Incidental Mutation 'IGL01946:H2-T10'
ID 180961
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2-T10
Ensembl Gene ENSMUSG00000079491
Gene Name histocompatibility 2, T region locus 10
Synonyms H-2T10
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # IGL01946
Quality Score
Status
Chromosome 17
Chromosomal Location 36426763-36432336 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 36431608 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 82 (A82V)
Ref Sequence ENSEMBL: ENSMUSP00000127602 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046131] [ENSMUST00000166442] [ENSMUST00000173128] [ENSMUST00000174382]
AlphaFold F6T1I5
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: A82V

PolyPhen 2 Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000127602
Gene: ENSMUSG00000079491
AA Change: A82V

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 probably benign
Transcript: ENSMUST00000174382
AA Change: A82V

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000133893
Gene: ENSMUSG00000079491
AA Change: A82V

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,547,442 (GRCm39) E343K possibly damaging Het
Abcc9 T C 6: 142,571,763 (GRCm39) I1087V probably benign Het
Bcam A C 7: 19,494,042 (GRCm39) Y416* probably null Het
Bhlhe22 T A 3: 18,109,960 (GRCm39) C337S probably damaging Het
Cerkl T C 2: 79,223,364 (GRCm39) D119G probably benign Het
Cog6 T C 3: 52,909,825 (GRCm39) probably benign Het
Dchs1 T C 7: 105,408,312 (GRCm39) D1840G probably damaging Het
Dhx16 G T 17: 36,196,396 (GRCm39) M521I probably benign Het
Dnaja2 A G 8: 86,273,329 (GRCm39) I196T probably damaging Het
Fbxw7 T C 3: 84,811,369 (GRCm39) Y165H possibly damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm3371 A G 14: 44,646,178 (GRCm39) Y96H probably damaging Het
Hydin A G 8: 111,217,350 (GRCm39) T1413A possibly damaging Het
Krt23 T A 11: 99,383,665 (GRCm39) M76L possibly damaging Het
Lipe A T 7: 25,082,701 (GRCm39) M504K possibly damaging Het
Lrrc37 T A 11: 103,503,759 (GRCm39) R560S probably benign Het
Lta4h T A 10: 93,307,232 (GRCm39) probably benign Het
Ltbp2 T C 12: 84,877,522 (GRCm39) T348A probably damaging Het
Mybpc2 C A 7: 44,159,322 (GRCm39) probably benign Het
Or51r1 T C 7: 102,227,734 (GRCm39) probably null Het
Or52r1b T A 7: 102,691,357 (GRCm39) S219T probably damaging Het
Pdp2 G A 8: 105,320,824 (GRCm39) M224I probably benign Het
Pimreg C T 11: 71,935,804 (GRCm39) probably benign Het
Pld1 A T 3: 28,178,766 (GRCm39) S887C probably damaging Het
Ppp1r3g G A 13: 36,152,978 (GRCm39) A133T possibly damaging Het
Prpf8 G A 11: 75,390,818 (GRCm39) G1323D probably damaging Het
Rab3ip A G 10: 116,773,300 (GRCm39) probably null Het
Rpain A G 11: 70,861,358 (GRCm39) H9R possibly damaging Het
Scin T C 12: 40,110,490 (GRCm39) probably benign Het
Serpinb6d A G 13: 33,855,369 (GRCm39) T348A probably benign Het
Smad3 A G 9: 63,664,835 (GRCm39) L42P probably damaging Het
Smr3a C T 5: 88,156,014 (GRCm39) probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r13 G A 5: 109,322,085 (GRCm39) T204I probably benign Het
Zfhx3 A G 8: 109,660,561 (GRCm39) N1272D probably damaging Het
Other mutations in H2-T10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01296:H2-T10 APN 17 36,431,602 (GRCm39) missense probably benign 0.08
IGL03367:H2-T10 APN 17 36,431,285 (GRCm39) missense possibly damaging 0.81
IGL03381:H2-T10 APN 17 36,430,249 (GRCm39) nonsense probably null
IGL03381:H2-T10 APN 17 36,430,246 (GRCm39) missense probably benign
FR4304:H2-T10 UTSW 17 36,431,173 (GRCm39) frame shift probably null
R0305:H2-T10 UTSW 17 36,430,260 (GRCm39) missense probably damaging 1.00
R1446:H2-T10 UTSW 17 36,430,266 (GRCm39) missense possibly damaging 0.87
R1483:H2-T10 UTSW 17 36,432,038 (GRCm39) missense probably benign 0.44
R2038:H2-T10 UTSW 17 36,430,317 (GRCm39) missense probably benign 0.00
R2402:H2-T10 UTSW 17 36,428,631 (GRCm39) splice site probably null
R4755:H2-T10 UTSW 17 36,429,837 (GRCm39) nonsense probably null
R4957:H2-T10 UTSW 17 36,428,308 (GRCm39) utr 3 prime probably benign
R5162:H2-T10 UTSW 17 36,429,843 (GRCm39) splice site probably null
R5568:H2-T10 UTSW 17 36,430,079 (GRCm39) critical splice donor site probably null
R6226:H2-T10 UTSW 17 36,431,975 (GRCm39) missense probably damaging 0.99
R6850:H2-T10 UTSW 17 36,430,152 (GRCm39) missense probably damaging 1.00
R7249:H2-T10 UTSW 17 36,430,269 (GRCm39) missense probably damaging 0.99
R7324:H2-T10 UTSW 17 36,430,189 (GRCm39) missense probably damaging 1.00
R7466:H2-T10 UTSW 17 36,431,741 (GRCm39) missense probably benign 0.10
R7679:H2-T10 UTSW 17 36,430,216 (GRCm39) missense not run
R7767:H2-T10 UTSW 17 36,428,622 (GRCm39) missense probably benign 0.02
R7901:H2-T10 UTSW 17 36,431,143 (GRCm39) missense probably benign
R8278:H2-T10 UTSW 17 36,429,832 (GRCm39) missense probably benign 0.00
R8315:H2-T10 UTSW 17 36,429,905 (GRCm39) missense probably benign 0.41
R9646:H2-T10 UTSW 17 36,431,157 (GRCm39) missense probably damaging 0.96
RF032:H2-T10 UTSW 17 36,431,186 (GRCm39) frame shift probably null
RF046:H2-T10 UTSW 17 36,431,186 (GRCm39) frame shift probably null
Posted On 2014-05-07