Incidental Mutation 'R5711:Tmem125'
ID 501436
Institutional Source Beutler Lab
Gene Symbol Tmem125
Ensembl Gene ENSMUSG00000050854
Gene Name transmembrane protein 125
Synonyms 6330530A05Rik
MMRRC Submission 043185-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R5711 (G1)
Quality Score 213
Status Not validated
Chromosome 4
Chromosomal Location 118398138-118401241 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 118399216 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 72 (C72S)
Ref Sequence ENSEMBL: ENSMUSP00000117871 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060214] [ENSMUST00000128098] [ENSMUST00000150044] [ENSMUST00000156191]
AlphaFold Q8CHQ6
Predicted Effect probably damaging
Transcript: ENSMUST00000060214
AA Change: C72S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000063157
Gene: ENSMUSG00000050854
AA Change: C72S

DomainStartEndE-ValueType
Pfam:TMEM125 15 125 1.7e-55 PFAM
transmembrane domain 143 165 N/A INTRINSIC
low complexity region 191 204 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000128098
AA Change: C72S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000115304
Gene: ENSMUSG00000050854
AA Change: C72S

DomainStartEndE-ValueType
Pfam:TMEM125 14 125 4.5e-58 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000150044
AA Change: C72S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000117871
Gene: ENSMUSG00000050854
AA Change: C72S

DomainStartEndE-ValueType
Pfam:TMEM125 14 72 2e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154025
Predicted Effect probably benign
Transcript: ENSMUST00000156191
SMART Domains Protein: ENSMUSP00000117286
Gene: ENSMUSG00000050854

DomainStartEndE-ValueType
Pfam:TMEM125 14 55 4.7e-21 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak6 A T 13: 100,790,722 (GRCm39) T18S probably damaging Het
Aqp7 G A 4: 41,035,510 (GRCm39) T115I probably benign Het
Arhgap19 A G 19: 41,773,227 (GRCm39) V275A possibly damaging Het
Cebpz T A 17: 79,242,040 (GRCm39) Q538L probably damaging Het
Chgb A T 2: 132,634,618 (GRCm39) I187F probably benign Het
Cldn1 C A 16: 26,190,167 (GRCm39) L70F probably damaging Het
Crybg2 A T 4: 133,809,938 (GRCm39) D1230V probably damaging Het
Csmd1 C T 8: 16,003,703 (GRCm39) C2617Y probably damaging Het
D7Ertd443e T A 7: 133,951,110 (GRCm39) N188Y probably benign Het
Ddx51 A G 5: 110,802,790 (GRCm39) I214M probably benign Het
Dlg5 A G 14: 24,200,716 (GRCm39) V1328A probably damaging Het
Dnah2 C T 11: 69,326,216 (GRCm39) C3639Y probably damaging Het
Dync1i2 C T 2: 71,081,326 (GRCm39) T511I probably benign Het
Fam220a A T 5: 143,549,212 (GRCm39) E208V probably damaging Het
Gm4846 T C 1: 166,311,594 (GRCm39) S422G probably benign Het
Grin2c C T 11: 115,141,115 (GRCm39) R1001Q probably benign Het
H2-T3 T C 17: 36,498,301 (GRCm39) E248G probably damaging Het
Idi2 T C 13: 9,008,518 (GRCm39) V92A probably benign Het
Iqcd C T 5: 120,740,571 (GRCm39) Q301* probably null Het
Klhl26 T C 8: 70,904,974 (GRCm39) D278G probably damaging Het
Mok G T 12: 110,774,503 (GRCm39) T228K probably damaging Het
Or1e22 A G 11: 73,377,008 (GRCm39) I214T probably damaging Het
Otogl G A 10: 107,612,978 (GRCm39) silent Het
Pabpc1 T C 15: 36,606,074 (GRCm39) I101V probably benign Het
Ppargc1a G T 5: 51,631,562 (GRCm39) Q356K probably damaging Het
Ptprt T A 2: 161,652,524 (GRCm39) D608V probably damaging Het
Rxfp1 C T 3: 79,586,054 (GRCm39) C96Y probably damaging Het
Scn11a A C 9: 119,618,990 (GRCm39) V784G probably damaging Het
Septin4 T C 11: 87,458,723 (GRCm39) S366P probably benign Het
Slc12a8 A G 16: 33,410,679 (GRCm39) Y226C probably damaging Het
Slc25a33 A G 4: 149,846,914 (GRCm39) V49A possibly damaging Het
Slc25a45 T C 19: 5,934,451 (GRCm39) S140P probably benign Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Spty2d1 G T 7: 46,647,845 (GRCm39) N361K possibly damaging Het
Stk4 G A 2: 163,941,674 (GRCm39) A297T probably benign Het
Thsd7b T A 1: 129,688,139 (GRCm39) N683K probably damaging Het
Tln2 T C 9: 67,299,829 (GRCm39) E141G probably benign Het
Ttn G T 2: 76,572,437 (GRCm39) T26152K probably damaging Het
Uhrf1 G A 17: 56,627,259 (GRCm39) G643D possibly damaging Het
Vmn2r50 C T 7: 9,774,299 (GRCm39) M532I possibly damaging Het
Other mutations in Tmem125
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01479:Tmem125 APN 4 118,398,820 (GRCm39) nonsense probably null
R0026:Tmem125 UTSW 4 118,399,270 (GRCm39) missense possibly damaging 0.85
R1876:Tmem125 UTSW 4 118,399,101 (GRCm39) missense probably damaging 1.00
R9243:Tmem125 UTSW 4 118,399,089 (GRCm39) missense probably damaging 1.00
Z1177:Tmem125 UTSW 4 118,399,036 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TAATGCCCACAGACAGCATGG -3'
(R):5'- AGTGATCCTCTGTCCTGACC -3'

Sequencing Primer
(F):5'- ACAGCATGGCAGCCAGTG -3'
(R):5'- ATGTCCCAGCAAGCCTCAGTG -3'
Posted On 2017-12-01