Incidental Mutation 'R4787:Tmbim1'
ID 367145
Institutional Source Beutler Lab
Gene Symbol Tmbim1
Ensembl Gene ENSMUSG00000006301
Gene Name transmembrane BAX inhibitor motif containing 1
Synonyms 2310061B02Rik
MMRRC Submission 041975-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.188) question?
Stock # R4787 (G1)
Quality Score 195
Status Validated
Chromosome 1
Chromosomal Location 74327406-74343495 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74334519 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 14 (N14D)
Ref Sequence ENSEMBL: ENSMUSP00000115444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016309] [ENSMUST00000027370] [ENSMUST00000087226] [ENSMUST00000113796] [ENSMUST00000130763] [ENSMUST00000141560]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000016309
AA Change: N14D

PolyPhen 2 Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000016309
Gene: ENSMUSG00000006301
AA Change: N14D

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 benign
Transcript: ENSMUST00000113796
AA Change: N14D

PolyPhen 2 Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000109427
Gene: ENSMUSG00000006301
AA Change: N14D

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 possibly damaging
Transcript: ENSMUST00000130763
AA Change: N14D

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000121814
Gene: ENSMUSG00000006301
AA Change: N14D

DomainStartEndE-ValueType
low complexity region 15 30 N/A INTRINSIC
low complexity region 33 65 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000141560
AA Change: N14D

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000115444
Gene: ENSMUSG00000006301
AA Change: N14D

