Mutagenetix > Incidental Mutation

Incidental Mutation 'R5088:Mpi'

387582

Institutional Source

Beutler Lab

Gene Symbol

Mpi

Ensembl Gene

ENSMUSG00000032306

Gene Name

mannose phosphate isomerase

Synonyms

Mpi-1, 1110002E17Rik, Mpi1

MMRRC Submission

042677-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5088 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57451539-57460046 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 57457887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 105 (T105M)

Ref Sequence

ENSEMBL: ENSMUSP00000034856 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034856]

AlphaFold

Q924M7

Predicted Effect

probably damaging
Transcript: ENSMUST00000034856
AA Change: T105M

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034856
Gene: ENSMUSG00000032306
AA Change: T105M

Domain	Start	End	E-Value	Type
Pfam:PMI_typeI	6	384	4.3e-145	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124593

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140671

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145543

Predicted Effect

unknown
Transcript: ENSMUST00000156428
AA Change: T101M

SMART Domains

Protein: ENSMUSP00000119342
Gene: ENSMUSG00000032306
AA Change: T101M

Domain	Start	End	E-Value	Type
Pfam:PMI_typeI	3	119	3.1e-45	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

99% (72/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphomannose isomerase catalyzes the interconversion of fructose-6-phosphate and mannose-6-phosphate and plays a critical role in maintaining the supply of D-mannose derivatives, which are required for most glycosylation reactions. Mutations in the MPI gene were found in patients with carbohydrate-deficient glycoprotein syndrome, type Ib. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygous null mice display embryonic lethality during organogenesis, variable abnormalities of the yolk sac and embryonic vasculature, and partial penetrance of abnormal chorioallantoic fusion, placental defects, impaired emrbyo turning, increased apoptosis, and posterior axial truncations. [provided by MGI curators]

Allele List at MGI

All alleles(6) : Targeted, other(2) Gene trapped(4)

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,883,939 (GRCm39)	C640S	probably damaging	Het
4931429L15Rik	T	C	9: 46,217,038 (GRCm39)	R246G	probably benign	Het
Aak1	T	C	6: 86,921,462 (GRCm39)		probably null	Het
Abcc5	A	G	16: 20,195,412 (GRCm39)	L695P	probably damaging	Het
Alcam	T	A	16: 52,109,290 (GRCm39)	T328S	probably damaging	Het
Alpk1	A	G	3: 127,478,969 (GRCm39)		probably benign	Het
Arel1	A	G	12: 84,970,889 (GRCm39)	L642P	probably damaging	Het
Atrip	T	C	9: 108,888,964 (GRCm39)	D741G	probably damaging	Het
Bmp1	T	C	14: 70,723,659 (GRCm39)	T726A	possibly damaging	Het
Bnip3	A	G	7: 138,496,337 (GRCm39)		probably null	Het
Cacng5	C	G	11: 107,768,215 (GRCm39)	C264S	possibly damaging	Het
Calr4	T	A	4: 109,101,859 (GRCm39)		probably benign	Het
Cdhr1	T	A	14: 36,811,422 (GRCm39)	T230S	probably benign	Het
Cdk16	T	C	X: 20,562,566 (GRCm39)		probably benign	Het
Cenpj	T	C	14: 56,791,148 (GRCm39)	E337G	probably damaging	Het
Chd9	A	G	8: 91,704,147 (GRCm39)	I694V	possibly damaging	Het
Chsy3	T	A	18: 59,312,607 (GRCm39)	V360D	probably damaging	Het
Col16a1	C	T	4: 129,972,988 (GRCm39)	T643M	probably benign	Het
Col5a1	G	A	2: 27,908,614 (GRCm39)	W67*	probably null	Het
Cyp20a1	A	T	1: 60,402,509 (GRCm39)	H198L	probably damaging	Het
Dnai1	T	A	4: 41,597,630 (GRCm39)	S38T	probably benign	Het
Dnai1	T	G	4: 41,632,251 (GRCm39)	S562A	probably benign	Het
Dpy19l4	G	T	4: 11,303,357 (GRCm39)	T188K	probably damaging	Het
Ergic2	A	G	6: 148,084,621 (GRCm39)	V304A	probably damaging	Het
Fam83a	A	G	15: 57,873,196 (GRCm39)	T342A	probably benign	Het
Fbxo7	A	G	10: 85,857,784 (GRCm39)		probably benign	Het
Gins4	T	C	8: 23,727,084 (GRCm39)	E3G	possibly damaging	Het
Glis3	G	A	19: 28,508,979 (GRCm39)	P335L	probably benign	Het
Golph3l	A	T	3: 95,524,501 (GRCm39)	T251S	possibly damaging	Het
Hnf4g	C	T	3: 3,722,181 (GRCm39)	A445V	probably benign	Het
Hykk	A	G	9: 54,853,763 (GRCm39)	I362V	probably benign	Het
Il6st	G	A	13: 112,627,089 (GRCm39)	V294M	probably damaging	Het
Itpr1	A	G	6: 108,366,348 (GRCm39)	I92V	probably damaging	Het
Kdm4c	T	C	4: 74,252,936 (GRCm39)	L501P	probably benign	Het
Mrpl37	A	T	4: 106,921,919 (GRCm39)	L132H	probably damaging	Het
Muc5ac	A	T	7: 141,350,056 (GRCm39)	T600S	possibly damaging	Het
Npl	A	T	1: 153,384,890 (GRCm39)	I249N	possibly damaging	Het
Or10j27	C	T	1: 172,958,606 (GRCm39)	M59I	probably damaging	Het
Or7g30	A	G	9: 19,353,067 (GRCm39)	N286S	probably damaging	Het
Pkd1	A	G	17: 24,809,812 (GRCm39)	K3497E	possibly damaging	Het
Ptprt	T	C	2: 162,080,095 (GRCm39)	N235D	probably benign	Het
Rangap1	A	C	15: 81,594,664 (GRCm39)	D388E	probably benign	Het
Rcvrn	A	T	11: 67,586,340 (GRCm39)	Q33L	probably benign	Het
Rif1	A	T	2: 51,982,307 (GRCm39)	K524I	possibly damaging	Het
Rnf139	A	T	15: 58,771,790 (GRCm39)	N605I	possibly damaging	Het
Ryr2	C	A	13: 11,727,129 (GRCm39)	G2411*	probably null	Het
Scn3a	A	T	2: 65,302,643 (GRCm39)	S1268T	probably damaging	Het
Sema6a	T	A	18: 47,382,196 (GRCm39)	I784F	probably damaging	Het
Sgms2	C	T	3: 131,124,005 (GRCm39)	V232M	probably benign	Het
Skint7	T	C	4: 111,837,627 (GRCm39)	I135T	possibly damaging	Het
Smchd1	A	T	17: 71,738,343 (GRCm39)	N507K	possibly damaging	Het
Spata31d1a	A	C	13: 59,848,966 (GRCm39)		probably null	Het
Spata7	A	T	12: 98,635,761 (GRCm39)	D527V	probably benign	Het
Srcap	A	G	7: 127,140,833 (GRCm39)	T1477A	probably benign	Het
Srl	C	A	16: 4,300,633 (GRCm39)	D375Y	probably damaging	Het
Stk4	A	T	2: 163,925,608 (GRCm39)	K58*	probably null	Het
Svep1	T	G	4: 58,120,648 (GRCm39)	H795P	possibly damaging	Het
Trak2	T	A	1: 58,974,967 (GRCm39)	Q75L	probably benign	Het
Ubxn2a	T	A	12: 4,933,904 (GRCm39)	N169I	probably damaging	Het
Vmn1r216	T	A	13: 23,283,473 (GRCm39)	L52*	probably null	Het
Vmn2r108	A	T	17: 20,690,454 (GRCm39)	N459K	possibly damaging	Het
Vstm5	A	G	9: 15,168,601 (GRCm39)	D55G	possibly damaging	Het
Wdr24	T	A	17: 26,047,181 (GRCm39)		probably null	Het
Zfp13	C	A	17: 23,796,035 (GRCm39)	E179*	probably null	Het
Zfp839	T	C	12: 110,834,610 (GRCm39)	S546P	probably damaging	Het

