Incidental Mutation 'IGL02804:H2-Q10'
ID360334
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2-Q10
Ensembl Gene ENSMUSG00000067235
Gene Namehistocompatibility 2, Q region locus 10
SynonymsH-2Q10, Qa10, Q10
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02804
Quality Score
Status
Chromosome17
Chromosomal Location35470089-35474563 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 35473250 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Arginine at position 263 (G263R)
Ref Sequence ENSEMBL: ENSMUSP00000134163 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068291] [ENSMUST00000174525]
Predicted Effect probably damaging
Transcript: ENSMUST00000068291
AA Change: G263R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066419
Gene: ENSMUSG00000067235
AA Change: G263R

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 probably damaging
Transcript: ENSMUST00000174525
AA Change: G263R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134163
Gene: ENSMUSG00000067235
AA Change: G263R

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
Coding Region Coverage
Validation Efficiency
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik G T 7: 28,153,370 V1361L probably benign Het
Aftph T C 11: 20,726,107 T501A possibly damaging Het
Agrn A G 4: 156,174,055 S985P probably benign Het
Atxn7l1 T A 12: 33,367,789 S650T probably damaging Het
Camk2d G A 3: 126,797,738 E286K possibly damaging Het
Card10 A G 15: 78,802,449 V56A probably damaging Het
Gm10471 T A 5: 26,086,431 K126* probably null Het
Gm436 A T 4: 144,670,439 I241N possibly damaging Het
Herc4 A C 10: 63,285,675 K365Q probably benign Het
Klhl33 T C 14: 50,892,954 H101R probably damaging Het
Lef1 A G 3: 131,194,689 N236D probably damaging Het
Lipg T A 18: 74,949,088 N255Y probably damaging Het
Lrp5 T C 19: 3,600,777 D1219G possibly damaging Het
Myh7b T C 2: 155,625,723 L756P probably damaging Het
Nnt A G 13: 119,381,674 probably null Het
Olfr794 T C 10: 129,571,437 S261P possibly damaging Het
Pcsk9 A G 4: 106,456,964 Y145H probably damaging Het
Prkag1 G A 15: 98,815,504 S69L probably damaging Het
Prkd2 C A 7: 16,855,890 R506S probably benign Het
Ralgapb T A 2: 158,426,284 D102E possibly damaging Het
Rbm44 A G 1: 91,150,176 probably benign Het
Snap23 T C 2: 120,586,156 probably benign Het
Sntg1 T A 1: 8,803,958 probably benign Het
Strbp T C 2: 37,624,486 probably benign Het
Tmem217 G A 17: 29,526,481 L92F probably damaging Het
Troap G A 15: 99,077,671 probably null Het
Vmn1r16 T C 6: 57,323,482 M52V probably benign Het
Wwox G A 8: 114,712,013 G273E probably damaging Het
Zbp1 T A 2: 173,209,146 K310N probably damaging Het
Zfp423 T A 8: 87,782,657 H332L probably benign Het
Other mutations in H2-Q10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01893:H2-Q10 APN 17 35473271 missense probably damaging 1.00
IGL02003:H2-Q10 APN 17 35470441 missense probably benign 0.01
IGL02308:H2-Q10 APN 17 35473566 makesense probably null
gomez UTSW 17 35474020 utr 3 prime probably benign
lurch UTSW 17 35471018 missense possibly damaging 0.92
R0278:H2-Q10 UTSW 17 35473307 missense possibly damaging 0.83
R1679:H2-Q10 UTSW 17 35473595 utr 3 prime probably benign
R1919:H2-Q10 UTSW 17 35470488 missense probably damaging 1.00
R3781:H2-Q10 UTSW 17 35471018 missense possibly damaging 0.92
R3782:H2-Q10 UTSW 17 35471018 missense possibly damaging 0.92
R4614:H2-Q10 UTSW 17 35474020 utr 3 prime probably benign
R4814:H2-Q10 UTSW 17 35473584 utr 3 prime probably benign
R4870:H2-Q10 UTSW 17 35470460 missense probably damaging 1.00
R6063:H2-Q10 UTSW 17 35470129 missense probably benign 0.13
R7448:H2-Q10 UTSW 17 35473560 missense not run
R7728:H2-Q10 UTSW 17 35470838 missense probably damaging 0.98
R8034:H2-Q10 UTSW 17 35470441 missense probably damaging 1.00
R8172:H2-Q10 UTSW 17 35471099 missense probably null 1.00
R8233:H2-Q10 UTSW 17 35471086 missense probably benign 0.28
R8400:H2-Q10 UTSW 17 35470477 missense probably damaging 1.00
Posted On2015-12-18