Incidental Mutation 'R2050:Tmem129'
ID 226321
Institutional Source Beutler Lab
Gene Symbol Tmem129
Ensembl Gene ENSMUSG00000019295
Gene Name transmembrane protein 129
Synonyms 0610039G24Rik, 2410015J15Rik
MMRRC Submission 040057-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2050 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 33810560-33815321 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 33815126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 16 (A16S)
Ref Sequence ENSEMBL: ENSMUSP00000019439 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019439] [ENSMUST00000074849] [ENSMUST00000079534] [ENSMUST00000114426] [ENSMUST00000201633] [ENSMUST00000200849] [ENSMUST00000152847]
AlphaFold Q8K304
Predicted Effect probably benign
Transcript: ENSMUST00000019439
AA Change: A16S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000019439
Gene: ENSMUSG00000019295
AA Change: A16S

DomainStartEndE-ValueType
Pfam:Tmpp129 17 361 6.8e-146 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000074849
SMART Domains Protein: ENSMUSP00000074394
Gene: ENSMUSG00000037313

DomainStartEndE-ValueType
low complexity region 127 143 N/A INTRINSIC
internal_repeat_1 144 212 2.67e-29 PROSPERO
internal_repeat_1 240 308 2.67e-29 PROSPERO
Pfam:TACC 435 631 2.6e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000079534
SMART Domains Protein: ENSMUSP00000078491
Gene: ENSMUSG00000037313

DomainStartEndE-ValueType
low complexity region 127 143 N/A INTRINSIC
internal_repeat_1 144 212 2.48e-29 PROSPERO
internal_repeat_1 240 308 2.48e-29 PROSPERO
Pfam:TACC 427 629 2.1e-73 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114426
SMART Domains Protein: ENSMUSP00000110069
Gene: ENSMUSG00000037313

DomainStartEndE-ValueType
low complexity region 127 143 N/A INTRINSIC
internal_repeat_1 144 212 2.48e-29 PROSPERO
internal_repeat_1 240 308 2.48e-29 PROSPERO
Pfam:TACC 427 629 2.1e-73 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125527
SMART Domains Protein: ENSMUSP00000115390
Gene: ENSMUSG00000019295

DomainStartEndE-ValueType
Pfam:Tmpp129 17 71 1e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139453
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202708
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140931
SMART Domains Protein: ENSMUSP00000114809
Gene: ENSMUSG00000019295

DomainStartEndE-ValueType
Pfam:Tmpp129 17 71 1e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201633
SMART Domains Protein: ENSMUSP00000144567
Gene: ENSMUSG00000037313

DomainStartEndE-ValueType
low complexity region 17 33 N/A INTRINSIC
internal_repeat_1 34 102 8.87e-21 PROSPERO
internal_repeat_1 130 198 8.87e-21 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000200849
SMART Domains Protein: ENSMUSP00000144662
Gene: ENSMUSG00000019295

