Incidental Mutation 'R1571:Tmem109'
ID 186239
Institutional Source Beutler Lab
Gene Symbol Tmem109
Ensembl Gene ENSMUSG00000034659
Gene Name transmembrane protein 109
Synonyms MG23, 1110006I15Rik, mitsugumin23
MMRRC Submission 039610-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1571 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 10848021-10859107 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10849993 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 100 (S100P)
Ref Sequence ENSEMBL: ENSMUSP00000120662 (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: S100P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039529
Gene: ENSMUSG00000034659
AA Change: S100P

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: S100P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120261
Gene: ENSMUSG00000034659
AA Change: S100P

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
Pfam:BRI3BP 54 213 8.1e-65 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000147699
AA Change: S100P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120662
Gene: ENSMUSG00000034659
AA Change: S100P

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
Pfam:BRI3BP 54 115 1.7e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138897
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: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.8%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610524H06Rik A G 5: 114,961,372 (GRCm39) probably null Het
Abcd3 T C 3: 121,586,491 (GRCm39) I70V possibly damaging Het
Acad10 T C 5: 121,759,411 (GRCm39) Y1024C probably damaging Het
Atp2b3 T G X: 72,588,712 (GRCm39) V701G probably damaging Het
Cbfa2t2 T A 2: 154,342,347 (GRCm39) M21K probably damaging Het
Cdc25a C T 9: 109,710,614 (GRCm39) T106I possibly damaging Het
Cdhr5 T C 7: 140,852,083 (GRCm39) T190A probably damaging Het
Chl1 A G 6: 103,685,445 (GRCm39) T829A probably benign Het
Clcn6 T C 4: 148,097,226 (GRCm39) T614A possibly damaging Het
Cntln A T 4: 84,865,823 (GRCm39) R160* probably null Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Dock3 C A 9: 106,815,158 (GRCm39) M1236I possibly damaging Het
Eif4g3 T A 4: 137,847,719 (GRCm39) H213Q probably damaging Het
Eya1 T A 1: 14,279,141 (GRCm39) H372L probably damaging Het
Fam13b A G 18: 34,630,485 (GRCm39) V91A possibly damaging Het
Hat1 T A 2: 71,264,519 (GRCm39) I319K probably benign Het
Kcnf1 T C 12: 17,225,853 (GRCm39) N123D probably benign Het
Kcns3 C A 12: 11,141,551 (GRCm39) G383W probably damaging Het
Kprp A T 3: 92,732,689 (GRCm39) C120* probably null Het
Lama3 T A 18: 12,672,774 (GRCm39) C2456S probably damaging Het
Lrp1b A T 2: 41,366,658 (GRCm39) D539E probably damaging Het
Matn3 T C 12: 9,005,466 (GRCm39) L292S probably damaging Het
Mbd3l1 T A 9: 18,395,947 (GRCm39) I24N probably damaging Het
Med10 T C 13: 69,958,159 (GRCm39) L37P probably damaging Het
Mrc1 A T 2: 14,313,544 (GRCm39) H925L probably damaging Het
Myo15a T A 11: 60,409,290 (GRCm39) I3219N probably damaging Het
Nom1 C T 5: 29,647,633 (GRCm39) Q623* probably null Het
Nrm T A 17: 36,175,079 (GRCm39) W136R probably damaging Het
Or8h8 A C 2: 86,753,789 (GRCm39) V29G probably benign Het
Pde7b T C 10: 20,288,836 (GRCm39) N298S probably benign Het
Piezo2 C T 18: 63,277,990 (GRCm39) A305T possibly damaging Het
Pimreg T C 11: 71,936,042 (GRCm39) L175P possibly damaging Het
Pkhd1l1 A G 15: 44,390,237 (GRCm39) D1451G probably benign Het
Ptpro A G 6: 137,355,128 (GRCm39) S212G probably benign Het
Rhpn1 C T 15: 75,585,967 (GRCm39) R627C possibly damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rnase4 T G 14: 51,342,497 (GRCm39) F74V probably damaging Het
Sbno2 A G 10: 79,896,226 (GRCm39) probably null Het
Selp T C 1: 163,954,176 (GRCm39) Y159H probably damaging Het
Senp6 A G 9: 80,000,853 (GRCm39) T21A probably damaging Het
Slco1a7 A T 6: 141,700,135 (GRCm39) C132* probably null Het
Slco3a1 T C 7: 74,154,128 (GRCm39) D148G possibly damaging Het
Smtn G A 11: 3,480,102 (GRCm39) P373L probably benign Het
Snx20 A T 8: 89,356,597 (GRCm39) L73Q probably damaging Het
Sobp A G 10: 43,033,942 (GRCm39) V128A possibly damaging Het
Tcerg1 A G 18: 42,657,357 (GRCm39) T280A unknown Het
Tgfbrap1 A G 1: 43,088,973 (GRCm39) V810A probably benign Het
Thbs1 C A 2: 117,949,678 (GRCm39) D589E probably damaging Het
Tjp2 A G 19: 24,078,239 (GRCm39) Y885H probably damaging Het
Trim36 T C 18: 46,305,562 (GRCm39) K462E probably benign Het
Vmn1r226 A T 17: 20,908,538 (GRCm39) I257F probably damaging Het
Vmn2r92 A G 17: 18,372,352 (GRCm39) Y54C probably damaging Het
Wdcp T A 12: 4,901,924 (GRCm39) Y593* probably null Het
Wdr59 T C 8: 112,177,682 (GRCm39) S907G 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
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
R6708:Tmem109 UTSW 19 10,849,395 (GRCm39) missense probably damaging 1.00
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'- CAAAGGCATAGCCCATCCTTACAGG -3'
(R):5'- GACCCATTTCCACTGGGGAAGAAAC -3'

Sequencing Primer
(F):5'- AGGTGGTAAGAATCTCTAGCCTCC -3'
(R):5'- AAACAGGGCAGAGACTTCC -3'
Posted On 2014-05-09