Mutagenetix > Incidental Mutation

Incidental Mutation 'R5915:Mr1'

461242

Institutional Source

Beutler Lab

Gene Symbol

Mr1

Ensembl Gene

ENSMUSG00000026471

Gene Name

major histocompatibility complex, class I-related

Synonyms

MR1, H2ls

MMRRC Submission

044112-MU

Accession Numbers

Essential gene?

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

Stock #

R5915 (G1)

Quality Score

218

Status

Validated

Chromosome

Chromosomal Location

155003620-155022560 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 155012534 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 127 (F127I)

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: F127I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000027744
Gene: ENSMUSG00000026471
AA Change: F127I

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

Meta Mutation Damage Score

0.7658

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

98% (60/61)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,644,122 (GRCm39)	V940E	probably damaging	Het
Adgrg7	A	T	16: 56,550,748 (GRCm39)		probably null	Het
Alox12e	T	C	11: 70,209,050 (GRCm39)	I399V	possibly damaging	Het
Apoa5	C	A	9: 46,180,607 (GRCm39)	Q42K	probably damaging	Het
Arfgap1	A	G	2: 180,620,215 (GRCm39)	Y243C	possibly damaging	Het
Arhgap12	A	G	18: 6,037,016 (GRCm39)		probably null	Het
Arl16	G	A	11: 120,357,431 (GRCm39)		probably benign	Het
Atp8b5	A	G	4: 43,370,577 (GRCm39)	D951G	probably damaging	Het
Babam2	T	A	5: 31,942,955 (GRCm39)	L80Q	probably damaging	Het
Celsr1	C	T	15: 85,822,176 (GRCm39)	V1714I	probably benign	Het
Celsr1	C	T	15: 85,914,550 (GRCm39)	R1141H	probably damaging	Het
Cep295	A	G	9: 15,252,775 (GRCm39)	L351P	probably damaging	Het
Dlc1	T	A	8: 37,405,829 (GRCm39)		probably benign	Het
Dpy30	G	T	17: 74,622,906 (GRCm39)	D25E	probably benign	Het
Drosha	T	C	15: 12,935,152 (GRCm39)	W998R	probably damaging	Het
Fibp	A	G	19: 5,513,644 (GRCm39)	D220G	possibly damaging	Het
Grm3	C	T	5: 9,561,927 (GRCm39)	C641Y	probably damaging	Het
Gulo	A	T	14: 66,245,570 (GRCm39)	V8D	probably benign	Het
Ifrd1	A	T	12: 40,263,095 (GRCm39)	C164S	possibly damaging	Het
Jam2	G	A	16: 84,606,295 (GRCm39)	S103N	probably benign	Het
Krtap17-1	T	C	11: 99,884,444 (GRCm39)	T108A	unknown	Het
Man2a2	A	G	7: 80,010,669 (GRCm39)	F774S	probably benign	Het
Map1b	G	A	13: 99,566,839 (GRCm39)	R1961W	unknown	Het
Mib2	A	G	4: 155,740,508 (GRCm39)		probably benign	Het
Mrgprb2	A	G	7: 48,202,554 (GRCm39)	I57T	probably benign	Het
Ncan	G	T	8: 70,550,731 (GRCm39)	Y1154*	probably null	Het
Nfx1	T	A	4: 40,977,285 (GRCm39)	S320T	probably benign	Het
Nlrp4f	A	G	13: 65,335,369 (GRCm39)	L740P	probably damaging	Het
Nprl2	T	C	9: 107,422,277 (GRCm39)		probably benign	Het
Opn1sw	A	G	6: 29,379,754 (GRCm39)		probably null	Het
Or5bw2	A	T	7: 6,573,172 (GRCm39)	I61F	probably benign	Het
Palld	A	G	8: 61,986,386 (GRCm39)		probably null	Het
Phf14	T	A	6: 11,933,726 (GRCm39)	M196K	possibly damaging	Het
Rnf145	T	C	11: 44,433,549 (GRCm39)		probably null	Het
Sbf2	A	T	7: 109,977,303 (GRCm39)	C610*	probably null	Het
Sec24a	C	T	11: 51,646,964 (GRCm39)	A13T	probably benign	Het
Smim8	TCTCCTC	TCTC	4: 34,769,010 (GRCm39)		probably benign	Het
Sox8	A	C	17: 25,786,443 (GRCm39)	L420R	probably damaging	Het
Sry	C	G	Y: 2,662,612 (GRCm39)	Q349H	unknown	Het
Sspo	A	G	6: 48,441,530 (GRCm39)	D1889G	probably benign	Het
Sspo	A	T	6: 48,468,418 (GRCm39)	H4382L	possibly damaging	Het
Tmem65	T	C	15: 58,662,037 (GRCm39)	I141V	probably damaging	Het
Tpr	A	T	1: 150,301,400 (GRCm39)	T1329S	probably benign	Het
Trim17	C	T	11: 58,859,388 (GRCm39)	R201W	probably damaging	Het
Trim3	A	G	7: 105,267,182 (GRCm39)	L399P	possibly damaging	Het
Trim7	A	G	11: 48,736,477 (GRCm39)	D277G	possibly damaging	Het
Vstm2b	A	G	7: 40,552,107 (GRCm39)	N153S	possibly damaging	Het
Wnk2	G	T	13: 49,231,561 (GRCm39)	Q786K	probably damaging	Het
Wnk4	A	G	11: 101,154,720 (GRCm39)	*286W	probably null	Het
Xpot	A	T	10: 121,450,998 (GRCm39)	L134Q	probably damaging	Het
Ylpm1	C	T	12: 85,087,660 (GRCm39)	P1148L	probably damaging	Het
Zc3h7a	G	A	16: 10,982,466 (GRCm39)	Q20*	probably null	Het
Zfp599	C	T	9: 22,161,130 (GRCm39)	C345Y	probably 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
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'- GAACCTCTTTAGCCAGGCAATG -3'
(R):5'- CTGCTGAACAGGAACCTTTTGG -3'

Sequencing Primer
(F):5'- AGCCAGGCAATGCATTCTTC -3'
(R):5'- GCTGAACAGGAACCTTTTGGAACTC -3'

Posted On

2017-02-28