Incidental Mutation 'IGL02870:H2-M5'
ID362519
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 #IGL02870
Quality Score
Status
Chromosome17
Chromosomal Location36984061-36989537 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 36989033 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 83 (E83G)
Ref Sequence ENSEMBL: ENSMUSP00000131365 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169189]
Predicted Effect unknown
Transcript: ENSMUST00000113667
AA Change: E4G
SMART Domains Protein: ENSMUSP00000109297
Gene: ENSMUSG00000024459
AA Change: E4G

DomainStartEndE-ValueType
IGc1 53 124 1.26e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145260
Predicted Effect probably benign
Transcript: ENSMUST00000169189
AA Change: E83G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000131365
Gene: ENSMUSG00000024459
AA Change: E83G

DomainStartEndE-ValueType
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: E52G
SMART Domains Protein: ENSMUSP00000134912
Gene: ENSMUSG00000024459
AA Change: E52G

DomainStartEndE-ValueType
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: E52G
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 C T 13: 81,563,732 V1042M probably benign Het
Agmat C A 4: 141,746,942 H45N probably benign Het
Akap13 T A 7: 75,609,188 V520D probably damaging Het
Ccser1 T A 6: 61,311,292 N146K probably damaging Het
Cdhr4 T A 9: 107,998,064 probably null Het
Col4a1 G A 8: 11,221,375 T753I probably benign Het
Cyp3a59 T C 5: 146,098,184 I224T probably benign Het
Ddx19a G T 8: 110,983,626 P114Q probably damaging Het
Eftud2 A G 11: 102,862,626 V275A probably damaging Het
Fgd6 T C 10: 94,045,164 S627P probably damaging Het
Flywch1 C T 17: 23,755,902 G541D probably damaging Het
Grk2 T C 19: 4,290,402 D317G probably damaging Het
Hltf T C 3: 20,099,873 F658L probably damaging Het
Hmmr G T 11: 40,714,075 Q390K possibly damaging Het
Lama1 G A 17: 67,804,536 G2261R probably damaging Het
Nsd1 A T 13: 55,313,603 T2548S probably benign Het
Olfr341 G A 2: 36,480,031 A33V probably benign Het
P3h1 C T 4: 119,247,571 R684W probably damaging Het
Peli2 G A 14: 48,256,265 V315M probably damaging Het
Pfkl T A 10: 78,000,839 K115* probably null Het
Plcxd1 A G 5: 110,101,405 T33A probably damaging Het
Ranbp17 A G 11: 33,243,262 S931P probably damaging Het
Retsat T C 6: 72,607,024 Y500H probably damaging Het
Rfx8 C T 1: 39,683,711 V249I possibly damaging Het
Runx1t1 A T 4: 13,889,867 I599L unknown Het
Sardh A T 2: 27,235,491 I337N possibly damaging Het
Serpinb7 A T 1: 107,450,287 M237L probably damaging Het
Slc35f1 A G 10: 52,933,207 S97G possibly damaging Het
Stab1 T C 14: 31,139,397 D2520G probably benign Het
Tnfrsf11b C T 15: 54,256,027 V184M probably benign Het
Trpv4 A T 5: 114,625,056 V764E probably damaging Het
Tsc22d1 C A 14: 76,417,617 A430E probably benign Het
Ttn T C 2: 76,750,605 R23315G probably damaging Het
Txnrd1 A G 10: 82,895,979 I478M probably benign Het
Ush2a T C 1: 188,678,358 V2401A probably benign Het
Vill T C 9: 119,061,899 L191P probably damaging Het
Vmn1r30 A G 6: 58,435,370 V159A probably benign Het
Washc4 T A 10: 83,585,876 N939K probably benign Het
Wdfy3 A G 5: 101,855,471 V2926A probably damaging Het
Wdr7 T C 18: 63,791,843 S966P probably benign Het
Zfp12 C A 5: 143,245,331 T471N probably damaging Het
Other mutations in H2-M5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00422:H2-M5 APN 17 36987840 missense probably damaging 1.00
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
R7989:H2-M5 UTSW 17 36987679 missense probably benign 0.13
Posted On2015-12-18