Incidental Mutation 'R5361:Tmbim6'
ID 422828
Institutional Source Beutler Lab
Gene Symbol Tmbim6
Ensembl Gene ENSMUSG00000023010
Gene Name transmembrane BAX inhibitor motif containing 6
Synonyms Tegt, Bax inhibitor 1
MMRRC Submission 042940-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.471) question?
Stock # R5361 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 99290828-99307930 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 99303633 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 108 (A108T)
Ref Sequence ENSEMBL: ENSMUSP00000125091 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023749] [ENSMUST00000159209] [ENSMUST00000159531] [ENSMUST00000160635] [ENSMUST00000161250] [ENSMUST00000161778] [ENSMUST00000162624] [ENSMUST00000162274]
AlphaFold Q9D2C7
Predicted Effect probably benign
Transcript: ENSMUST00000023749
AA Change: A108T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000023749
Gene: ENSMUSG00000023010
AA Change: A108T

DomainStartEndE-ValueType
Pfam:Bax1-I 24 225 5.6e-45 PFAM
low complexity region 229 237 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159209
AA Change: A108T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000125117
Gene: ENSMUSG00000023010
AA Change: A108T

DomainStartEndE-ValueType
Pfam:Bax1-I 24 225 3.6e-42 PFAM
low complexity region 229 237 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159531
AA Change: A108T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000125318
Gene: ENSMUSG00000023010
AA Change: A108T

DomainStartEndE-ValueType
Pfam:Bax1-I 24 225 3.6e-42 PFAM
low complexity region 229 237 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160454
Predicted Effect probably benign
Transcript: ENSMUST00000160635
AA Change: A108T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000124651
Gene: ENSMUSG00000023010
AA Change: A108T

DomainStartEndE-ValueType
Pfam:Bax1-I 24 225 3.6e-42 PFAM
low complexity region 229 237 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161250
AA Change: A108T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000125563
Gene: ENSMUSG00000023010
AA Change: A108T

DomainStartEndE-ValueType
Pfam:Bax1-I 24 225 3.6e-42 PFAM
low complexity region 229 237 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161778
AA Change: A108T

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000124805
Gene: ENSMUSG00000023010
AA Change: A108T

DomainStartEndE-ValueType
Pfam:Bax1-I 24 225 1.1e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162624
AA Change: A108T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000125091
Gene: ENSMUSG00000023010
AA Change: A108T

