Incidental Mutation 'IGL02691:H2-DMb2'
ID 303759
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2-DMb2
Ensembl Gene ENSMUSG00000037548
Gene Name histocompatibility 2, class II, locus Mb2
Synonyms H2-M beta2, H-2Mb2, H2-Mb2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # IGL02691
Quality Score
Status
Chromosome 17
Chromosomal Location 34362281-34370529 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 34366832 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 88 (H88L)
Ref Sequence ENSEMBL: ENSMUSP00000043526 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041982] [ENSMUST00000171231]
AlphaFold Q31099
PDB Structure CRYSTAL STRUCTURE OF MOUSE H2-DM [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000041982
AA Change: H88L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000043526
Gene: ENSMUSG00000037548
AA Change: H88L

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
MHC_II_beta 27 105 7.87e-27 SMART
IGc1 130 202 9.6e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171231
SMART Domains Protein: ENSMUSP00000126533
Gene: ENSMUSG00000037548

DomainStartEndE-ValueType
IGc1 2 71 6.48e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173262
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 T C 4: 128,655,457 (GRCm39) S40P probably benign Het
Actl9 G T 17: 33,652,092 (GRCm39) V51L probably damaging Het
Adcy6 A T 15: 98,502,185 (GRCm39) F143Y probably damaging Het
Agps A T 2: 75,722,204 (GRCm39) I465F probably benign Het
Armc3 T A 2: 19,240,295 (GRCm39) F17L probably damaging Het
Arsk A C 13: 76,223,069 (GRCm39) M176R probably damaging Het
Asz1 G A 6: 18,076,556 (GRCm39) T212I probably damaging Het
Atp6v1a A G 16: 43,931,982 (GRCm39) I102T probably damaging Het
Bpifb6 T A 2: 153,744,565 (GRCm39) L2Q unknown Het
Cad A G 5: 31,212,638 (GRCm39) Y45C probably damaging Het
Ccdc93 A G 1: 121,414,342 (GRCm39) D451G possibly damaging Het
Cenpj A G 14: 56,789,547 (GRCm39) I834T probably benign Het
Cyp2j12 C T 4: 96,021,231 (GRCm39) probably null Het
Dhx8 G A 11: 101,642,830 (GRCm39) probably benign Het
Dync1i1 A G 6: 5,800,767 (GRCm39) probably benign Het
Ell2 T A 13: 75,904,605 (GRCm39) D99E probably damaging Het
Enpp1 G T 10: 24,587,790 (GRCm39) P34T probably damaging Het
Fras1 T A 5: 96,892,564 (GRCm39) V2888E possibly damaging Het
Gmfg A G 7: 28,144,295 (GRCm39) Y40C probably damaging Het
Gnal T C 18: 67,355,746 (GRCm39) I369T probably damaging Het
Gzmn T C 14: 56,404,370 (GRCm39) T156A probably benign Het
Ighv7-3 T C 12: 114,117,016 (GRCm39) T49A probably benign Het
Jakmip3 C T 7: 138,628,573 (GRCm39) Q450* probably null Het
Klhl20 A T 1: 160,934,444 (GRCm39) probably benign Het
Klk6 A G 7: 43,477,924 (GRCm39) T99A probably benign Het
Lhx3 A G 2: 26,093,097 (GRCm39) C118R probably damaging Het
Mapkbp1 T C 2: 119,803,655 (GRCm39) probably benign Het
Naa15 A G 3: 51,358,747 (GRCm39) E294G probably damaging Het
Nfia C T 4: 97,970,045 (GRCm39) Q373* probably null Het
Notch2 C A 3: 98,042,923 (GRCm39) Y1429* probably null Het
Oc90 A G 15: 65,754,410 (GRCm39) S252P probably damaging Het
Or56a3b A G 7: 104,771,338 (GRCm39) I225V probably damaging Het
Or8k37 T C 2: 86,469,182 (GRCm39) Y290C probably damaging Het
Pde3b T A 7: 114,107,320 (GRCm39) probably benign Het
Pdss1 G A 2: 22,805,253 (GRCm39) V211I probably benign Het
Phactr1 G T 13: 43,231,213 (GRCm39) M226I probably benign Het
Phf11c A G 14: 59,622,236 (GRCm39) S259P probably damaging Het
Phf20l1 A G 15: 66,476,713 (GRCm39) N269S probably damaging Het
Piezo1 A G 8: 123,228,688 (GRCm39) V229A possibly damaging Het
Plcb2 T C 2: 118,541,444 (GRCm39) K997R probably benign Het
Ppm1m A T 9: 106,072,568 (GRCm39) V449E probably damaging Het
Ppp1r36dn T C 12: 76,498,073 (GRCm39) noncoding transcript Het
Rbm12 C T 2: 155,937,480 (GRCm39) probably benign Het
Rgs14 A G 13: 55,526,836 (GRCm39) probably null Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Scamp5 G T 9: 57,358,660 (GRCm39) R39S probably damaging Het
Slc5a6 C T 5: 31,199,518 (GRCm39) V15I probably damaging Het
Snx25 A T 8: 46,558,302 (GRCm39) V235E possibly damaging Het
Tdrd1 G T 19: 56,832,284 (GRCm39) E400D probably damaging Het
Tln1 T C 4: 43,539,544 (GRCm39) R1593G probably benign Het
Trdv2-2 T C 14: 54,199,039 (GRCm39) F110L possibly damaging Het
Ush2a A C 1: 188,466,949 (GRCm39) Y2871S probably damaging Het
Vars2 A C 17: 35,971,140 (GRCm39) L592R probably damaging Het
Vipr2 T A 12: 116,099,849 (GRCm39) C239S probably benign Het
Vmn1r200 A T 13: 22,579,428 (GRCm39) D68V probably damaging Het
Vmn1r7 A T 6: 57,001,373 (GRCm39) S296T probably benign Het
Vmn2r95 T C 17: 18,672,120 (GRCm39) I619T probably benign Het
Other mutations in H2-DMb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01077:H2-DMb2 APN 17 34,366,694 (GRCm39) missense probably damaging 1.00
IGL01077:H2-DMb2 APN 17 34,367,587 (GRCm39) missense probably damaging 1.00
R0909:H2-DMb2 UTSW 17 34,367,783 (GRCm39) missense probably benign 0.00
R1299:H2-DMb2 UTSW 17 34,369,561 (GRCm39) missense probably benign 0.08
R1882:H2-DMb2 UTSW 17 34,366,834 (GRCm39) missense probably damaging 1.00
R4770:H2-DMb2 UTSW 17 34,367,698 (GRCm39) missense probably damaging 1.00
R4914:H2-DMb2 UTSW 17 34,369,503 (GRCm39) missense probably benign 0.05
R5265:H2-DMb2 UTSW 17 34,367,536 (GRCm39) missense probably damaging 1.00
R5561:H2-DMb2 UTSW 17 34,364,445 (GRCm39) critical splice donor site probably null
R5906:H2-DMb2 UTSW 17 34,367,582 (GRCm39) start codon destroyed probably null 0.99
R7970:H2-DMb2 UTSW 17 34,369,572 (GRCm39) missense probably benign 0.02
R8842:H2-DMb2 UTSW 17 34,366,904 (GRCm39) missense probably damaging 1.00
R8973:H2-DMb2 UTSW 17 34,367,699 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16