Incidental Mutation 'R7303:H2-Q7'
ID567132
Institutional Source Beutler Lab
Gene Symbol H2-Q7
Ensembl Gene ENSMUSG00000060550
Gene Namehistocompatibility 2, Q region locus 7
SynonymsPed, Qa7, Qa-7, H-2Q7
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.216) question?
Stock #R7303 (G1)
Quality Score225.009
Status Not validated
Chromosome17
Chromosomal Location35439155-35443773 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 35440061 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 163 (I163V)
Ref Sequence ENSEMBL: ENSMUSP00000071843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071951] [ENSMUST00000076256] [ENSMUST00000078205] [ENSMUST00000116598]
PDB Structure
crystal structure of the non-classical MHC class Ib Qa-2 complexed with a self peptide [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000071951
AA Change: I163V

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000071843
Gene: ENSMUSG00000060550
AA Change: I163V

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:MHC_I 22 200 3e-97 PFAM
IGc1 219 290 7.68e-23 SMART
transmembrane domain 308 330 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000076256
AA Change: I163V

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000075606
Gene: ENSMUSG00000060550
AA Change: I163V

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:MHC_I 22 200 3.3e-98 PFAM
IGc1 219 290 7.68e-23 SMART
low complexity region 310 325 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000078205
AA Change: I163V

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000077335
Gene: ENSMUSG00000060550
AA Change: I163V

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:MHC_I 22 200 1.9e-97 PFAM
IGc1 219 290 7.68e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000116598
AA Change: I163V

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000112297
Gene: ENSMUSG00000060550
AA Change: I163V

