Incidental Mutation 'R7047:Tmbim7'
ID 547363
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 045145-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R7047 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 3707004-3729865 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 3720112 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 116 (T116S)
Ref Sequence ENSEMBL: ENSMUSP00000143241 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014673] [ENSMUST00000156117] [ENSMUST00000198739] [ENSMUST00000199959]
AlphaFold Q9D592
Predicted Effect silent
Transcript: ENSMUST00000014673
SMART Domains Protein: ENSMUSP00000014673
Gene: ENSMUSG00000014529

DomainStartEndE-ValueType
Pfam:Bax1-I 92 300 3.6e-39 PFAM
Predicted Effect silent
Transcript: ENSMUST00000156117
SMART Domains Protein: ENSMUSP00000117435
Gene: ENSMUSG00000014529

DomainStartEndE-ValueType
Pfam:Bax1-I 55 205 2e-20 PFAM
Predicted Effect silent
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
AA Change: T116S

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000143241
Gene: ENSMUSG00000014529
AA Change: T116S

DomainStartEndE-ValueType
Pfam:Bax1-I 1 96 2.6e-7 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (53/54)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A T 14: 32,382,131 (GRCm39) I1278N possibly damaging Het
Adcy5 T A 16: 35,087,585 (GRCm39) L482Q probably damaging Het
Adora2a A G 10: 75,162,145 (GRCm39) I95V probably damaging Het
Anapc1 A C 2: 128,457,350 (GRCm39) C1887G probably damaging Het
Arfgef2 T A 2: 166,693,865 (GRCm39) probably null Het
Capn11 G T 17: 45,949,622 (GRCm39) S448* probably null Het
Capn7 C T 14: 31,058,642 (GRCm39) probably benign Het
Cep55 T A 19: 38,048,539 (GRCm39) V65D possibly damaging Het
Col5a1 A G 2: 27,818,096 (GRCm39) K107R unknown Het
Dbh T A 2: 27,055,622 (GRCm39) I32N possibly damaging Het
Disp1 C A 1: 182,869,030 (GRCm39) R1130L probably damaging Het
Dzip3 A T 16: 48,802,489 (GRCm39) N13K probably benign Het
Emilin1 A G 5: 31,074,422 (GRCm39) N221S probably benign Het
Ext2 A G 2: 93,570,002 (GRCm39) F470L probably damaging Het
Filip1 T A 9: 79,760,916 (GRCm39) Q206L probably damaging Het
Garin1b T A 6: 29,323,809 (GRCm39) L178H probably damaging Het
Gpr63 G T 4: 25,007,320 (GRCm39) A15S probably benign Het
Grhl3 T C 4: 135,276,551 (GRCm39) probably null Het
Hspa5 C T 2: 34,663,204 (GRCm39) P127L probably damaging Het
Ift172 G T 5: 31,433,238 (GRCm39) Y193* probably null Het
Ints1 A C 5: 139,744,226 (GRCm39) L1512* probably null Het
Kat2b A G 17: 53,970,597 (GRCm39) Q661R probably benign Het
Kat6a A G 8: 23,428,554 (GRCm39) N1303S possibly damaging Het
L3mbtl4 G T 17: 68,768,561 (GRCm39) R223L probably benign Het
Maml2 T C 9: 13,532,177 (GRCm39) probably benign Het
Mixl1 A G 1: 180,524,183 (GRCm39) probably null Het
Mocs1 T C 17: 49,759,887 (GRCm39) probably null Het
Ms4a15 T G 19: 10,962,236 (GRCm39) N36T probably damaging Het
Msr1 G A 8: 40,095,657 (GRCm39) T2I possibly damaging Het
Nlgn1 A C 3: 25,490,199 (GRCm39) Y509* probably null Het
Nsmce1 C A 7: 125,090,606 (GRCm39) G4C probably benign Het
Or4c113 A T 2: 88,885,490 (GRCm39) F93L probably damaging Het
Or51v15-ps1 A G 7: 103,278,918 (GRCm39) V83A probably damaging Het
Pan3 G A 5: 147,483,175 (GRCm39) G452D probably damaging Het
Pcyox1 G T 6: 86,365,891 (GRCm39) P441H probably damaging Het
Phf12 T C 11: 77,904,099 (GRCm39) V273A probably damaging Het
Plcd4 A G 1: 74,591,148 (GRCm39) E181G possibly damaging Het
Ptgfr A T 3: 151,541,178 (GRCm39) I110N possibly damaging Het
Rab40c A C 17: 26,138,458 (GRCm39) V8G probably damaging Het
Rasal3 T A 17: 32,615,458 (GRCm39) Y460F probably damaging Het
Rhbdf2 A G 11: 116,494,477 (GRCm39) probably null Het
Ryr2 T A 13: 11,839,286 (GRCm39) N496Y possibly damaging Het
Sacs A T 14: 61,450,451 (GRCm39) I4166F probably damaging Het
Sh2d3c T C 2: 32,611,172 (GRCm39) M1T probably null Het
Smarca2 C T 19: 26,646,555 (GRCm39) S651L possibly damaging Het
Sned1 A T 1: 93,213,540 (GRCm39) R1204S possibly damaging Het
Spata31d1b T C 13: 59,860,249 (GRCm39) Y41H probably damaging Het
Stab2 C T 10: 86,694,016 (GRCm39) C2075Y probably damaging Het
Tcte1 A T 17: 45,844,294 (GRCm39) Q90L possibly damaging Het
Tll2 C T 19: 41,074,679 (GRCm39) G945S probably damaging Het
Tnfrsf19 A T 14: 61,242,667 (GRCm39) C72* probably null Het
Usp17le T A 7: 104,417,640 (GRCm39) T501S probably benign Het
Wnt5b T A 6: 119,425,217 (GRCm39) probably benign 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
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
R9709:Tmbim7 UTSW 5 3,711,809 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGGAGAAACAGGCTGCTGAC -3'
(R):5'- GTGGTCTGTGTAACAAGAAGC -3'

Sequencing Primer
(F):5'- AGACCATTCTGGAAGGCCTG -3'
(R):5'- CTGTGTAACAAGAAGCTGGGAGTTG -3'
Posted On 2019-05-13