Incidental Mutation 'R3896:Tmbim7'
ID 310535
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 040807-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R3896 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 3707004-3729865 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 3711916 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 54 (H54Y)
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: H54Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000014673
Gene: ENSMUSG00000014529
AA Change: H54Y

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: H17Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000117435
Gene: ENSMUSG00000014529
AA Change: H17Y

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: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (48/48)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503B20Rik A T 3: 146,356,868 (GRCm39) N13K possibly damaging Het
Alas1 G T 9: 106,119,000 (GRCm39) probably null Het
Arhgap20 A T 9: 51,728,137 (GRCm39) I117F probably damaging Het
Asz1 A G 6: 18,075,766 (GRCm39) I269T probably benign Het
Atp8a2 C A 14: 60,263,589 (GRCm39) probably null Het
Atp8b2 A T 3: 89,864,626 (GRCm39) I163K probably damaging Het
Casd1 T A 6: 4,640,980 (GRCm39) F700L probably damaging Het
Ccdc80 A G 16: 44,916,984 (GRCm39) D580G probably benign Het
Cog7 C T 7: 121,540,392 (GRCm39) probably benign Het
Cyp2c66 T C 19: 39,130,722 (GRCm39) V112A possibly damaging Het
D130040H23Rik T A 8: 69,755,610 (GRCm39) C356S probably damaging Het
Emb A G 13: 117,409,598 (GRCm39) *331W probably null Het
Enpp3 A C 10: 24,653,847 (GRCm39) S703R possibly damaging Het
Fam13b T C 18: 34,596,008 (GRCm39) probably benign Het
Foxp1 T A 6: 99,052,897 (GRCm39) Q97L probably benign Het
Gdf10 A T 14: 33,656,438 (GRCm39) N467Y probably damaging Het
Gm29394 C T 15: 57,912,024 (GRCm39) probably benign Het
Gsn T C 2: 35,192,650 (GRCm39) S522P possibly damaging Het
Hydin T A 8: 111,235,711 (GRCm39) F1899I possibly damaging Het
Ints1 C A 5: 139,743,399 (GRCm39) E1658* probably null Het
Jakmip2 A T 18: 43,682,751 (GRCm39) F691Y probably benign Het
Klhl28 A G 12: 65,004,333 (GRCm39) F60S probably damaging Het
Loxhd1 C T 18: 77,469,719 (GRCm39) S992L possibly damaging Het
Lrp1b A T 2: 40,812,440 (GRCm39) probably null Het
Macf1 A T 4: 123,364,987 (GRCm39) I3258N possibly damaging Het
Map4k2 G T 19: 6,391,958 (GRCm39) E91* probably null Het
Matcap1 T A 8: 106,009,920 (GRCm39) H343L probably benign Het
Myo1b A T 1: 51,812,420 (GRCm39) V739E probably damaging Het
Naa35 C T 13: 59,755,109 (GRCm39) T185I probably damaging Het
Or10v9 T C 19: 11,832,951 (GRCm39) D122G probably damaging Het
Or4c15b A G 2: 89,113,441 (GRCm39) F33S possibly damaging Het
Reg4 A T 3: 98,132,082 (GRCm39) probably benign Het
Rnaseh2b A C 14: 62,597,906 (GRCm39) probably benign Het
Rnf123 G A 9: 107,946,302 (GRCm39) probably benign Het
Scn8a A T 15: 100,933,379 (GRCm39) M1528L probably benign Het
Sdr16c5 T A 4: 4,006,609 (GRCm39) T228S probably damaging Het
Sgo2a T C 1: 58,052,805 (GRCm39) C202R probably damaging Het
Slc25a46 A G 18: 31,716,725 (GRCm39) L259P probably damaging Het
Slc4a4 A G 5: 89,345,625 (GRCm39) probably benign Het
Sox14 G T 9: 99,757,636 (GRCm39) H34Q probably damaging Het
Syna T A 5: 134,587,165 (GRCm39) K595* probably null Het
Taf4 A G 2: 179,573,807 (GRCm39) V687A probably benign Het
Vmn1r212 T C 13: 23,068,067 (GRCm39) M89V probably benign Het
Vmn1r86 T C 7: 12,836,093 (GRCm39) Y261C probably benign Het
Xkr4 A G 1: 3,286,414 (GRCm39) I592T probably damaging Het
Ywhah A G 5: 33,184,349 (GRCm39) Y184C probably damaging Het
Zkscan16 C T 4: 58,946,125 (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
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'- CAGGACATGAATGACAGGTTTTC -3'
(R):5'- GCAGCCTTTGACACATCTCATG -3'

Sequencing Primer
(F):5'- GAATGACAGGTTTTCTATTCCAGG -3'
(R):5'- TTCTGTCAGTACACACCATGG -3'
Posted On 2015-04-17