Incidental Mutation 'R1195:Tmbim7'
ID 197524
Institutional Source Beutler Lab
Gene Symbol Tmbim7
Ensembl Gene ENSMUSG00000014529
Gene Name transmembrane BAX inhibitor motif containing 7
Synonyms 4930403J02Rik, 4930500J03Rik, Lfg5, Tmbim1b, 4930511M11Rik
MMRRC Submission 039267-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R1195 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 3707004-3729865 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3711943 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 63 (T63A)
Ref Sequence ENSEMBL: ENSMUSP00000014673 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014673] [ENSMUST00000156117] [ENSMUST00000196304] [ENSMUST00000198739] [ENSMUST00000199959]
AlphaFold Q9D592
Predicted Effect probably benign
Transcript: ENSMUST00000014673
AA Change: T63A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000014673
Gene: ENSMUSG00000014529
AA Change: T63A

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: T26A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000117435
Gene: ENSMUSG00000014529
AA Change: T26A

DomainStartEndE-ValueType
Pfam:Bax1-I 55 205 2e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196304
Predicted Effect probably benign
Transcript: ENSMUST00000198739
SMART Domains Protein: ENSMUSP00000143399
Gene: ENSMUSG00000014529

DomainStartEndE-ValueType
Pfam:Bax1-I 28 222 3.2e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199959
SMART Domains Protein: ENSMUSP00000143241
Gene: ENSMUSG00000014529