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: ENSMUST00000187941
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186510
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135384
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138620
Meta Mutation Damage Score 0.0747 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 100% (72/72)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik C A 8: 73,199,008 (GRCm39) Y138* probably null Het
4933440M02Rik T C 7: 124,930,714 (GRCm39) noncoding transcript Het
Amy2b T C 3: 113,058,634 (GRCm39) noncoding transcript Het
Anxa1 T A 19: 20,351,118 (GRCm39) D334V probably damaging Het
Atoh8 T C 6: 72,200,761 (GRCm39) T310A possibly damaging Het
BC002059 G A 17: 17,193,810 (GRCm39) noncoding transcript Het
Ccdc40 A G 11: 119,144,447 (GRCm39) D924G possibly damaging Het
Ccm2l A T 2: 152,921,422 (GRCm39) M433L probably benign Het
Cd209e T C 8: 3,901,181 (GRCm39) S158G probably null Het
Cdkn2a C T 4: 89,194,955 (GRCm39) R153H unknown Het
Cfap69 A G 5: 5,696,934 (GRCm39) probably null Het
Col6a5 T C 9: 105,808,280 (GRCm39) T923A unknown Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Ddrgk1 A G 2: 130,500,248 (GRCm39) F216S probably damaging Het
Dysf T A 6: 84,180,310 (GRCm39) C1995* probably null Het
Epb41l5 G A 1: 119,523,725 (GRCm39) P467S probably benign Het
Extl1 G A 4: 134,091,978 (GRCm39) L292F probably damaging Het
Fsd1 A G 17: 56,303,257 (GRCm39) N409D possibly damaging Het
Gm15455 A T 1: 33,876,803 (GRCm39) noncoding transcript Het
Gm8894 A G 14: 55,658,172 (GRCm39) noncoding transcript Het
Gtf3c2 C T 5: 31,314,921 (GRCm39) S942N probably benign Het
Gvin-ps3 T C 7: 105,681,041 (GRCm39) noncoding transcript Het
H2-Ab1 A T 17: 34,486,441 (GRCm39) T167S possibly damaging Het
Ighv8-9 C T 12: 115,432,134 (GRCm39) R59H probably damaging Het
Igsf9b G A 9: 27,228,752 (GRCm39) V171I probably benign Het
Il31ra C T 13: 112,664,079 (GRCm39) E533K possibly damaging Het
Iqgap1 A C 7: 80,385,261 (GRCm39) L1022R probably damaging Het
Kcna4 T C 2: 107,126,813 (GRCm39) F516L probably damaging Het
Kmt2e A G 5: 23,668,081 (GRCm39) T47A possibly damaging Het
L3mbtl2 A G 15: 81,548,175 (GRCm39) probably benign Het
Ldhb-ps C A 19: 21,915,601 (GRCm39) noncoding transcript Het
Lipo3 T A 19: 33,757,749 (GRCm39) Q240L probably benign Het
Lpar5 A G 6: 125,059,461 (GRCm39) probably null Het
Lrrk2 A G 15: 91,597,031 (GRCm39) D541G probably benign Het
Med9 T A 11: 59,839,266 (GRCm39) N58K probably benign Het
Meig1 A G 2: 3,410,251 (GRCm39) V83A possibly damaging Het
Natd1 A C 11: 60,797,822 (GRCm39) C34W probably damaging Het
Nup205 T A 6: 35,178,996 (GRCm39) C689S probably damaging Het
Or4c104 T A 2: 88,586,219 (GRCm39) K267* probably null Het
Or52u1 T C 7: 104,237,167 (GRCm39) M52T probably benign Het
Or5d35 T C 2: 87,855,204 (GRCm39) M46T possibly damaging Het
Or6a2 G A 7: 106,600,293 (GRCm39) A258V probably benign Het
Pdgfrb A C 18: 61,212,759 (GRCm39) S888R probably damaging Het
Plppr4 T C 3: 117,115,979 (GRCm39) E626G probably damaging Het
Ppfia3 C A 7: 44,990,050 (GRCm39) A1159S possibly damaging Het
Pramel32 T A 4: 88,547,450 (GRCm39) K74* probably null Het
Prex1 A G 2: 166,480,260 (GRCm39) V160A probably benign Het
Psmb7 C T 2: 38,478,283 (GRCm39) C247Y probably benign Het
Rbm33 C T 5: 28,547,435 (GRCm39) probably null Het
Rfc5 T C 5: 117,520,485 (GRCm39) T236A probably benign Het
Sdk1 G T 5: 141,568,168 (GRCm39) R122L probably benign Het
Sh3bp1 T C 15: 78,792,195 (GRCm39) S451P possibly damaging Het
Smap1 G T 1: 23,888,347 (GRCm39) probably benign Het
Smc2 T A 4: 52,462,927 (GRCm39) V639E probably damaging Het
Synpo2l T A 14: 20,711,765 (GRCm39) Q511L possibly damaging Het
Taok2 G A 7: 126,467,304 (GRCm39) S167L possibly damaging Het
Tbc1d17 G A 7: 44,492,488 (GRCm39) P392S probably benign Het
Tef T A 15: 81,707,758 (GRCm39) I261N probably damaging Het
Tmprss11c T C 5: 86,404,312 (GRCm39) K121R probably benign Het
Trim36 C A 18: 46,305,599 (GRCm39) M461I probably benign Het
Trpc1 T A 9: 95,603,468 (GRCm39) M355L probably benign Het
Tspyl4 A C 10: 34,173,760 (GRCm39) D84A probably benign Het
Twf1 G T 15: 94,482,315 (GRCm39) P144T probably damaging Het
Ugt1a7c T C 1: 88,023,392 (GRCm39) C184R probably damaging Het
Unc79 C T 12: 103,013,257 (GRCm39) P283S probably damaging Het
Usp45 T C 4: 21,796,860 (GRCm39) C49R probably benign Het
Wdr11 T A 7: 129,210,658 (GRCm39) probably benign Het
Wdr27 A T 17: 15,152,816 (GRCm39) M97K possibly damaging Het
Other mutations in Tmbim1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00983:Tmbim1 APN 1 74,334,422 (GRCm39) missense probably damaging 1.00
IGL03062:Tmbim1 APN 1 74,330,858 (GRCm39) missense possibly damaging 0.63
IGL03306:Tmbim1 APN 1 74,332,225 (GRCm39) missense probably damaging 1.00
R0987:Tmbim1 UTSW 1 74,333,083 (GRCm39) splice site probably null
R1067:Tmbim1 UTSW 1 74,329,905 (GRCm39) unclassified probably benign
R3821:Tmbim1 UTSW 1 74,333,089 (GRCm39) missense probably damaging 1.00
R3881:Tmbim1 UTSW 1 74,329,157 (GRCm39) unclassified probably benign
R4254:Tmbim1 UTSW 1 74,333,090 (GRCm39) missense probably damaging 1.00
R4906:Tmbim1 UTSW 1 74,328,568 (GRCm39) missense probably damaging 1.00
R4949:Tmbim1 UTSW 1 74,334,524 (GRCm39) missense probably damaging 1.00
R5487:Tmbim1 UTSW 1 74,332,164 (GRCm39) missense probably benign 0.02
R6257:Tmbim1 UTSW 1 74,332,225 (GRCm39) missense probably damaging 1.00
R7347:Tmbim1 UTSW 1 74,330,438 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TAAGGGTTCCTCAGTGCCAAG -3'
(R):5'- AATGGCATGTGTAAGCTACAGAC -3'

Sequencing Primer
(F):5'- AGTGCCAAGCTCTACCTTG -3'
(R):5'- CATGTGTAAGCTACAGACATAGC -3'
Posted On 2015-12-29