Incidental Mutation 'R8172:H2-Q10'
ID 634216
Institutional Source Beutler Lab
Gene Symbol H2-Q10
Ensembl Gene ENSMUSG00000067235
Gene Name histocompatibility 2, Q region locus 10
Synonyms H-2Q10, Q10, Qa10
MMRRC Submission 067598-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8172 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 35780986-35785460 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 35781996 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 206 (T206I)
Ref Sequence ENSEMBL: ENSMUSP00000066419 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068291] [ENSMUST00000174525]
AlphaFold P01898
Predicted Effect probably null
Transcript: ENSMUST00000068291
AA Change: T206I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066419
Gene: ENSMUSG00000067235
AA Change: T206I

DomainStartEndE-ValueType
low complexity region 9 18 N/A INTRINSIC
Pfam:MHC_I 25 203 5.8e-98 PFAM
IGc1 222 293 8.23e-23 SMART
Predicted Effect probably null
Transcript: ENSMUST00000174525
AA Change: T206I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134163
Gene: ENSMUSG00000067235
AA Change: T206I

DomainStartEndE-ValueType
low complexity region 9 18 N/A INTRINSIC
Pfam:MHC_I 25 203 3.3e-99 PFAM
IGc1 222 293 8.23e-23 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 100% (53/53)
MGI Phenotype PHENOTYPE: Unlike other class I genes, this gene is expressed only in liver cells and its product is secreted into the serum. The amount of protein in serum varies among inbred strains with different H2 haplotypes and is completely absent in the H2f strain B10.M. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy5 T A 16: 34,977,427 (GRCm39) L320Q probably damaging Het
Adgre4 A T 17: 56,104,769 (GRCm39) L278F probably benign Het
Agfg2 C A 5: 137,665,431 (GRCm39) R108L probably damaging Het
Arap2 A T 5: 62,779,324 (GRCm39) probably null Het
Ascl2 G T 7: 142,522,336 (GRCm39) N37K possibly damaging Het
Baiap3 C A 17: 25,463,096 (GRCm39) D1043Y probably damaging Het
Cby2 T A 14: 75,829,241 (GRCm39) probably null Het
Ccdc18 T C 5: 108,311,640 (GRCm39) probably null Het
Cemip T A 7: 83,646,433 (GRCm39) D205V probably damaging Het
Cenpn G A 8: 117,658,333 (GRCm39) G93D probably benign Het
Clpsl2 T A 17: 28,768,556 (GRCm39) S23R possibly damaging Het
Cnot3 T A 7: 3,661,724 (GRCm39) I672N possibly damaging Het
Crygs A G 16: 22,625,292 (GRCm39) Y50H probably damaging Het
Cyp4x1 T C 4: 114,968,874 (GRCm39) T403A possibly damaging Het
Dnajc28 G A 16: 91,413,795 (GRCm39) R150* probably null Het
Fam184b C T 5: 45,741,709 (GRCm39) G174D possibly damaging Het
Fat2 T A 11: 55,178,638 (GRCm39) D1474V probably damaging Het
Flg2 T A 3: 93,108,468 (GRCm39) D165E possibly damaging Het
Fpr-rs7 A T 17: 20,334,443 (GRCm39) F16I probably benign Het
Gpr176 G A 2: 118,114,615 (GRCm39) T65I probably damaging Het
Hadha C G 5: 30,350,285 (GRCm39) A88P probably damaging Het
Hlcs A T 16: 94,068,485 (GRCm39) L245Q probably damaging Het
Hnrnph1 T C 11: 50,270,732 (GRCm39) V113A probably damaging Het
Hsd3b7 G A 7: 127,401,546 (GRCm39) V224M probably damaging Het
Igha T C 12: 113,223,592 (GRCm39) D88G Het
Iqca1l T C 5: 24,748,608 (GRCm39) M803V probably benign Het
