Mutagenetix > Incidental Mutation

Incidental Mutation 'R7981:Mri1'

651220

Institutional Source

Beutler Lab

Gene Symbol

Mri1

Ensembl Gene

ENSMUSG00000004996

Gene Name

methylthioribose-1-phosphate isomerase 1

Synonyms

2410018C20Rik

MMRRC Submission

046022-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.277) question?

Stock #

R7981 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84977205-84983953 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 84983792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 33 (V33G)

Ref Sequence

ENSEMBL: ENSMUSP00000122623 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005120] [ENSMUST00000098578] [ENSMUST00000126435] [ENSMUST00000172320]

AlphaFold

Q9CQT1

Predicted Effect

probably benign
Transcript: ENSMUST00000005120

SMART Domains

Protein: ENSMUSP00000005120
Gene: ENSMUSG00000004994

Domain	Start	End	E-Value	Type
Pfam:DUF572	1	198	1.7e-85	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000005122
Gene: ENSMUSG00000004996
AA Change: V28G

Domain	Start	End	E-Value	Type
Pfam:IF-2B	40	152	9.8e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000098578

SMART Domains

Protein: ENSMUSP00000096177
Gene: ENSMUSG00000004994

Domain	Start	End	E-Value	Type
Pfam:DUF572	1	384	1.4e-101	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125498

SMART Domains

Protein: ENSMUSP00000117115
Gene: ENSMUSG00000004996

Domain	Start	End	E-Value	Type
Pfam:IF-2B	2	226	5.9e-55	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000126435
AA Change: V33G

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000122623
Gene: ENSMUSG00000004996
AA Change: V33G

Domain	Start	End	E-Value	Type
Pfam:IF-2B	44	346	4.8e-81	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172320

SMART Domains

Protein: ENSMUSP00000128605
Gene: ENSMUSG00000004994

Domain	Start	End	E-Value	Type
Pfam:DUF572	1	68	1.4e-31	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This enzyme functions in the methionine salvage pathway by catalyzing the interconversion of methylthioribose-1-phosphate and methythioribulose-1-phosphate. Elevated expression of the encoded protein is associated with metastatic melanoma and this protein promotes melanoma cell invasion independent of its enzymatic activity. Mutations in this gene may be associated with vanishing white matter disease (VMWD). [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	T	A	3: 59,784,360 (GRCm39)	F278I	probably damaging	Het
Abca8a	T	C	11: 109,980,739 (GRCm39)	T100A	probably benign	Het
Adam34l	A	G	8: 44,078,850 (GRCm39)	F458S	probably damaging	Het
Agbl1	A	G	7: 76,094,588 (GRCm39)	T740A	unknown	Het
Aldh1a2	A	T	9: 71,171,102 (GRCm39)	I197F	probably damaging	Het
Ankrd28	T	C	14: 31,424,114 (GRCm39)	T1009A	probably benign	Het
Antxrl	T	C	14: 33,787,838 (GRCm39)	V287A	probably damaging	Het
Baiap2l1	G	A	5: 144,294,700 (GRCm39)		probably benign	Het
Catsperd	T	C	17: 56,938,562 (GRCm39)	V30A	possibly damaging	Het
Ccdc150	A	T	1: 54,407,551 (GRCm39)	K1109M	probably damaging	Het
Ccdc28a	A	G	10: 18,094,127 (GRCm39)	L164P	probably benign	Het
Cnot1	C	T	8: 96,489,797 (GRCm39)	V469M	probably damaging	Het
Col16a1	T	G	4: 129,980,347 (GRCm39)		probably null	Het
Coq9	A	G	8: 95,569,285 (GRCm39)	H39R	probably benign	Het
Crh	T	A	3: 19,748,216 (GRCm39)	E142V	probably benign	Het
Depdc1a	A	G	3: 159,226,488 (GRCm39)	N265S	probably benign	Het
Dlg5	T	C	14: 24,208,213 (GRCm39)	T998A	probably benign	Het
Epg5	T	C	18: 78,052,929 (GRCm39)		probably null	Het
Gcc1	G	A	6: 28,419,140 (GRCm39)	L398F	probably benign	Het
Gde1	T	C	7: 118,288,264 (GRCm39)	T320A	probably damaging	Het
Gemin5	T	C	11: 58,036,231 (GRCm39)	D704G	probably damaging	Het
Gfi1	G	A	5: 107,873,543 (GRCm39)		probably benign	Het
Insc	A	G	7: 114,428,302 (GRCm39)	T92A	probably damaging	Het
Krtap6-2	T	C	16: 89,216,562 (GRCm39)	Y135C	unknown	Het
Lpcat2	T	C	8: 93,582,182 (GRCm39)	S34P	probably damaging	Het
Mansc1	T	C	6: 134,587,274 (GRCm39)	D301G	possibly damaging	Het
Mbl2	C	A	19: 30,216,737 (GRCm39)	T183K	probably damaging	Het
Mrps7	T	C	11: 115,497,687 (GRCm39)	M184T	possibly damaging	Het
Mug1	A	T	6: 121,858,723 (GRCm39)	Y1147F	probably damaging	Het
N4bp2	C	T	5: 65,969,485 (GRCm39)	H1416Y	probably benign	Het
Naa15	T	C	3: 51,366,092 (GRCm39)	F487S	probably damaging	Het
Nin	C	T	12: 70,089,591 (GRCm39)	V1275I		Het
Or4c116	A	G	2: 88,942,400 (GRCm39)	F152S	probably damaging	Het
Or55b3	A	T	7: 102,127,036 (GRCm39)	Y14N	probably damaging	Het
Pik3c2b	A	T	1: 133,003,547 (GRCm39)		probably null	Het
Pkn1	G	T	8: 84,407,637 (GRCm39)	N463K	probably damaging	Het
Pramel24	T	G	4: 143,453,452 (GRCm39)	F187V	probably benign	Het
Rab11fip3	C	T	17: 26,216,963 (GRCm39)	S816N	probably damaging	Het
Rassf4	G	T	6: 116,617,218 (GRCm39)	D262E	probably damaging	Het
Sec16a	A	G	2: 26,311,384 (GRCm39)		probably null	Het
Sspo	A	G	6: 48,445,428 (GRCm39)	T2290A	probably benign	Het
Sumf1	A	G	6: 108,129,186 (GRCm39)		probably null	Het
Syne1	T	C	10: 5,179,248 (GRCm39)	K4409E	probably benign	Het
Tasor	T	C	14: 27,168,373 (GRCm39)	V305A	possibly damaging	Het
Tmco4	T	G	4: 138,785,772 (GRCm39)	L614R	probably damaging	Het
Tmem67	G	T	4: 12,070,592 (GRCm39)	N245K	probably damaging	Het
Trim58	T	C	11: 58,542,138 (GRCm39)	V366A	probably benign	Het
Vmn1r123	T	C	7: 20,896,914 (GRCm39)	S269P	probably damaging	Het
Vmn2r91	T	A	17: 18,327,887 (GRCm39)	S494T	probably benign	Het
Zbtb26	T	A	2: 37,326,887 (GRCm39)	I50L	possibly damaging	Het

