Incidental Mutation 'IGL03216:Mr1'
ID 413472
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mr1
Ensembl Gene ENSMUSG00000026471
Gene Name major histocompatibility complex, class I-related
Synonyms MR1, H2ls
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # IGL03216
Quality Score
Status
Chromosome 1
Chromosomal Location 155003620-155022560 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 155005035 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 335 (N335I)
Ref Sequence ENSEMBL: ENSMUSP00000027744 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027744] [ENSMUST00000192410] [ENSMUST00000194612]
AlphaFold Q8HWB0
Predicted Effect possibly damaging
Transcript: ENSMUST00000027744
AA Change: N335I

PolyPhen 2 Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000027744
Gene: ENSMUSG00000026471
AA Change: N335I

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:MHC_I 19 194 1.8e-59 PFAM
Pfam:MHC_I_3 46 193 3.9e-12 PFAM
IGc1 213 284 1.51e-12 SMART
transmembrane domain 297 319 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191773
Predicted Effect probably benign
Transcript: ENSMUST00000192410
SMART Domains Protein: ENSMUSP00000141476
Gene: ENSMUSG00000026471

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:MHC_I 19 87 8e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000194612
SMART Domains Protein: ENSMUSP00000142195
Gene: ENSMUSG00000026471

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
PDB:4NQE|C 19 44 3e-7 PDB
SCOP:d1de4a2 19 44 3e-10 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MAIT (mucosal-associated invariant T-cells) lymphocytes represent a small population of T-cells primarily found in the gut. The protein encoded by this gene is an antigen-presenting molecule that presents metabolites of microbial vitamin B to MAITs. This presentation may activate the MAITs to regulate the amounts of specific types of bacteria in the gut. Several transcript variants encoding different isoforms have been found for this gene, and a pseudogene of it has been detected about 36 kbp upstream on the same chromosome. [provided by RefSeq, Jul 2015]
PHENOTYPE: Null homozyogtes lack mucosal-associated invariant T cells that express the canonical mVa19-Ja33 rearrangement of the Tcra gene. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano10 A T 9: 122,086,127 (GRCm39) Y491N probably damaging Het
Cacna2d1 T C 5: 16,558,840 (GRCm39) F709L probably damaging Het
Cadps A G 14: 12,439,944 (GRCm38) I1196T probably damaging Het
Cage1 T C 13: 38,190,153 (GRCm39) probably benign Het
Cep350 A T 1: 155,736,373 (GRCm39) C2888S probably benign Het
Cfap52 T C 11: 67,844,932 (GRCm39) T46A possibly damaging Het
Cyp2d26 T C 15: 82,677,462 (GRCm39) M76V probably benign Het
Fermt3 A T 19: 6,976,748 (GRCm39) D653E probably benign Het
Foxj3 A G 4: 119,467,180 (GRCm39) probably benign Het
Gm21985 T A 2: 112,097,281 (GRCm39) S39T probably damaging Het
Herc1 A T 9: 66,386,228 (GRCm39) D3727V probably benign Het
Ifi208 A T 1: 173,506,507 (GRCm39) T97S possibly damaging Het
Iqgap1 T C 7: 80,392,836 (GRCm39) E709G probably benign Het
Itgb5 T A 16: 33,723,208 (GRCm39) H361Q probably benign Het
Nadsyn1 A T 7: 143,351,582 (GRCm39) F684I probably damaging Het
Nf1 A T 11: 79,455,721 (GRCm39) I2544F probably benign Het
Or6c1b A G 10: 129,272,806 (GRCm39) T42A probably damaging Het
Pnp2 T G 14: 51,200,654 (GRCm39) S107A probably benign Het
Pomt1 A G 2: 32,132,955 (GRCm39) I184V probably damaging Het
Slc6a19 T G 13: 73,834,300 (GRCm39) M301L probably benign Het
Smarca5 T C 8: 81,446,287 (GRCm39) Y471C probably damaging Het
Syne2 A T 12: 75,989,735 (GRCm39) probably benign Het
Tasor2 C T 13: 3,624,553 (GRCm39) C1799Y probably damaging Het
Tex55 T C 16: 38,649,052 (GRCm39) D19G possibly damaging Het
Trmt6 T C 2: 132,650,618 (GRCm39) N330S probably null Het
Tsc22d1 T C 14: 76,656,077 (GRCm39) V770A probably benign Het
Ttll6 A G 11: 96,042,840 (GRCm39) D462G probably benign Het
Ttn T C 2: 76,775,393 (GRCm39) H1883R probably damaging Het
Ubxn10 C T 4: 138,448,050 (GRCm39) V209M probably damaging Het
Urb1 T C 16: 90,585,002 (GRCm39) T540A probably benign Het
Vmn2r17 A T 5: 109,600,756 (GRCm39) R685W probably damaging Het
Vps4a C T 8: 107,763,335 (GRCm39) R30C probably damaging Het
Xpo6 A G 7: 125,703,985 (GRCm39) V1055A probably damaging Het
Zfp445 C T 9: 122,681,043 (GRCm39) C966Y probably damaging Het
Other mutations in Mr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0612:Mr1 UTSW 1 155,013,436 (GRCm39) missense probably damaging 1.00
R1388:Mr1 UTSW 1 155,008,249 (GRCm39) missense probably damaging 0.98
R1655:Mr1 UTSW 1 155,008,201 (GRCm39) missense probably benign 0.05
R2157:Mr1 UTSW 1 155,022,376 (GRCm39) critical splice donor site probably null
R2437:Mr1 UTSW 1 155,008,277 (GRCm39) missense probably benign 0.07
R3421:Mr1 UTSW 1 155,013,337 (GRCm39) missense probably damaging 1.00
R4224:Mr1 UTSW 1 155,006,465 (GRCm39) missense possibly damaging 0.62
R4240:Mr1 UTSW 1 155,012,413 (GRCm39) missense probably damaging 1.00
R4711:Mr1 UTSW 1 155,012,336 (GRCm39) missense probably benign 0.00
R4849:Mr1 UTSW 1 155,006,436 (GRCm39) missense probably benign 0.00
R5915:Mr1 UTSW 1 155,012,534 (GRCm39) missense probably damaging 1.00
R6882:Mr1 UTSW 1 155,008,199 (GRCm39) missense possibly damaging 0.54
R6940:Mr1 UTSW 1 155,005,014 (GRCm39) makesense probably null
R7315:Mr1 UTSW 1 155,005,036 (GRCm39) missense probably benign
R7567:Mr1 UTSW 1 155,022,474 (GRCm39) start gained probably benign
R7751:Mr1 UTSW 1 155,005,054 (GRCm39) missense probably damaging 1.00
R7818:Mr1 UTSW 1 155,006,382 (GRCm39) nonsense probably null
R9250:Mr1 UTSW 1 155,013,325 (GRCm39) missense probably damaging 1.00
R9284:Mr1 UTSW 1 155,013,274 (GRCm39) missense probably benign 0.03
R9654:Mr1 UTSW 1 155,013,430 (GRCm39) missense possibly damaging 0.81
Posted On 2016-08-02