DomainStartEndE-ValueType
Pfam:Bax1-I 1 96 2.6e-7 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.8%
Validation Efficiency 100% (39/39)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtr1a C A 13: 30,565,901 (GRCm39) P322Q probably damaging Het
Amh AGCGCCTTGG AG 10: 80,641,419 (GRCm39) probably null Het
Brd1 T C 15: 88,585,014 (GRCm39) E940G probably benign Het
Cd163 T A 6: 124,302,209 (GRCm39) probably benign Het
Cd28 C T 1: 60,802,303 (GRCm39) T74I possibly damaging Het
Cntnap2 T A 6: 46,460,902 (GRCm39) M646K probably benign Het
Cyb5d1 C T 11: 69,285,797 (GRCm39) probably null Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Dab2ip T C 2: 35,608,757 (GRCm39) probably benign Het
Dnajc25 C T 4: 59,003,415 (GRCm39) A62V probably damaging Het
Dst A G 1: 34,250,235 (GRCm39) D4063G probably damaging Het
Elmod1 T C 9: 53,843,052 (GRCm39) Y42C probably damaging Het
Hdac5 T C 11: 102,096,332 (GRCm39) I310V probably damaging Het
Hpx A G 7: 105,248,856 (GRCm39) probably benign Het
Ighv10-1 A T 12: 114,443,015 (GRCm39) probably benign Het
Igsf3 A G 3: 101,365,419 (GRCm39) D1130G probably benign Het
Katnip A G 7: 125,465,654 (GRCm39) R1343G probably damaging Het
Kdm4d A G 9: 14,374,395 (GRCm39) S488P probably benign Het
Lingo2 A G 4: 35,708,538 (GRCm39) Y481H probably damaging Het
Ltbp1 A G 17: 75,532,280 (GRCm39) Q118R possibly damaging Het
Map3k20 C T 2: 72,268,562 (GRCm39) P523L probably damaging Het
Msx1 A G 5: 37,978,625 (GRCm39) Y297H probably damaging Het
Myo9a A G 9: 59,802,483 (GRCm39) D1990G probably damaging Het
Niban2 T C 2: 32,809,815 (GRCm39) V304A probably benign Het
Perp C A 10: 18,731,483 (GRCm39) Y147* probably null Het
Prr16 A T 18: 51,435,755 (GRCm39) D78V probably damaging Het
Rfx7 C T 9: 72,525,228 (GRCm39) T806M probably damaging Het
Robo2 T C 16: 73,713,016 (GRCm39) probably null Het
Sema5b A T 16: 35,472,030 (GRCm39) E496V probably null Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Spdl1 T C 11: 34,710,644 (GRCm39) Y368C probably damaging Het
Sptbn2 G C 19: 4,795,921 (GRCm39) R1700P possibly damaging Het
Tenm2 C T 11: 35,954,004 (GRCm39) G1236R possibly damaging Het
Tln2 T G 9: 67,165,848 (GRCm39) K1000Q probably damaging Het
Tmed11 T C 5: 108,926,885 (GRCm39) D129G possibly damaging Het
Ttc28 G A 5: 111,373,543 (GRCm39) S962N probably damaging Het
Ttll6 T C 11: 96,026,555 (GRCm39) I113T probably damaging Het
Uso1 T A 5: 92,318,606 (GRCm39) F210L probably damaging Het
Uspl1 T A 5: 149,131,131 (GRCm39) V224E probably benign Het
Zfp639 G A 3: 32,573,345 (GRCm39) V86I possibly damaging Het
Other mutations in Tmbim7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00719:Tmbim7 APN 5 3,729,087 (GRCm39) missense probably damaging 1.00
IGL01712:Tmbim7 APN 5 3,720,074 (GRCm39) missense probably damaging 1.00
IGL03003:Tmbim7 APN 5 3,711,887 (GRCm39) missense probably benign 0.39
IGL03115:Tmbim7 APN 5 3,729,158 (GRCm39) makesense probably null
FR4340:Tmbim7 UTSW 5 3,720,064 (GRCm39) missense possibly damaging 0.50
FR4342:Tmbim7 UTSW 5 3,720,064 (GRCm39) missense possibly damaging 0.50
FR4589:Tmbim7 UTSW 5 3,720,064 (GRCm39) missense possibly damaging 0.50
R0241:Tmbim7 UTSW 5 3,716,866 (GRCm39) missense probably benign 0.15
R0241:Tmbim7 UTSW 5 3,716,866 (GRCm39) missense probably benign 0.15
R1195:Tmbim7 UTSW 5 3,711,943 (GRCm39) missense probably benign 0.00
R1195:Tmbim7 UTSW 5 3,711,943 (GRCm39) missense probably benign 0.00
R1462:Tmbim7 UTSW 5 3,714,304 (GRCm39) missense probably damaging 1.00
R1462:Tmbim7 UTSW 5 3,714,304 (GRCm39) missense probably damaging 1.00
R1590:Tmbim7 UTSW 5 3,715,338 (GRCm39) splice site probably null
R1795:Tmbim7 UTSW 5 3,707,493 (GRCm39) splice site probably null
R2919:Tmbim7 UTSW 5 3,723,188 (GRCm39) critical splice donor site probably null
R3896:Tmbim7 UTSW 5 3,711,916 (GRCm39) missense probably benign 0.00
R4353:Tmbim7 UTSW 5 3,711,796 (GRCm39) missense probably benign 0.00
R4930:Tmbim7 UTSW 5 3,711,948 (GRCm39) nonsense probably null
R5277:Tmbim7 UTSW 5 3,723,192 (GRCm39) splice site probably null
R6475:Tmbim7 UTSW 5 3,714,319 (GRCm39) missense probably benign 0.04
R6633:Tmbim7 UTSW 5 3,707,659 (GRCm39) splice site probably null
R6835:Tmbim7 UTSW 5 3,711,943 (GRCm39) missense probably benign 0.11
R7047:Tmbim7 UTSW 5 3,720,112 (GRCm39) missense probably benign 0.07
R9709:Tmbim7 UTSW 5 3,711,809 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TTGGAGGTCAGTGAGCCAGTCAAC -3'
(R):5'- CACAGCATTGCCCTTAGCTACTGTC -3'

Sequencing Primer
(F):5'- GTGAGCCAGTCAACTTTAGC -3'
(R):5'- ATGGCAGCCTTTGACACATC -3'
Posted On 2014-05-23