Mutagenetix > Incidental Mutation

Incidental Mutation 'R1655:Mr1'

188995

Institutional Source

Beutler Lab

Gene Symbol

Mr1

Ensembl Gene

ENSMUSG00000026471

Gene Name

major histocompatibility complex, class I-related

Synonyms

H2ls, MR1

MMRRC Submission

039691-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R1655 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

155127277-155146814 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 155132455 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 258 (T258M)

Ref Sequence

ENSEMBL: ENSMUSP00000027744 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027744] [ENSMUST00000192410] [ENSMUST00000194612]

AlphaFold

Q8HWB0

Predicted Effect

probably benign
Transcript: ENSMUST00000027744
AA Change: T258M

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000027744
Gene: ENSMUSG00000026471
AA Change: T258M

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

noncoding transcript
Transcript: ENSMUST00000191773

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195579

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.3%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833427G06Rik	A	T	9: 51,083,621 (GRCm38)	I136N	probably damaging	Het
9530053A07Rik	A	T	7: 28,147,110 (GRCm38)	N1076Y	probably damaging	Het
A730061H03Rik	A	T	14: 55,560,333 (GRCm38)		probably benign	Het
Abca1	C	T	4: 53,050,964 (GRCm38)	A1582T	probably benign	Het
Acot8	A	T	2: 164,803,108 (GRCm38)	S52T	probably benign	Het
Atcay	C	T	10: 81,213,397 (GRCm38)	V124M	probably damaging	Het
Cep295	C	T	9: 15,340,883 (GRCm38)	E397K	probably damaging	Het
Cfap46	A	T	7: 139,642,520 (GRCm38)	Y1180*	probably null	Het
Clptm1	T	A	7: 19,645,867 (GRCm38)	H148L	probably benign	Het
Clstn3	A	G	6: 124,437,427 (GRCm38)	L743P	probably damaging	Het
Crtc3	A	T	7: 80,598,776 (GRCm38)	M313K	possibly damaging	Het
Csgalnact1	T	A	8: 68,373,689 (GRCm38)	I326F	possibly damaging	Het
Dennd6b	G	T	15: 89,196,340 (GRCm38)	T19K	unknown	Het
Disp1	A	T	1: 183,087,004 (GRCm38)	I1284N	probably benign	Het
Dnah2	A	G	11: 69,473,854 (GRCm38)	Y1992H	probably damaging	Het
Dnah6	C	T	6: 73,205,732 (GRCm38)	V205I	possibly damaging	Het
Dst	G	T	1: 34,282,576 (GRCm38)	G4391*	probably null	Het
Dytn	A	G	1: 63,661,198 (GRCm38)	S258P	probably damaging	Het
Emilin3	T	A	2: 160,910,866 (GRCm38)		probably null	Het
Ermn	C	T	2: 58,052,584 (GRCm38)	V45I	probably benign	Het
Fat4	T	C	3: 38,957,318 (GRCm38)	V2189A	probably damaging	Het
Filip1l	T	C	16: 57,571,851 (GRCm38)	I934T	probably damaging	Het
Gbp9	T	A	5: 105,081,692 (GRCm38)	Q472L	possibly damaging	Het
Gimap5	G	T	6: 48,753,176 (GRCm38)	E227*	probably null	Het
Gsdmc	C	T	15: 63,780,043 (GRCm38)	V240M	probably benign	Het
H2-Q4	G	T	17: 35,382,905 (GRCm38)	V248F	probably damaging	Het
Helz2	T	C	2: 181,234,147 (GRCm38)	E1518G	probably damaging	Het
Hmcn1	A	G	1: 150,630,333 (GRCm38)	V3814A	probably benign	Het
Ifna7	A	G	4: 88,816,660 (GRCm38)	T145A	probably benign	Het
Itgam	T	A	7: 128,115,163 (GRCm38)	M947K	probably benign	Het
Itpr2	T	G	6: 146,376,148 (GRCm38)	N608H	probably damaging	Het
Klra2	T	A	6: 131,220,211 (GRCm38)	N242I	probably damaging	Het
Lonrf2	A	T	1: 38,811,824 (GRCm38)	L219Q	probably damaging	Het
Ly6c2	T	C	15: 75,108,563 (GRCm38)	I126V	probably benign	Het
Mrps35	T	G	6: 147,060,228 (GRCm38)	D200E	possibly damaging	Het
Nbeal2	A	C	9: 110,632,872 (GRCm38)	S1506A	probably damaging	Het
Ncoa7	T	C	10: 30,698,245 (GRCm38)		probably null	Het
Nlrp4a	A	T	7: 26,449,651 (GRCm38)	I228F	possibly damaging	Het
Olfr1047	A	G	2: 86,228,080 (GRCm38)	V297A	possibly damaging	Het
Olfr1339	A	G	4: 118,734,999 (GRCm38)	S157G	probably benign	Het
Olfr368	A	G	2: 37,331,939 (GRCm38)	Y64C	probably damaging	Het
Olfr483	A	T	7: 108,103,464 (GRCm38)	I52F	probably damaging	Het
Paxx	T	C	2: 25,460,316 (GRCm38)	E93G	probably damaging	Het
Per2	C	A	1: 91,448,768 (GRCm38)	G128W	probably damaging	Het
Piezo1	A	G	8: 122,496,822 (GRCm38)	I796T	probably benign	Het
Pkhd1	A	G	1: 20,584,129 (GRCm38)	S235P	probably damaging	Het
Pole	T	A	5: 110,335,922 (GRCm38)	F259Y	probably damaging	Het
Pus7	T	A	5: 23,747,800 (GRCm38)	K512*	probably null	Het
Ralyl	A	T	3: 14,107,236 (GRCm38)	Y55F	probably damaging	Het
Rgs14	T	A	13: 55,383,534 (GRCm38)	M451K	probably benign	Het
Rhag	T	C	17: 40,831,596 (GRCm38)	F231L	probably damaging	Het
Ric8a	T	C	7: 140,860,895 (GRCm38)	C94R	probably benign	Het
Rictor	T	A	15: 6,772,212 (GRCm38)	D460E	probably benign	Het
Rpn1	T	C	6: 88,100,944 (GRCm38)	V454A	possibly damaging	Het
Sacs	A	G	14: 61,191,782 (GRCm38)	D427G	probably benign	Het
Scai	A	T	2: 39,080,117 (GRCm38)	V545D	possibly damaging	Het
Serpinb3a	A	G	1: 107,046,212 (GRCm38)	V323A	probably damaging	Het
Slc13a5	C	A	11: 72,257,378 (GRCm38)	C277F	probably benign	Het
Slc15a1	A	T	14: 121,465,899 (GRCm38)	Y557N	probably benign	Het
Slc34a2	T	C	5: 53,069,419 (GRCm38)	V628A	probably benign	Het
Slc8a2	G	T	7: 16,141,135 (GRCm38)	G436V	probably damaging	Het
Sphkap	G	A	1: 83,277,515 (GRCm38)	R838*	probably null	Het
Supt5	T	C	7: 28,330,024 (GRCm38)	I103V	probably benign	Het
Tdrd1	T	A	19: 56,843,216 (GRCm38)	Y346*	probably null	Het
Tg	T	G	15: 66,828,568 (GRCm38)		probably null	Het
Top1	T	A	2: 160,703,696 (GRCm38)		probably null	Het
Trmt12	T	C	15: 58,873,227 (GRCm38)	L158P	probably damaging	Het
Tssk4	A	G	14: 55,651,695 (GRCm38)	N226S	probably damaging	Het
Unc80	G	T	1: 66,672,756 (GRCm38)	V2746F	possibly damaging	Het
Usp34	T	A	11: 23,375,051 (GRCm38)	V999E	probably benign	Het
Virma	T	C	4: 11,494,786 (GRCm38)	V29A	probably damaging	Het
Zfp40	A	T	17: 23,177,266 (GRCm38)	Y48N	probably benign	Het
Zfp609	A	G	9: 65,703,554 (GRCm38)	V709A	possibly damaging	Het

