Mutagenetix > Incidental Mutation

Incidental Mutation 'R7751:Mr1'

597197

Institutional Source

Beutler Lab

Gene Symbol

Mr1

Ensembl Gene

ENSMUSG00000026471

Gene Name

major histocompatibility complex, class I-related

Synonyms

MR1, H2ls

MMRRC Submission

045807-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R7751 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155003620-155022560 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 155005054 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 329 (Y329N)

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: Y329N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000027744
Gene: ENSMUSG00000026471
AA Change: Y329N

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (82/84)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	T	7: 119,965,044 (GRCm39)	I769F	possibly damaging	Het
Ackr1	A	C	1: 173,159,779 (GRCm39)	W247G	probably damaging	Het
Adgrl4	G	A	3: 151,197,946 (GRCm39)	G69S	probably damaging	Het
Agrn	C	T	4: 156,260,886 (GRCm39)	S710N	probably damaging	Het
Aox3	A	G	1: 58,218,494 (GRCm39)	M1103V	probably benign	Het
Asb18	G	A	1: 89,896,206 (GRCm39)	A278V	probably benign	Het
B3gat2	A	G	1: 23,801,945 (GRCm39)	E77G	probably benign	Het
Camta1	T	C	4: 151,232,863 (GRCm39)		probably null	Het
Cbll1	A	T	12: 31,537,579 (GRCm39)	I392N	probably damaging	Het
Ccdc113	A	G	8: 96,264,829 (GRCm39)	D113G	possibly damaging	Het
Cd79a	T	C	7: 24,599,092 (GRCm39)	F148L	probably benign	Het
Chad	T	A	11: 94,455,999 (GRCm39)	C26S	probably damaging	Het
Cog4	T	C	8: 111,607,600 (GRCm39)	F696L	probably damaging	Het
Csf2rb	T	G	15: 78,225,839 (GRCm39)	S303R	probably damaging	Het
Cstpp1	A	T	2: 91,214,118 (GRCm39)	L79H	probably damaging	Het
Cubn	C	T	2: 13,365,176 (GRCm39)	G1621R	probably damaging	Het
Dennd4c	T	A	4: 86,747,179 (GRCm39)	N1454K	probably benign	Het
Dennd5b	T	C	6: 148,918,604 (GRCm39)	I853V	probably benign	Het
Dnaaf11	T	C	15: 66,321,412 (GRCm39)	E243G	probably benign	Het
Dop1a	A	T	9: 86,389,783 (GRCm39)	D561V	probably benign	Het
Dpysl4	A	G	7: 138,669,456 (GRCm39)	I45V	probably benign	Het
Ect2l	A	C	10: 18,045,153 (GRCm39)	S301A	possibly damaging	Het
Elf2	A	G	3: 51,165,035 (GRCm39)	V323A	probably damaging	Het
Epcam	C	T	17: 87,947,904 (GRCm39)	R125*	probably null	Het
Ephb4	T	C	5: 137,363,937 (GRCm39)	V612A	probably damaging	Het
Erich3	C	T	3: 154,469,426 (GRCm39)	R1293C	unknown	Het
F830045P16Rik	C	A	2: 129,302,367 (GRCm39)	L408F	probably damaging	Het
Gask1a	G	A	9: 121,793,887 (GRCm39)	V14I	probably benign	Het
Gm13102	T	C	4: 143,835,787 (GRCm39)	I485T	probably benign	Het
Gm16494	A	T	17: 47,327,800 (GRCm39)	L28*	probably null	Het
Grin2c	A	G	11: 115,144,696 (GRCm39)	V610A	probably damaging	Het
Hacd2	T	A	16: 34,922,434 (GRCm39)	Y208N	probably damaging	Het
Hlf	A	T	11: 90,278,821 (GRCm39)	F81Y	probably damaging	Het
Igfbp7	G	A	5: 77,499,134 (GRCm39)	A257V	probably damaging	Het
Il12a	A	T	3: 68,605,235 (GRCm39)	N167I	probably damaging	Het
Il1r2	G	A	1: 40,162,371 (GRCm39)	C338Y	probably damaging	Het
Irf2bpl	G	T	12: 86,930,489 (GRCm39)	H61Q	probably damaging	Het
Kansl1	A	G	11: 104,314,890 (GRCm39)	F383L	probably benign	Het
