Incidental Mutation 'R0380:H2-Q1'
ID 30950
Institutional Source Beutler Lab
Gene Symbol H2-Q1
Ensembl Gene ENSMUSG00000079507
Gene Name histocompatibility 2, Q region locus 1
Synonyms H-2Q1, Q1k, Q1d, Q1, Q1b
MMRRC Submission 038586-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R0380 (G1)
Quality Score 188
Status Validated
Chromosome 17
Chromosomal Location 35539381-35544075 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 35542054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 209 (H209Y)
Ref Sequence ENSEMBL: ENSMUSP00000100662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073208] [ENSMUST00000105041]
AlphaFold O19441
Predicted Effect probably damaging
Transcript: ENSMUST00000073208
AA Change: H209Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000072942
Gene: ENSMUSG00000079507
AA Change: H209Y

DomainStartEndE-ValueType
Pfam:MHC_I 22 200 4.7e-88 PFAM
IGc1 219 290 8.23e-23 SMART
transmembrane domain 306 328 N/A INTRINSIC
Pfam:MHC_I_C 340 367 1.5e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105041
AA Change: H209Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100662
Gene: ENSMUSG00000079507
AA Change: H209Y

DomainStartEndE-ValueType
Pfam:MHC_I 22 200 2.3e-90 PFAM
IGc1 219 290 8.23e-23 SMART
transmembrane domain 306 328 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172994
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.5%
Validation Efficiency 100% (58/58)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,538,500 (GRCm39) probably null Het
Abca14 A T 7: 119,877,703 (GRCm39) I1073L probably benign Het
Adamts17 C T 7: 66,799,792 (GRCm39) P1116L probably benign Het
Adgrb2 C G 4: 129,901,624 (GRCm39) P416R probably damaging Het
Ano4 A G 10: 88,814,675 (GRCm39) I671T possibly damaging Het
Aoc1l1 A G 6: 48,952,773 (GRCm39) I233V probably benign Het
Ap1g1 A G 8: 110,529,796 (GRCm39) probably benign Het
Arhgap19 A G 19: 41,761,576 (GRCm39) probably benign Het
Arhgap32 C T 9: 32,157,773 (GRCm39) R129W probably damaging Het
Atp10b G T 11: 43,116,424 (GRCm39) A924S probably damaging Het
Ccdc180 T A 4: 45,930,197 (GRCm39) probably null Het
Cckbr A G 7: 105,084,198 (GRCm39) T311A probably benign Het
Cr2 C T 1: 194,839,715 (GRCm39) G947R probably damaging Het
Cyp2g1 T A 7: 26,513,720 (GRCm39) probably benign Het
Dennd1c G A 17: 57,380,822 (GRCm39) A210V probably damaging Het
Dscam A G 16: 96,857,810 (GRCm39) Y67H probably damaging Het
Dsg2 T A 18: 20,715,996 (GRCm39) Y282* probably null Het
Epg5 T C 18: 78,004,056 (GRCm39) L688P probably damaging Het
Esr2 T G 12: 76,170,065 (GRCm39) E458A possibly damaging Het
Fat1 T C 8: 45,463,160 (GRCm39) S1326P probably damaging Het
Flt1 A G 5: 147,525,382 (GRCm39) S919P probably damaging Het
Gpr12 T A 5: 146,520,146 (GRCm39) T259S probably damaging Het
Grm5 T A 7: 87,723,584 (GRCm39) C625S possibly damaging Het
Hcfc2 C A 10: 82,564,272 (GRCm39) probably benign Het
Itgal C A 7: 126,909,923 (GRCm39) Y495* probably null Het
Kbtbd3 T A 9: 4,330,545 (GRCm39) Y306* probably null Het
Kcns2 T C 15: 34,839,318 (GRCm39) F227S possibly damaging Het
Kif1a T A 1: 92,983,753 (GRCm39) probably null Het
Maml2 C T 9: 13,532,396 (GRCm39) R537* probably null Het
