Incidental Mutation 'IGL01922:H2-T3'
ID180127
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 #IGL01922
Quality Score
Status
Chromosome17
Chromosomal Location36185572-36190287 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 36187100 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 307 (M307T)
Ref Sequence ENSEMBL: ENSMUSP00000134469 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025312] [ENSMUST00000095300] [ENSMUST00000097329] [ENSMUST00000102675] [ENSMUST00000172663] [ENSMUST00000173133] [ENSMUST00000173629] [ENSMUST00000174101]
Predicted Effect possibly damaging
Transcript: ENSMUST00000025312
AA Change: M263T

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000025312
Gene: ENSMUSG00000054128
AA Change: M263T

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 possibly damaging
Transcript: ENSMUST00000102675
AA Change: M307T

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000099736
Gene: ENSMUSG00000054128
AA Change: M307T

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 possibly damaging
Transcript: ENSMUST00000173133
AA Change: M307T

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000134469
Gene: ENSMUSG00000054128
AA Change: M307T

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A G 15: 8,270,821 K3204R unknown Het
Adam12 C A 7: 133,937,472 G104* probably null Het
Adamtsl1 A G 4: 86,249,902 K477R probably damaging Het
Arhgap35 A C 7: 16,564,255 V295G possibly damaging Het
Cacna1c A T 6: 118,652,668 I1234N probably damaging Het
Ccdc151 G T 9: 21,993,530 probably benign Het
Cntnap5c A G 17: 58,330,119 E997G possibly damaging Het
Cog6 T C 3: 52,986,425 N601S probably benign Het
Col28a1 G T 6: 8,158,133 D308E probably damaging Het
Cspg4 G A 9: 56,887,887 D969N probably damaging Het
Dhx8 G A 11: 101,739,807 V347I probably damaging Het
Dnah9 G T 11: 66,075,034 probably benign Het
Erap1 T C 13: 74,662,387 Y282H probably damaging Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Ifi204 T C 1: 173,761,722 I48V possibly damaging Het
Myh1 T C 11: 67,210,466 probably null Het
Nphp1 T C 2: 127,780,069 Y46C possibly damaging Het
Olfr128 A T 17: 37,923,959 H131L possibly damaging Het
Olfr325 G A 11: 58,581,073 M76I probably benign Het
Piezo1 G T 8: 122,492,692 S1066R probably benign Het
Plekhh1 T C 12: 79,079,579 S1353P probably benign Het
Prl6a1 A T 13: 27,315,360 D37V possibly damaging Het
Scn4a A G 11: 106,339,152 probably null Het
Selenoo T C 15: 89,099,649 V585A probably benign Het
Tmf1 T C 6: 97,176,930 T61A probably benign Het
Tshz3 A G 7: 36,769,605 T340A probably damaging Het
Unc50 A G 1: 37,437,203 D148G probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Xpc C T 6: 91,505,425 R192H probably damaging Het
Other mutations in H2-T3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00833:H2-T3 APN 17 36187041 missense probably benign
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
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
Z1176:H2-T3 UTSW 17 36186580 missense possibly damaging 0.86
Z1176:H2-T3 UTSW 17 36186582 missense possibly damaging 0.86
Posted On2014-05-07