Incidental Mutation 'IGL01746:Tmem253'
ID 153027
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem253
Ensembl Gene ENSMUSG00000072571
Gene Name transmembrane protein 253
Synonyms G630016D24Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # IGL01746
Quality Score
Status
Chromosome 14
Chromosomal Location 52253115-52257251 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 52254614 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 23 (W23*)
Ref Sequence ENSEMBL: ENSMUSP00000153729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067549] [ENSMUST00000100638] [ENSMUST00000166169] [ENSMUST00000226522] [ENSMUST00000226527] [ENSMUST00000228051] [ENSMUST00000227295] [ENSMUST00000226554] [ENSMUST00000226605] [ENSMUST00000228580] [ENSMUST00000228408] [ENSMUST00000228162]
AlphaFold Q3UNB8
Predicted Effect probably benign
Transcript: ENSMUST00000067549
SMART Domains Protein: ENSMUSP00000068184
Gene: ENSMUSG00000049295

DomainStartEndE-ValueType
low complexity region 30 47 N/A INTRINSIC
ZnF_C2H2 61 83 6.23e-2 SMART
ZnF_C2H2 89 111 4.17e-3 SMART
low complexity region 113 146 N/A INTRINSIC
ZnF_C2H2 167 190 3.07e-1 SMART
ZnF_C2H2 193 216 1.51e0 SMART
low complexity region 229 276 N/A INTRINSIC
ZnF_C2H2 277 299 8.47e-4 SMART
ZnF_C2H2 305 327 1.38e-3 SMART
low complexity region 331 350 N/A INTRINSIC
low complexity region 354 379 N/A INTRINSIC
low complexity region 427 441 N/A INTRINSIC
ZnF_C2H2 501 523 3.63e-3 SMART
ZnF_C2H2 529 551 1.58e-3 SMART
low complexity region 560 570 N/A INTRINSIC
low complexity region 594 611 N/A INTRINSIC
low complexity region 637 648 N/A INTRINSIC
ZnF_C2H2 650 672 2.82e0 SMART
low complexity region 675 684 N/A INTRINSIC
low complexity region 695 714 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000100638
AA Change: W23*
SMART Domains Protein: ENSMUSP00000098203
Gene: ENSMUSG00000072571
AA Change: W23*

DomainStartEndE-ValueType
transmembrane domain 32 54 N/A INTRINSIC
transmembrane domain 58 80 N/A INTRINSIC
transmembrane domain 101 123 N/A INTRINSIC
transmembrane domain 138 160 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000166169
SMART Domains Protein: ENSMUSP00000126854
Gene: ENSMUSG00000049295

