Incidental Mutation 'R4558:H2-Q6'
ID 342960
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 042005-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.325) question?
Stock # R4558 (G1)
Quality Score 193
Status Validated
Chromosome 17
Chromosomal Location 35643826-35649031 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35647291 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 312 (V312A)
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: V312A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000109511
Gene: ENSMUSG00000073409
AA Change: V312A

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: V312A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000134550
Gene: ENSMUSG00000073409
AA Change: V312A

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
Meta Mutation Damage Score 0.1373 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 100% (36/36)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017G19Rik A G 3: 40,567,240 (GRCm39) noncoding transcript Het
A830018L16Rik C A 1: 12,042,300 (GRCm39) S440* probably null Het
Acot11 T C 4: 106,605,563 (GRCm39) N583S probably damaging Het
Alox12 T G 11: 70,143,889 (GRCm39) M164L probably benign Het
Atad2b A G 12: 4,993,223 (GRCm39) I247M probably benign Het
Bmpr2 T A 1: 59,884,851 (GRCm39) M279K probably damaging Het
Cacna2d3 T C 14: 28,825,670 (GRCm39) T502A possibly damaging Het
Casp12 A T 9: 5,352,742 (GRCm39) Y188F probably damaging Het
Catsperb A G 12: 101,557,799 (GRCm39) Y790C possibly damaging Het
Cnbd1 G T 4: 19,055,095 (GRCm39) N110K possibly damaging Het
Entrep1 G A 19: 24,007,913 (GRCm39) S130L probably damaging Het
Fam227b C T 2: 125,968,963 (GRCm39) S37N probably benign Het
Fsip2 T C 2: 82,815,297 (GRCm39) S3677P possibly damaging Het
Gm10764 A G 10: 87,126,682 (GRCm39) noncoding transcript Het
Hecw1 T A 13: 14,422,190 (GRCm39) D972V probably damaging Het
Kalrn G A 16: 33,807,578 (GRCm39) T2597I possibly damaging Het
Kng1 C A 16: 22,896,168 (GRCm39) probably null Het
Med13 T C 11: 86,189,880 (GRCm39) T1010A probably damaging Het
Nbeal1 C T 1: 60,320,469 (GRCm39) R2021* probably null Het
Ncapg A T 5: 45,833,986 (GRCm39) T341S probably benign Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Pabir2 G A X: 52,349,554 (GRCm39) probably benign Het
Pcdhb4 A G 18: 37,443,017 (GRCm39) I776V probably benign Het
Ppp4r4 T C 12: 103,573,192 (GRCm39) V697A probably benign Het
Pramel13 T C 4: 144,122,542 (GRCm39) M1V probably null Het
Psd4 G A 2: 24,294,806 (GRCm39) V789M probably damaging Het
Rasa3 T C 8: 13,648,259 (GRCm39) E135G probably damaging Het
Serpinb9c T A 13: 33,338,482 (GRCm39) E139V probably benign Het
Sgsm1 G A 5: 113,405,977 (GRCm39) probably benign Het
Tmem161b A G 13: 84,399,363 (GRCm39) I6M possibly damaging Het
Upf2 A G 2: 5,978,404 (GRCm39) M423V unknown Het
Vmn1r207 A G 13: 22,910,581 (GRCm39) noncoding transcript 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
R5100:H2-Q6 UTSW 17 35,644,296 (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 PCR Primer
(F):5'- ATGTGAACCATGAGGGGCTG -3'
(R):5'- ACTGAGAGCAGACCCAGTTACAG -3'

Sequencing Primer
(F):5'- TGAGCCTCTCACCCTGAG -3'
(R):5'- CCCAGTTACAGACAGTAGCAATGTG -3'
Posted On 2015-09-24