Incidental Mutation 'IGL03298:H2-T3'
ID 416158
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2-T3
Ensembl Gene ENSMUSG00000054128
Gene Name histocompatibility 2, T region locus 3
Synonyms TL, H-2T3, H2-Tw3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03298
Quality Score
Status
Chromosome 17
Chromosomal Location 36496463-36501043 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36500320 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 125 (Y125C)
Ref Sequence ENSEMBL: ENSMUSP00000134469 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025312] [ENSMUST00000095300] [ENSMUST00000097329] [ENSMUST00000102675] [ENSMUST00000172663] [ENSMUST00000173133] [ENSMUST00000173629] [ENSMUST00000174101]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000025312
SMART Domains Protein: ENSMUSP00000025312
Gene: ENSMUSG00000054128

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 damaging
Transcript: ENSMUST00000102675
AA Change: Y125C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099736
Gene: ENSMUSG00000054128
AA Change: Y125C

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 damaging
Transcript: ENSMUST00000172663
AA Change: Y123C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134547
Gene: ENSMUSG00000054128
AA Change: Y123C

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:MHC_I 25 203 5.1e-85 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000173133
AA Change: Y125C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134469
Gene: ENSMUSG00000054128
AA Change: Y125C

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 silent
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 probably benign
Transcript: ENSMUST00000174101
Meta Mutation Damage Score 0.6467 question?
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,520,923 (GRCm39) T1344A probably benign Het
Abcc4 C A 14: 118,848,880 (GRCm39) D491Y probably damaging Het
Casp2 C T 6: 42,245,924 (GRCm39) probably benign Het
Ccnb2 T C 9: 70,326,156 (GRCm39) T63A probably benign Het
Cgrrf1 A G 14: 47,083,778 (GRCm39) I187V probably benign Het
Clstn2 C T 9: 97,338,625 (GRCm39) V845M probably damaging Het
Dmxl1 T C 18: 49,997,885 (GRCm39) M691T probably benign Het
Dnhd1 T G 7: 105,363,682 (GRCm39) I4081M probably damaging Het
Kif1a T A 1: 92,993,903 (GRCm39) D349V probably damaging Het
L3mbtl3 T C 10: 26,158,696 (GRCm39) T651A unknown Het
Megf10 C T 18: 57,416,910 (GRCm39) Q760* probably null Het
Mroh7 T A 4: 106,571,288 (GRCm39) K22* probably null Het
Or4f53 A T 2: 111,087,879 (GRCm39) M140L probably benign Het
Or7g29 A T 9: 19,286,358 (GRCm39) V273E probably damaging Het
Ppp6r3 A T 19: 3,571,829 (GRCm39) Y107N probably damaging Het
Reln T A 5: 22,115,834 (GRCm39) Q3058L probably damaging Het
Ss18 T C 18: 14,812,484 (GRCm39) M36V possibly damaging Het
Tlr7 C A X: 166,089,703 (GRCm39) K594N probably benign Het
Trim10 A G 17: 37,187,917 (GRCm39) S378G possibly damaging Het
Zfp644 A G 5: 106,782,967 (GRCm39) S1105P possibly damaging Het
Other mutations in H2-T3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00833:H2-T3 APN 17 36,497,933 (GRCm39) missense probably benign
IGL01922:H2-T3 APN 17 36,497,992 (GRCm39) missense possibly damaging 0.53
IGL02389:H2-T3 APN 17 36,497,500 (GRCm39) missense probably benign 0.01
IGL02423:H2-T3 APN 17 36,498,248 (GRCm39) missense probably damaging 0.98
IGL02963:H2-T3 APN 17 36,500,526 (GRCm39) missense probably damaging 0.98
hyperbole UTSW 17 36,498,237 (GRCm39) missense probably damaging 1.00
simile UTSW 17 36,497,962 (GRCm39) missense probably damaging 0.99
R1479:H2-T3 UTSW 17 36,500,320 (GRCm39) missense probably damaging 1.00
R2907:H2-T3 UTSW 17 36,498,347 (GRCm39) missense possibly damaging 0.90
R3623:H2-T3 UTSW 17 36,500,957 (GRCm39) missense possibly damaging 0.91
R3624:H2-T3 UTSW 17 36,500,957 (GRCm39) missense possibly damaging 0.91
R3779:H2-T3 UTSW 17 36,500,574 (GRCm39) missense probably damaging 0.99
R4271:H2-T3 UTSW 17 36,500,510 (GRCm39) missense probably damaging 1.00
R4586:H2-T3 UTSW 17 36,500,236 (GRCm39) splice site probably null
R5351:H2-T3 UTSW 17 36,500,965 (GRCm39) missense probably benign 0.06
R5387:H2-T3 UTSW 17 36,497,594 (GRCm39) missense probably benign 0.00
R5474:H2-T3 UTSW 17 36,500,999 (GRCm39) missense probably damaging 0.99
R5711:H2-T3 UTSW 17 36,498,301 (GRCm39) missense probably damaging 1.00
R6458:H2-T3 UTSW 17 36,497,911 (GRCm39) missense possibly damaging 0.53
R6849:H2-T3 UTSW 17 36,500,697 (GRCm39) missense probably benign 0.32
R6956:H2-T3 UTSW 17 36,500,263 (GRCm39) missense probably damaging 1.00
R6993:H2-T3 UTSW 17 36,497,962 (GRCm39) missense probably damaging 0.99
R7336:H2-T3 UTSW 17 36,498,237 (GRCm39) missense probably damaging 1.00
R7414:H2-T3 UTSW 17 36,498,275 (GRCm39) missense not run
R8143:H2-T3 UTSW 17 36,498,384 (GRCm39) missense probably benign 0.35
R8901:H2-T3 UTSW 17 36,498,252 (GRCm39) missense probably damaging 0.99
R9697:H2-T3 UTSW 17 36,500,744 (GRCm39) missense probably damaging 0.98
RF009:H2-T3 UTSW 17 36,500,294 (GRCm39) intron probably benign
Z1176:H2-T3 UTSW 17 36,497,474 (GRCm39) missense possibly damaging 0.86
Z1176:H2-T3 UTSW 17 36,497,472 (GRCm39) missense possibly damaging 0.86
Posted On 2016-08-02