Muc4 G A 16: 32,574,333 (GRCm39) A928T probably benign Het
Nav3 A G 10: 109,594,740 (GRCm39) probably benign Het
Neb A T 2: 52,122,214 (GRCm39) M605K probably damaging Het
Or2c1 A T 16: 3,656,849 (GRCm39) D4V probably benign Het
Pcdhb3 T G 18: 37,435,210 (GRCm39) I392S possibly damaging Het
Prune2 A G 19: 17,101,371 (GRCm39) T2292A probably damaging Het
Rbbp8nl A T 2: 179,923,512 (GRCm39) M108K probably damaging Het
Rbm25 A G 12: 83,707,130 (GRCm39) T259A probably benign Het
Recql C A 6: 142,315,156 (GRCm39) R243L probably damaging Het
Rsf1 TGGCG TGGCGACGGCGGCG 7: 97,229,112 (GRCm39) probably benign Het
Serpinb12 T C 1: 106,878,551 (GRCm39) probably null Het
Slc16a14 T A 1: 84,907,251 (GRCm39) I8F possibly damaging Het
Spef1 G T 2: 131,014,332 (GRCm39) probably benign Het
Tas2r103 A G 6: 133,013,166 (GRCm39) L300P probably damaging Het
Tas2r117 A T 6: 132,780,551 (GRCm39) R230* probably null Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Thnsl2 A T 6: 71,118,314 (GRCm39) L38Q probably damaging Het
Tmem171 G T 13: 98,828,535 (GRCm39) T205K possibly damaging Het
Tmem232 A T 17: 65,563,443 (GRCm39) L650Q probably benign Het
Tpr T A 1: 150,288,698 (GRCm39) D518E probably benign Het
Tsen54 T C 11: 115,713,423 (GRCm39) V442A probably damaging Het
Tshz3 A T 7: 36,470,725 (GRCm39) I905F probably damaging Het
Vmn1r66 C T 7: 10,008,670 (GRCm39) C121Y probably benign Het
Wdfy3 T C 5: 102,096,832 (GRCm39) Q322R probably damaging Het
Wdr64 T C 1: 175,597,208 (GRCm39) probably benign Het
Other mutations in H2-Q1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01448:H2-Q1 APN 17 35,542,437 (GRCm39) splice site probably benign
IGL01769:H2-Q1 APN 17 35,542,505 (GRCm39) missense probably benign 0.26
PIT4531001:H2-Q1 UTSW 17 35,540,055 (GRCm39) missense probably damaging 0.99
PIT4531001:H2-Q1 UTSW 17 35,539,892 (GRCm39) missense probably benign 0.37
R0570:H2-Q1 UTSW 17 35,540,373 (GRCm39) missense possibly damaging 0.94
R1935:H2-Q1 UTSW 17 35,542,469 (GRCm39) missense probably benign 0.08
R4352:H2-Q1 UTSW 17 35,539,919 (GRCm39) missense possibly damaging 0.52
R4672:H2-Q1 UTSW 17 35,539,906 (GRCm39) missense probably damaging 1.00
R4774:H2-Q1 UTSW 17 35,540,242 (GRCm39) splice site probably benign
R5941:H2-Q1 UTSW 17 35,540,332 (GRCm39) missense probably damaging 1.00
R6825:H2-Q1 UTSW 17 35,540,028 (GRCm39) missense probably damaging 1.00
R7136:H2-Q1 UTSW 17 35,539,603 (GRCm39) critical splice donor site probably null
R7303:H2-Q1 UTSW 17 35,540,312 (GRCm39) missense probably benign 0.00
R7991:H2-Q1 UTSW 17 35,540,356 (GRCm39) missense probably damaging 1.00
R8306:H2-Q1 UTSW 17 35,539,997 (GRCm39) nonsense probably null
R8786:H2-Q1 UTSW 17 35,539,869 (GRCm39) missense probably damaging 1.00
R9381:H2-Q1 UTSW 17 35,542,138 (GRCm39) missense probably damaging 1.00
R9454:H2-Q1 UTSW 17 35,540,349 (GRCm39) missense probably damaging 1.00
R9622:H2-Q1 UTSW 17 35,542,532 (GRCm39) missense probably benign 0.23
Predicted Primers PCR Primer
(F):5'- CCACTGGCTCATGTGGATTCCATC -3'
(R):5'- ATTCTGCTCCTTCCCAAGAGGCAC -3'

Sequencing Primer
(F):5'- TGGATTCCATCATAGCTTCTGAG -3'
(R):5'- GAGGCACCACCACAGATG -3'
Posted On 2013-04-24