Incidental Mutation 'IGL03062:Tmbim1'
ID409489
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? Possibly non essential (E-score: 0.281) question?
Stock #IGL03062
Quality Score
Status
Chromosome1
Chromosomal Location74288247-74305622 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 74291699 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 168 (I168N)
Ref Sequence ENSEMBL: ENSMUSP00000109427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016309] [ENSMUST00000027370] [ENSMUST00000087226] [ENSMUST00000113796] [ENSMUST00000113805] [ENSMUST00000130763] [ENSMUST00000141560]
Predicted Effect possibly damaging
Transcript: ENSMUST00000016309
AA Change: I168N

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000016309
Gene: ENSMUSG00000006301
AA Change: I168N

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 possibly damaging
Transcript: ENSMUST00000113796
AA Change: I168N

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000109427
Gene: ENSMUSG00000006301
AA Change: I168N

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: ENSMUST00000113805
SMART Domains Protein: ENSMUSP00000109436
Gene: ENSMUSG00000026179

DomainStartEndE-ValueType
Blast:Lactamase_B 4 79 4e-28 BLAST
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: ENSMUST00000152492
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152603
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154859
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186510
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187941
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192088
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 37,038,517 probably benign Het
Abcb10 C T 8: 123,954,315 R714Q possibly damaging Het
Abcb5 T A 12: 118,936,087 I282L probably benign Het
Aox1 A T 1: 58,078,465 E835D probably benign Het
Arhgap17 C T 7: 123,321,874 probably null Het
Calcr C T 6: 3,693,718 V359I probably benign Het
Chd9 T A 8: 91,015,267 probably benign Het
Col28a1 T C 6: 8,017,029 probably benign Het
Dnajc11 A G 4: 151,970,861 E171G possibly damaging Het
Efhd1 T C 1: 87,264,684 F79L possibly damaging Het
Fam83a A T 15: 57,993,077 probably null Het
Fam98a A G 17: 75,540,105 probably benign Het
Ficd A G 5: 113,738,253 Y163C probably damaging Het
Filip1l T C 16: 57,506,804 S66P probably damaging Het
Fmo5 A G 3: 97,635,593 Y73C probably damaging Het
Galnt12 C A 4: 47,122,566 R574S possibly damaging Het
Klc3 C A 7: 19,395,062 G461W probably damaging Het
Lmo7 A T 14: 101,912,079 T973S possibly damaging Het
Loxl1 C A 9: 58,311,910 G326V possibly damaging Het
Lrrc24 A G 15: 76,718,304 V127A probably benign Het
Lyrm1 T C 7: 119,916,131 probably benign Het
Med28 G A 5: 45,522,469 V65I probably damaging Het
Mgat4c T C 10: 102,388,461 Y179H probably damaging Het
Micall1 A C 15: 79,114,681 N58T probably damaging Het
Ncoa4 T A 14: 32,173,420 M72K possibly damaging Het
Nutm1 T C 2: 112,248,933 Q879R probably benign Het
Olfr1428 C T 19: 12,109,148 V133I probably benign Het
Olfr870 T A 9: 20,171,167 I135F probably damaging Het
Olfr965 T A 9: 39,720,035 D269E probably benign Het
Phf11b T C 14: 59,324,924 I177M probably damaging Het
Pin1rt1 T G 2: 104,714,707 I27L probably benign Het
Plxna2 T C 1: 194,762,550 V750A possibly damaging Het
Pou5f1 A T 17: 35,510,039 N126I possibly damaging Het
Ptprn A T 1: 75,247,873 H946Q possibly damaging Het
Rnf43 G T 11: 87,732,304 G744* probably null Het
Rsbn1 C A 3: 103,953,629 probably benign Het
Sars2 T A 7: 28,746,781 I145N possibly damaging Het
Sh3tc2 A T 18: 62,011,880 E1135V probably damaging Het
Shroom1 A G 11: 53,463,379 D42G probably benign Het
Sidt2 A G 9: 45,942,683 probably null Het
Slc39a8 T C 3: 135,886,797 probably benign Het
Slc9c1 T C 16: 45,599,758 S1059P probably benign Het
Socs6 A T 18: 88,869,846 M315K probably benign Het
Soga3 T A 10: 29,198,949 F911Y probably damaging Het
Speer2 T C 16: 69,857,977 E200G probably damaging Het
Sult2a5 T A 7: 13,624,182 probably null Het
Trim38 T C 13: 23,782,963 V131A probably damaging Het
Ube2o A G 11: 116,541,642 S833P probably damaging Het
Uggt2 T C 14: 119,075,346 I350M probably damaging Het
Unc80 A G 1: 66,509,489 D640G probably damaging Het
Vmn2r13 A G 5: 109,156,282 F761S probably damaging Het
Vmn2r54 C T 7: 12,632,428 C193Y probably damaging Het
Other mutations in Tmbim1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00983:Tmbim1 APN 1 74295263 missense probably damaging 1.00
IGL03306:Tmbim1 APN 1 74293066 missense probably damaging 1.00
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