DomainStartEndE-ValueType
low complexity region 30 47 N/A INTRINSIC
ZnF_C2H2 61 83 6.23e-2 SMART
ZnF_C2H2 89 111 4.17e-3 SMART
low complexity region 113 146 N/A INTRINSIC
ZnF_C2H2 167 190 3.07e-1 SMART
ZnF_C2H2 193 216 1.51e0 SMART
low complexity region 229 276 N/A INTRINSIC
ZnF_C2H2 277 299 8.47e-4 SMART
ZnF_C2H2 305 327 1.38e-3 SMART
low complexity region 331 350 N/A INTRINSIC
low complexity region 354 379 N/A INTRINSIC
low complexity region 427 441 N/A INTRINSIC
ZnF_C2H2 501 523 3.63e-3 SMART
ZnF_C2H2 529 551 1.58e-3 SMART
low complexity region 560 570 N/A INTRINSIC
low complexity region 594 611 N/A INTRINSIC
low complexity region 637 648 N/A INTRINSIC
ZnF_C2H2 650 672 2.82e0 SMART
low complexity region 675 684 N/A INTRINSIC
low complexity region 695 714 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226268
Predicted Effect probably benign
Transcript: ENSMUST00000226522
Predicted Effect probably benign
Transcript: ENSMUST00000226527
Predicted Effect probably benign
Transcript: ENSMUST00000228051
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227420
Predicted Effect probably null
Transcript: ENSMUST00000227295
AA Change: W23*
Predicted Effect probably benign
Transcript: ENSMUST00000226554
Predicted Effect probably benign
Transcript: ENSMUST00000226605
Predicted Effect probably benign
Transcript: ENSMUST00000228580
Predicted Effect probably null
Transcript: ENSMUST00000228408
AA Change: W23*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226970
Predicted Effect probably benign
Transcript: ENSMUST00000228162
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A G 19: 8,982,276 (GRCm39) M1187V possibly damaging Het
Ctsm T C 13: 61,687,630 (GRCm39) E76G probably benign Het
Ctsm T C 13: 61,686,717 (GRCm39) probably benign Het
Egfl8 T C 17: 34,833,890 (GRCm39) T63A probably damaging Het
Fat4 T A 3: 39,045,880 (GRCm39) C3966* probably null Het
Fsd2 T C 7: 81,202,755 (GRCm39) T275A probably benign Het
Fyb2 A T 4: 104,802,404 (GRCm39) H102L probably benign Het
Galnt9 T C 5: 110,736,188 (GRCm39) I168T probably damaging Het
Hc A G 2: 34,947,338 (GRCm39) Y59H probably damaging Het
Khnyn T C 14: 56,124,439 (GRCm39) V231A probably benign Het
Larp4b T A 13: 9,208,160 (GRCm39) V378E probably damaging Het
Lbx1 A T 19: 45,222,214 (GRCm39) S270T possibly damaging Het
Mcm6 G A 1: 128,281,261 (GRCm39) R101* probably null Het
Mcph1 T C 8: 18,721,143 (GRCm39) L657P probably damaging Het
Ndst2 G T 14: 20,779,482 (GRCm39) P253T probably benign Het
Nek4 G A 14: 30,699,541 (GRCm39) probably null Het
Nsd1 T A 13: 55,424,328 (GRCm39) probably null Het
Oc90 A G 15: 65,761,250 (GRCm39) probably benign Het
Plcl2 T A 17: 50,914,724 (GRCm39) S578T probably benign Het
Ranbp3l T A 15: 9,063,167 (GRCm39) C325* probably null Het
Rps19bp1 T C 15: 80,145,198 (GRCm39) Y140C probably damaging Het
Sec62 T A 3: 30,868,395 (GRCm39) I208K probably benign Het
Slc25a48 T A 13: 56,618,166 (GRCm39) F268I probably damaging Het
Slc35e3 T C 10: 117,580,807 (GRCm39) T166A possibly damaging Het
Tmem97 T C 11: 78,433,586 (GRCm39) Y103C probably damaging Het
Traf6 A G 2: 101,527,237 (GRCm39) E329G possibly damaging Het
Ttll12 A G 15: 83,462,877 (GRCm39) F530L probably damaging Het
Ugt3a1 C T 15: 9,361,754 (GRCm39) P177S probably damaging Het
Veph1 T C 3: 66,065,508 (GRCm39) T520A probably benign Het
Vmn2r98 T A 17: 19,286,713 (GRCm39) Y404N probably damaging Het
Other mutations in Tmem253
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00333:Tmem253 APN 14 52,255,418 (GRCm39) missense probably damaging 1.00
R0501:Tmem253 UTSW 14 52,256,036 (GRCm39) missense probably damaging 1.00
R0506:Tmem253 UTSW 14 52,254,663 (GRCm39) intron probably benign
R5905:Tmem253 UTSW 14 52,255,268 (GRCm39) missense possibly damaging 0.73
R6028:Tmem253 UTSW 14 52,255,268 (GRCm39) missense possibly damaging 0.73
R7710:Tmem253 UTSW 14 52,254,608 (GRCm39) missense possibly damaging 0.92
R8261:Tmem253 UTSW 14 52,256,708 (GRCm39) missense probably benign 0.05
R8860:Tmem253 UTSW 14 52,256,303 (GRCm39) missense probably benign 0.01
R9165:Tmem253 UTSW 14 52,256,099 (GRCm39) missense probably benign
R9746:Tmem253 UTSW 14 52,255,439 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04