Incidental Mutation 'R4240:Mr1'
ID 320148
Institutional Source Beutler Lab
Gene Symbol Mr1
Ensembl Gene ENSMUSG00000026471
Gene Name major histocompatibility complex, class I-related
Synonyms MR1, H2ls
MMRRC Submission 041057-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R4240 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 155003620-155022560 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 155012413 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 167 (E167G)
Ref Sequence ENSEMBL: ENSMUSP00000027744 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027744] [ENSMUST00000192410] [ENSMUST00000194612]
AlphaFold Q8HWB0
Predicted Effect probably damaging
Transcript: ENSMUST00000027744
AA Change: E167G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000027744
Gene: ENSMUSG00000026471
AA Change: E167G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195579
Meta Mutation Damage Score 0.2107 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 93% (50/54)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik C T 13: 119,603,478 (GRCm39) P93S probably benign Het
4930488N24Rik A T 17: 14,326,049 (GRCm39) noncoding transcript Het
Areg A T 5: 91,291,375 (GRCm39) N106I probably damaging Het
Ceacam3 G A 7: 16,893,949 (GRCm39) E487K possibly damaging Het
Cfap46 G T 7: 139,246,203 (GRCm39) Q387K possibly damaging Het
Cfap74 C A 4: 155,547,529 (GRCm39) H1238Q probably benign Het
Cnot6l T C 5: 96,225,221 (GRCm39) T491A probably benign Het
Cog7 C T 7: 121,524,707 (GRCm39) V696M possibly damaging Het
Col22a1 C T 15: 71,878,980 (GRCm39) G59D probably damaging Het
Ddi1 A G 9: 6,265,799 (GRCm39) M190T probably benign Het
Eno1b T A 18: 48,180,907 (GRCm39) S362T probably benign Het
Erbb2 A G 11: 98,318,869 (GRCm39) K549R probably benign Het
Fam170a A T 18: 50,414,734 (GRCm39) M127L possibly damaging Het
Gm1979 T C 5: 26,206,119 (GRCm39) T154A probably benign Het
Gm6871 G T 7: 41,195,204 (GRCm39) T511K probably damaging Het
Hsf4 A G 8: 106,001,513 (GRCm39) T378A possibly damaging Het
Irf2bpl C A 12: 86,929,691 (GRCm39) Q327H possibly damaging Het
Klk6 A G 7: 43,478,597 (GRCm39) H168R probably benign Het
Kmt2d G A 15: 98,742,452 (GRCm39) probably benign Het
Kplce T C 3: 92,775,898 (GRCm39) I262V possibly damaging Het
Lad1 T A 1: 135,755,033 (GRCm39) V103D possibly damaging Het
Mcm4 A T 16: 15,445,570 (GRCm39) Y692* probably null Het
Med15 C T 16: 17,473,358 (GRCm39) R497H probably damaging Het
Mfrp T C 9: 44,014,163 (GRCm39) V177A possibly damaging Het
Myo18b A G 5: 112,951,053 (GRCm39) probably null Het
Myom2 A G 8: 15,182,895 (GRCm39) D1444G probably benign Het
Nes C A 3: 87,886,666 (GRCm39) P1598T probably damaging Het
Nlrp4d A T 7: 10,115,243 (GRCm39) H479Q noncoding transcript Het
Nphp4 A G 4: 152,640,141 (GRCm39) D1009G probably benign Het
Or13a25 A G 7: 140,247,496 (GRCm39) N99D probably benign Het
Pate10 T A 9: 35,653,449 (GRCm39) Y84* probably null Het
Phactr1 T A 13: 43,248,363 (GRCm39) N437K possibly damaging Het
Polq G T 16: 36,833,543 (GRCm39) V79F probably damaging Het
Prc1 G A 7: 79,960,964 (GRCm39) probably benign Het
Rdh7 T C 10: 127,721,671 (GRCm39) I202V probably benign Het
Rsf1 C CGGCGGCGGT 7: 97,229,142 (GRCm39) probably benign Het
Sgsm3 A G 15: 80,895,983 (GRCm39) probably benign Het
Sipa1l2 T C 8: 126,218,395 (GRCm39) E314G probably benign Het
Slc8a3 T C 12: 81,361,950 (GRCm39) K290E probably damaging Het
Tbc1d17 T C 7: 44,496,250 (GRCm39) Y84C probably damaging Het
Usp46 T G 5: 74,192,928 (GRCm39) probably benign Het
Vmn2r14 T G 5: 109,364,277 (GRCm39) probably null Het
Vmn2r8 A T 5: 108,945,369 (GRCm39) V746D probably damaging Het
Xdh A G 17: 74,202,790 (GRCm39) V1120A possibly damaging Het
Zbtb38 CTCTTCTTCTTCTTCTTCTTCTTC CTCTTCTTCTTCTTCTTCTTC 9: 96,568,155 (GRCm39) probably benign Het
Zfp791 T C 8: 85,836,295 (GRCm39) H523R probably null Het
Zfp870 A G 17: 33,104,710 (GRCm39) I53T probably benign Het
Other mutations in Mr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03216:Mr1 APN 1 155,005,035 (GRCm39) missense possibly damaging 0.51
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
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
Predicted Primers PCR Primer
(F):5'- GGGCGAATATCACCTGCAGAAG -3'
(R):5'- TTAAAGCCATCCTCCCATAGGC -3'

Sequencing Primer
(F):5'- TATCACCTGCAGAAGAGGAAGTC -3'
(R):5'- GTATATGTTTCAGGGCTTCACAC -3'
Posted On 2015-06-12