Incidental Mutation 'R6708:Tmem109'
ID 529028
Institutional Source Beutler Lab
Gene Symbol Tmem109
Ensembl Gene ENSMUSG00000034659
Gene Name transmembrane protein 109
Synonyms MG23, 1110006I15Rik, mitsugumin23
MMRRC Submission 044826-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6708 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 10848021-10859107 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 10849395 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 153 (L153F)
Ref Sequence ENSEMBL: ENSMUSP00000039529 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025645] [ENSMUST00000038128] [ENSMUST00000120524] [ENSMUST00000128835] [ENSMUST00000133303] [ENSMUST00000147699] [ENSMUST00000144681]
AlphaFold Q3UBX0
Predicted Effect probably benign
Transcript: ENSMUST00000025645
SMART Domains Protein: ENSMUSP00000025645
Gene: ENSMUSG00000024736

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Pfam:TMEM132D_N 44 167 1.6e-35 PFAM
low complexity region 206 223 N/A INTRINSIC
Pfam:TMEM132 403 745 4.1e-108 PFAM
low complexity region 759 776 N/A INTRINSIC
Pfam:TMEM132D_C 809 897 1.5e-31 PFAM
low complexity region 906 923 N/A INTRINSIC
low complexity region 932 944 N/A INTRINSIC
low complexity region 960 976 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000038128
AA Change: L153F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039529
Gene: ENSMUSG00000034659
AA Change: L153F

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
Pfam:BRI3BP 57 231 9.9e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120524
SMART Domains Protein: ENSMUSP00000113696
Gene: ENSMUSG00000024736

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
low complexity region 206 223 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128835
SMART Domains Protein: ENSMUSP00000122130
Gene: ENSMUSG00000034659

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129052
Predicted Effect probably damaging
Transcript: ENSMUST00000133303
AA Change: L153F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120261
Gene: ENSMUSG00000034659
AA Change: L153F

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
Pfam:BRI3BP 54 213 8.1e-65 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138897
Predicted Effect probably benign
Transcript: ENSMUST00000147699
SMART Domains Protein: ENSMUSP00000120662
Gene: ENSMUSG00000034659

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
Pfam:BRI3BP 54 115 1.7e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144681
SMART Domains Protein: ENSMUSP00000116750
Gene: ENSMUSG00000034659

DomainStartEndE-ValueType
signal peptide 1 47 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are viable, overtly normal and exhibit normal thymocyte maturation; however, mutant thymocytes are less sensitive to DNA damage caused by gamma-irradiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 T C 8: 41,249,531 (GRCm39) L547P probably damaging Het
Atp8b5 T G 4: 43,334,249 (GRCm39) H338Q probably benign Het
Btbd3 A G 2: 138,125,491 (GRCm39) E225G possibly damaging Het
Cd163 A G 6: 124,286,167 (GRCm39) H239R probably damaging Het
Cdh15 T C 8: 123,590,294 (GRCm39) I409T probably benign Het
Cep55 T A 19: 38,048,709 (GRCm39) S122T probably benign Het
Col5a3 G A 9: 20,686,331 (GRCm39) P1382L unknown Het
Ehmt2 A T 17: 35,118,875 (GRCm39) K186* probably null Het
Elavl2 A T 4: 91,141,634 (GRCm39) I295N probably damaging Het
Elf5 A G 2: 103,279,334 (GRCm39) D185G probably damaging Het
Emx1 A G 6: 85,171,122 (GRCm39) E175G probably damaging Het
Fan1 T G 7: 64,022,554 (GRCm39) N233T probably benign Het
Frem2 T A 3: 53,492,922 (GRCm39) I1865F probably benign Het
Kcnu1 A G 8: 26,427,739 (GRCm39) D352G probably benign Het
Klhdc1 A T 12: 69,306,304 (GRCm39) H247L possibly damaging Het
L3mbtl4 A T 17: 68,937,253 (GRCm39) T425S probably benign Het
Mrpl21 T C 19: 3,336,890 (GRCm39) V87A probably damaging Het
Or4d11 A T 19: 12,014,103 (GRCm39) M1K probably null Het
Or5ac21 T A 16: 59,124,416 (GRCm39) L301Q probably damaging Het
Or6c215 G T 10: 129,637,689 (GRCm39) A235D probably damaging Het
Orc4 A T 2: 48,827,505 (GRCm39) H29Q probably benign Het
Pcnx2 C T 8: 126,587,692 (GRCm39) probably null Het
Pogk A G 1: 166,231,078 (GRCm39) V83A probably damaging Het
Synm T C 7: 67,382,994 (GRCm39) E1556G possibly damaging Het
Ttc8 A G 12: 98,909,791 (GRCm39) T74A probably damaging Het
Zfp180 A T 7: 23,805,521 (GRCm39) T647S probably damaging Het
Other mutations in Tmem109
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03003:Tmem109 APN 19 10,851,695 (GRCm39) missense probably benign 0.27
R0882:Tmem109 UTSW 19 10,849,205 (GRCm39) missense possibly damaging 0.91
R1221:Tmem109 UTSW 19 10,851,733 (GRCm39) missense possibly damaging 0.88
R1571:Tmem109 UTSW 19 10,849,993 (GRCm39) missense probably damaging 1.00
R5437:Tmem109 UTSW 19 10,849,378 (GRCm39) missense probably damaging 1.00
R6367:Tmem109 UTSW 19 10,851,727 (GRCm39) missense possibly damaging 0.66
R7422:Tmem109 UTSW 19 10,849,124 (GRCm39) makesense probably null
R7867:Tmem109 UTSW 19 10,855,466 (GRCm39) missense unknown
R8545:Tmem109 UTSW 19 10,851,734 (GRCm39) nonsense probably null
R8796:Tmem109 UTSW 19 10,849,995 (GRCm39) missense probably damaging 1.00
R8890:Tmem109 UTSW 19 10,849,235 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CAGCTCTTTGGTACGGTGAG -3'
(R):5'- TGCCCTCACCACATTGCTAG -3'

Sequencing Primer
(F):5'- TCACCTTGGCTTCCAGGTGG -3'
(R):5'- ACCACATTGCTAGATTGCTGAC -3'
Posted On 2018-07-24