Incidental Mutation 'R3782:H2-Q10'
ID 272102
Institutional Source Beutler Lab
Gene Symbol H2-Q10
Ensembl Gene ENSMUSG00000067235
Gene Name histocompatibility 2, Q region locus 10
Synonyms H-2Q10, Q10, Qa10
MMRRC Submission 040751-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3782 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 35780986-35785460 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35781915 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 179 (Y179C)
Ref Sequence ENSEMBL: ENSMUSP00000134163 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068291] [ENSMUST00000174525]
AlphaFold P01898
Predicted Effect possibly damaging
Transcript: ENSMUST00000068291
AA Change: Y179C

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000066419
Gene: ENSMUSG00000067235
AA Change: Y179C

DomainStartEndE-ValueType
low complexity region 9 18 N/A INTRINSIC
Pfam:MHC_I 25 203 5.8e-98 PFAM
IGc1 222 293 8.23e-23 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000174525
AA Change: Y179C

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000134163
Gene: ENSMUSG00000067235
AA Change: Y179C

DomainStartEndE-ValueType
low complexity region 9 18 N/A INTRINSIC
Pfam:MHC_I 25 203 3.3e-99 PFAM
IGc1 222 293 8.23e-23 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174589
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.1%
Validation Efficiency 100% (42/42)
MGI Phenotype PHENOTYPE: Unlike other class I genes, this gene is expressed only in liver cells and its product is secreted into the serum. The amount of protein in serum varies among inbred strains with different H2 haplotypes and is completely absent in the H2f strain B10.M. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aimp2 T A 5: 143,843,517 (GRCm39) K24N possibly damaging Het
Atf6 A T 1: 170,622,336 (GRCm39) Y428* probably null Het
BC034090 T C 1: 155,102,024 (GRCm39) E80G probably damaging Het
Calcr T C 6: 3,700,193 (GRCm39) T263A possibly damaging Het
Cdh20 T A 1: 109,976,734 (GRCm39) V133E probably benign Het
Cpsf3 A C 12: 21,350,067 (GRCm39) E262A possibly damaging Het
Ddx5 T C 11: 106,675,346 (GRCm39) I330V probably benign Het
Dlg5 A G 14: 24,240,378 (GRCm39) probably benign Het
Enam A T 5: 88,650,674 (GRCm39) S653C probably damaging Het
Fndc3b A T 3: 27,514,135 (GRCm39) V682D possibly damaging Het
Guf1 A T 5: 69,724,495 (GRCm39) M396L probably benign Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Hpgd G A 8: 56,751,453 (GRCm39) V94M probably damaging Het
Ktn1 G A 14: 47,943,860 (GRCm39) probably benign Het
Lama5 T G 2: 179,836,356 (GRCm39) H1165P possibly damaging Het
Lrrfip1 A G 1: 91,039,911 (GRCm39) T205A possibly damaging Het
Mcm7 G A 5: 138,162,998 (GRCm39) R385W probably damaging Het
Mgat4c A G 10: 102,224,782 (GRCm39) E332G probably benign Het
Mpp7 A T 18: 7,351,085 (GRCm39) H537Q probably damaging Het
Mx1 T C 16: 97,253,195 (GRCm39) D380G possibly damaging Het
Nckap5 T A 1: 125,952,811 (GRCm39) Q1183L possibly damaging Het
Nkx1-2 A G 7: 132,199,161 (GRCm39) V200A probably damaging Het
Nr3c2 T A 8: 77,812,313 (GRCm39) probably null Het
Nsmce1 C T 7: 125,085,549 (GRCm39) V47I probably benign Het
Nudt3 A G 17: 27,799,782 (GRCm39) S134P possibly damaging Het
Or1e26 C A 11: 73,479,839 (GRCm39) G242C probably damaging Het
Or1e26 A T 11: 73,480,194 (GRCm39) Y123* probably null Het
Or5g9 G A 2: 85,552,040 (GRCm39) C97Y probably damaging Het
Pcnx1 A G 12: 82,042,892 (GRCm39) T2325A probably benign Het
Phactr4 A T 4: 132,095,178 (GRCm39) probably null Het
Rnf7l T A 10: 63,257,472 (GRCm39) H16L probably benign Het
Serpinb6d T A 13: 33,848,097 (GRCm39) D20E probably benign Het
Spta1 A T 1: 174,035,880 (GRCm39) Y1062F probably damaging Het
Ssc5d A G 7: 4,945,790 (GRCm39) T941A probably benign Het
Taf11 A G 17: 28,122,167 (GRCm39) probably benign Het
Tax1bp1 A G 6: 52,716,533 (GRCm39) H286R probably damaging Het
Tmem62 T A 2: 120,807,948 (GRCm39) W57R probably damaging Het
Vmn2r111 T C 17: 22,790,301 (GRCm39) Y235C possibly damaging Het
Vmn2r22 T A 6: 123,627,591 (GRCm39) K2* probably null Het
Vmn2r74 A G 7: 85,605,322 (GRCm39) V442A probably benign Het
Other mutations in H2-Q10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01893:H2-Q10 APN 17 35,784,168 (GRCm39) missense probably damaging 1.00
IGL02003:H2-Q10 APN 17 35,781,338 (GRCm39) missense probably benign 0.01
IGL02308:H2-Q10 APN 17 35,784,463 (GRCm39) makesense probably null
IGL02804:H2-Q10 APN 17 35,784,147 (GRCm39) missense probably damaging 1.00
gomez UTSW 17 35,784,917 (GRCm39) utr 3 prime probably benign
lurch UTSW 17 35,781,915 (GRCm39) missense possibly damaging 0.92
R0278:H2-Q10 UTSW 17 35,784,204 (GRCm39) missense possibly damaging 0.83
R1679:H2-Q10 UTSW 17 35,784,492 (GRCm39) utr 3 prime probably benign
R1919:H2-Q10 UTSW 17 35,781,385 (GRCm39) missense probably damaging 1.00
R3781:H2-Q10 UTSW 17 35,781,915 (GRCm39) missense possibly damaging 0.92
R4614:H2-Q10 UTSW 17 35,784,917 (GRCm39) utr 3 prime probably benign
R4814:H2-Q10 UTSW 17 35,784,481 (GRCm39) utr 3 prime probably benign
R4870:H2-Q10 UTSW 17 35,781,357 (GRCm39) missense probably damaging 1.00
R6063:H2-Q10 UTSW 17 35,781,026 (GRCm39) missense probably benign 0.13
R7448:H2-Q10 UTSW 17 35,784,457 (GRCm39) missense not run
R7728:H2-Q10 UTSW 17 35,781,735 (GRCm39) missense probably damaging 0.98
R8034:H2-Q10 UTSW 17 35,781,338 (GRCm39) missense probably damaging 1.00
R8172:H2-Q10 UTSW 17 35,781,996 (GRCm39) missense probably null 1.00
R8233:H2-Q10 UTSW 17 35,781,983 (GRCm39) missense probably benign 0.28
R8400:H2-Q10 UTSW 17 35,781,374 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCAGTGGATGTATGGCTGTAAAG -3'
(R):5'- GTCACTGTGATGAGGGATCAGG -3'

Sequencing Primer
(F):5'- CTGTAAAGTGGGGTCCGAC -3'
(R):5'- TCTGAGACAGGGGCATCAC -3'
Posted On 2015-03-25