Incidental Mutation 'IGL02081:H2-Q2'
ID 192576
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2-Q2
Ensembl Gene ENSMUSG00000091705
Gene Name histocompatibility 2, Q region locus 2
Synonyms Gm11132, H-2Q2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # IGL02081
Quality Score
Status
Chromosome 17
Chromosomal Location 35561283-35565740 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35561684 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 58 (D58G)
Ref Sequence ENSEMBL: ENSMUSP00000078138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074806]
AlphaFold Q4KN81
Predicted Effect probably damaging
Transcript: ENSMUST00000074806
AA Change: D58G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078138
Gene: ENSMUSG00000091705
AA Change: D58G

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Pfam:MHC_I 22 200 2.4e-90 PFAM
IGc1 219 290 4.05e-22 SMART
low complexity region 306 325 N/A INTRINSIC
Pfam:MHC_I_C 334 358 1.6e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173115
SMART Domains Protein: ENSMUSP00000133989
Gene: ENSMUSG00000091705

DomainStartEndE-ValueType
SCOP:d1hdma1 2 19 5e-6 SMART
low complexity region 22 41 N/A INTRINSIC
Pfam:MHC_I_C 50 74 1.5e-10 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a G T 8: 44,023,233 (GRCm39) L86I probably damaging Het
Adamts17 C T 7: 66,711,858 (GRCm39) R726C probably damaging Het
Aff1 A G 5: 103,982,171 (GRCm39) K778R probably damaging Het
Agr2 G A 12: 36,045,655 (GRCm39) probably null Het
Alms1 T A 6: 85,597,285 (GRCm39) C1173S possibly damaging Het
Apol7b A G 15: 77,307,736 (GRCm39) L253P possibly damaging Het
Atp10a A T 7: 58,477,604 (GRCm39) T1268S possibly damaging Het
Atr A T 9: 95,765,258 (GRCm39) K1149N probably damaging Het
Bri3bp G A 5: 125,518,961 (GRCm39) probably null Het
Ccser1 T A 6: 61,288,152 (GRCm39) L105* probably null Het
Cyp4a10 G A 4: 115,378,369 (GRCm39) A152T possibly damaging Het
Dock2 C T 11: 34,204,355 (GRCm39) D1396N probably benign Het
Ext1 A T 15: 52,936,842 (GRCm39) Y634* probably null Het
Fbh1 T C 2: 11,768,938 (GRCm39) D285G probably benign Het
Gcn1 A G 5: 115,723,930 (GRCm39) K529E probably damaging Het
Hid1 T C 11: 115,239,332 (GRCm39) D776G possibly damaging Het
Il18r1 A T 1: 40,537,665 (GRCm39) S477C probably damaging Het
Irag1 T C 7: 110,523,281 (GRCm39) probably null Het
Jmjd1c T G 10: 67,055,305 (GRCm39) F242V probably benign Het
Krtap4-1 G A 11: 99,519,010 (GRCm39) probably benign Het
Mms19 A G 19: 41,938,418 (GRCm39) probably null Het
Mpdz T C 4: 81,254,106 (GRCm39) T1009A probably damaging Het
Mrpl22 T C 11: 58,062,647 (GRCm39) I19T probably benign Het
Nup88 A G 11: 70,845,480 (GRCm39) probably benign Het
Or5b94 A T 19: 12,652,180 (GRCm39) I204F probably benign Het
Pnpo T C 11: 96,830,150 (GRCm39) Y183C probably damaging Het
Poln C T 5: 34,286,483 (GRCm39) M228I probably benign Het
Scara5 T C 14: 65,968,104 (GRCm39) W126R possibly damaging Het
Scmh1 T G 4: 120,372,275 (GRCm39) C359W probably damaging Het
Snrpn T C 7: 59,637,194 (GRCm39) I41V possibly damaging Het
St8sia1 T C 6: 142,774,953 (GRCm39) M209V probably benign Het
Stard9 T A 2: 120,495,391 (GRCm39) S89T probably damaging Het
Tet1 T C 10: 62,649,597 (GRCm39) T1667A probably damaging Het
Tmem217 C T 17: 29,745,347 (GRCm39) G128S probably damaging Het
Ttpal A G 2: 163,457,308 (GRCm39) N260S probably benign Het
Vwa2 A G 19: 56,890,668 (GRCm39) D233G probably benign Het
Wdr83 A G 8: 85,802,472 (GRCm39) F258L probably benign Het
Zfp277 A T 12: 40,378,795 (GRCm39) L354* probably null Het
Zfp516 A G 18: 82,973,858 (GRCm39) R19G probably benign Het
Other mutations in H2-Q2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00962:H2-Q2 APN 17 35,561,825 (GRCm39) missense probably damaging 1.00
IGL01148:H2-Q2 APN 17 35,561,654 (GRCm39) missense probably damaging 1.00
IGL03406:H2-Q2 APN 17 35,561,801 (GRCm39) missense probably benign 0.01
R0145:H2-Q2 UTSW 17 35,564,152 (GRCm39) missense probably benign 0.24
R0646:H2-Q2 UTSW 17 35,564,661 (GRCm39) missense probably damaging 1.00
R1889:H2-Q2 UTSW 17 35,564,152 (GRCm39) missense probably benign 0.24
R2055:H2-Q2 UTSW 17 35,564,247 (GRCm39) missense probably benign 0.00
R2152:H2-Q2 UTSW 17 35,564,252 (GRCm39) critical splice donor site probably null
R3898:H2-Q2 UTSW 17 35,561,743 (GRCm39) missense probably damaging 1.00
R4710:H2-Q2 UTSW 17 35,562,278 (GRCm39) missense probably damaging 1.00
R5267:H2-Q2 UTSW 17 35,562,155 (GRCm39) missense probably benign 0.21
R5302:H2-Q2 UTSW 17 35,563,885 (GRCm39) missense probably damaging 1.00
R6134:H2-Q2 UTSW 17 35,562,217 (GRCm39) missense probably damaging 0.98
R6453:H2-Q2 UTSW 17 35,563,871 (GRCm39) missense probably benign 0.07
R6633:H2-Q2 UTSW 17 35,561,363 (GRCm39) missense probably damaging 0.98
R6979:H2-Q2 UTSW 17 35,564,623 (GRCm39) splice site probably null
R8248:H2-Q2 UTSW 17 35,563,841 (GRCm39) missense probably benign
R8306:H2-Q2 UTSW 17 35,561,301 (GRCm39) unclassified probably benign
R8714:H2-Q2 UTSW 17 35,562,338 (GRCm39) missense possibly damaging 0.92
R9640:H2-Q2 UTSW 17 35,562,206 (GRCm39) missense probably damaging 1.00
Z1176:H2-Q2 UTSW 17 35,564,651 (GRCm39) missense probably damaging 1.00
Z1177:H2-Q2 UTSW 17 35,561,318 (GRCm39) missense unknown
Posted On 2014-05-14