DomainStartEndE-ValueType
Pfam:Tmpp129 1 73 1.4e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152847
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap2 G T 10: 126,916,130 (GRCm39) E214* probably null Het
Angpt2 G T 8: 18,755,673 (GRCm39) P265T probably benign Het
Apc2 C A 10: 80,143,443 (GRCm39) probably null Het
Arpc1b C T 5: 145,062,729 (GRCm39) P250S probably damaging Het
Atxn10 T G 15: 85,249,513 (GRCm39) V115G probably benign Het
Bace2 T A 16: 97,213,336 (GRCm39) C100S probably damaging Het
Bpifb9b T C 2: 154,151,524 (GRCm39) S82P possibly damaging Het
Cacna1g A G 11: 94,300,300 (GRCm39) S2157P probably damaging Het
Cacnb4 T A 2: 52,359,598 (GRCm39) I104L probably damaging Het
Ccdc121 T C 5: 31,643,402 (GRCm39) I44T possibly damaging Het
Cdh6 T A 15: 13,057,587 (GRCm39) M245L probably benign Het
Celsr1 A C 15: 85,914,748 (GRCm39) V1075G probably benign Het
Cfap61 T C 2: 145,987,393 (GRCm39) F1065L probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Colgalt1 T C 8: 72,070,330 (GRCm39) probably null Het
Ctnnal1 A T 4: 56,835,350 (GRCm39) V309D probably benign Het
D7Ertd443e T A 7: 133,868,527 (GRCm39) E659D probably damaging Het
Dab2 T C 15: 6,464,696 (GRCm39) Y516H possibly damaging Het
Dnah14 T C 1: 181,580,127 (GRCm39) L3099P probably damaging Het
Frem3 A G 8: 81,341,520 (GRCm39) E1271G probably damaging Het
Grap2 A G 15: 80,530,444 (GRCm39) H188R probably benign Het
Grin2c T C 11: 115,148,245 (GRCm39) D344G possibly damaging Het
Hmcn2 T C 2: 31,225,448 (GRCm39) M119T probably damaging Het
Hsd11b2 A G 8: 106,249,992 (GRCm39) I368V probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ifit1bl2 T A 19: 34,596,870 (GRCm39) N249Y possibly damaging Het
Igsf8 T A 1: 172,146,432 (GRCm39) Y36N probably damaging Het
Lrp12 G A 15: 39,735,985 (GRCm39) S649L probably damaging Het
Map2 T C 1: 66,453,473 (GRCm39) S788P probably damaging Het
Mast4 T C 13: 102,887,917 (GRCm39) D1164G probably damaging Het
Mcm9 A G 10: 53,488,921 (GRCm39) probably null Het
Myo5a G A 9: 75,054,156 (GRCm39) E355K probably benign Het
Myo9b T A 8: 71,743,194 (GRCm39) V85E probably damaging Het
Nbeal1 G A 1: 60,332,123 (GRCm39) probably null Het
Nlrx1 A T 9: 44,174,077 (GRCm39) W375R probably damaging Het
Pik3c2a A G 7: 116,016,686 (GRCm39) probably null Het
Plch2 A G 4: 155,085,275 (GRCm39) M272T probably benign Het
Plk4 T A 3: 40,764,815 (GRCm39) M603K probably benign Het
Rfx7 T A 9: 72,524,748 (GRCm39) V646E probably benign Het
Slc28a2b T C 2: 122,353,349 (GRCm39) S510P probably benign Het
Slc9a1 A G 4: 133,143,645 (GRCm39) H377R probably benign Het
Snrnp70 A C 7: 45,036,724 (GRCm39) Y61* probably null Het
Spatc1l T C 10: 76,399,892 (GRCm39) L138P probably damaging Het
Spink5 T C 18: 44,140,825 (GRCm39) probably null Het
Sptan1 T A 2: 29,892,250 (GRCm39) S1055T probably benign Het
Tas2r104 T A 6: 131,662,083 (GRCm39) M209L probably damaging Het
Tdrd12 C T 7: 35,228,672 (GRCm39) V17I probably damaging Het
Tmtc1 T C 6: 148,164,381 (GRCm39) E584G probably damaging Het
Trank1 C A 9: 111,193,856 (GRCm39) H627N probably damaging Het
Trio T C 15: 27,852,031 (GRCm39) D820G possibly damaging Het
Trpt1 T A 19: 6,975,452 (GRCm39) N98K probably damaging Het
Ube4b A T 4: 149,429,069 (GRCm39) F857I probably damaging Het
Vmn2r45 A G 7: 8,475,021 (GRCm39) V669A probably damaging Het
Vmn2r71 A G 7: 85,273,681 (GRCm39) I832V probably damaging Het
Zbtb20 T A 16: 43,429,975 (GRCm39) probably null Het
Zfyve9 A C 4: 108,575,800 (GRCm39) M427R probably benign Het
Zfyve9 A T 4: 108,576,500 (GRCm39) F194I possibly damaging Het
Other mutations in Tmem129
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03048:Tmem129 UTSW 5 33,812,811 (GRCm39) missense possibly damaging 0.90
R0336:Tmem129 UTSW 5 33,812,946 (GRCm39) missense probably damaging 1.00
R0972:Tmem129 UTSW 5 33,812,112 (GRCm39) missense possibly damaging 0.63
R1559:Tmem129 UTSW 5 33,815,100 (GRCm39) splice site probably null
R1869:Tmem129 UTSW 5 33,811,843 (GRCm39) missense probably damaging 1.00
R1967:Tmem129 UTSW 5 33,812,665 (GRCm39) critical splice donor site probably null
R5208:Tmem129 UTSW 5 33,812,850 (GRCm39) missense probably damaging 1.00
R5802:Tmem129 UTSW 5 33,815,060 (GRCm39) missense probably damaging 0.98
R7744:Tmem129 UTSW 5 33,811,732 (GRCm39) missense probably damaging 1.00
R8537:Tmem129 UTSW 5 33,812,920 (GRCm39) missense possibly damaging 0.65
R8859:Tmem129 UTSW 5 33,811,837 (GRCm39) missense probably benign 0.12
R9495:Tmem129 UTSW 5 33,815,122 (GRCm39) missense probably benign 0.02
R9514:Tmem129 UTSW 5 33,815,122 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- AGTTCCTCACCCTTGGAGTC -3'
(R):5'- TTCCTAGAATGCTTTGCGGG -3'

Sequencing Primer
(F):5'- TCTCCAAGCGCCCGGTTAAG -3'
(R):5'- TCAGATTCGCAGGATGCC -3'
Posted On 2014-09-17