Mutagenetix > Incidental Mutation

Incidental Mutation 'R7340:Mri1'

569777

Institutional Source

Beutler Lab

Gene Symbol

Mri1

Ensembl Gene

ENSMUSG00000004996

Gene Name

methylthioribose-1-phosphate isomerase 1

Synonyms

2410018C20Rik

MMRRC Submission

045430-MU

Accession Numbers

Essential gene?

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

Stock #

R7340 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84977205-84983953 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 84983525 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 122 (R122Q)

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: R117Q

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

probably benign
Transcript: ENSMUST00000126435
AA Change: R122Q

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000122623
Gene: ENSMUSG00000004996
AA Change: R122Q

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

Meta Mutation Damage Score

0.1861

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (83/84)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,130,211 (GRCm39)	D282N	probably damaging	Het
Adam30	A	T	3: 98,069,637 (GRCm39)	N490I	probably benign	Het
Ankrd55	A	T	13: 112,492,497 (GRCm39)	I223F	probably damaging	Het
Ano8	T	A	8: 71,935,655 (GRCm39)	E321V	probably damaging	Het
Apc2	A	G	10: 80,149,316 (GRCm39)	K1457E	probably benign	Het
Asb15	T	A	6: 24,558,513 (GRCm39)	V38E	probably benign	Het
Atp4a	T	C	7: 30,416,155 (GRCm39)	S417P	possibly damaging	Het
AY358078	A	G	14: 52,063,716 (GRCm39)	N454S	probably damaging	Het
Cables2	A	G	2: 179,903,450 (GRCm39)	Y245H		Het
Cactin	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	10: 81,157,152 (GRCm39)		probably benign	Het
Camsap3	G	A	8: 3,637,960 (GRCm39)		probably null	Het
Ccdc178	A	T	18: 22,150,518 (GRCm39)	V705E	probably benign	Het
Ccdc47	T	C	11: 106,091,799 (GRCm39)	Q472R	possibly damaging	Het
Ccdc62	A	G	5: 124,089,283 (GRCm39)	D307G	probably damaging	Het
Cdcp3	A	G	7: 130,879,344 (GRCm39)	T1788A	unknown	Het
Cdh23	A	G	10: 60,366,775 (GRCm39)	I235T	probably benign	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Cfap65	T	C	1: 74,960,742 (GRCm39)	N743D	probably benign	Het
Cimap1b	T	A	15: 89,262,610 (GRCm39)	T116S	probably benign	Het
Clec16a	A	G	16: 10,398,827 (GRCm39)	N329S	probably null	Het
Col25a1	A	G	3: 130,340,006 (GRCm39)		probably null	Het
Daam1	T	G	12: 72,035,713 (GRCm39)	D969E	probably benign	Het
Dntt	A	C	19: 41,047,004 (GRCm39)		probably null	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
Dst	T	A	1: 34,229,810 (GRCm39)	Y2468N	probably benign	Het
Exosc9	A	G	3: 36,615,297 (GRCm39)	T262A	possibly damaging	Het
Exph5	G	A	9: 53,288,309 (GRCm39)	A1797T	probably damaging	Het
Fbp2	A	T	13: 62,985,061 (GRCm39)	Y287N	probably damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Fus	T	A	7: 127,581,123 (GRCm39)		probably null	Het
Galnt9	T	A	5: 110,762,054 (GRCm39)	N397K	probably damaging	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gga1	A	G	15: 78,775,651 (GRCm39)	T369A	probably benign	Het
Gp1ba	T	C	11: 70,531,119 (GRCm39)	I295T	unknown	Het
Hk2	T	C	6: 82,705,873 (GRCm39)	E810G	probably benign	Het
