Mutagenetix > Incidental Mutation

Incidental Mutation 'R7038:Mpi'

546861

Institutional Source

Beutler Lab

Gene Symbol

Mpi

Ensembl Gene

ENSMUSG00000032306

Gene Name

mannose phosphate isomerase

Synonyms

Mpi-1, 1110002E17Rik, Mpi1

MMRRC Submission

045138-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7038 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57451539-57460046 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57452500 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 344 (D344G)

Ref Sequence

ENSEMBL: ENSMUSP00000034856 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034856] [ENSMUST00000093833] [ENSMUST00000114200]

AlphaFold

Q924M7

Predicted Effect

probably damaging
Transcript: ENSMUST00000034856
AA Change: D344G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034856
Gene: ENSMUSG00000032306
AA Change: D344G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000093833

SMART Domains

Protein: ENSMUSP00000091353
Gene: ENSMUSG00000032305

Domain	Start	End	E-Value	Type
Pfam:FAM219A	72	128	4.2e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114200

SMART Domains

Protein: ENSMUSP00000109838
Gene: ENSMUSG00000032305

Domain	Start	End	E-Value	Type
Pfam:FAM219A	72	197	1.6e-62	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124593

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140671

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145543

Predicted Effect

probably benign
Transcript: ENSMUST00000156428

SMART Domains

Protein: ENSMUSP00000119342
Gene: ENSMUSG00000032306

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

Meta Mutation Damage Score

0.8197

Coding Region Coverage

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

Validation Efficiency

99% (101/102)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	T	C	1: 156,468,979 (GRCm39)	S748P	possibly damaging	Het
Alppl2	T	C	1: 87,016,833 (GRCm39)	D104G	probably damaging	Het
Als2	C	A	1: 59,206,673 (GRCm39)	W1590L	possibly damaging	Het
Aopep	G	T	13: 63,338,339 (GRCm39)	V571F	possibly damaging	Het
Aplf	C	T	6: 87,630,805 (GRCm39)	W210*	probably null	Het
Ash1l	A	T	3: 88,889,978 (GRCm39)	H619L	probably benign	Het
Baiap3	G	A	17: 25,462,814 (GRCm39)	R1075C	probably benign	Het
Bpifb1	G	T	2: 154,044,589 (GRCm39)	V19F	probably damaging	Het
Capn1	A	T	19: 6,064,349 (GRCm39)	L50Q	probably benign	Het
Carmil1	A	G	13: 24,323,318 (GRCm39)	S245P	probably damaging	Het
Cavin4	A	G	4: 48,672,479 (GRCm39)	H308R	probably benign	Het
Cd4	C	T	6: 124,847,217 (GRCm39)	V316M	probably damaging	Het
Cdcp1	T	C	9: 123,002,662 (GRCm39)	Y803C	probably damaging	Het
Cep295nl	A	G	11: 118,223,815 (GRCm39)	I343T	probably benign	Het
Cgn	T	G	3: 94,670,392 (GRCm39)	T1021P	possibly damaging	Het
Cilk1	C	T	9: 78,016,484 (GRCm39)		probably benign	Het
