Incidental Mutation 'R3779:H2-T3'
ID 271983
Institutional Source Beutler Lab
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 # R3779 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 36496463-36501043 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36500574 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 90 (T90A)
Ref Sequence ENSEMBL: ENSMUSP00000134469 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025312] [ENSMUST00000095300] [ENSMUST00000097329] [ENSMUST00000102675] [ENSMUST00000172663] [ENSMUST00000173629] [ENSMUST00000173133] [ENSMUST00000174101]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000025312
AA Change: T90A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000025312
Gene: ENSMUSG00000054128
AA Change: T90A

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: T90A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099736
Gene: ENSMUSG00000054128
AA Change: T90A

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: T88A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134547
Gene: ENSMUSG00000054128
AA Change: T88A

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:MHC_I 25 203 5.1e-85 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172822
Predicted Effect probably damaging
Transcript: ENSMUST00000173629
AA Change: T88A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134607
Gene: ENSMUSG00000054128
AA Change: T88A

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:MHC_I 25 119 1.4e-40 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000173133
AA Change: T90A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134469
Gene: ENSMUSG00000054128
AA Change: T90A

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: ENSMUST00000174101
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 98% (47/48)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310079G19Rik A G 16: 88,424,273 (GRCm39) C73R probably damaging Het
Acot10 A G 15: 20,665,628 (GRCm39) V371A probably damaging Het
Ambn C A 5: 88,613,201 (GRCm39) probably benign Het
Ankrd34a T C 3: 96,506,247 (GRCm39) F484L possibly damaging Het
Bcl11a A G 11: 24,114,568 (GRCm39) K637R probably damaging Het
Cenpe T C 3: 134,962,337 (GRCm39) S1968P possibly damaging Het
Cfap61 T C 2: 145,792,714 (GRCm39) I52T probably damaging Het
Cit A T 5: 115,997,400 (GRCm39) M128L probably benign Het
Cnga1 G T 5: 72,762,126 (GRCm39) L463I probably damaging Het
Dnah11 C T 12: 118,094,448 (GRCm39) probably benign Het
Elovl4 ACT A 9: 83,667,201 (GRCm39) probably null Het
Ep400 A G 5: 110,839,515 (GRCm39) I1853T unknown Het
Flg2 C T 3: 93,109,730 (GRCm39) S586L unknown Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably benign Het
Gm21886 G T 18: 80,132,649 (GRCm39) Q170K possibly damaging Het
Gm5819 A G 18: 8,694,429 (GRCm39) E118G probably damaging Het
Gm9376 T C 14: 118,504,727 (GRCm39) V53A probably benign Het
Hif1an A G 19: 44,557,847 (GRCm39) D243G probably damaging Het
Hmgcs2 C T 3: 98,206,428 (GRCm39) probably benign Het
Ighv1-72 A T 12: 115,721,636 (GRCm39) S107T probably damaging Het
Jak1 G A 4: 101,013,687 (GRCm39) H1014Y probably benign Het
Klrb1c T C 6: 128,757,306 (GRCm39) D253G probably damaging Het
Lpin1 G A 12: 16,614,569 (GRCm39) T404M probably damaging Het
Map3k9 A T 12: 81,790,565 (GRCm39) probably benign Het
Mtrex A T 13: 113,039,926 (GRCm39) probably benign Het
Myl12a G T 17: 71,301,631 (GRCm39) H165Q possibly damaging Het
Or6c38 A G 10: 128,929,165 (GRCm39) F226S possibly damaging Het
Pdgfrb T A 18: 61,205,738 (GRCm39) S575T probably damaging Het
Phldb2 T C 16: 45,569,118 (GRCm39) Y1247C probably damaging Het
Pinlyp T A 7: 24,241,260 (GRCm39) T181S probably benign Het
Pkn2 A G 3: 142,499,741 (GRCm39) V928A possibly damaging Het
Skint5 C T 4: 113,636,237 (GRCm39) probably benign Het
Slc24a1 A G 9: 64,855,579 (GRCm39) Y443H unknown Het
Sp8 G T 12: 118,812,750 (GRCm39) V202L possibly damaging Het
Svil A G 18: 5,090,855 (GRCm39) N915S probably damaging Het
Syncrip A C 9: 88,358,992 (GRCm39) D172E probably damaging Het
Tex26 T C 5: 149,369,316 (GRCm39) I48T probably damaging Het
Trpm6 A C 19: 18,853,403 (GRCm39) I1808L possibly damaging Het
Uba2 T C 7: 33,854,071 (GRCm39) probably null Het
Vwa8 T A 14: 79,339,762 (GRCm39) probably benign Het
Wfs1 C A 5: 37,125,968 (GRCm39) V308L probably benign Het
Wrn T A 8: 33,731,048 (GRCm39) R1095W probably damaging Het
Zfp808 T A 13: 62,319,717 (GRCm39) N315K probably 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
IGL03298:H2-T3 APN 17 36,500,320 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- CCTAGGAATTCTCCAAACTGAAAGG -3'
(R):5'- ACAGTCTCACCACATGCTGC -3'

Sequencing Primer
(F):5'- GGAAACCGGTCCCTTTTGCAC -3'
(R):5'- CTCACACTCGCTGAGGTAC -3'
Posted On 2015-03-25