Incidental Mutation 'R7303:H2-Q1'
ID 567131
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 045364-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R7303 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 35539381-35544075 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 35540312 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 132 (S132R)
Ref Sequence ENSEMBL: ENSMUSP00000072942 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073208] [ENSMUST00000105041]
AlphaFold O19441
Predicted Effect probably benign
Transcript: ENSMUST00000073208
AA Change: S132R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000072942
Gene: ENSMUSG00000079507
AA Change: S132R

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 benign
Transcript: ENSMUST00000105041
AA Change: S132R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000100662
Gene: ENSMUSG00000079507
AA Change: S132R

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T G 17: 24,617,495 (GRCm39) L1064R possibly damaging Het
Abca7 A T 10: 79,850,822 (GRCm39) D2051V probably benign Het
Abcb5 T A 12: 118,875,295 (GRCm39) I626F probably damaging Het
Abcg5 A G 17: 84,977,774 (GRCm39) S333P probably damaging Het
Abl2 T C 1: 156,468,820 (GRCm39) S695P probably benign Het
Aen C T 7: 78,552,204 (GRCm39) P55S possibly damaging Het
Afg3l1 G T 8: 124,228,008 (GRCm39) A598S probably damaging Het
Aldh16a1 A T 7: 44,797,328 (GRCm39) L160Q probably damaging Het
Ang A T 14: 51,338,973 (GRCm39) H38L probably benign Het
Ankar A T 1: 72,698,192 (GRCm39) I954N probably benign Het
Aox1 A T 1: 58,373,924 (GRCm39) K862* probably null Het
Brme1 G C 8: 84,887,862 (GRCm39) G71A probably benign Het
Cad T C 5: 31,217,557 (GRCm39) probably null Het
Cc2d2b A T 19: 40,797,438 (GRCm39) Y740F unknown Het
Ccdc182 T C 11: 88,185,042 (GRCm39) Y41H probably benign Het
Chd9 A G 8: 91,778,532 (GRCm39) R2848G unknown Het
Chrna6 A T 8: 27,897,019 (GRCm39) L286* probably null Het
Cimap1d G A 10: 79,478,525 (GRCm39) P80S probably benign Het
Cracr2b A G 7: 141,043,115 (GRCm39) probably benign Het
Fam184b C T 5: 45,699,568 (GRCm39) probably null Het
Flnc T C 6: 29,460,849 (GRCm39) S2647P probably benign Het
Ftsj3 T C 11: 106,145,506 (GRCm39) D76G probably damaging Het
Fxyd1 T A 7: 30,753,743 (GRCm39) M17L probably benign Het
Golim4 G A 3: 75,785,360 (GRCm39) S677L probably damaging Het
Gpr149 A G 3: 62,502,491 (GRCm39) V455A possibly damaging Het
H2-Q7 A G 17: 35,659,037 (GRCm39) I163V probably benign Het
Herc1 A T 9: 66,358,098 (GRCm39) D2393V possibly damaging Het
Hmgb2 A G 8: 57,965,762 (GRCm39) K44E possibly damaging Het
Itgad A G 7: 127,789,351 (GRCm39) D605G probably benign Het
Kbtbd12 G T 6: 88,591,094 (GRCm39) F16L unknown Het
Klhl23 T C 2: 69,655,045 (GRCm39) I305T probably benign Het
Lrguk A T 6: 34,006,411 (GRCm39) N7I probably benign Het
Lrp5 A G 19: 3,641,774 (GRCm39) L1396P probably damaging Het
Mapkapk5 T C 5: 121,678,637 (GRCm39) E13G probably benign Het
Mark3 T C 12: 111,621,970 (GRCm39) V704A probably damaging Het
Mast2 A G 4: 116,165,508 (GRCm39) S1303P possibly damaging Het
Mcm2 T C 6: 88,864,928 (GRCm39) D516G probably damaging Het
Mon2 A T 10: 122,874,364 (GRCm39) probably null Het
Mrc2 T A 11: 105,216,629 (GRCm39) N139K probably damaging Het
Myh14 C T 7: 44,261,125 (GRCm39) E1789K probably damaging Het
Myh7b T A 2: 155,460,660 (GRCm39) L271Q probably damaging Het
Oog2 A T 4: 143,921,912 (GRCm39) H274L probably benign Het
Oosp1 A C 19: 11,645,774 (GRCm39) S121R probably benign Het
Or13a28 T C 7: 140,218,267 (GRCm39) S218P probably damaging Het
Or8k3b A G 2: 86,521,166 (GRCm39) V51A probably benign Het
Pepd T C 7: 34,721,197 (GRCm39) probably null Het
Pik3c2a A C 7: 116,005,178 (GRCm39) S363R probably benign Het
Polr2b T C 5: 77,468,868 (GRCm39) Y215H probably benign Het
Ppcdc A T 9: 57,321,958 (GRCm39) V194E probably benign Het
Rabgap1l A C 1: 160,509,667 (GRCm39) I470S probably benign Het
Scgb1b3 G A 7: 31,075,383 (GRCm39) A78T probably benign Het
Slc9a5 T A 8: 106,083,345 (GRCm39) L368Q probably damaging Het
Spef2 T A 15: 9,647,576 (GRCm39) I944F possibly damaging Het
Syne1 T A 10: 5,206,805 (GRCm39) H3461L probably benign Het
Tas2r134 A G 2: 51,518,145 (GRCm39) Y208C probably benign Het
Tasor A G 14: 27,193,809 (GRCm39) E1003G probably damaging Het
Tm9sf3 G A 19: 41,227,198 (GRCm39) S291F probably damaging Het
Tra2a G A 6: 49,227,921 (GRCm39) T69I unknown Het
Ube2q1 T A 3: 89,683,898 (GRCm39) L171Q possibly damaging Het
Ufd1 A G 16: 18,636,715 (GRCm39) T78A probably damaging Het
Vmn1r13 T C 6: 57,187,587 (GRCm39) S249P probably damaging Het
Wdr91 G A 6: 34,861,258 (GRCm39) S648L probably benign Het
Zfp51 T A 17: 21,684,058 (GRCm39) N224K 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
R0380:H2-Q1 UTSW 17 35,542,054 (GRCm39) missense probably damaging 1.00
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
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'- TCAAGTCCCAGGTTCAGGAG -3'
(R):5'- AGGGTTTCTTCTTCCCCAGGAC -3'

Sequencing Primer
(F):5'- GTTCAGGAGCAGAACTGACCC -3'
(R):5'- TCCAGGTATCTGTGGAGCCAC -3'
Posted On 2019-06-26