Incidental Mutation 'R6940:Mr1'
ID 540478
Institutional Source Beutler Lab
Gene Symbol Mr1
Ensembl Gene ENSMUSG00000026471
Gene Name major histocompatibility complex, class I-related
Synonyms MR1, H2ls
MMRRC Submission 045054-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R6940 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 155003620-155022560 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to G at 155005014 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Serine at position 342 (*342S)
Ref Sequence ENSEMBL: ENSMUSP00000027744 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027744] [ENSMUST00000192410] [ENSMUST00000194612]
AlphaFold Q8HWB0
Predicted Effect probably null
Transcript: ENSMUST00000027744
AA Change: *342S
SMART Domains Protein: ENSMUSP00000027744
Gene: ENSMUSG00000026471
AA Change: *342S

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 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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency 100% (49/49)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg1 C A 9: 54,516,381 (GRCm39) A667S probably benign Het
Ank2 G A 3: 126,735,621 (GRCm39) probably benign Het
Arhgef28 A G 13: 98,102,038 (GRCm39) L812P possibly damaging Het
Armc5 C T 7: 127,839,470 (GRCm39) R263* probably null Het
Cadps2 A T 6: 23,302,491 (GRCm39) V740E probably damaging Het
Cckbr T C 7: 105,084,103 (GRCm39) V279A probably benign Het
Cd101 T C 3: 100,911,018 (GRCm39) D880G probably damaging Het
Cep350 A T 1: 155,804,297 (GRCm39) S929T probably benign Het
Chaf1b G A 16: 93,702,853 (GRCm39) R556H probably benign Het
Csn1s1 A T 5: 87,822,882 (GRCm39) Q69L possibly damaging Het
Dennd1b T C 1: 138,981,155 (GRCm39) probably null Het
Dnah11 T C 12: 118,162,503 (GRCm39) D22G probably benign Het
Dnah7a T C 1: 53,670,836 (GRCm39) H472R probably benign Het
Dnah7b G A 1: 46,158,428 (GRCm39) R337H probably benign Het
Eif2ak3 T C 6: 70,869,386 (GRCm39) V691A possibly damaging Het
Ern2 T C 7: 121,785,369 (GRCm39) R3G probably benign Het
Fat3 T C 9: 15,828,096 (GRCm39) probably null Het
Fnbp4 T C 2: 90,575,858 (GRCm39) F20L unknown Het
Gtf2b C A 3: 142,484,016 (GRCm39) D63E probably damaging Het
Hydin A G 8: 111,217,243 (GRCm39) Y1377C probably damaging Het
Klf1 A G 8: 85,628,724 (GRCm39) T41A possibly damaging Het
Lce3d G A 3: 92,865,541 (GRCm39) S52N unknown Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Lrrfip1 T A 1: 91,050,135 (GRCm39) probably null Het
Ltbp4 A C 7: 27,008,369 (GRCm39) V1313G probably damaging Het
Morc1 C A 16: 48,300,208 (GRCm39) S235* probably null Het
Muc21 C A 17: 35,934,118 (GRCm39) probably benign Het
Nol4l T A 2: 153,253,684 (GRCm39) S630C probably benign Het
Nr4a3 C T 4: 48,051,486 (GRCm39) P80L probably benign Het
Or51a43 A G 7: 103,717,620 (GRCm39) I206T possibly damaging Het
Otof A G 5: 30,528,987 (GRCm39) V1807A probably damaging Het
Pde5a T A 3: 122,572,681 (GRCm39) V354E possibly damaging Het
Pmfbp1 A T 8: 110,251,823 (GRCm39) E355D probably damaging Het
Ppp2r2c A G 5: 37,084,875 (GRCm39) D112G probably damaging Het
Prkacb A T 3: 146,457,254 (GRCm39) I37N probably damaging Het
Prox2 T C 12: 85,141,348 (GRCm39) D285G probably benign Het
Ranbp3l A G 15: 9,041,792 (GRCm39) S61G probably benign Het
Rnf214 T A 9: 45,802,196 (GRCm39) T289S probably damaging Het
Rnf217 G T 10: 31,381,973 (GRCm39) probably null Het
Sc5d A T 9: 42,166,723 (GRCm39) M272K probably benign Het
Slco6c1 T C 1: 97,000,626 (GRCm39) T542A possibly damaging Het
Sord T A 2: 122,094,536 (GRCm39) I308N probably damaging Het
Syvn1 A T 19: 6,101,214 (GRCm39) probably benign Het
Tas2r134 A G 2: 51,518,148 (GRCm39) H209R probably benign Het
Trak1 T C 9: 121,272,784 (GRCm39) V214A possibly damaging Het
Trpm5 C A 7: 142,638,547 (GRCm39) E322* probably null Het
Ttf2 T C 3: 100,876,831 (GRCm39) T17A probably damaging Het
Vmn2r53 T C 7: 12,316,343 (GRCm39) E492G probably benign Het
Xndc1 T C 7: 101,727,094 (GRCm39) V161A 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
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
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'- CGGCTCTGATACTCTGTGATCTAC -3'
(R):5'- AGCAGACTAAAACTGTCAGTGG -3'

Sequencing Primer
(F):5'- CTACAATATTGGGAAGTATTGGGTC -3'
(R):5'- GACTAAAACTGTCAGTGGCTGCTTC -3'
Posted On 2018-11-06