Protein: ENSMUSP00000121814
Gene: ENSMUSG00000006301

DomainStartEndE-ValueType
low complexity region 15 30 N/A INTRINSIC
low complexity region 33 65 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135384
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138620
Predicted Effect probably benign
Transcript: ENSMUST00000141560
SMART Domains Protein: ENSMUSP00000115444
Gene: ENSMUSG00000006301

DomainStartEndE-ValueType
low complexity region 15 30 N/A INTRINSIC
low complexity region 33 65 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152603
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154859
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186510
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187941
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit susceptibility to cystic medial degeneration without inflammation or change in blood pressure and are prone to aortic dilation with age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl1 T A 7: 76,589,504 F584Y probably damaging Het
Amer2 C A 14: 60,378,552 D65E probably damaging Het
Arhgap28 A T 17: 67,852,935 L623Q probably damaging Het
Cep152 T C 2: 125,605,408 T407A possibly damaging Het
Cmpk2 A G 12: 26,471,443 D238G possibly damaging Het
Fam169a C A 13: 97,106,989 Q176K possibly damaging Het
Fbxo17 T A 7: 28,735,357 I189N probably damaging Het
Gm5581 T A 6: 131,168,081 noncoding transcript Het
Gpcpd1 C T 2: 132,534,073 probably null Het
Lhx2 A G 2: 38,354,616 Y123C probably damaging Het
Llgl1 C A 11: 60,711,354 T741N possibly damaging Het
Macc1 A G 12: 119,446,868 Q457R probably benign Het
Mthfd2l A G 5: 91,020,208 T321A probably damaging Het
Myo6 T C 9: 80,246,555 F271S probably damaging Het
Ncoa6 A G 2: 155,405,507 V1959A probably benign Het
Npsr1 A G 9: 24,313,239 D304G probably benign Het
Nup205 T C 6: 35,208,169 V841A probably damaging Het
Olfr352 A T 2: 36,870,525 probably benign Het
Olfr95 A G 17: 37,211,677 Y59H probably damaging Het
Osbpl9 A G 4: 109,172,332 probably benign Het
Pdgfra A G 5: 75,192,533 N995D possibly damaging Het
Ptgs1 A T 2: 36,237,705 H92L probably damaging Het
Rasd1 T A 11: 59,964,355 I100F possibly damaging Het
Rbm26 T C 14: 105,151,322 T378A probably damaging Het
Slc12a3 T C 8: 94,351,758 S805P possibly damaging Het
Smarcal1 G A 1: 72,626,466 V708I probably benign Het
Strn A G 17: 78,667,223 S408P probably damaging Het
Suclg1 A G 6: 73,270,992 N232S probably benign Het
Ube3a T A 7: 59,286,147 L614Q probably damaging Het
Wrn A G 8: 33,336,121 L171P probably damaging Het
Zfp335 T C 2: 164,895,984 probably benign Het
Other mutations in Tmbim1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00983:Tmbim1 APN 1 74295263 missense probably damaging 1.00
IGL03062:Tmbim1 APN 1 74291699 missense possibly damaging 0.63
R0987:Tmbim1 UTSW 1 74293924 unclassified probably null
R1067:Tmbim1 UTSW 1 74290746 unclassified probably benign
R3821:Tmbim1 UTSW 1 74293930 missense probably damaging 1.00
R3881:Tmbim1 UTSW 1 74289998 unclassified probably benign
R4254:Tmbim1 UTSW 1 74293931 missense probably damaging 1.00
R4787:Tmbim1 UTSW 1 74295360 missense possibly damaging 0.74
R4906:Tmbim1 UTSW 1 74289409 missense probably damaging 1.00
R4949:Tmbim1 UTSW 1 74295365 missense probably damaging 1.00
R5487:Tmbim1 UTSW 1 74293005 missense probably benign 0.02
R6257:Tmbim1 UTSW 1 74293066 missense probably damaging 1.00
R7347:Tmbim1 UTSW 1 74291279 missense probably benign
Posted On2016-08-02