Mutagenetix > Incidental Mutation

Incidental Mutation 'R9577:Mri1'

722362

Institutional Source

Beutler Lab

Gene Symbol

Mri1

Ensembl Gene

ENSMUSG00000004996

Gene Name

methylthioribose-1-phosphate isomerase 1

Synonyms

2410018C20Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9577 (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 G at 84982929 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 164 (V164A)

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

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: ENSMUST00000098578

SMART Domains

Protein: ENSMUSP00000096177
Gene: ENSMUSG00000004994

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000117115
Gene: ENSMUSG00000004996
AA Change: V38A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000126435
AA Change: V164A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122623
Gene: ENSMUSG00000004996
AA Change: V164A

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: 99.7%
20x: 99.0%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	G	T	18: 24,608,663 (GRCm39)	A128S	probably benign	Het
Abca14	T	C	7: 119,810,768 (GRCm39)	Y116H	probably benign	Het
Aipl1	C	T	11: 71,928,253 (GRCm39)	G11D	probably damaging	Het
Ankar	C	A	1: 72,721,067 (GRCm39)	V464L	probably benign	Het
Arap2	A	T	5: 62,769,060 (GRCm39)	I1526N	probably damaging	Het
Atad5	T	A	11: 80,004,996 (GRCm39)	N1144K	probably damaging	Het
B3gntl1	T	C	11: 121,515,040 (GRCm39)	T243A	probably benign	Het
Baz2b	T	C	2: 59,809,031 (GRCm39)	T73A	probably benign	Het
Bnip5	A	T	17: 29,128,382 (GRCm39)	I177K	probably benign	Het
Brms1l	A	G	12: 55,906,876 (GRCm39)	S148G	probably damaging	Het
Btnl1	A	G	17: 34,603,335 (GRCm39)	D332G	probably benign	Het
Card9	T	A	2: 26,242,344 (GRCm39)	T531S	probably damaging	Het
Ccdc71	C	T	9: 108,340,472 (GRCm39)	A95V	possibly damaging	Het
Cdh23	A	G	10: 60,146,895 (GRCm39)	V2787A	probably damaging	Het
Chd7	A	G	4: 8,752,964 (GRCm39)	E487G	unknown	Het
Col22a1	T	C	15: 71,837,595 (GRCm39)	K505R	probably damaging	Het
Dennd1b	T	C	1: 139,018,196 (GRCm39)	V180A		Het
Dmxl2	A	G	9: 54,323,664 (GRCm39)	V1066A	unknown	Het
Dnah9	C	T	11: 65,867,347 (GRCm39)	V2744M	probably benign	Het
Fam83e	G	T	7: 45,376,439 (GRCm39)	R384L	possibly damaging	Het
Fbxo42	T	A	4: 140,907,743 (GRCm39)	Y134*	probably null	Het
Fmn1	C	T	2: 113,194,470 (GRCm39)	P57S	unknown	Het
Gm6309	T	C	5: 146,105,700 (GRCm39)	R155G	possibly damaging	Het
Gnpda1	T	C	18: 38,463,605 (GRCm39)	T235A	probably benign	Het
Gsdmc2	T	A	15: 63,696,906 (GRCm39)	I422F	probably damaging	Het
Itfg1	A	G	8: 86,502,798 (GRCm39)	V256A	probably benign	Het
Kcnk2	CAAA	CAA	1: 188,988,891 (GRCm39)		probably null	Het
Kif14	T	C	1: 136,399,138 (GRCm39)	V433A	probably benign	Het
Kif3a	T	C	11: 53,475,231 (GRCm39)	F363S	probably damaging	Het
Lman2l	T	C	1: 36,467,490 (GRCm39)	D186G	probably damaging	Het
Lmntd2	T	C	7: 140,790,990 (GRCm39)	T448A	probably benign	Het
Magi2	C	T	5: 20,814,282 (GRCm39)	A898V	probably damaging	Het
Myb	C	T	10: 21,030,612 (GRCm39)	D62N	probably benign	Het
Nxpe2	G	A	9: 48,237,632 (GRCm39)	R208*	probably null	Het
Or1j1	C	A	2: 36,702,567 (GRCm39)	C179F	probably damaging	Het
Or8g28	A	G	9: 39,169,737 (GRCm39)	V77A	possibly damaging	Het
Pcdha12	C	T	18: 37,155,126 (GRCm39)	A615V	probably benign	Het
Pou4f3	C	G	18: 42,528,563 (GRCm39)	P169A	probably benign	Het
Pramel52-ps	A	T	5: 94,531,805 (GRCm39)	R230*	probably null	Het
Prss36	T	C	7: 127,533,673 (GRCm39)	I556V	probably benign	Het
Psg23	A	T	7: 18,346,067 (GRCm39)	D209E	probably benign	Het
Ptpn13	C	A	5: 103,676,675 (GRCm39)	D679E	probably damaging	Het
Ptprz1	G	T	6: 23,002,202 (GRCm39)	D1431Y	probably damaging	Het
Sdccag8	T	A	1: 176,658,629 (GRCm39)	L143M	probably damaging	Het
Shroom1	A	G	11: 53,357,612 (GRCm39)	Q721R	probably benign	Het
Spdye4b	A	G	5: 143,182,055 (GRCm39)	M118V	probably damaging	Het
Tbc1d1	T	A	5: 64,473,699 (GRCm39)	S741T	possibly damaging	Het
Tbx18	A	G	9: 87,611,512 (GRCm39)		probably null	Het
Tm9sf4	T	C	2: 153,037,294 (GRCm39)	F385S	probably benign	Het
Trpm4	A	T	7: 44,954,432 (GRCm39)	L1133*	probably null	Het
Trpm5	A	G	7: 142,633,131 (GRCm39)		probably null	Het
Ube4b	A	G	4: 149,468,231 (GRCm39)	S182P	possibly damaging	Het
Ugt2b36	T	C	5: 87,228,784 (GRCm39)	T420A	probably benign	Het
Vipr1	G	A	9: 121,471,993 (GRCm39)		probably null	Het
Zc3h6	T	A	2: 128,858,102 (GRCm39)	I711K		Het
Zer1	T	C	2: 29,991,050 (GRCm39)	Y726C	probably 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
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
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'- CCTGGATTTTGTGTATTCTAAGCTAAG -3'
(R):5'- CAAAGTTAGCCAGCTCCCTTC -3'

Sequencing Primer
(F):5'- ATCCCATTACAGACGGGTTG -3'
(R):5'- TTCCAACAGTGCTAAGAGCTTC -3'

Posted On

2022-08-09