Incidental Mutation 'R2879:Tmem121'
ID 260247
Institutional Source Beutler Lab
Gene Symbol Tmem121
Ensembl Gene ENSMUSG00000049036
Gene Name transmembrane protein 121
Synonyms 2410008J05Rik, Hole
MMRRC Submission 040467-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.123) question?
Stock # R2879 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 113149550-113153143 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 113152028 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 82 (Y82C)
Ref Sequence ENSEMBL: ENSMUSP00000055994 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058491]
AlphaFold Q80XA0
Predicted Effect probably damaging
Transcript: ENSMUST00000058491
AA Change: Y82C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000055994
Gene: ENSMUSG00000049036
AA Change: Y82C

DomainStartEndE-ValueType
transmembrane domain 13 30 N/A INTRINSIC
transmembrane domain 40 62 N/A INTRINSIC
Pfam:CECR6_TMEM121 73 267 3.1e-62 PFAM
low complexity region 275 309 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 G C 17: 24,508,481 (GRCm39) T1018R probably damaging Het
Acte1 T A 7: 143,447,800 (GRCm39) Y214* probably null Het
Akap9 A G 5: 4,026,353 (GRCm39) probably benign Het
Ankrd29 G A 18: 12,387,757 (GRCm39) A275V possibly damaging Het
Ano6 T A 15: 95,841,308 (GRCm39) C468* probably null Het
Arhgef10l G T 4: 140,242,598 (GRCm39) H890Q probably benign Het
Ccnj T A 19: 40,833,158 (GRCm39) L112Q probably damaging Het
Chaf1a T C 17: 56,351,114 (GRCm39) probably null Het
Chchd4 A G 6: 91,442,200 (GRCm39) S73P probably damaging Het
Chd3 T C 11: 69,254,924 (GRCm39) K139E possibly damaging Het
Cyp2b13 T G 7: 25,785,456 (GRCm39) probably null Het
Dagla T C 19: 10,248,448 (GRCm39) I71V possibly damaging Het
Epor A T 9: 21,870,936 (GRCm39) W315R probably damaging Het
Etv1 T A 12: 38,833,809 (GRCm39) probably null Het
Fbn2 A T 18: 58,202,314 (GRCm39) C1280S probably damaging Het
Fbxo2 G C 4: 148,250,468 (GRCm39) R269P probably damaging Het
Fer1l4 A T 2: 155,894,120 (GRCm39) L61Q probably damaging Het
Ggnbp2 C T 11: 84,723,797 (GRCm39) probably null Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Ibsp G A 5: 104,458,260 (GRCm39) E266K possibly damaging Het
Lamb3 T A 1: 193,013,092 (GRCm39) M439K possibly damaging Het
Lnx1 C T 5: 74,780,784 (GRCm39) V246M probably benign Het
Lrrc32 A G 7: 98,148,984 (GRCm39) Q588R probably benign Het
Magi2 A AG 5: 20,807,459 (GRCm39) probably null Het
Med13 C T 11: 86,189,988 (GRCm39) A974T possibly damaging Het
Mogat2 A T 7: 98,871,573 (GRCm39) I246N possibly damaging Het
Myl2 T C 5: 122,242,748 (GRCm39) probably null Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or1p1c T A 11: 74,161,049 (GRCm39) V278D probably damaging Het
Osbpl8 T A 10: 111,105,297 (GRCm39) S251T probably benign Het
Pik3r2 A G 8: 71,225,029 (GRCm39) Y145H probably benign Het
Plg A G 17: 12,622,987 (GRCm39) E509G possibly damaging Het
Pnkp T A 7: 44,508,102 (GRCm39) S142T probably damaging Het
Ros1 C T 10: 52,048,936 (GRCm39) probably null Het
Sbno1 A G 5: 124,526,635 (GRCm39) M960T probably damaging Het
Smad1 T C 8: 80,080,084 (GRCm39) probably null Het
Ssc5d G A 7: 4,939,906 (GRCm39) probably null Het
Tfcp2 C T 15: 100,449,201 (GRCm39) probably null Het
Tmem131 T C 1: 36,880,788 (GRCm39) I161V possibly damaging Het
Tpp2 T A 1: 44,010,783 (GRCm39) F523L probably damaging Het
Ttn C T 2: 76,601,849 (GRCm39) silent Het
Ttpal A G 2: 163,457,503 (GRCm39) probably null Het
Vdr T A 15: 97,757,008 (GRCm39) Y288F probably benign Het
Wipf2 C T 11: 98,783,480 (GRCm39) A302V probably benign Het
Zfp346 T G 13: 55,253,163 (GRCm39) C3G possibly damaging Het
Other mutations in Tmem121
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00911:Tmem121 APN 12 113,151,851 (GRCm39) missense probably damaging 1.00
R4876:Tmem121 UTSW 12 113,152,348 (GRCm39) missense probably benign 0.01
R5518:Tmem121 UTSW 12 113,152,547 (GRCm39) missense possibly damaging 0.46
R7223:Tmem121 UTSW 12 113,152,114 (GRCm39) nonsense probably null
R7467:Tmem121 UTSW 12 113,152,690 (GRCm39) missense probably benign 0.25
R7767:Tmem121 UTSW 12 113,151,992 (GRCm39) missense probably damaging 1.00
R7857:Tmem121 UTSW 12 113,152,696 (GRCm39) missense possibly damaging 0.76
R8051:Tmem121 UTSW 12 113,152,487 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGATCATGGGCAGTATGGC -3'
(R):5'- ATGTCCAGCAGATCCAGCAG -3'

Sequencing Primer
(F):5'- GCAGTATGGCCGTCATGG -3'
(R):5'- CTTTCGGAAGGTGCGCACATATTC -3'
Posted On 2015-01-23