Kdm7a T C 6: 39,125,965 (GRCm39) K610R probably benign Het
Krt87 C T 15: 101,383,284 (GRCm39) C474Y probably benign Het
Lrrc74a T A 12: 86,788,530 (GRCm39) L170H probably damaging Het
Lyg2 T C 1: 37,946,748 (GRCm39) T178A probably benign Het
Map2k2 T A 10: 80,959,442 (GRCm39) probably null Het
Mast4 C T 13: 103,089,633 (GRCm39) probably null Het
Mtmr14 T A 6: 113,216,529 (GRCm39) D8E probably benign Het
Neu2 C T 1: 87,524,633 (GRCm39) P206L probably damaging Het
Oga C T 19: 45,765,339 (GRCm39) R156H probably damaging Het
Or10al6 A G 17: 38,083,326 (GRCm39) T261A probably benign Het
Or4c105 A T 2: 88,647,986 (GRCm39) Q157L probably damaging Het
Poc1b C A 10: 98,980,338 (GRCm39) probably null Het
Proser1 T A 3: 53,386,272 (GRCm39) V718E possibly damaging Het
Ptgr2 T A 12: 84,360,783 (GRCm39) L351Q possibly damaging Het
Ptprf A G 4: 118,068,275 (GRCm39) Y1754H probably benign Het
Scgb2b3 T C 7: 31,058,476 (GRCm39) K109R possibly damaging Het
Scn2a A T 2: 65,520,672 (GRCm39) H556L probably benign Het
Scn7a A T 2: 66,506,191 (GRCm39) M1566K possibly damaging Het
Slco5a1 A T 1: 13,060,490 (GRCm39) L77* probably null Het
Stk31 T C 6: 49,394,261 (GRCm39) F208L possibly damaging Het
Tbcd C T 11: 121,384,711 (GRCm39) T315M probably benign Het
Tbx4 A G 11: 85,801,933 (GRCm39) I189V probably benign Het
Tia1 T A 6: 86,404,682 (GRCm39) Y306N probably benign Het
Ttc21b T A 2: 66,082,500 (GRCm39) Y33F probably benign Het
Usp47 T A 7: 111,687,133 (GRCm39) L677* probably null Het
Other mutations in H2-Q10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01893:H2-Q10 APN 17 35,784,168 (GRCm39) missense probably damaging 1.00
IGL02003:H2-Q10 APN 17 35,781,338 (GRCm39) missense probably benign 0.01
IGL02308:H2-Q10 APN 17 35,784,463 (GRCm39) makesense probably null
IGL02804:H2-Q10 APN 17 35,784,147 (GRCm39) missense probably damaging 1.00
gomez UTSW 17 35,784,917 (GRCm39) utr 3 prime probably benign
lurch UTSW 17 35,781,915 (GRCm39) missense possibly damaging 0.92
R0278:H2-Q10 UTSW 17 35,784,204 (GRCm39) missense possibly damaging 0.83
R1679:H2-Q10 UTSW 17 35,784,492 (GRCm39) utr 3 prime probably benign
R1919:H2-Q10 UTSW 17 35,781,385 (GRCm39) missense probably damaging 1.00
R3781:H2-Q10 UTSW 17 35,781,915 (GRCm39) missense possibly damaging 0.92
R3782:H2-Q10 UTSW 17 35,781,915 (GRCm39) missense possibly damaging 0.92
R4614:H2-Q10 UTSW 17 35,784,917 (GRCm39) utr 3 prime probably benign
R4814:H2-Q10 UTSW 17 35,784,481 (GRCm39) utr 3 prime probably benign
R4870:H2-Q10 UTSW 17 35,781,357 (GRCm39) missense probably damaging 1.00
R6063:H2-Q10 UTSW 17 35,781,026 (GRCm39) missense probably benign 0.13
R7448:H2-Q10 UTSW 17 35,784,457 (GRCm39) missense not run
R7728:H2-Q10 UTSW 17 35,781,735 (GRCm39) missense probably damaging 0.98
R8034:H2-Q10 UTSW 17 35,781,338 (GRCm39) missense probably damaging 1.00
R8233:H2-Q10 UTSW 17 35,781,983 (GRCm39) missense probably benign 0.28
R8400:H2-Q10 UTSW 17 35,781,374 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGCCCTGAACGAAGACCTG -3'
(R):5'- GTTGTTACCTCAGGGAAATTCTC -3'

Sequencing Primer
(F):5'- CCTGAAAACGTGGACGGC -3'
(R):5'- CACTGTCCAGGGAGAAGGCTG -3'
Posted On 2020-07-13