Incidental Mutation 'R9454:H2-Q1'
ID 714503
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R9454 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 35539381-35544075 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 35540349 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 145 (I145F)
Ref Sequence ENSEMBL: ENSMUSP00000072942 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073208] [ENSMUST00000105041]
AlphaFold O19441
Predicted Effect probably damaging
Transcript: ENSMUST00000073208
AA Change: I145F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000072942
Gene: ENSMUSG00000079507
AA Change: I145F

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: I145F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100662
Gene: ENSMUSG00000079507
AA Change: I145F

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: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 G T 18: 61,952,067 (GRCm39) H431Q possibly damaging Het
Adam25 A T 8: 41,207,486 (GRCm39) I251F probably damaging Het
Ankrd31 A T 13: 96,916,842 (GRCm39) T119S probably damaging Het
Ankrd31 T C 13: 96,916,846 (GRCm39) V120A possibly damaging Het
Anks6 T C 4: 47,016,789 (GRCm39) E809G possibly damaging Het
Arhgap21 A T 2: 20,870,153 (GRCm39) S928T probably damaging Het
Arhgef10l G T 4: 140,308,236 (GRCm39) S39* probably null Het
Aspm G A 1: 139,408,732 (GRCm39) E2540K probably benign Het
Atp10a T C 7: 58,308,339 (GRCm39) I46T probably benign Het
Atp13a5 C A 16: 29,133,338 (GRCm39) V483L possibly damaging Het
BC028528 T C 3: 95,797,082 (GRCm39) D29G possibly damaging Het
Ccdc187 T A 2: 26,166,114 (GRCm39) T772S possibly damaging Het
Ccnh G A 13: 85,350,521 (GRCm39) A199T probably benign Het
Cfap65 A T 1: 74,944,210 (GRCm39) Y1504N probably damaging Het
Ckap2 C A 8: 22,665,899 (GRCm39) E383* probably null Het
Clec4n T C 6: 123,212,532 (GRCm39) V116A possibly damaging Het
Cmc2 G T 8: 117,616,550 (GRCm39) D58E unknown Het
Cntn6 A G 6: 104,781,308 (GRCm39) K465E possibly damaging Het
Col6a6 G A 9: 105,661,059 (GRCm39) A350V probably damaging Het
Cps1 A G 1: 67,219,311 (GRCm39) I884V probably damaging Het
E2f7 C T 10: 110,620,542 (GRCm39) A853V probably benign Het
E330034G19Rik A T 14: 24,346,860 (GRCm39) Q114L unknown Het
Egfr G T 11: 16,837,155 (GRCm39) G632V probably damaging Het
Fam98b T C 2: 117,080,250 (GRCm39) M1T probably null Het
Fcgr2b T A 1: 170,788,657 (GRCm39) I317F probably damaging Het
Galntl6 T C 8: 58,411,435 (GRCm39) D265G probably damaging Het
Gm4922 A G 10: 18,660,329 (GRCm39) L131P probably damaging Het
H1f7 T C 15: 98,154,823 (GRCm39) I109V probably benign Het
Heatr5a AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA 12: 51,934,702 (GRCm39) probably benign Het
Ica1 A T 6: 8,667,288 (GRCm39) S293T probably benign Het
Ift70a2 T A 2: 75,806,812 (GRCm39) I567F probably benign Het
Klra5 C A 6: 129,883,686 (GRCm39) W147L possibly damaging Het
Magi2 G T 5: 20,671,176 (GRCm39) V507F probably damaging Het
Malrd1 T C 2: 15,757,660 (GRCm39) I978T unknown Het
Malrd1 G A 2: 15,802,537 (GRCm39) W1083* probably null Het
Mgarp T C 3: 51,303,902 (GRCm39) T10A probably damaging Het
Mtnr1a A G 8: 45,538,612 (GRCm39) I17V Het
Muc5ac C T 7: 141,362,431 (GRCm39) T1914I unknown Het
Naf1 GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC 8: 67,313,200 (GRCm39) probably benign Het
Nav3 T C 10: 109,835,864 (GRCm39) T73A probably benign Het
Or4b1 A C 2: 89,979,820 (GRCm39) C177G probably damaging Het
Or8k21 A T 2: 86,145,178 (GRCm39) Y151N probably damaging Het
Pclo T A 5: 14,762,452 (GRCm39) S357T probably benign Het
Pkdrej T A 15: 85,702,420 (GRCm39) N1172I probably benign Het
Psmb9 G A 17: 34,402,078 (GRCm39) R173C probably benign Het
Ralgapb T A 2: 158,315,072 (GRCm39) H1146Q probably benign Het
Raph1 T A 1: 60,528,753 (GRCm39) Q836L unknown Het
Rcc1 A G 4: 132,062,074 (GRCm39) S280P probably damaging Het
Recql T C 6: 142,320,617 (GRCm39) M144V possibly damaging Het
Rela T C 19: 5,695,368 (GRCm39) I298T probably damaging Het
Rfc1 T A 5: 65,431,774 (GRCm39) I792F Het
Rnf31 A G 14: 55,833,609 (GRCm39) E539G Het
Rrp9 T C 9: 106,360,840 (GRCm39) S274P possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,130 (GRCm39) probably benign Het
Scmh1 A G 4: 120,372,276 (GRCm39) I360V probably benign Het
Sh3yl1 T C 12: 30,990,420 (GRCm39) probably null Het
Shisa9 T C 16: 11,802,523 (GRCm39) S27P probably benign Het
Slc17a4 A G 13: 24,085,910 (GRCm39) V359A probably benign Het
Slfn5 C A 11: 82,850,885 (GRCm39) A394E probably benign Het
Sun3 A G 11: 8,988,281 (GRCm39) F14L probably benign Het
Surf1 A T 2: 26,804,808 (GRCm39) D148E possibly damaging Het
Syne2 A T 12: 76,141,844 (GRCm39) K1388* probably null Het
Syne2 A G 12: 76,067,275 (GRCm39) K4325E probably damaging Het
Tacr1 A G 6: 82,531,853 (GRCm39) M250V probably damaging Het
Tenm2 T C 11: 36,112,286 (GRCm39) T420A probably benign Het
Tm7sf3 C A 6: 146,520,041 (GRCm39) A282S probably benign Het
Tmf1 T C 6: 97,155,866 (GRCm39) E40G probably benign Het
Tnfrsf12a A G 17: 23,895,491 (GRCm39) probably null Het
Unc80 C A 1: 66,734,749 (GRCm39) H3325Q possibly damaging Het
Vamp9 C T 5: 100,070,952 (GRCm39) P76S probably damaging Het
Zfp142 A G 1: 74,609,016 (GRCm39) L1593S probably damaging Het
Zfp869 T A 8: 70,159,241 (GRCm39) Y444F probably benign Het
Zscan10 G A 17: 23,826,619 (GRCm39) probably null 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
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
R9622:H2-Q1 UTSW 17 35,542,532 (GRCm39) missense probably benign 0.23
Predicted Primers PCR Primer
(F):5'- GGACCGGATTCCCTTTCAGTTC -3'
(R):5'- AGCTGAGGGTTTCTTCTTCC -3'

Sequencing Primer
(F):5'- CAGTTCTGTGGAGTCGCGC -3'
(R):5'- GAGGGTTTCTTCTTCCCCAGGAC -3'
Posted On 2022-06-15