Incidental Mutation 'IGL00833:H2-T3'
ID11200
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2-T3
Ensembl Gene ENSMUSG00000054128
Gene Namehistocompatibility 2, T region locus 3
SynonymsTL, H2-Tw3, H-2T3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00833
Quality Score
Status
Chromosome17
Chromosomal Location36185572-36190287 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 36187041 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 327 (S327R)
Ref Sequence ENSEMBL: ENSMUSP00000134469 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025312] [ENSMUST00000095300] [ENSMUST00000097329] [ENSMUST00000102675] [ENSMUST00000172663] [ENSMUST00000173133] [ENSMUST00000173629] [ENSMUST00000174101]
Predicted Effect probably benign
Transcript: ENSMUST00000025312
AA Change: S283R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025312
Gene: ENSMUSG00000054128
AA Change: S283R

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:MHC_I 27 120 2.5e-40 PFAM
Pfam:MHC_I 114 161 3.7e-14 PFAM
IGc1 180 251 1.6e-20 SMART
transmembrane domain 271 290 N/A INTRINSIC
low complexity region 293 301 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000095300
Predicted Effect probably benign
Transcript: ENSMUST00000097329
SMART Domains Protein: ENSMUSP00000138177
Gene: ENSMUSG00000054128

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102675
AA Change: S327R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099736
Gene: ENSMUSG00000054128
AA Change: S327R

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:MHC_I 27 205 9.3e-85 PFAM
IGc1 224 295 1.6e-20 SMART
transmembrane domain 315 334 N/A INTRINSIC
low complexity region 337 345 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172663
SMART Domains Protein: ENSMUSP00000134547
Gene: ENSMUSG00000054128

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:MHC_I 25 203 5.1e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173133
AA Change: S327R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000134469
Gene: ENSMUSG00000054128
AA Change: S327R

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:MHC_I 27 205 2.6e-84 PFAM
IGc1 224 295 1.6e-20 SMART
transmembrane domain 315 334 N/A INTRINSIC
low complexity region 337 345 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173435
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173577
Predicted Effect probably benign
Transcript: ENSMUST00000173629
SMART Domains Protein: ENSMUSP00000134607
Gene: ENSMUSG00000054128

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:MHC_I 25 119 1.4e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173902
Predicted Effect probably benign
Transcript: ENSMUST00000174101
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: This locus contains the sole gene encoding the thymic leukemia antigen or TL antigen in "b haplotype" mice such as C57BL/6. Mice homozygous for a targeted knock-out are viable with normal reproduction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh3a1 A G 11: 61,217,180 E350G probably damaging Het
Apob T C 12: 8,010,101 V2861A probably benign Het
Bpifb9a C T 2: 154,264,275 Q358* probably null Het
Cbfa2t2 T A 2: 154,528,875 Y423N probably damaging Het
Cd209e A C 8: 3,852,800 M102R probably benign Het
Ddx42 T A 11: 106,231,178 V173D possibly damaging Het
Dnah11 A G 12: 118,179,580 F443L probably damaging Het
Exoc4 G A 6: 33,971,924 E901K probably damaging Het
Gp5 T C 16: 30,309,466 D130G possibly damaging Het
Myo1e T C 9: 70,338,778 I417T probably damaging Het
Nasp A G 4: 116,602,736 V377A probably damaging Het
Nbn A G 4: 15,964,320 I132V probably benign Het
Nckap5 C A 1: 126,027,152 K622N probably damaging Het
Nlrp4e G A 7: 23,340,471 V740I probably benign Het
Polr3gl T G 3: 96,578,560 D130A probably damaging Het
Ptprc T C 1: 138,078,492 K784R possibly damaging Het
Sycp1 A G 3: 102,876,301 probably null Het
Tg C T 15: 66,688,801 T1004I probably benign Het
Tmco5b T A 2: 113,296,849 I255N probably damaging Het
Ubr4 G A 4: 139,393,159 probably null Het
Zeb1 A G 18: 5,767,774 T762A probably benign Het
Zfp345 T C 2: 150,472,729 E296G probably damaging Het
Other mutations in H2-T3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01922:H2-T3 APN 17 36187100 missense possibly damaging 0.53
IGL02389:H2-T3 APN 17 36186608 missense probably benign 0.01
IGL02423:H2-T3 APN 17 36187356 missense probably damaging 0.98
IGL02963:H2-T3 APN 17 36189634 missense probably damaging 0.98
IGL03298:H2-T3 APN 17 36189428 missense probably damaging 1.00
hyperbole UTSW 17 36187345 missense probably damaging 1.00
simile UTSW 17 36187070 missense probably damaging 0.99
R1479:H2-T3 UTSW 17 36189428 missense probably damaging 1.00
R2907:H2-T3 UTSW 17 36187455 missense possibly damaging 0.90
R3623:H2-T3 UTSW 17 36190065 missense possibly damaging 0.91
R3624:H2-T3 UTSW 17 36190065 missense possibly damaging 0.91
R3779:H2-T3 UTSW 17 36189682 missense probably damaging 0.99
R4271:H2-T3 UTSW 17 36189618 missense probably damaging 1.00
R4586:H2-T3 UTSW 17 36189344 splice site probably null
R5351:H2-T3 UTSW 17 36190073 missense probably benign 0.06
R5387:H2-T3 UTSW 17 36186702 missense probably benign 0.00
R5474:H2-T3 UTSW 17 36190107 missense probably damaging 0.99
R5711:H2-T3 UTSW 17 36187409 missense probably damaging 1.00
R6458:H2-T3 UTSW 17 36187019 missense possibly damaging 0.53
R6849:H2-T3 UTSW 17 36189805 missense probably benign 0.32
R6956:H2-T3 UTSW 17 36189371 missense probably damaging 1.00
R6993:H2-T3 UTSW 17 36187070 missense probably damaging 0.99
R7336:H2-T3 UTSW 17 36187345 missense probably damaging 1.00
R7414:H2-T3 UTSW 17 36187383 missense not run
R8143:H2-T3 UTSW 17 36187492 missense probably benign 0.35
RF009:H2-T3 UTSW 17 36189402 intron probably benign
Z1176:H2-T3 UTSW 17 36186580 missense possibly damaging 0.86
Z1176:H2-T3 UTSW 17 36186582 missense possibly damaging 0.86
Posted On2012-12-06