Incidental Mutation 'IGL01479:Tmem125'
ID88557
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem125
Ensembl Gene ENSMUSG00000050854
Gene Nametransmembrane protein 125
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.094) question?
Stock #IGL01479
Quality Score
Status
Chromosome4
Chromosomal Location118540941-118544044 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 118541623 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 204 (Q204*)
Ref Sequence ENSEMBL: ENSMUSP00000063157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060214] [ENSMUST00000128098] [ENSMUST00000150044] [ENSMUST00000156191]
Predicted Effect probably null
Transcript: ENSMUST00000060214
AA Change: Q204*
SMART Domains Protein: ENSMUSP00000063157
Gene: ENSMUSG00000050854
AA Change: Q204*

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 benign
Transcript: ENSMUST00000128098
SMART Domains Protein: ENSMUSP00000115304
Gene: ENSMUSG00000050854

DomainStartEndE-ValueType
Pfam:TMEM125 14 125 4.5e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150044
SMART Domains Protein: ENSMUSP00000117871
Gene: ENSMUSG00000050854

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c12 T C 13: 4,272,935 K225R probably benign Het
Amn C A 12: 111,271,793 A47E probably damaging Het
Arhgef1 T C 7: 24,912,603 I137T probably benign Het
Cep57l1 T C 10: 41,728,639 K165E possibly damaging Het
Chfr A G 5: 110,144,993 probably benign Het
Dnah9 A G 11: 65,955,717 V2923A probably benign Het
Dnaja2 T C 8: 85,553,951 Y35C probably damaging Het
Dnajc2 T C 5: 21,757,893 T481A probably damaging Het
Foxred2 A G 15: 77,952,289 probably null Het
Gin1 C T 1: 97,792,372 T364I possibly damaging Het
Glt8d2 C T 10: 82,660,736 V163I probably damaging Het
Gm10118 T C 10: 63,926,820 probably benign Het
Hps5 C T 7: 46,762,942 probably null Het
Kdm4c A G 4: 74,343,501 K638E probably benign Het
L3mbtl2 A G 15: 81,676,392 T285A probably benign Het
Mab21l1 A G 3: 55,783,832 Y280C probably damaging Het
Mcoln2 T A 3: 146,175,652 probably benign Het
Myo9b G T 8: 71,359,342 R1926L probably damaging Het
Rrp12 A G 19: 41,865,202 V1251A probably benign Het
Rtn4rl1 A G 11: 75,265,342 D200G probably damaging Het
Sbsn G A 7: 30,752,357 A266T possibly damaging Het
Sgca A T 11: 94,963,378 C335* probably null Het
Spag1 T C 15: 36,233,199 probably benign Het
Sult6b1 A T 17: 78,905,576 V82D probably benign Het
Tigit T C 16: 43,659,522 T137A probably benign Het
Tmem59l C T 8: 70,486,098 R111Q probably benign Het
Vmn2r95 G A 17: 18,443,862 G448R probably damaging Het
Zfp64 T C 2: 168,951,679 H49R probably damaging Het
Other mutations in Tmem125
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0026:Tmem125 UTSW 4 118542073 missense possibly damaging 0.85
R1876:Tmem125 UTSW 4 118541904 missense probably damaging 1.00
R5711:Tmem125 UTSW 4 118542019 missense probably damaging 1.00
Posted On2013-11-18