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:MHC_I 22 200 8.5e-98 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype PHENOTYPE: This locus controls a widely distributed lymphocyte antigen recognized by monoclonal antibody, serology or CTL assay. Using all assays, antigen is present (allele a) in C57BL/6, DBA/1, DBA/2 and SWR and absent (allele b) in AKR, C3H and BALB/c. Other strain allele typings were assay-dependent. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432K21Rik G C 8: 84,161,233 G71A probably benign Het
Abca3 T G 17: 24,398,521 L1064R possibly damaging Het
Abca7 A T 10: 80,014,988 D2051V probably benign Het
Abcb5 T A 12: 118,911,560 I626F probably damaging Het
Abcg5 A G 17: 84,670,346 S333P probably damaging Het
Abl2 T C 1: 156,641,250 S695P probably benign Het
Aen C T 7: 78,902,456 P55S possibly damaging Het
Afg3l1 G T 8: 123,501,269 A598S probably damaging Het
Aldh16a1 A T 7: 45,147,904 L160Q probably damaging Het
Ang A T 14: 51,101,516 H38L probably benign Het
Ankar A T 1: 72,659,033 I954N probably benign Het
Aox2 A T 1: 58,334,765 K862* probably null Het
Cad T C 5: 31,060,213 probably null Het
Cc2d2b A T 19: 40,808,994 Y740F unknown Het
Ccdc182 T C 11: 88,294,216 Y41H probably benign Het
Chd9 A G 8: 91,051,904 R2848G unknown Het
Chrna6 A T 8: 27,406,991 L286* probably null Het
Cracr2b A G 7: 141,463,202 probably benign Het
Fam184b C T 5: 45,542,226 probably null Het
Fam208a A G 14: 27,471,852 E1003G probably damaging Het
Flnc T C 6: 29,460,850 S2647P probably benign Het
Ftsj3 T C 11: 106,254,680 D76G probably damaging Het
Fxyd1 T A 7: 31,054,318 M17L probably benign Het
Golim4 G A 3: 75,878,053 S677L probably damaging Het
Gpr149 A G 3: 62,595,070 V455A possibly damaging Het
H2-Q1 C A 17: 35,321,336 S132R probably benign Het
Herc1 A T 9: 66,450,816 D2393V possibly damaging Het
Hmgb2 A G 8: 57,512,728 K44E possibly damaging Het
Itgad A G 7: 128,190,179 D605G probably benign Het
Kbtbd12 G T 6: 88,614,112 F16L unknown Het
Klhl23 T C 2: 69,824,701 I305T probably benign Het
Lrguk A T 6: 34,029,476 N7I probably benign Het
Lrp5 A G 19: 3,591,774 L1396P probably damaging Het
Mapkapk5 T C 5: 121,540,574 E13G probably benign Het
Mark3 T C 12: 111,655,536 V704A probably damaging Het
Mast2 A G 4: 116,308,311 S1303P possibly damaging Het
Mcm2 T C 6: 88,887,946 D516G probably damaging Het
Mon2 A T 10: 123,038,459 probably null Het
Mrc2 T A 11: 105,325,803 N139K probably damaging Het
Myh14 C T 7: 44,611,701 E1789K probably damaging Het
Myh7b T A 2: 155,618,740 L271Q probably damaging Het
Odf3l2 G A 10: 79,642,691 P80S probably benign Het
Olfr1087 A G 2: 86,690,822 V51A probably benign Het
Olfr61 T C 7: 140,638,354 S218P probably damaging Het
Oog2 A T 4: 144,195,342 H274L probably benign Het
Oosp1 A C 19: 11,668,410 S121R probably benign Het
Pepd T C 7: 35,021,772 probably null Het
Pik3c2a A C 7: 116,405,943 S363R probably benign Het
Polr2b T C 5: 77,321,021 Y215H probably benign Het
Ppcdc A T 9: 57,414,675 V194E probably benign Het
Rabgap1l A C 1: 160,682,097 I470S probably benign Het
Scgb1b3 G A 7: 31,375,958 A78T probably benign Het
Slc9a5 T A 8: 105,356,713 L368Q probably damaging Het
Spef2 T A 15: 9,647,490 I944F possibly damaging Het
Syne1 T A 10: 5,256,805 H3461L probably benign Het
Tas2r134 A G 2: 51,628,133 Y208C probably benign Het
Tm9sf3 G A 19: 41,238,759 S291F probably damaging Het
Tra2a G A 6: 49,250,987 T69I unknown Het
Ube2q1 T A 3: 89,776,591 L171Q possibly damaging Het
Ufd1 A G 16: 18,817,965 T78A probably damaging Het
Vmn1r13 T C 6: 57,210,602 S249P probably damaging Het
Wdr91 G A 6: 34,884,323 S648L probably benign Het
Zfp51 T A 17: 21,463,796 N224K probably benign Het
Other mutations in H2-Q7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0735:H2-Q7 UTSW 17 35440186 critical splice donor site probably null
R0839:H2-Q7 UTSW 17 35439712 missense probably damaging 1.00
R1737:H2-Q7 UTSW 17 35439626 missense probably damaging 1.00
R1831:H2-Q7 UTSW 17 35439699 missense probably benign 0.00
R1832:H2-Q7 UTSW 17 35439699 missense probably benign 0.00
R1833:H2-Q7 UTSW 17 35439699 missense probably benign 0.00
R2047:H2-Q7 UTSW 17 35440147 missense probably damaging 1.00
R4498:H2-Q7 UTSW 17 35439530 missense probably damaging 1.00
R4657:H2-Q7 UTSW 17 35442759 missense possibly damaging 0.86
R4784:H2-Q7 UTSW 17 35439938 missense probably damaging 1.00
R5387:H2-Q7 UTSW 17 35439542 missense probably damaging 1.00
R5499:H2-Q7 UTSW 17 35439940 nonsense probably null
R6410:H2-Q7 UTSW 17 35440176 missense probably benign 0.13
R6457:H2-Q7 UTSW 17 35439679 missense probably damaging 1.00
R6720:H2-Q7 UTSW 17 35442678 missense probably benign 0.05
R6943:H2-Q7 UTSW 17 35439584 missense probably benign 0.30
R7069:H2-Q7 UTSW 17 35440031 missense probably damaging 0.98
R7086:H2-Q7 UTSW 17 35439485 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTTTCAGTTTGGAGGAGTCC -3'
(R):5'- AGGGTTTCTTCTTCCCCAGGAC -3'

Sequencing Primer
(F):5'- GAGGAGGGACTGACCACTG -3'
(R):5'- TCTTCCCCAGGACTGAGC -3'
Posted On2019-06-26