Incidental Mutation 'R5100:H2-Q6'
ID 388239
Institutional Source Beutler Lab
Gene Symbol H2-Q6
Ensembl Gene ENSMUSG00000073409
Gene Name histocompatibility 2, Q region locus 6
Synonyms Qa-6, Qa6, H-2Q6, 0610037M15Rik
MMRRC Submission 042689-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.325) question?
Stock # R5100 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 35643826-35649031 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 35644296 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glutamine at position 93 (E93Q)
Ref Sequence ENSEMBL: ENSMUSP00000134550 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113879] [ENSMUST00000174699]
AlphaFold P79568
Predicted Effect probably benign
Transcript: ENSMUST00000113879
AA Change: E93Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000109511
Gene: ENSMUSG00000073409
AA Change: E93Q

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:MHC_I 22 200 2.1e-92 PFAM
IGc1 219 290 7.68e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174699
AA Change: E93Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000134550
Gene: ENSMUSG00000073409
AA Change: E93Q

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:MHC_I 22 200 1.1e-93 PFAM
IGc1 219 290 7.68e-23 SMART
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.4%
Validation Efficiency
MGI Phenotype PHENOTYPE: This locus controls a lymph node and splenic lymphocyte antigen detected by BALB/cBy anti-ORA1-a tumor antibody. The strain distribution for presence/absence of antigen varies widely among inbred strains. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik A T 11: 72,057,477 (GRCm39) M774K probably damaging Het
Adamts3 G A 5: 89,856,502 (GRCm39) T357I probably damaging Het
Ap3m2 T A 8: 23,279,404 (GRCm39) M408L probably benign Het
Apaf1 A T 10: 90,833,149 (GRCm39) N1116K probably benign Het
Arhgap31 A T 16: 38,421,821 (GRCm39) I1415N probably damaging Het
Arhgef17 A T 7: 100,530,963 (GRCm39) D1374E possibly damaging Het
Asxl1 C G 2: 153,239,851 (GRCm39) N546K probably damaging Het
Cobll1 T A 2: 64,956,245 (GRCm39) T337S probably benign Het
Depdc1a A T 3: 159,221,157 (GRCm39) I163L probably benign Het
Flrt3 T A 2: 140,513,304 (GRCm39) probably null Het
Foxn4 A T 5: 114,394,820 (GRCm39) L369H possibly damaging Het
Gm11992 T C 11: 9,011,290 (GRCm39) S244P probably damaging Het
Gm14412 C T 2: 177,006,908 (GRCm39) C329Y probably damaging Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Gm5113 G A 7: 29,878,076 (GRCm39) V55M probably damaging Het
Grhl3 A G 4: 135,269,986 (GRCm39) I599T probably benign Het
Hk3 T C 13: 55,156,843 (GRCm39) T570A probably damaging Het
Hspb8 T C 5: 116,553,468 (GRCm39) I143M probably damaging Het
Kif15 A G 9: 122,821,059 (GRCm39) T655A probably damaging Het
Lpin2 G A 17: 71,550,965 (GRCm39) W708* probably null Het
Lrit1 T A 14: 36,784,171 (GRCm39) C500S possibly damaging Het
Macf1 A C 4: 123,368,261 (GRCm39) C602G probably benign Het
Mesd C T 7: 83,546,977 (GRCm39) R147C probably damaging Het
Mfge8 A T 7: 78,793,048 (GRCm39) D139E probably benign Het
Ncoa3 G A 2: 165,892,017 (GRCm39) R131Q probably damaging Het
