Incidental Mutation 'PIT4531001:H2-Q1'
ID 556476
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # PIT4531001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 35539381-35544075 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35539892 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 54 (F54L)
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: F54L

PolyPhen 2 Score 0.368 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000072942
Gene: ENSMUSG00000079507
AA Change: F54L

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 possibly damaging
Transcript: ENSMUST00000105041
AA Change: F54L

PolyPhen 2 Score 0.641 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000100662
Gene: ENSMUSG00000079507
AA Change: F54L

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: 93.0%
  • 3x: 90.6%
  • 10x: 84.3%
  • 20x: 70.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adpgk T G 9: 59,217,600 (GRCm39) D204E probably damaging Het
Aqr C A 2: 113,961,215 (GRCm39) V682L possibly damaging Het
Bmper A T 9: 23,136,113 (GRCm39) N65Y possibly damaging Het
Calb1 T C 4: 15,900,925 (GRCm39) L171P probably damaging Het
Card11 T C 5: 140,892,415 (GRCm39) M217V probably damaging Het
Col11a2 A G 17: 34,265,412 (GRCm39) probably null Het
Dpm1 T C 2: 168,052,472 (GRCm39) T255A probably benign Het
Efhb A G 17: 53,752,803 (GRCm39) Y440H probably damaging Het
Elp2 T C 18: 24,737,170 (GRCm39) V40A probably damaging Het
Far2 A T 6: 148,076,629 (GRCm39) N491Y possibly damaging Het
Frem1 T A 4: 82,868,517 (GRCm39) H1488L probably benign Het
Frrs1l C A 4: 56,990,144 (GRCm39) R43L unknown Het
Galnt3 G A 2: 65,937,432 (GRCm39) R93C probably benign Het
Gm8225 A G 17: 26,762,363 (GRCm39) T185A possibly damaging Het
Hoxc12 T G 15: 102,846,855 (GRCm39) L249W probably damaging Het
Lrrc75b A T 10: 75,393,099 (GRCm39) H83Q probably damaging Het
Muc4 A T 16: 32,576,391 (GRCm39) T1964S unknown Het
Nob1 T C 8: 108,145,049 (GRCm39) D142G probably benign Het
Or2y1d T C 11: 49,321,753 (GRCm39) V150A probably benign Het
Or4p19 A T 2: 88,242,104 (GRCm39) H299Q probably benign Het
Or4p22 A T 2: 88,317,601 (GRCm39) Y175F possibly damaging Het
Or5b24 G A 19: 12,912,641 (GRCm39) D180N probably damaging Het
Or5d16 A G 2: 87,773,571 (GRCm39) Y134H probably damaging Het
Patj A T 4: 98,329,327 (GRCm39) N527I probably damaging Het
Pik3c2g A G 6: 139,805,096 (GRCm39) I543V Het
Ppp1r2 A T 16: 31,077,279 (GRCm39) N150K probably damaging Het
Prl7d1 A T 13: 27,894,161 (GRCm39) L135Q probably damaging Het
Ralgds G T 2: 28,435,226 (GRCm39) E461* probably null Het
Ramac C T 7: 81,417,327 (GRCm39) P9L possibly damaging Het
Rasa3 T A 8: 13,655,887 (GRCm39) H116L probably benign Het
Sec24d C T 3: 123,136,827 (GRCm39) P520L probably damaging Het
Sfmbt1 T G 14: 30,518,283 (GRCm39) S376A probably benign Het
Sspo A G 6: 48,458,173 (GRCm39) T3290A probably benign Het
Stk25 G A 1: 93,552,346 (GRCm39) P345S probably benign Het
Sycp2l A G 13: 41,300,148 (GRCm39) E454G probably null Het
Tecpr1 T C 5: 144,150,885 (GRCm39) K308E probably damaging Het
Thtpa C T 14: 55,332,962 (GRCm39) P16S probably damaging Het
Trim65 T A 11: 116,018,535 (GRCm39) I247F possibly damaging Het
Trpc6 T G 9: 8,610,149 (GRCm39) Y206D probably benign Het
Ttn G A 2: 76,703,307 (GRCm39) T9357I unknown Het
Ugt2b1 C A 5: 87,074,342 (GRCm39) A6S probably benign Het
Vmn1r175 A G 7: 23,508,603 (GRCm39) V8A possibly damaging Het
Vps13b T A 15: 35,878,971 (GRCm39) I2990N probably damaging Het
Xirp2 G A 2: 67,345,826 (GRCm39) R2689Q possibly damaging Het
Zfp831 T A 2: 174,488,516 (GRCm39) Y1064N possibly damaging 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
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
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'- TATTCCAGATGGGGCAATGGC -3'
(R):5'- CCCTTGCTCTGGTTGTAGTAGC -3'

Sequencing Primer
(F):5'- GCTCTGAGAAGAGGGTCGC -3'
(R):5'- TAGTAGCTGAGCAGGGTGC -3'
Posted On 2019-06-07