Incidental Mutation 'R8373:H2-Q5'
ID646556
Institutional Source Beutler Lab
Gene Symbol H2-Q5
Ensembl Gene ENSMUSG00000055413
Gene Namehistocompatibility 2, Q region locus 5
SynonymsH-2Q5, Qa-5, Qat-5, Qa5
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #R8373 (G1)
Quality Score225.009
Status Not validated
Chromosome17
Chromosomal Location35394126-35397800 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 35394456 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 55 (V55E)
Ref Sequence ENSEMBL: ENSMUSP00000139605 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172979]
Predicted Effect
SMART Domains Protein: ENSMUSP00000139605
Gene: ENSMUSG00000055413
AA Change: V55E

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:MHC_I 22 191 5.7e-87 PFAM
low complexity region 293 319 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210010C04Rik T G 6: 41,031,688 T231P possibly damaging Het
Adgrg6 T C 10: 14,467,334 T290A probably benign Het
Aff4 C T 11: 53,400,267 Q685* probably null Het
Ankmy1 A G 1: 92,896,094 M150T probably damaging Het
Armc1 T C 3: 19,149,567 Y65C probably damaging Het
Armc8 A G 9: 99,527,099 V222A probably benign Het
Bcar1 A T 8: 111,715,738 Y228* probably null Het
Cct2 T C 10: 117,060,824 D158G possibly damaging Het
Cul1 T A 6: 47,515,063 C426S possibly damaging Het
Deup1 G T 9: 15,592,375 L297M possibly damaging Het
Dpp10 A G 1: 123,854,229 S74P possibly damaging Het
Epha4 A G 1: 77,507,079 Y98H possibly damaging Het
Epn3 T G 11: 94,492,936 D296A probably damaging Het
Eri2 A C 7: 119,772,597 I252S probably benign Het
Gm14025 T A 2: 129,038,171 I612F Het
Gp9 C T 6: 87,779,012 T3I probably benign Het
Kif3c G T 12: 3,366,089 V37L probably benign Het
Lct A T 1: 128,303,840 N757K probably damaging Het
Lhx8 A C 3: 154,324,658 N112K probably damaging Het
Loxl3 T A 6: 83,048,891 S373R possibly damaging Het
Mettl4 G A 17: 94,733,649 T359I probably damaging Het
Mpp7 A G 18: 7,444,096 S109P probably damaging Het
Nckap5 A G 1: 126,026,295 V840A probably benign Het
Ncoa4 T A 14: 32,176,936 L571Q probably damaging Het
Olfr453 T C 6: 42,744,346 F103S probably damaging Het
Olfr46 A T 7: 140,610,295 Y35F possibly damaging Het
Phgdh G A 3: 98,321,245 T204I probably damaging Het
Pla2g4d C T 2: 120,277,499 V310M probably null Het
Psmd12 C T 11: 107,497,624 P421L probably damaging Het
Ptch1 A G 13: 63,541,168 Y432H probably damaging Het
Rapgef1 G A 2: 29,710,231 G655S probably damaging Het
Rilpl2 C A 5: 124,478,034 A18S probably damaging Het
Srsf7 T C 17: 80,205,386 R88G probably benign Het
St6galnac1 T C 11: 116,769,233 K85E possibly damaging Het
Trip12 A T 1: 84,795,767 S49R probably damaging Het
Wdr48 A G 9: 119,905,494 T160A probably damaging Het
Zfp704 G A 3: 9,609,442 T93M unknown Het
Other mutations in H2-Q5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3851:H2-Q5 UTSW 17 35394139 missense unknown
R4609:H2-Q5 UTSW 17 35397080 missense probably benign 0.12
R5799:H2-Q5 UTSW 17 35394139 missense unknown
R6111:H2-Q5 UTSW 17 35394909 missense possibly damaging 0.94
R6197:H2-Q5 UTSW 17 35394942 missense probably benign 0.26
R7226:H2-Q5 UTSW 17 35397113 missense
R8499:H2-Q5 UTSW 17 35394844 missense
R8499:H2-Q5 UTSW 17 35394969 nonsense probably null
Z1177:H2-Q5 UTSW 17 35394504 missense
Predicted Primers PCR Primer
(F):5'- GGCTCTAACAATGCTGCTCTTG -3'
(R):5'- CCCTTGCTCTGGTTGTAGTAGC -3'

Sequencing Primer
(F):5'- CTAACAATGCTGCTCTTGCTGGTG -3'
(R):5'- AGTAGCTCTGTGCAGTCCTCAG -3'
Posted On2020-09-02