Ncoa5 A G 2: 164,851,309 (GRCm39) I188T probably damaging Het
Ngp T C 9: 110,249,069 (GRCm39) L47P probably damaging Het
Nhlrc1 T C 13: 47,167,897 (GRCm39) H120R probably benign Het
Otos T A 1: 92,572,107 (GRCm39) H73L probably damaging Het
Pcsk5 C T 19: 17,492,499 (GRCm39) probably null Het
Phc3 T C 3: 30,976,348 (GRCm39) E740G possibly damaging Het
Pla2g7 T C 17: 43,922,267 (GRCm39) L382P probably damaging Het
Plcd3 C A 11: 102,969,175 (GRCm39) R264L probably benign Het
Pms2 A G 5: 143,865,006 (GRCm39) D696G probably damaging Het
Ptchd4 A T 17: 42,814,567 (GRCm39) I823F possibly damaging Het
Scn9a T C 2: 66,364,463 (GRCm39) R828G probably damaging Het
Spred2 T A 11: 19,971,291 (GRCm39) C386* probably null Het
Terb1 A T 8: 105,221,805 (GRCm39) L165* probably null Het
Tgm2 A T 2: 157,969,084 (GRCm39) S430R probably benign Het
Tnxb A T 17: 34,929,902 (GRCm39) I2879F probably damaging Het
Trpm3 T G 19: 22,896,130 (GRCm39) V977G probably damaging Het
Wnt5b A C 6: 119,417,449 (GRCm39) S139A probably benign Het
Zfp820 C A 17: 22,040,054 (GRCm39) V52L possibly damaging Het
Zfyve26 T A 12: 79,326,832 (GRCm39) R764* probably null Het
Other mutations in H2-Q6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02505:H2-Q6 APN 17 35,644,152 (GRCm39) missense probably benign 0.06
PIT4508001:H2-Q6 UTSW 17 35,644,796 (GRCm39) missense probably damaging 1.00
R0499:H2-Q6 UTSW 17 35,644,179 (GRCm39) missense probably damaging 0.98
R2426:H2-Q6 UTSW 17 35,643,913 (GRCm39) missense probably benign 0.06
R3236:H2-Q6 UTSW 17 35,644,676 (GRCm39) missense probably damaging 0.99
R3237:H2-Q6 UTSW 17 35,644,676 (GRCm39) missense probably damaging 0.99
R3810:H2-Q6 UTSW 17 35,644,757 (GRCm39) missense probably damaging 1.00
R3827:H2-Q6 UTSW 17 35,644,655 (GRCm39) missense probably damaging 1.00
R3932:H2-Q6 UTSW 17 35,644,542 (GRCm39) splice site probably benign
R4030:H2-Q6 UTSW 17 35,644,792 (GRCm39) missense probably benign 0.00
R4529:H2-Q6 UTSW 17 35,644,820 (GRCm39) missense probably null 1.00
R4558:H2-Q6 UTSW 17 35,647,291 (GRCm39) missense probably benign 0.00
R5435:H2-Q6 UTSW 17 35,644,661 (GRCm39) missense probably damaging 1.00
R5455:H2-Q6 UTSW 17 35,643,860 (GRCm39) missense unknown
R5724:H2-Q6 UTSW 17 35,644,628 (GRCm39) missense probably damaging 1.00
R6383:H2-Q6 UTSW 17 35,647,359 (GRCm39) critical splice donor site probably null
R6752:H2-Q6 UTSW 17 35,647,103 (GRCm39) missense probably damaging 0.96
R6853:H2-Q6 UTSW 17 35,647,335 (GRCm39) makesense probably null
R7421:H2-Q6 UTSW 17 35,644,204 (GRCm39) missense possibly damaging 0.94
R7558:H2-Q6 UTSW 17 35,644,595 (GRCm39) missense probably benign
R7762:H2-Q6 UTSW 17 35,647,077 (GRCm39) missense probably benign 0.01
R9224:H2-Q6 UTSW 17 35,644,309 (GRCm39) missense probably benign 0.01
R9631:H2-Q6 UTSW 17 35,644,292 (GRCm39) missense probably benign 0.01
R9654:H2-Q6 UTSW 17 35,644,185 (GRCm39) missense probably damaging 1.00
R9658:H2-Q6 UTSW 17 35,644,185 (GRCm39) missense probably damaging 1.00
R9662:H2-Q6 UTSW 17 35,644,185 (GRCm39) missense probably damaging 1.00
X0057:H2-Q6 UTSW 17 35,644,569 (GRCm39) missense probably benign 0.00
Predicted Primers
Posted On 2016-06-06