Incidental Mutation 'IGL03367:H2-T10'
ID420124
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2-T10
Ensembl Gene ENSMUSG00000079491
Gene Namehistocompatibility 2, T region locus 10
SynonymsH-2T10
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.129) question?
Stock #IGL03367
Quality Score
Status
Chromosome17
Chromosomal Location36115876-36121465 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 36120393 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Valine at position 129 (E129V)
Ref Sequence ENSEMBL: ENSMUSP00000133893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046131] [ENSMUST00000166442] [ENSMUST00000173128] [ENSMUST00000174382]
Predicted Effect probably benign
Transcript: ENSMUST00000046131
SMART Domains Protein: ENSMUSP00000040558
Gene: ENSMUSG00000092243

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:MHC_I 26 204 2.3e-81 PFAM
IGc1 220 285 8.12e-13 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000166442
AA Change: E129V

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000127602
Gene: ENSMUSG00000079491
AA Change: E129V

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:MHC_I 29 191 6.2e-49 PFAM
IGc1 210 281 4.18e-24 SMART
transmembrane domain 294 313 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173128
SMART Domains Protein: ENSMUSP00000134339
Gene: ENSMUSG00000092277

DomainStartEndE-ValueType
low complexity region 103 115 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000174382
AA Change: E129V

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000133893
Gene: ENSMUSG00000079491
AA Change: E129V

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:MHC_I 29 205 9.5e-47 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174625
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174728
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030419C18Rik A G 9: 58,499,098 H97R probably damaging Het
Abcc5 A T 16: 20,392,811 probably benign Het
Adra1a G A 14: 66,637,989 V138I possibly damaging Het
Alpk3 A G 7: 81,094,990 I1278V probably benign Het
Asb6 A T 2: 30,824,679 I185N possibly damaging Het
Atg9a A G 1: 75,187,957 V121A probably benign Het
Cdc42bpb A G 12: 111,336,159 Y155H probably damaging Het
Ceacam15 A C 7: 16,675,587 S8A possibly damaging Het
Cep170b T A 12: 112,737,238 D615E probably benign Het
Cntn6 G T 6: 104,804,338 G462C probably damaging Het
Col8a2 A G 4: 126,312,198 D667G probably damaging Het
Cyp2c29 A G 19: 39,329,215 K382E probably damaging Het
Dgkd T C 1: 87,940,308 probably null Het
Dkk2 C T 3: 132,178,077 T246I probably damaging Het
Dnah5 T C 15: 28,234,327 L294P possibly damaging Het
Erbb2 G T 11: 98,422,875 probably null Het
Fn1 A G 1: 71,597,553 F2147L probably benign Het
Gm11149 G A 9: 49,546,346 probably benign Het
Gm13088 C T 4: 143,655,623 V168I possibly damaging Het
Gnrhr C T 5: 86,182,331 V277I probably benign Het
Hmgcr T C 13: 96,665,853 T108A probably damaging Het
Hnrnph3 A T 10: 63,017,229 I196N probably damaging Het
Kcnq5 T C 1: 21,403,065 K653E probably damaging Het
Lgi2 C A 5: 52,562,160 D100Y probably damaging Het
Mettl15 T A 2: 109,131,571 H231L probably benign Het
Mthfd1l A G 10: 4,106,536 probably benign Het
Pik3cg A G 12: 32,192,121 S997P probably benign Het
Pla2g1b T C 5: 115,472,114 C105R probably damaging Het
Ppil1 A T 17: 29,252,244 probably benign Het
Rbbp8 A G 18: 11,721,719 T334A probably benign Het
Slc15a4 T C 5: 127,601,941 Y445C probably damaging Het
Sox14 A C 9: 99,875,662 I8S probably damaging Het
Spice1 A G 16: 44,356,178 T44A probably damaging Het
Sult3a1 G T 10: 33,877,346 V213L probably benign Het
Vkorc1l1 C A 5: 129,982,307 Y111* probably null Het
Wdr47 G T 3: 108,629,773 probably benign Het
Wdr90 A G 17: 25,847,791 probably benign Het
Other mutations in H2-T10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01296:H2-T10 APN 17 36120710 missense probably benign 0.08
IGL01946:H2-T10 APN 17 36120716 missense possibly damaging 0.45
IGL03381:H2-T10 APN 17 36119354 missense probably benign
IGL03381:H2-T10 APN 17 36119357 nonsense probably null
FR4304:H2-T10 UTSW 17 36120281 frame shift probably null
R0305:H2-T10 UTSW 17 36119368 missense probably damaging 1.00
R1446:H2-T10 UTSW 17 36119374 missense possibly damaging 0.87
R1483:H2-T10 UTSW 17 36121146 missense probably benign 0.44
R2038:H2-T10 UTSW 17 36119425 missense probably benign 0.00
R2402:H2-T10 UTSW 17 36117739 splice site probably null
R4755:H2-T10 UTSW 17 36118945 nonsense probably null
R4957:H2-T10 UTSW 17 36117416 utr 3 prime probably benign
R5162:H2-T10 UTSW 17 36118951 unclassified probably null
R5568:H2-T10 UTSW 17 36119187 critical splice donor site probably null
R6226:H2-T10 UTSW 17 36121083 missense probably damaging 0.99
R6850:H2-T10 UTSW 17 36119260 missense probably damaging 1.00
Posted On2016-08-02