Incidental Mutation 'IGL00422:H2-M5'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2-M5
Ensembl Gene ENSMUSG00000024459
Gene Namehistocompatibility 2, M region locus 5
SynonymsCRW2, D130003B22Rik, H-2M5
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00422
Quality Score
Chromosomal Location36984061-36989537 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 36987840 bp
Amino Acid Change Isoleucine to Threonine at position 238 (I238T)
Ref Sequence ENSEMBL: ENSMUSP00000131365 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169189]
Predicted Effect unknown
Transcript: ENSMUST00000113667
AA Change: I67T
SMART Domains Protein: ENSMUSP00000109297
Gene: ENSMUSG00000024459
AA Change: I67T

IGc1 53 124 1.26e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145260
Predicted Effect probably damaging
Transcript: ENSMUST00000169189
AA Change: I238T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000131365
Gene: ENSMUSG00000024459
AA Change: I238T

signal peptide 1 19 N/A INTRINSIC
Pfam:MHC_I 26 204 2.4e-69 PFAM
IGc1 223 294 1.26e-18 SMART
transmembrane domain 308 330 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000176712
AA Change: I207T
SMART Domains Protein: ENSMUSP00000134912
Gene: ENSMUSG00000024459
AA Change: I207T

Pfam:MHC_I 1 174 7.5e-66 PFAM
IGc1 193 264 1.26e-18 SMART
transmembrane domain 278 300 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000176784
AA Change: I207T
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 C T 19: 57,068,186 A359T probably damaging Het
Ajuba A T 14: 54,571,769 Y400* probably null Het
Cckar T A 5: 53,699,829 D342V possibly damaging Het
Cdc123 A G 2: 5,798,449 V253A probably benign Het
Cep162 T C 9: 87,227,167 D461G probably benign Het
Chd7 G A 4: 8,859,106 E2399K probably damaging Het
Cln8 G A 8: 14,896,637 C217Y probably benign Het
Dchs1 A G 7: 105,758,029 V2119A possibly damaging Het
Dhx33 T C 11: 71,001,620 S108G probably benign Het
Dip2a T A 10: 76,313,236 M194L probably benign Het
Dnah11 T C 12: 118,068,096 K1779R probably damaging Het
Fads3 T G 19: 10,055,681 F328V possibly damaging Het
Flad1 A G 3: 89,405,853 probably null Het
Gm5346 A G 8: 43,626,351 F279L probably damaging Het
Gm7535 G T 17: 17,911,888 probably benign Het
Gnpat A G 8: 124,885,013 E513G probably damaging Het
Hoxd12 G A 2: 74,675,427 R114Q probably damaging Het
Ide T C 19: 37,276,532 I903V unknown Het
Ifi209 T G 1: 173,638,963 D120E possibly damaging Het
Map3k10 T C 7: 27,668,469 D248G probably damaging Het
Mat2b C A 11: 40,687,738 G41C probably damaging Het
Mfsd4a T C 1: 132,040,594 I369V probably benign Het
Myom1 T A 17: 71,126,098 V1480E probably damaging Het
Myom2 A T 8: 15,069,490 D127V probably damaging Het
Olfml2b T A 1: 170,669,066 V422E probably damaging Het
Pkn3 G A 2: 30,081,104 A228T probably damaging Het
Rad17 A T 13: 100,629,525 I365K probably benign Het
Rad17 A T 13: 100,629,523 S366T probably damaging Het
Rpp14 G A 14: 8,083,934 G30E possibly damaging Het
Slco1a6 A C 6: 142,161,017 C15G probably benign Het
Spag9 T A 11: 94,097,866 F571I probably benign Het
Ttc27 T A 17: 74,780,816 C459S probably damaging Het
Washc2 A G 6: 116,256,676 T888A probably benign Het
Zcchc7 A T 4: 44,931,318 H490L possibly damaging Het
Other mutations in H2-M5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02870:H2-M5 APN 17 36989033 missense probably benign 0.00
R0106:H2-M5 UTSW 17 36989142 missense possibly damaging 0.95
R0361:H2-M5 UTSW 17 36987436 missense possibly damaging 0.68
R0676:H2-M5 UTSW 17 36989142 missense possibly damaging 0.95
R0678:H2-M5 UTSW 17 36989142 missense possibly damaging 0.95
R4594:H2-M5 UTSW 17 36987805 missense possibly damaging 0.53
R4816:H2-M5 UTSW 17 36989417 unclassified probably benign
R5071:H2-M5 UTSW 17 36987184 critical splice acceptor site probably null
R7070:H2-M5 UTSW 17 36989159 missense possibly damaging 0.95
R7489:H2-M5 UTSW 17 36989471 missense unknown
R7641:H2-M5 UTSW 17 36987431 missense probably benign
R7908:H2-M5 UTSW 17 36987679 missense probably benign 0.13
Posted On2012-04-20