Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03365:Mri1'

420069

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mri1

Ensembl Gene

ENSMUSG00000004996

Gene Name

methylthioribose-1-phosphate isomerase 1

Synonyms

2410018C20Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.322) question?

Stock #

IGL03365

Quality Score

Status

Chromosome

Chromosomal Location

84977205-84983953 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84978262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 343 (V343A)

Ref Sequence

ENSEMBL: ENSMUSP00000122623 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019506] [ENSMUST00000126435]

AlphaFold

Q9CQT1

Predicted Effect

probably benign
Transcript: ENSMUST00000005122

SMART Domains

Protein: ENSMUSP00000005122
Gene: ENSMUSG00000004996

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

Predicted Effect

probably benign
Transcript: ENSMUST00000019506

SMART Domains

Protein: ENSMUSP00000019506
Gene: ENSMUSG00000019362

Domain	Start	End	E-Value	Type
Pfam:DUF2462	1	87	5.5e-25	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: V343A

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000122623
Gene: ENSMUSG00000004996
AA Change: V343A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127747

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140850

Coding Region Coverage

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500035N22Rik	T	G	5: 25,202,809 (GRCm39)		probably benign	Het
Adam6a	T	A	12: 113,507,765 (GRCm39)	I46N	possibly damaging	Het
Adipor1	A	G	1: 134,359,380 (GRCm39)	D371G	possibly damaging	Het
Akr1c21	C	T	13: 4,633,851 (GRCm39)	P307S	probably benign	Het
Aoc1l3	A	G	6: 48,965,531 (GRCm39)	D513G	probably damaging	Het
Asxl1	T	A	2: 153,243,674 (GRCm39)	I1408N	probably damaging	Het
Avil	T	C	10: 126,846,852 (GRCm39)	V472A	probably damaging	Het
Bpifa6	C	A	2: 153,831,204 (GRCm39)	Q257K	possibly damaging	Het
Cacna2d4	G	T	6: 119,248,225 (GRCm39)	V380L	probably benign	Het
Clip1	A	C	5: 123,721,649 (GRCm39)	S1111A	probably damaging	Het
Dennd4c	A	G	4: 86,725,663 (GRCm39)		probably null	Het
Dock8	C	T	19: 25,077,048 (GRCm39)	P506L	possibly damaging	Het
Ecsit	A	C	9: 21,987,822 (GRCm39)	H72Q	probably damaging	Het
Eif1b	T	A	9: 120,323,186 (GRCm39)	D15E	probably benign	Het
Enpp1	A	G	10: 24,544,923 (GRCm39)	Y319H	probably damaging	Het
Fat3	T	C	9: 15,907,765 (GRCm39)	N2746D	probably damaging	Het
Fgf20	G	T	8: 40,732,932 (GRCm39)	L115I	possibly damaging	Het
Hip1r	C	T	5: 124,138,230 (GRCm39)	R775W	probably damaging	Het
Hycc1	A	T	5: 24,188,158 (GRCm39)	Y245N	probably benign	Het
Lrp12	A	T	15: 39,735,917 (GRCm39)	S672T	probably benign	Het
Morf4l2	A	G	X: 135,634,464 (GRCm39)	Y255H	probably benign	Het
Mybphl	T	A	3: 108,272,314 (GRCm39)	M1K	probably null	Het
Nelfcd	G	A	2: 174,268,625 (GRCm39)	A559T	possibly damaging	Het
Ofd1	C	A	X: 165,175,512 (GRCm39)	V951F	probably damaging	Het
Or4k51	G	T	2: 111,584,772 (GRCm39)	M59I	possibly damaging	Het
Or51r1	G	T	7: 102,227,836 (GRCm39)	V45F	probably benign	Het
Or6c208	T	A	10: 129,224,108 (GRCm39)	V202D	possibly damaging	Het
Parp12	G	A	6: 39,079,581 (GRCm39)	R310W	probably damaging	Het
Pcdh11x	T	A	X: 119,425,935 (GRCm39)	D1019E	probably benign	Het
Ppp1r9a	T	A	6: 5,110,993 (GRCm39)		probably benign	Het
Ptprz1	T	A	6: 23,030,581 (GRCm39)		probably benign	Het
Qser1	T	A	2: 104,617,344 (GRCm39)	N1156I	probably damaging	Het
Rgs3	T	A	4: 62,607,912 (GRCm39)	D59E	probably benign	Het
Rims2	T	C	15: 39,339,937 (GRCm39)	F917S	probably damaging	Het
Sap30bp	G	A	11: 115,855,078 (GRCm39)	V263M	possibly damaging	Het
Scart2	T	A	7: 139,876,682 (GRCm39)	V691E	probably damaging	Het
Scfd2	G	T	5: 74,691,596 (GRCm39)	H229N	possibly damaging	Het
Sspo	T	C	6: 48,436,349 (GRCm39)	V1233A	possibly damaging	Het
Stam	T	A	2: 14,151,201 (GRCm39)	Y519*	probably null	Het
Synj2	A	G	17: 6,069,679 (GRCm39)	T602A	probably damaging	Het
Tas2r126	C	T	6: 42,412,391 (GRCm39)	A308V	probably benign	Het
Tm4sf20	T	C	1: 82,745,948 (GRCm39)		probably benign	Het
Ttc23	G	A	7: 67,312,085 (GRCm39)		probably benign	Het
Vmn1r90	T	C	7: 14,295,229 (GRCm39)	I290V	probably damaging	Het
Xirp1	A	C	9: 119,847,605 (GRCm39)	L426W	probably damaging	Het
Zgrf1	T	G	3: 127,392,423 (GRCm39)	F430L	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
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
R7981:Mri1	UTSW	8	84,983,792 (GRCm39)	missense	possibly damaging	0.90
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

Posted On

2016-08-02