Incidental Mutation 'R6628:H2-T9'
ID 524942
Institutional Source Beutler Lab
Gene Symbol H2-T9
Ensembl Gene
Gene Name histocompatibility 2, T region locus 9
Synonyms H-2T9, H2-T25, Gm7030
MMRRC Submission 044750-MU
Accession Numbers
Essential gene? Not available question?
Stock # R6628 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 36349299-36432318 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36439946 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 63 (S63G)
Ref Sequence ENSEMBL: ENSMUSP00000133734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046131] [ENSMUST00000172968] [ENSMUST00000173128] [ENSMUST00000173322]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000046131
AA Change: S63G

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000040558
Gene: ENSMUSG00000092243
AA Change: S63G

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: ENSMUST00000172968
AA Change: S63G

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000133748
Gene: ENSMUSG00000092243
AA Change: S63G

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:MHC_I 26 204 1.5e-80 PFAM
IGc1 220 285 8.12e-13 SMART
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: ENSMUST00000173322
AA Change: S63G

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000133734
Gene: ENSMUSG00000092243
AA Change: S63G

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts1 A C 16: 85,592,713 (GRCm39) M565R probably benign Het
Cd4 A G 6: 124,856,431 (GRCm39) L20P unknown Het
Chrm2 G T 6: 36,500,292 (GRCm39) V50F probably damaging Het
Clasp2 A G 9: 113,725,788 (GRCm39) T828A probably damaging Het
Clec4a4 A G 6: 122,989,763 (GRCm39) K135E probably benign Het
Clmn T C 12: 104,740,045 (GRCm39) R961G probably damaging Het
Cyp2s1 T C 7: 25,514,466 (GRCm39) K64E probably benign Het
Dagla T C 19: 10,240,591 (GRCm39) D213G probably damaging Het
Dsp A T 13: 38,351,598 (GRCm39) E139V possibly damaging Het
Fam168b C A 1: 34,875,822 (GRCm39) G21V probably damaging Het
Gtf3c1 A T 7: 125,267,246 (GRCm39) D928E probably benign Het
Gulo T C 14: 66,241,619 (GRCm39) K80E probably benign Het
Kdm5d A G Y: 900,525 (GRCm39) Y190C probably damaging Homo
Kif27 A T 13: 58,502,611 (GRCm39) H22Q probably damaging Het
Kmt2c T C 5: 25,503,926 (GRCm39) D383G probably benign Het
Lmtk2 A G 5: 144,111,503 (GRCm39) E741G probably benign Het
Mphosph9 G T 5: 124,436,825 (GRCm39) N506K probably damaging Het
Myo16 T C 8: 10,620,638 (GRCm39) S1674P probably damaging Het
Or5h26 T C 16: 58,988,344 (GRCm39) H54R probably benign Het
Or8j3c T G 2: 86,253,361 (GRCm39) N220H probably benign Het
Pdcd10 A G 3: 75,428,378 (GRCm39) V82A probably damaging Het
Ptpn11 G T 5: 121,272,892 (GRCm39) probably null Het
Pxdn T C 12: 30,049,917 (GRCm39) L475P probably damaging Het
Senp6 A G 9: 80,040,236 (GRCm39) D781G probably damaging Het
Tbc1d5 T C 17: 51,043,236 (GRCm39) T751A probably benign Het
Tbx18 A T 9: 87,597,588 (GRCm39) Y315* probably null Het
Wrap53 T C 11: 69,452,970 (GRCm39) K446E probably benign Het
Wwp1 T C 4: 19,661,963 (GRCm39) probably null Het
Other mutations in H2-T9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02997:H2-T9 APN 17 36,438,728 (GRCm39) missense possibly damaging 0.81
IGL03154:H2-T9 APN 17 36,438,767 (GRCm39) missense probably benign 0.01
IGL03170:H2-T9 APN 17 36,439,605 (GRCm39) missense probably damaging 1.00
IGL03229:H2-T9 APN 17 36,438,614 (GRCm39) missense probably damaging 1.00
R0401:H2-T9 UTSW 17 36,439,597 (GRCm39) missense probably damaging 0.99
R0666:H2-T9 UTSW 17 36,438,726 (GRCm39) missense possibly damaging 0.56
R1981:H2-T9 UTSW 17 36,439,614 (GRCm39) missense probably damaging 0.99
R1982:H2-T9 UTSW 17 36,439,614 (GRCm39) missense probably damaging 0.99
R3110:H2-T9 UTSW 17 36,440,038 (GRCm39) missense probably damaging 1.00
R3112:H2-T9 UTSW 17 36,440,038 (GRCm39) missense probably damaging 1.00
R4811:H2-T9 UTSW 17 36,438,668 (GRCm39) missense probably damaging 0.97
R5023:H2-T9 UTSW 17 36,420,307 (GRCm39) unclassified probably benign
R5146:H2-T9 UTSW 17 36,439,907 (GRCm39) missense probably damaging 1.00
R5802:H2-T9 UTSW 17 36,422,179 (GRCm39) intron probably benign
R7123:H2-T9 UTSW 17 36,438,686 (GRCm39) missense possibly damaging 0.82
R7244:H2-T9 UTSW 17 36,438,496 (GRCm39) splice site probably null
R7880:H2-T9 UTSW 17 36,438,761 (GRCm39) missense possibly damaging 0.59
R8118:H2-T9 UTSW 17 36,438,582 (GRCm39) missense probably damaging 0.97
R8926:H2-T9 UTSW 17 36,420,626 (GRCm39) critical splice acceptor site probably null
V1662:H2-T9 UTSW 17 36,439,823 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CCTTCAGTGAGTTCGTGAGG -3'
(R):5'- AAGCGAGTTGTCCTGTCTCC -3'

Sequencing Primer
(F):5'- ACGTGACCTCTGACACTCG -3'
(R):5'- GCTCATCTCCAGGTCTGCG -3'
Posted On 2018-06-22