Incidental Mutation 'R5474:H2-T3'
ID 433992
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
MMRRC Submission 043035-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5474 (G1)
Quality Score 146
Status Not validated
Chromosome 17
Chromosomal Location 36496463-36501043 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 36500999 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 6 (P6S)
Ref Sequence ENSEMBL: ENSMUSP00000134607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025312] [ENSMUST00000095300] [ENSMUST00000097329] [ENSMUST00000102675] [ENSMUST00000172663] [ENSMUST00000174101] [ENSMUST00000173133] [ENSMUST00000173629]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000025312
AA Change: P8S

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000025312
Gene: ENSMUSG00000054128
AA Change: P8S

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 unknown
Transcript: ENSMUST00000095300
AA Change: P6S
Predicted Effect unknown
Transcript: ENSMUST00000097329
AA Change: P6S
SMART Domains Protein: ENSMUSP00000138177
Gene: ENSMUSG00000054128
AA Change: P6S

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000102675
AA Change: P8S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099736
Gene: ENSMUSG00000054128
AA Change: P8S

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: P6S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134547
Gene: ENSMUSG00000054128
AA Change: P6S

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: ENSMUST00000174101
AA Change: P6S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000173133
AA Change: P8S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134469
Gene: ENSMUSG00000054128
AA Change: P8S

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 damaging
Transcript: ENSMUST00000173629
AA Change: P6S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134607
Gene: ENSMUSG00000054128
AA Change: P6S

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:MHC_I 25 119 1.4e-40 PFAM
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.2%
  • 10x: 95.0%
  • 20x: 90.1%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 C T 12: 118,904,425 (GRCm39) G122S probably null Het
Ankmy1 T C 1: 92,812,926 (GRCm39) D461G possibly damaging Het
Ascc3 T C 10: 50,725,634 (GRCm39) I2119T probably benign Het
Bud13 G C 9: 46,199,251 (GRCm39) R204T probably damaging Het
Clec4a4 T C 6: 122,989,706 (GRCm39) S116P probably damaging Het
Cnga1 T C 5: 72,762,536 (GRCm39) Y326C probably damaging Het
Cngb1 A T 8: 95,978,597 (GRCm39) I588N probably damaging Het
Cspg5 A T 9: 110,080,076 (GRCm39) I334F probably damaging Het
Cyp2c29 G A 19: 39,313,436 (GRCm39) A350T probably damaging Het
D5Ertd579e G T 5: 36,772,601 (GRCm39) S598Y probably damaging Het
Dgkq A G 5: 108,797,009 (GRCm39) probably null Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Dock4 T C 12: 40,795,730 (GRCm39) I849T probably benign Het
Drd4 T C 7: 140,873,641 (GRCm39) W98R probably damaging Het
Duox1 A T 2: 122,177,106 (GRCm39) Q1511L probably benign Het
Gtdc1 A T 2: 44,646,379 (GRCm39) L83Q probably damaging Het
H6pd A G 4: 150,080,546 (GRCm39) C92R probably damaging Het
Ide A G 19: 37,249,583 (GRCm39) V923A unknown Het
Kcnc4 A T 3: 107,355,207 (GRCm39) S414T possibly damaging Het
Krt14 A T 11: 100,095,571 (GRCm39) M278K probably damaging Het
Lrit1 T A 14: 36,783,943 (GRCm39) S424T probably benign Het
Muc4 G A 16: 32,581,635 (GRCm39) S2500N unknown Het
Ncs1 A T 2: 31,170,796 (GRCm39) N70Y probably damaging Het
Nemf C A 12: 69,363,109 (GRCm39) R923L probably benign Het
Nrros T C 16: 31,963,170 (GRCm39) I246M probably benign Het
Or5w13 G A 2: 87,523,401 (GRCm39) S275F probably damaging Het
Or6a2 T A 7: 106,600,296 (GRCm39) Y257F probably damaging Het
Or8g51 T A 9: 38,609,609 (GRCm39) T18S possibly damaging Het
Polb A G 8: 23,120,386 (GRCm39) Y296H probably benign Het
Prrc2a A T 17: 35,378,189 (GRCm39) F440L unknown Het
Prrc2c T C 1: 162,537,213 (GRCm39) probably benign Het
Ptprk C T 10: 28,372,926 (GRCm39) R726* probably null Het
Rnpc3 A T 3: 113,409,158 (GRCm39) L247* probably null Het
Scfd2 C T 5: 74,692,025 (GRCm39) V86I probably benign Het
Sec14l5 A G 16: 4,996,382 (GRCm39) T443A possibly damaging Het
Slc22a29 A G 19: 8,195,221 (GRCm39) V138A probably damaging Het
Usp15 T C 10: 122,963,950 (GRCm39) D524G probably damaging Het
Vav3 A G 3: 109,571,737 (GRCm39) T220A probably benign Het
Vmn2r17 G A 5: 109,582,150 (GRCm39) S513N probably damaging Het
Zfp84 C T 7: 29,476,514 (GRCm39) S402L probably damaging Het
Zfta A T 19: 7,397,524 (GRCm39) R24W 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
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
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'- TGTGACCTTCTCCCAGAACC -3'
(R):5'- GGTTGGGCTGTACAGAACTATAG -3'

Sequencing Primer
(F):5'- TTCTCCCAGAACCCGGCC -3'
(R):5'- GGGCTGTACAGAACTATAGTTTCAC -3'
Posted On 2016-10-06