Incidental Mutation 'R7991:H2-Q1'
ID 651768
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 046032-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R7991 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 35539381-35544075 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 35540356 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 147 (L147Q)
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: L147Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072942
Gene: ENSMUSG00000079507
AA Change: L147Q

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: L147Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100662
Gene: ENSMUSG00000079507
AA Change: L147Q

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: 99.2%
Validation Efficiency 100% (64/64)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 A G 18: 59,185,726 (GRCm39) D1200G probably damaging Het
Adnp2 A G 18: 80,172,537 (GRCm39) L624P probably damaging Het
Akap9 A G 5: 4,114,949 (GRCm39) probably null Het
Ap2a2 A G 7: 141,189,760 (GRCm39) Y249C probably damaging Het
Asxl2 A T 12: 3,534,531 (GRCm39) N243Y probably damaging Het
Btnl4 A G 17: 34,693,257 (GRCm39) S53P probably damaging Het
Caly T C 7: 139,651,513 (GRCm39) D116G possibly damaging Het
Ccdc121rt2 G A 5: 112,598,791 (GRCm39) R446H probably benign Het
Ccdc168 T A 1: 44,098,869 (GRCm39) H743L probably benign Het
Ccdc81 G A 7: 89,539,609 (GRCm39) A209V probably benign Het
Cdc14a A G 3: 116,101,887 (GRCm39) S347P probably benign Het
Cdh9 G T 15: 16,828,489 (GRCm39) A194S probably damaging Het
Clca3a2 A G 3: 144,519,756 (GRCm39) V206A probably benign Het
Clca4a A T 3: 144,658,500 (GRCm39) V905E possibly damaging Het
Cluap1 A G 16: 3,746,485 (GRCm39) E282G probably damaging Het
Cmtm2b T A 8: 105,056,419 (GRCm39) C109* probably null Het
Crtac1 T C 19: 42,322,399 (GRCm39) N114D probably benign Het
Dennd1b T C 1: 139,013,634 (GRCm39) Y168H Het
Dock6 T C 9: 21,757,858 (GRCm39) D82G probably damaging Het
Eps8 C T 6: 137,505,569 (GRCm39) R53Q possibly damaging Het
Erfl G A 7: 24,627,975 (GRCm39) P185S possibly damaging Het
Fh1 T C 1: 175,437,337 (GRCm39) Y254C probably damaging Het
H3c8 T A 13: 23,719,887 (GRCm39) M91K probably benign Het
Hnrnpu A T 1: 178,159,871 (GRCm39) D403E unknown Het
Il34 T C 8: 111,476,122 (GRCm39) K33E probably benign Het
Klhl20 A G 1: 160,934,434 (GRCm39) V195A possibly damaging Het
Lair1 G T 7: 4,031,969 (GRCm39) T46N probably damaging Het
Lama4 A G 10: 38,921,805 (GRCm39) E442G possibly damaging Het
Lifr A T 15: 7,202,963 (GRCm39) I400F possibly damaging Het
Man2a1 T C 17: 64,908,771 (GRCm39) I14T probably benign Het
Or13p10 T A 4: 118,523,489 (GRCm39) C258* probably null Het
Or1ad8 T G 11: 50,898,071 (GRCm39) S91A possibly damaging Het
Or4z4 A C 19: 12,076,190 (GRCm39) V271G possibly damaging Het
Or51h7 A G 7: 102,591,760 (GRCm39) L8P probably benign Het
Or5an10 T A 19: 12,275,639 (GRCm39) I286F probably damaging Het
Or8s10 T C 15: 98,335,419 (GRCm39) I23T probably benign Het
Papss2 G T 19: 32,629,403 (GRCm39) V331F possibly damaging Het
Pcdha11 T C 18: 37,145,909 (GRCm39) S667P probably damaging Het
Pcolce A T 5: 137,607,390 (GRCm39) S75T probably benign Het
Phf20l1 A C 15: 66,502,768 (GRCm39) D716A possibly damaging Het
Pkd1 A G 17: 24,791,595 (GRCm39) E1094G possibly damaging Het
Ppm1h A G 10: 122,618,152 (GRCm39) K104E probably benign Het
Ppp6r3 T C 19: 3,509,750 (GRCm39) Y195C probably benign Het
Pramel6 T A 2: 87,340,031 (GRCm39) L265Q probably benign Het
Prc1 A T 7: 79,961,969 (GRCm39) N489I possibly damaging Het
Prss59 A C 6: 40,905,444 (GRCm39) probably null Het
Psg22 A C 7: 18,460,861 (GRCm39) N497H probably damaging Het
Pum3 T A 19: 27,389,620 (GRCm39) I411F possibly damaging Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Rev3l A T 10: 39,739,734 (GRCm39) I2861L possibly damaging Het
Rsf1 A C 7: 97,310,540 (GRCm39) K423N Het
Samd4b A G 7: 28,103,458 (GRCm39) I553T probably benign Het
Septin3 A G 15: 82,170,654 (GRCm39) E216G probably benign Het
Sppl2c T C 11: 104,078,640 (GRCm39) V480A possibly damaging Het
Sppl2c A G 11: 104,078,189 (GRCm39) T330A probably benign Het
Srebf2 A G 15: 82,088,253 (GRCm39) D1073G probably damaging Het
Sv2c C T 13: 96,224,797 (GRCm39) V171M probably damaging Het
Tbc1d4 T A 14: 101,845,715 (GRCm39) E61V probably damaging Het
Tnc T A 4: 63,926,983 (GRCm39) T848S probably benign Het
Trmt5 A G 12: 73,329,439 (GRCm39) Y240H probably damaging Het
Trpv1 T C 11: 73,132,583 (GRCm39) V399A possibly damaging Het
Tstd2 T C 4: 46,133,646 (GRCm39) T59A unknown Het
Ubash3a T A 17: 31,456,869 (GRCm39) L510M probably benign Het
Ubr3 T A 2: 69,783,200 (GRCm39) I713N probably damaging Het
Upf3a A G 8: 13,842,166 (GRCm39) E194G probably damaging Het
Usp22 A T 11: 61,065,588 (GRCm39) Y42N probably benign Het
Vav3 T A 3: 109,470,478 (GRCm39) C555S probably damaging Het
Vmn1r210 T A 13: 23,011,684 (GRCm39) M201L probably benign Het
Wdr64 C A 1: 175,554,051 (GRCm39) Q194K 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
R7303:H2-Q1 UTSW 17 35,540,312 (GRCm39) missense probably benign 0.00
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'- GTTCAGGAGCAGAACTGACC -3'
(R):5'- AGGGTTTCTTCTTCCCCAGGAC -3'

Sequencing Primer
(F):5'- GGACCGGATTCCCTTTCAG -3'
(R):5'- TCTTCCCCAGGACTGAGC -3'
Posted On 2020-09-15