Incidental Mutation 'IGL01355:Tmem121b'
ID75498
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem121b
Ensembl Gene ENSMUSG00000094626
Gene Nametransmembrane protein 121B
SynonymsCecr6
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01355
Quality Score
Status
Chromosome6
Chromosomal Location120488939-120493807 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 120492466 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 430 (L430P)
Ref Sequence ENSEMBL: ENSMUSP00000135924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002976] [ENSMUST00000178687]
Predicted Effect probably benign
Transcript: ENSMUST00000002976
SMART Domains Protein: ENSMUSP00000002976
Gene: ENSMUSG00000002897

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Pfam:IL17R_fnIII_D1 48 198 1.3e-70 PFAM
Pfam:IL17R_fnIII_D2 199 303 9.6e-53 PFAM
transmembrane domain 321 343 N/A INTRINSIC
Pfam:SEFIR 380 539 1.5e-51 PFAM
low complexity region 747 765 N/A INTRINSIC
low complexity region 801 830 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000178687
AA Change: L430P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135924
Gene: ENSMUSG00000094626
AA Change: L430P

DomainStartEndE-ValueType
low complexity region 8 25 N/A INTRINSIC
low complexity region 33 73 N/A INTRINSIC
low complexity region 88 193 N/A INTRINSIC
low complexity region 196 215 N/A INTRINSIC
transmembrane domain 219 241 N/A INTRINSIC
low complexity region 253 271 N/A INTRINSIC
low complexity region 273 305 N/A INTRINSIC
Pfam:CECR6_TMEM121 308 512 3.6e-61 PFAM
low complexity region 521 550 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ajap1 C T 4: 153,386,481 V290I probably damaging Het
Ankrd12 A G 17: 65,970,340 probably benign Het
Anxa4 A T 6: 86,752,205 I140N probably damaging Het
Asap2 A G 12: 21,218,086 probably benign Het
Cd36 C T 5: 17,813,074 V214I possibly damaging Het
Col24a1 T C 3: 145,314,876 L336S probably benign Het
Dcc C T 18: 71,809,114 V311I probably benign Het
Gpr146 A T 5: 139,378,904 probably benign Het
Irf1 T C 11: 53,774,361 V188A probably benign Het
Limk1 G A 5: 134,657,900 probably benign Het
Mcidas T C 13: 112,999,069 F342S probably damaging Het
Mctp1 A G 13: 76,384,955 T141A probably benign Het
Mnd1 C A 3: 84,116,477 A101S probably benign Het
Nsun7 T C 5: 66,294,868 S466P probably damaging Het
Olfr1279 T A 2: 111,307,093 I296K probably benign Het
Olfr165 C T 16: 19,407,583 M145I probably benign Het
Olfr617 A G 7: 103,584,373 E117G probably damaging Het
Pik3c2g G T 6: 139,852,857 G371V probably damaging Het
Sdad1 A G 5: 92,302,679 V199A probably damaging Het
Spg11 C T 2: 122,113,156 V172I probably benign Het
Tas2r108 A G 6: 40,493,751 T54A possibly damaging Het
Traf3ip1 A G 1: 91,518,297 D384G probably damaging Het
Trank1 A G 9: 111,365,520 T871A possibly damaging Het
Vegfa T C 17: 46,025,421 M258V possibly damaging Het
Zbtb49 A G 5: 38,210,616 probably null Het
Other mutations in Tmem121b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02220:Tmem121b APN 6 120492337 missense probably damaging 1.00
R2256:Tmem121b UTSW 6 120492069 nonsense probably null
R2256:Tmem121b UTSW 6 120492071 missense probably damaging 1.00
R2257:Tmem121b UTSW 6 120492069 nonsense probably null
R2257:Tmem121b UTSW 6 120492071 missense probably damaging 1.00
R2999:Tmem121b UTSW 6 120492982 missense possibly damaging 0.53
R3833:Tmem121b UTSW 6 120492880 missense probably damaging 1.00
R4583:Tmem121b UTSW 6 120492094 missense probably damaging 0.99
R4752:Tmem121b UTSW 6 120493034 missense possibly damaging 0.53
R7699:Tmem121b UTSW 6 120493427 missense unknown
R7700:Tmem121b UTSW 6 120493427 missense unknown
R8061:Tmem121b UTSW 6 120492103 missense probably damaging 0.99
R8074:Tmem121b UTSW 6 120492908 missense possibly damaging 0.53
Z1177:Tmem121b UTSW 6 120492661 missense probably damaging 0.99
Posted On2013-10-07