Col6a5	A	G	9: 105,822,937 (GRCm39)	V140A	unknown	Het
Cops8	T	C	1: 90,531,320 (GRCm39)		probably benign	Het
Crhbp	A	G	13: 95,580,699 (GRCm39)	Y54H	probably damaging	Het
Cyp2c29	G	A	19: 39,275,571 (GRCm39)	V4I	probably benign	Het
Cyp2j6	T	A	4: 96,423,708 (GRCm39)	Y220F	probably benign	Het
D130043K22Rik	A	G	13: 25,077,391 (GRCm39)	D1008G	probably damaging	Het
Ddx47	T	A	6: 135,000,336 (GRCm39)	V444E	possibly damaging	Het
Dnttip2	T	A	3: 122,070,181 (GRCm39)	C465*	probably null	Het
Dst	C	A	1: 34,221,879 (GRCm39)	S2561*	probably null	Het
Dstyk	T	C	1: 132,381,847 (GRCm39)	S534P	probably benign	Het
Eif4e	A	G	3: 138,232,943 (GRCm39)		probably benign	Het
Eipr1	C	T	12: 28,801,817 (GRCm39)		probably benign	Het
Fastkd2	T	A	1: 63,771,032 (GRCm39)	D129E	possibly damaging	Het
Fndc3b	C	T	3: 27,555,618 (GRCm39)	G312D	probably benign	Het
Gab2	T	A	7: 96,952,290 (GRCm39)	I562N	probably damaging	Het
Gata5	C	A	2: 179,975,685 (GRCm39)	D160Y	possibly damaging	Het
Gcn1	G	A	5: 115,749,203 (GRCm39)	V1912I	probably damaging	Het
Gdf5	C	A	2: 155,786,655 (GRCm39)	Q107H	probably damaging	Het
Gdpd1	A	G	11: 86,926,118 (GRCm39)	Y276H	probably damaging	Het
Gins1	A	G	2: 150,759,791 (GRCm39)	Y81C	probably damaging	Het
Gm28360	T	C	1: 117,781,329 (GRCm39)	C107R	probably damaging	Het
Hadha	T	C	5: 30,324,998 (GRCm39)		probably null	Het
Hcn4	A	T	9: 58,730,867 (GRCm39)	I25F	unknown	Het
Hectd4	A	G	5: 121,437,660 (GRCm39)	Y1095C	possibly damaging	Het
Hsp90b1	A	T	10: 86,531,730 (GRCm39)	L73Q	probably damaging	Het
Hspa12a	A	G	19: 58,793,132 (GRCm39)	V351A	probably damaging	Het
Htr1b	T	A	9: 81,514,296 (GRCm39)	M104L	probably benign	Het
Igf2r	T	C	17: 12,917,212 (GRCm39)	T1563A	probably benign	Het
Kif13a	C	T	13: 46,905,931 (GRCm39)	V671M	possibly damaging	Het
Liph	A	T	16: 21,795,009 (GRCm39)	V201E	probably damaging	Het
Ltn1	T	C	16: 87,221,759 (GRCm39)	D196G	probably damaging	Het
Med15	C	T	16: 17,470,591 (GRCm39)	D589N	possibly damaging	Het
Mknk1	A	G	4: 115,714,307 (GRCm39)	D26G	probably damaging	Het
Mrc2	A	G	11: 105,223,062 (GRCm39)	E435G	possibly damaging	Het
Mrps5	A	G	2: 127,442,786 (GRCm39)	E285G	probably damaging	Het
Ms4a20	A	T	19: 11,087,675 (GRCm39)	F85L	probably benign	Het
Muc16	T	A	9: 18,531,764 (GRCm39)	M6197L	probably damaging	Het
Myo3b	A	T	2: 69,925,552 (GRCm39)	E34D	probably benign	Het
Nsd3	T	C	8: 26,131,279 (GRCm39)	S215P	probably damaging	Het
Nsmce2	T	A	15: 59,368,679 (GRCm39)		probably benign	Het
Ntan1	T	C	16: 13,644,774 (GRCm39)	S37P	probably benign	Het
Nup210l	T	A	3: 90,067,254 (GRCm39)	Y765N	probably damaging	Het
Or10q12	A	T	19: 13,745,715 (GRCm39)	D3V	probably benign	Het
Or2aa1	T	C	11: 59,480,408 (GRCm39)	Y169C	possibly damaging	Het
Or4s2b	A	T	2: 88,509,085 (GRCm39)	R288S	probably damaging	Het
Or7g30	A	C	9: 19,352,888 (GRCm39)	L226F	possibly damaging	Het
Pald1	T	C	10: 61,175,078 (GRCm39)	H724R	probably benign	Het