Other mutations in Mpi

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00921:Mpi	APN	9	57,459,549 (GRCm39)	missense	probably damaging	1.00
IGL01071:Mpi	APN	9	57,457,875 (GRCm39)	missense	probably damaging	1.00
IGL01604:Mpi	APN	9	57,458,025 (GRCm39)	missense	possibly damaging	0.85
IGL02090:Mpi	APN	9	57,457,936 (GRCm39)	missense	probably benign	0.00
benadryl	UTSW	9	57,458,040 (GRCm39)	missense	probably damaging	1.00
sleepies	UTSW	9	57,452,472 (GRCm39)	unclassified	probably benign
Zyrtec	UTSW	9	57,452,500 (GRCm39)	missense	probably damaging	1.00
F6893:Mpi	UTSW	9	57,453,832 (GRCm39)	missense	probably benign	0.12
R0751:Mpi	UTSW	9	57,457,897 (GRCm39)	missense	probably damaging	1.00
R1146:Mpi	UTSW	9	57,452,472 (GRCm39)	unclassified	probably benign
R3727:Mpi	UTSW	9	57,452,132 (GRCm39)	missense	possibly damaging	0.69
R3944:Mpi	UTSW	9	57,452,536 (GRCm39)	missense	probably damaging	1.00
R4645:Mpi	UTSW	9	57,458,040 (GRCm39)	missense	probably damaging	1.00
R4772:Mpi	UTSW	9	57,452,181 (GRCm39)	missense	probably damaging	1.00
R4856:Mpi	UTSW	9	57,452,590 (GRCm39)	missense	probably damaging	1.00
R5504:Mpi	UTSW	9	57,452,500 (GRCm39)	missense	probably damaging	1.00
R5886:Mpi	UTSW	9	57,455,745 (GRCm39)	unclassified	probably benign
R7038:Mpi	UTSW	9	57,452,500 (GRCm39)	missense	probably damaging	1.00
R7953:Mpi	UTSW	9	57,457,881 (GRCm39)	missense	probably damaging	1.00
R8043:Mpi	UTSW	9	57,457,881 (GRCm39)	missense	probably damaging	1.00
R8296:Mpi	UTSW	9	57,455,954 (GRCm39)	missense	probably benign	0.00
R8436:Mpi	UTSW	9	57,452,200 (GRCm39)	missense	probably damaging	1.00
R9696:Mpi	UTSW	9	57,452,539 (GRCm39)	missense	probably benign	0.01
R9742:Mpi	UTSW	9	57,452,606 (GRCm39)	missense	probably damaging	1.00
RF013:Mpi	UTSW	9	57,455,924 (GRCm39)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- TGTGTCACCAGCATCTGAG -3'
(R):5'- ACATCCAGGGCTGTCAGTTG -3'

Sequencing Primer
(F):5'- TCACCAGCATCTGAGCCTGAG -3'
(R):5'- CAGGGCTGTCAGTTGCTTCC -3'

Posted On

2016-06-06