Incidental Mutation 'R0305:H2-T10'
ID24937
Institutional Source Beutler Lab
Gene Symbol H2-T10
Ensembl Gene ENSMUSG00000079491
Gene Namehistocompatibility 2, T region locus 10
SynonymsH-2T10
MMRRC Submission 038516-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.061) question?
Stock #R0305 (G1)
Quality Score225
Status Validated
Chromosome17
Chromosomal Location36115876-36121465 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 36119368 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 227 (L227P)
Ref Sequence ENSEMBL: ENSMUSP00000127602 (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 probably damaging
Transcript: ENSMUST00000166442
AA Change: L227P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127602
Gene: ENSMUSG00000079491
AA Change: L227P

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
SMART Domains Protein: ENSMUSP00000133893
Gene: ENSMUSG00000079491

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
Meta Mutation Damage Score 0.43 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 91.2%
Validation Efficiency 100% (59/59)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik G A 7: 27,574,636 R183Q probably damaging Het
Abca5 A G 11: 110,273,311 probably benign Het
Ada T C 2: 163,728,157 K312R probably benign Het
Adam21 C A 12: 81,560,285 K234N possibly damaging Het
Afdn T A 17: 13,888,514 probably null Het
Aimp1 T G 3: 132,673,986 K132Q possibly damaging Het
Aldh16a1 C T 7: 45,147,979 R135Q probably damaging Het
Alox12b A T 11: 69,167,379 Y519F probably benign Het
Alppl2 T C 1: 87,089,602 E25G probably benign Het
Apob A T 12: 8,012,210 N3531I probably damaging Het
Arhgap23 T C 11: 97,501,109 L321P probably damaging Het
Cab39l C T 14: 59,519,579 Q137* probably null Het
Cenpo A T 12: 4,216,660 H149Q possibly damaging Het
Cpt1a A G 19: 3,378,455 T610A probably benign Het
Dcbld2 A G 16: 58,448,939 T271A probably damaging Het
Dcps A G 9: 35,175,769 probably null Het
Dnaic2 A G 11: 114,752,894 D462G probably benign Het
Dsg2 T A 18: 20,582,695 probably benign Het
Eomes A T 9: 118,484,757 E623D probably benign Het
Fam19a5 T A 15: 87,720,508 I83N probably damaging Het
Fras1 A T 5: 96,596,888 H594L probably benign Het
Gad1-ps T G 10: 99,444,803 noncoding transcript Het
Galk2 A G 2: 125,887,888 Y63C probably damaging Het
Itgb4 T G 11: 115,979,412 C73G probably damaging Het
Itpr2 T C 6: 146,311,103 H1472R possibly damaging Het
Kcnh5 C T 12: 75,114,397 A246T probably benign Het
Kpna6 G T 4: 129,649,249 R458S probably benign Het
Lifr A G 15: 7,177,501 T498A probably damaging Het
Lrrd1 T G 5: 3,865,707 I768S probably damaging Het
Map2 T C 1: 66,413,094 V223A probably benign Het
Nod2 G A 8: 88,665,323 A731T probably damaging Het
Nrxn2 G A 19: 6,519,283 C1403Y probably damaging Het
Nxph1 A T 6: 9,247,754 I242F probably damaging Het
Olfr507 G A 7: 108,622,585 V258I probably benign Het
Pgr A G 9: 8,902,087 probably benign Het
Pik3cb A G 9: 99,064,076 S566P possibly damaging Het
Sema4d T C 13: 51,712,728 Y242C probably damaging Het
Sftpc T A 14: 70,524,078 probably benign Het
Sh3tc1 T G 5: 35,723,999 E33D probably benign Het
Slc17a5 A G 9: 78,557,537 L344P probably benign Het
Slc39a5 T A 10: 128,398,396 probably benign Het
Slc7a13 C A 4: 19,839,401 H335N probably benign Het
Slco1a4 A C 6: 141,817,753 N412K possibly damaging Het
Sox1 A T 8: 12,396,736 T126S probably damaging Het
Specc1l T A 10: 75,245,829 V353E probably damaging Het
Stat5b T C 11: 100,802,503 E104G probably benign Het
Sult4a1 A G 15: 84,086,667 V179A probably damaging Het
Tbl3 G A 17: 24,705,461 R134C probably damaging Het
Tmem256 T A 11: 69,838,911 probably benign Het
Tmigd1 A G 11: 76,907,134 T101A probably damaging Het
Unc5b C A 10: 60,779,658 probably benign Het
Unc79 T A 12: 103,113,200 S1679T probably benign Het
Vmn2r1 T G 3: 64,089,666 C248G probably damaging Het
Vmn2r57 T C 7: 41,427,543 I400V probably benign Het
Vwa8 T A 14: 79,009,273 L685H probably damaging Het
Yeats4 A G 10: 117,215,836 F172S probably damaging Het
Zfpm2 T G 15: 40,774,035 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
IGL03367:H2-T10 APN 17 36120393 missense possibly damaging 0.81
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
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
R7249:H2-T10 UTSW 17 36119377 missense probably damaging 0.99
R7324:H2-T10 UTSW 17 36119297 missense probably damaging 1.00
R7466:H2-T10 UTSW 17 36120849 missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- TGCCTCTACCTAAGGCTTCAAACCC -3'
(R):5'- TCACATGAACACTGCTGAGTCCCC -3'

Sequencing Primer
(F):5'- agggaagtgaagggaggg -3'
(R):5'- ACTGCTGAGTCCCCAGAAG -3'
Posted On2013-04-16