Pcdhb7	A	T	18: 37,475,257 (GRCm39)	D131V	possibly damaging	Het
Pds5b	G	T	5: 150,724,225 (GRCm39)	R1269S	probably benign	Het
Pikfyve	T	C	1: 65,273,520 (GRCm39)	V645A	probably damaging	Het
Plag1	G	T	4: 3,904,676 (GRCm39)	H172N	probably damaging	Het
Plch2	G	C	4: 155,074,489 (GRCm39)		probably null	Het
Plxnb1	T	A	9: 108,929,453 (GRCm39)	V103E	probably damaging	Het
Prpf8	T	A	11: 75,386,984 (GRCm39)	M1143K	probably benign	Het
Ptpn18	T	A	1: 34,498,906 (GRCm39)	M1K	probably null	Het
Rasgrf2	G	A	13: 92,130,952 (GRCm39)	T703I	possibly damaging	Het
Rassf6	A	T	5: 90,757,584 (GRCm39)	H125Q	probably benign	Het
Sdad1	A	G	5: 92,446,049 (GRCm39)		probably null	Het
Sf3a3	T	A	4: 124,622,219 (GRCm39)	F426L	probably benign	Het
Sgsm3	T	C	15: 80,892,576 (GRCm39)	F6L	possibly damaging	Het
Slc14a2	A	T	18: 78,202,252 (GRCm39)	I626N	probably damaging	Het
Slc17a8	T	C	10: 89,436,083 (GRCm39)	N165S	probably benign	Het
Slc41a1	C	A	1: 131,769,795 (GRCm39)	A305D	possibly damaging	Het
Smyd4	C	A	11: 75,281,340 (GRCm39)	P271Q	probably damaging	Het
Spag17	C	A	3: 99,891,925 (GRCm39)	H260N	probably benign	Het
Spata2	A	T	2: 167,327,283 (GRCm39)	V38E	possibly damaging	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
Syt14	T	A	1: 192,665,966 (GRCm39)		probably benign	Het
Tbx21	A	G	11: 96,990,597 (GRCm39)	S329P	probably damaging	Het
Tex2	A	T	11: 106,402,726 (GRCm39)		probably null	Het
Tmem62	A	G	2: 120,824,058 (GRCm39)	I244M	possibly damaging	Het
Tnks	A	T	8: 35,318,790 (GRCm39)	N830K	probably damaging	Het
Tox2	A	G	2: 163,156,264 (GRCm39)	E145G	probably damaging	Het
Tpcn1	T	C	5: 120,723,342 (GRCm39)	D7G	probably damaging	Het
Ttc28	T	A	5: 111,414,445 (GRCm39)	M1320K	probably benign	Het
Tubgcp5	T	G	7: 55,455,114 (GRCm39)	V270G	probably damaging	Het
Unc5a	A	G	13: 55,152,297 (GRCm39)	R62G	probably damaging	Het
Unc5d	A	G	8: 29,205,749 (GRCm39)		probably null	Het
Utrn	T	C	10: 12,558,082 (GRCm39)	H1459R	probably damaging	Het
Vmn2r100	T	A	17: 19,725,263 (GRCm39)	L64Q	possibly damaging	Het
Wdr55	T	G	18: 36,893,473 (GRCm39)	L45R	probably damaging	Het
Zfp292	A	G	4: 34,816,357 (GRCm39)	Y306H	probably damaging	Het
Zfp398	G	T	6: 47,843,243 (GRCm39)	D300Y	probably damaging	Het
Zfp407	A	G	18: 84,579,982 (GRCm39)	V377A	probably damaging	Het
Zfp457	G	A	13: 67,441,997 (GRCm39)	H97Y	probably benign	Het
Zfp467	T	C	6: 48,415,072 (GRCm39)	T527A	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
R5088:Mpi	UTSW	9	57,457,887 (GRCm39)	missense	probably damaging	0.97
R5504:Mpi	UTSW	9	57,452,500 (GRCm39)	missense	probably damaging	1.00
R5886:Mpi	UTSW	9	57,455,745 (GRCm39)	unclassified	probably benign
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'- ACTACGAAGGCCCACATCTG -3'
(R):5'- AACTTCCATGGCGTACTTCACC -3'

Sequencing Primer
(F):5'- ATCTGGTCCCTGGCAGAGAG -3'
(R):5'- CTCTAGACTGCGTGGAATGC -3'

Posted On

2019-05-13