Other mutations in Mr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03216:Mr1	APN	1	155,129,289 (GRCm38)	missense	possibly damaging	0.51
R0612:Mr1	UTSW	1	155,137,690 (GRCm38)	missense	probably damaging	1.00
R1388:Mr1	UTSW	1	155,132,503 (GRCm38)	missense	probably damaging	0.98
R2157:Mr1	UTSW	1	155,146,630 (GRCm38)	critical splice donor site	probably null
R2437:Mr1	UTSW	1	155,132,531 (GRCm38)	missense	probably benign	0.07
R3421:Mr1	UTSW	1	155,137,591 (GRCm38)	missense	probably damaging	1.00
R4224:Mr1	UTSW	1	155,130,719 (GRCm38)	missense	possibly damaging	0.62
R4240:Mr1	UTSW	1	155,136,667 (GRCm38)	missense	probably damaging	1.00
R4711:Mr1	UTSW	1	155,136,590 (GRCm38)	missense	probably benign	0.00
R4849:Mr1	UTSW	1	155,130,690 (GRCm38)	missense	probably benign	0.00
R5915:Mr1	UTSW	1	155,136,788 (GRCm38)	missense	probably damaging	1.00
R6882:Mr1	UTSW	1	155,132,453 (GRCm38)	missense	possibly damaging	0.54
R6940:Mr1	UTSW	1	155,129,268 (GRCm38)	makesense	probably null
R7315:Mr1	UTSW	1	155,129,290 (GRCm38)	missense	probably benign
R7567:Mr1	UTSW	1	155,146,728 (GRCm38)	start gained	probably benign
R7751:Mr1	UTSW	1	155,129,308 (GRCm38)	missense	probably damaging	1.00
R7818:Mr1	UTSW	1	155,130,636 (GRCm38)	nonsense	probably null
R9250:Mr1	UTSW	1	155,137,579 (GRCm38)	missense	probably damaging	1.00
R9284:Mr1	UTSW	1	155,137,528 (GRCm38)	missense	probably benign	0.03
R9654:Mr1	UTSW	1	155,137,684 (GRCm38)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- ACCTGGTGAAGCCTGTGGTGAC -3'
(R):5'- TTGCCTACGGCATGGGAGGAAG -3'

Sequencing Primer
(F):5'- AGTGACCCAGCATCCCTTC -3'
(R):5'- GTGGTAAGTTCAGTATCCAAGACCC -3'

Posted On

2014-05-09