Other mutations in Mri1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00708:Mri1	APN	8	84,978,277 (GRCm39)	missense	probably damaging	1.00
IGL02226:Mri1	APN	8	84,982,924 (GRCm39)	missense	probably damaging	1.00
IGL02642:Mri1	APN	8	84,983,702 (GRCm39)	missense	probably damaging	1.00
IGL03365:Mri1	APN	8	84,978,262 (GRCm39)	missense	possibly damaging	0.52
R1722:Mri1	UTSW	8	84,980,554 (GRCm39)	missense	possibly damaging	0.66
R4372:Mri1	UTSW	8	84,980,554 (GRCm39)	missense	probably benign	0.07
R4456:Mri1	UTSW	8	84,983,035 (GRCm39)	missense	probably benign	0.19
R5943:Mri1	UTSW	8	84,980,948 (GRCm39)	nonsense	probably null
R7084:Mri1	UTSW	8	84,977,708 (GRCm39)	missense
R7142:Mri1	UTSW	8	84,983,753 (GRCm39)	missense	probably damaging	1.00
R7340:Mri1	UTSW	8	84,983,525 (GRCm39)	missense	probably benign	0.19
R7763:Mri1	UTSW	8	84,977,657 (GRCm39)	missense
R9343:Mri1	UTSW	8	84,983,796 (GRCm39)	missense	probably benign	0.01
R9577:Mri1	UTSW	8	84,982,929 (GRCm39)	missense	probably damaging	0.98
R9778:Mri1	UTSW	8	84,980,933 (GRCm39)	missense	possibly damaging	0.77
R9782:Mri1	UTSW	8	84,980,933 (GRCm39)	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- ACACAAGACTGGTCCAGGATC -3'
(R):5'- ATCGCCCGATAACCTAGGAG -3'

Sequencing Primer
(F):5'- TGCCACTTGACCCAGATCG -3'
(R):5'- ATAACCTAGGAGCGCGTGC -3'

Posted On

2020-09-15