Incidental Mutation 'IGL02389:H2-T3'
ID291691
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 #IGL02389
Quality Score
Status
Chromosome17
Chromosomal Location36185572-36190287 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 36186608 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 59 (M59T)
Ref Sequence ENSEMBL: ENSMUSP00000138177 (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: M329T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000025312
Gene: ENSMUSG00000054128
AA Change: M329T

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
AA Change: M59T

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000138177
Gene: ENSMUSG00000054128
AA Change: M59T

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102675
AA Change: M373T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000099736
Gene: ENSMUSG00000054128
AA Change: M373T

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: M373T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000134469
Gene: ENSMUSG00000054128
AA Change: M373T

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G A 5: 63,896,483 S11N probably null Het
Aqp9 T C 9: 71,122,906 I200V possibly damaging Het
BC100530 C A 16: 36,367,486 V6F possibly damaging Het
Cntn2 T C 1: 132,525,321 E411G probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dennd3 A G 15: 73,567,056 D1091G probably damaging Het
Dock2 T C 11: 34,698,740 probably benign Het
Dscam T A 16: 96,640,897 I1577F probably benign Het
Egflam A T 15: 7,250,078 N482K probably benign Het
Fam216a T C 5: 122,367,511 T129A probably damaging Het
Fbxo40 T C 16: 36,969,774 M325V probably benign Het
Fbxw8 C T 5: 118,128,955 V148M possibly damaging Het
Fcgbp C T 7: 28,075,171 R57C probably damaging Het
Gnpnat1 A G 14: 45,380,931 probably null Het
Gria2 T C 3: 80,709,422 T408A probably benign Het
Jakmip1 C T 5: 37,100,843 Q278* probably null Het
Krtap21-1 C T 16: 89,403,424 G110D unknown Het
Myo7a C T 7: 98,106,991 probably null Het
Nlrp9c T A 7: 26,394,207 Q11L probably benign Het
Olfr1442 A T 19: 12,674,535 D110V probably benign Het
Olfr298 A G 7: 86,489,128 L141P probably damaging Het
Olfr767 A C 10: 129,079,230 I244M probably damaging Het
Olfr790 T A 10: 129,501,070 M62K probably benign Het
Pdzd8 A G 19: 59,301,393 I525T probably benign Het
Pign A T 1: 105,646,781 L280* probably null Het
Pik3r4 T G 9: 105,650,331 I294M possibly damaging Het
Pkhd1 T A 1: 20,117,720 I3455F probably damaging Het
Prmt3 C T 7: 49,848,758 Q471* probably null Het
Prrc2c A G 1: 162,692,870 F2006L probably damaging Het
Ptger3 C T 3: 157,567,171 R52C probably damaging Het
Rfx2 T C 17: 56,808,325 probably benign Het
Sh3bp4 T C 1: 89,145,148 F573L probably damaging Het
Slc18a2 G T 19: 59,263,301 probably benign Het
Slc26a8 T A 17: 28,638,650 I840F probably benign Het
Slc5a4b A T 10: 76,072,465 Y364* probably null Het
Slitrk1 A G 14: 108,912,322 I319T probably benign Het
Stxbp5l C T 16: 37,208,205 A499T probably benign Het
Tnks2 T A 19: 36,884,103 S951R probably benign Het
Trim30c A G 7: 104,382,174 F478S probably benign Het
Tyro3 C T 2: 119,804,864 probably benign Het
Vmn1r34 A T 6: 66,637,058 L232Q probably damaging Het
Zfp148 T A 16: 33,495,446 C215S probably damaging Het
Zzef1 T A 11: 72,899,538 V2106D possibly damaging Het
Zzef1 C T 11: 72,891,217 P1995S probably benign Het
Other mutations in H2-T3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00833:H2-T3 APN 17 36187041 missense probably benign
IGL01922:H2-T3 APN 17 36187100 missense possibly damaging 0.53
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
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 intron 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
RF009:H2-T3 UTSW 17 36189402 intron probably benign
Posted On2015-04-16