DomainStartEndE-ValueType
Pfam:Bax1-I 24 204 4.8e-35 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000229392
AA Change: A65T
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231147
Predicted Effect probably benign
Transcript: ENSMUST00000162274
Predicted Effect probably benign
Transcript: ENSMUST00000231173
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutants display increased sensitivity to ischemic brain injury and ER stress-inducing xenobiotics. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik T A 9: 57,164,468 (GRCm39) K635N probably damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Ahnak T A 19: 8,992,705 (GRCm39) M4663K possibly damaging Het
C4b T A 17: 34,960,212 (GRCm39) T280S probably benign Het
Ccdc166 A G 15: 75,852,869 (GRCm39) V366A probably benign Het
Cdh23 A G 10: 60,493,044 (GRCm39) probably null Het
Col7a1 A G 9: 108,792,292 (GRCm39) T1281A unknown Het
Cul9 TTCCTCCTCCTCCTCCTCCTCCTC TTCCTCCTCCTCCTCCTCCTC 17: 46,811,775 (GRCm39) probably benign Het
Dbndd1 T A 8: 124,233,484 (GRCm39) D127V probably damaging Het
Ddx20 T A 3: 105,590,825 (GRCm39) E197V probably damaging Het
Dennd10 A G 19: 60,814,324 (GRCm39) M96V probably benign Het
Dnm3 A G 1: 161,838,471 (GRCm39) S826P probably damaging Het
Dnmt3a T C 12: 3,945,643 (GRCm39) V24A probably benign Het
Dop1b C A 16: 93,567,392 (GRCm39) A1273E probably damaging Het
Dsg1c T C 18: 20,416,703 (GRCm39) V868A possibly damaging Het
Dtx4 A G 19: 12,462,626 (GRCm39) probably null Het
Elovl4 A G 9: 83,672,154 (GRCm39) L55P possibly damaging Het
Fbxo40 T A 16: 36,789,914 (GRCm39) T399S possibly damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Gm14399 T C 2: 174,973,371 (GRCm39) E96G probably damaging Het
Gm14496 T G 2: 181,642,147 (GRCm39) V606G probably benign Het
Gpr156 A G 16: 37,826,087 (GRCm39) E768G probably damaging Het
Grm5 A T 7: 87,723,704 (GRCm39) T665S probably damaging Het
Hsdl2 A G 4: 59,592,301 (GRCm39) probably benign Het
Htt T C 5: 35,064,928 (GRCm39) V3047A possibly damaging Het
Igkv3-2 A T 6: 70,676,011 (GRCm39) T107S probably benign Het
Insyn2b G A 11: 34,352,788 (GRCm39) E277K probably damaging Het
Itih2 T A 2: 10,101,272 (GRCm39) T899S probably benign Het
Lhcgr T A 17: 89,050,281 (GRCm39) Y415F probably damaging Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Med4 C A 14: 73,747,553 (GRCm39) S18* probably null Het
Nefl T C 14: 68,322,088 (GRCm39) V226A probably damaging Het
Nploc4 T A 11: 120,275,389 (GRCm39) N516Y probably damaging Het
Or1o4 A G 17: 37,590,501 (GRCm39) V270A probably benign Het
Or6c66 A T 10: 129,461,601 (GRCm39) F110I probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcdha3 T G 18: 37,079,752 (GRCm39) L165V possibly damaging Het
Pcdhb12 T A 18: 37,570,099 (GRCm39) V415D probably damaging Het
Pcdhga10 T C 18: 37,880,503 (GRCm39) I88T probably damaging Het
Pigyl T A 9: 22,069,292 (GRCm39) M1K probably null Het
Prr27 T C 5: 87,991,203 (GRCm39) S272P probably damaging Het
Prss3 C T 6: 41,350,780 (GRCm39) D237N probably benign Het
Pstpip2 A G 18: 77,958,078 (GRCm39) D150G probably damaging Het
Robo4 T A 9: 37,324,674 (GRCm39) D909E probably benign Het
Serpinb3c A T 1: 107,204,661 (GRCm39) Y28* probably null Het
Slc26a3 T C 12: 31,500,980 (GRCm39) probably null Het
Slc6a1 A T 6: 114,279,493 (GRCm39) I91F probably benign Het
Smcr8 T G 11: 60,669,118 (GRCm39) Y89D probably damaging Het
Sspo T A 6: 48,443,247 (GRCm39) M1898K probably benign Het
Tbl1xr1 T A 3: 22,246,233 (GRCm39) I251K probably damaging Het
Thbs4 C T 13: 92,913,501 (GRCm39) D140N probably benign Het
Trim10 T G 17: 37,186,328 (GRCm39) L301R probably benign Het
Trpm7 A T 2: 126,671,161 (GRCm39) I607N possibly damaging Het
Vmn2r9 T A 5: 108,995,929 (GRCm39) I240F probably damaging Het
Xpot T A 10: 121,436,765 (GRCm39) I873F possibly damaging Het
Zfhx4 G A 3: 5,464,267 (GRCm39) S1475N probably damaging Het
Zfp712 A G 13: 67,189,079 (GRCm39) S483P possibly damaging Het
Zswim7 A T 11: 62,158,373 (GRCm39) H122Q probably benign Het
Other mutations in Tmbim6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01022:Tmbim6 APN 15 99,300,003 (GRCm39) missense possibly damaging 0.57
R0333:Tmbim6 UTSW 15 99,304,555 (GRCm39) missense probably damaging 1.00
R1440:Tmbim6 UTSW 15 99,300,004 (GRCm39) missense probably damaging 0.98
R1457:Tmbim6 UTSW 15 99,299,496 (GRCm39) missense probably benign 0.27
R2092:Tmbim6 UTSW 15 99,299,949 (GRCm39) missense probably damaging 1.00
R2282:Tmbim6 UTSW 15 99,302,407 (GRCm39) missense probably damaging 1.00
R4989:Tmbim6 UTSW 15 99,299,950 (GRCm39) nonsense probably null
R6364:Tmbim6 UTSW 15 99,304,066 (GRCm39) missense probably damaging 0.99
R6755:Tmbim6 UTSW 15 99,300,034 (GRCm39) missense probably benign 0.03
R7471:Tmbim6 UTSW 15 99,299,324 (GRCm39) intron probably benign
R9411:Tmbim6 UTSW 15 99,304,501 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACGTGCATGGTTTTGAGCTC -3'
(R):5'- AGCCTGTTTCCAGTCCATAC -3'

Sequencing Primer
(F):5'- CATGGTTTTGAGCTCAGAGGAC -3'
(R):5'- TCCTAAAAACAGGTAGCTCCGG -3'
Posted On 2016-08-04