Kcnh8	A	G	17: 53,268,871 (GRCm39)	T863A	probably damaging	Het
Klhl36	C	A	8: 120,596,397 (GRCm39)	Q33K	probably benign	Het
Lrig2	A	T	3: 104,401,985 (GRCm39)	Y113*	probably null	Het
Lrrc36	T	A	8: 106,178,667 (GRCm39)	S287R	possibly damaging	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Nectin4	G	A	1: 171,211,326 (GRCm39)		probably null	Het
Nsrp1	A	G	11: 76,940,097 (GRCm39)		probably null	Het
Or1e21	A	T	11: 73,344,372 (GRCm39)	I222N	possibly damaging	Het
Or9g3	A	G	2: 85,583,836 (GRCm39)	T44A	probably benign	Het
Pcdh8	A	T	14: 80,008,143 (GRCm39)	I140N	probably damaging	Het
Pdzd8	A	G	19: 59,333,208 (GRCm39)	V271A	probably damaging	Het
Pex3	T	A	10: 13,403,550 (GRCm39)	I324L	possibly damaging	Het
Pira12	T	A	7: 3,898,603 (GRCm39)	I282F	probably damaging	Het
Pitpnm1	T	A	19: 4,153,470 (GRCm39)	F209I	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pkhd1	T	A	1: 20,271,149 (GRCm39)	T3135S	probably damaging	Het
Pramel32	T	C	4: 88,547,356 (GRCm39)	D192G	probably benign	Het
Prdm16	T	C	4: 154,412,756 (GRCm39)	N1082S	probably damaging	Het
Psmd12	A	T	11: 107,370,439 (GRCm39)	I13F	possibly damaging	Het
Ptgs2	A	T	1: 149,980,258 (GRCm39)	I399F	probably benign	Het
Rasa3	A	T	8: 13,618,708 (GRCm39)	S830T	probably benign	Het
Rasgef1c	A	T	11: 49,861,120 (GRCm39)	R362W	probably damaging	Het
Resf1	A	G	6: 149,226,936 (GRCm39)		probably benign	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rnf217	C	A	10: 31,393,415 (GRCm39)	G389W	probably damaging	Het
Sec16b	A	T	1: 157,385,630 (GRCm39)	D675V	probably damaging	Het
Serpinb12	A	G	1: 106,877,401 (GRCm39)	Y137C	probably damaging	Het
Slc2a5	T	A	4: 150,227,591 (GRCm39)	I470N	probably damaging	Het
Slc5a1	T	C	5: 33,290,761 (GRCm39)	I115T	possibly damaging	Het
Slco1a4	A	T	6: 141,780,413 (GRCm39)	S126T	possibly damaging	Het
St6galnac2	T	C	11: 116,568,410 (GRCm39)	D351G	probably damaging	Het
Stat4	G	A	1: 52,121,711 (GRCm39)	V357M	possibly damaging	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Tdrd9	T	A	12: 111,958,982 (GRCm39)	C139S	probably benign	Het
Tmed9	G	A	13: 55,741,054 (GRCm39)	R23Q	not run	Het
Tmem150a	A	C	6: 72,336,028 (GRCm39)	H205P	probably damaging	Het
Tns2	C	A	15: 102,018,163 (GRCm39)	L350I	probably benign	Het
Tpr	A	G	1: 150,295,646 (GRCm39)	T964A	probably benign	Het
Traf3ip1	G	T	1: 91,422,479 (GRCm39)		probably benign	Het
Trem2	G	T	17: 48,653,567 (GRCm39)		probably benign	Het
Ttc14	G	A	3: 33,863,590 (GRCm39)	G666D	unknown	Het
Ulk1	T	C	5: 110,957,078 (GRCm39)	D40G	probably damaging	Het
Vmn1r30	A	G	6: 58,412,397 (GRCm39)	V145A	probably benign	Het
Vmn1r79	C	T	7: 11,910,762 (GRCm39)	Q215*	probably null	Het
Wnk2	G	A	13: 49,231,493 (GRCm39)	T16I	unknown	Het
Yme1l1	T	C	2: 23,077,856 (GRCm39)		probably null	Het
Zbtb16	T	A	9: 48,654,769 (GRCm39)	H454L	probably damaging	Het
Zkscan5	A	C	5: 145,157,676 (GRCm39)	H726P	probably damaging	Het
Zrsr2-ps1	A	G	11: 22,923,595 (GRCm39)	Q123R	possibly damaging	Het

Other mutations in Mr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- AGCCTAAAAGTTGACAGCTCTTC -3'
(R):5'- GAAGAAAGTTCCTGCTTCTTCTCC -3'

Sequencing Primer
(F):5'- CTCTTCTGGAGCCAAAGAATGAAG -3'
(R):5'- CTCCTCTGGAGTTTGTAAATTTTGAG -3'

Posted On

2019-11-26