Igsf10	A	G	3: 59,233,189 (GRCm39)	V1848A	probably damaging	Het
Insrr	G	A	3: 87,721,623 (GRCm39)		probably null	Het
Ip6k3	T	A	17: 27,367,504 (GRCm39)	M231L	probably benign	Het
Itgb8	T	C	12: 119,155,939 (GRCm39)	N171S	probably benign	Het
Ldlrad3	T	C	2: 101,897,184 (GRCm39)		probably null	Het
Ltbp1	T	A	17: 75,634,223 (GRCm39)	C886*	probably null	Het
Mettl13	T	C	1: 162,366,547 (GRCm39)	D444G	probably benign	Het
Mns1	A	G	9: 72,356,025 (GRCm39)	Y224C	probably damaging	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Myo5c	A	C	9: 75,196,423 (GRCm39)	K1290Q	probably benign	Het
Nlrp12	T	G	7: 3,281,755 (GRCm39)	Q842H	possibly damaging	Het
Oga	G	A	19: 45,755,895 (GRCm39)	Q583*	probably null	Het
Or14c44	T	C	7: 86,061,957 (GRCm39)	L129P	possibly damaging	Het
Or14j8	T	A	17: 38,263,413 (GRCm39)	R167S	probably benign	Het
Or2t1	A	T	14: 14,328,401 (GRCm38)	T97S	possibly damaging	Het
Or5d39	T	C	2: 87,979,620 (GRCm39)	T248A	possibly damaging	Het
Otoa	A	G	7: 120,729,288 (GRCm39)	T554A	probably benign	Het
Per1	A	G	11: 68,994,008 (GRCm39)	D438G	probably damaging	Het
Phactr3	G	A	2: 177,975,854 (GRCm39)	R533H	probably damaging	Het
Phykpl	T	C	11: 51,490,370 (GRCm39)	F417S	probably damaging	Het
Pole	A	T	5: 110,482,330 (GRCm39)	T2057S	probably benign	Het
Polq	A	G	16: 36,881,288 (GRCm39)	T1151A	probably benign	Het
Polr1g	T	C	7: 19,093,073 (GRCm39)	T36A	probably benign	Het
Rbm26	A	T	14: 105,389,976 (GRCm39)	V216E	possibly damaging	Het
Ryk	T	C	9: 102,775,737 (GRCm39)	I449T	probably damaging	Het
Sap25	A	G	5: 137,640,935 (GRCm39)	T225A	probably benign	Het
Sart3	A	G	5: 113,882,728 (GRCm39)	M864T	probably benign	Het
Sec31b	T	C	19: 44,517,161 (GRCm39)	S280G	probably benign	Het
Sema4d	A	T	13: 51,877,598 (GRCm39)	I78N	probably damaging	Het
Sgip1	G	C	4: 102,778,661 (GRCm39)	R419S	unknown	Het
Slc13a3	T	C	2: 165,272,210 (GRCm39)	I278V	probably benign	Het
Slc2a5	A	G	4: 150,224,439 (GRCm39)	D312G	probably benign	Het
Slc39a2	A	T	14: 52,131,660 (GRCm39)	Q77L	possibly damaging	Het
Srbd1	A	T	17: 86,443,782 (GRCm39)	V148E	probably benign	Het
Syngr2	A	G	11: 117,703,322 (GRCm39)	E46G	probably damaging	Het
Taok1	A	G	11: 77,470,643 (GRCm39)	V54A	possibly damaging	Het
Tas2r106	T	A	6: 131,655,185 (GRCm39)	H222L	probably damaging	Het
Tcaf3	A	G	6: 42,566,848 (GRCm39)	I747T	probably benign	Het
Tmem151b	G	T	17: 45,856,195 (GRCm39)	P415Q	probably benign	Het
Tmf1	T	C	6: 97,145,061 (GRCm39)	D659G	possibly damaging	Het
Tnn	G	T	1: 159,973,592 (GRCm39)	D258E	probably damaging	Het
Traj33	A	G	14: 54,422,862 (GRCm39)	I16V	unknown	Het
Ttll13	G	T	7: 79,906,772 (GRCm39)	C480F	probably damaging	Het
Ttn	T	C	2: 76,714,415 (GRCm39)	N8137S	unknown	Het
Vmn1r85	T	C	7: 12,819,073 (GRCm39)	N24D	probably damaging	Het
Wdr81	T	C	11: 75,335,525 (GRCm39)	Q649R	probably null	Het
Zan	T	C	5: 137,382,092 (GRCm39)	T5152A	unknown	Het
Zc3h6	A	G	2: 128,835,110 (GRCm39)	D82G	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
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

Predicted Primers

PCR Primer
(F):5'- ACCTCTGTGATGATGACGTC -3'
(R):5'- AGAGCACTGCCACTATGAGG -3'

Sequencing Primer
(F):5'- CCTGGAGATGAAGTTCTAACTCCAG -3'
(R):5'- ACTATGAGGCACTGAGCTCC -3'

Posted On

2019-09-13