Mutagenetix > Incidental Mutation

Incidental Mutation 'R4856:Mpi'

373974

Institutional Source

Beutler Lab

Gene Symbol

Mpi

Ensembl Gene

ENSMUSG00000032306

Gene Name

mannose phosphate isomerase

Synonyms

Mpi-1, 1110002E17Rik, Mpi1

MMRRC Submission

042467-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4856 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57451539-57460046 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57452590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 314 (Y314C)

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: Y314C

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

SMART Domains

Protein: ENSMUSP00000034856
Gene: ENSMUSG00000032306
AA Change: Y314C

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

Validation Efficiency

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp2	G	A	6: 140,589,799 (GRCm39)		probably null	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp2b4	T	A	1: 133,634,518 (GRCm39)	I1177L	probably benign	Het
Bub3	A	T	7: 131,163,297 (GRCm39)	D76V	probably damaging	Het
Cacna2d4	G	A	6: 119,255,217 (GRCm39)	R578Q	possibly damaging	Het
Caprin2	A	C	6: 148,774,509 (GRCm39)	S268A	probably benign	Het
Card6	T	C	15: 5,134,623 (GRCm39)		probably null	Het
Cdk13	A	G	13: 17,894,319 (GRCm39)	S1103P	probably benign	Het
Cfap221	T	C	1: 119,861,934 (GRCm39)	T614A	probably damaging	Het
Cfap221	T	A	1: 119,912,488 (GRCm39)	Y133F	probably damaging	Het
Clcc1	A	G	3: 108,584,154 (GRCm39)	T513A	probably benign	Het
Clec4g	T	A	8: 3,766,419 (GRCm39)		probably benign	Het
Cntln	A	C	4: 84,889,466 (GRCm39)	E316D	probably benign	Het
Cpne2	T	A	8: 95,290,592 (GRCm39)	D392E	probably benign	Het
Cry1	G	T	10: 84,984,634 (GRCm39)	P147T	probably damaging	Het
Cyp4a29	T	C	4: 115,110,078 (GRCm39)	V440A	probably benign	Het
Ddx46	A	G	13: 55,786,012 (GRCm39)	D64G	unknown	Het
Dhx34	A	G	7: 15,949,367 (GRCm39)	S354P	possibly damaging	Het
Ecm2	A	T	13: 49,676,263 (GRCm39)	I327F	possibly damaging	Het
Elavl3	T	C	9: 21,937,614 (GRCm39)	K189E	possibly damaging	Het
Enam	A	T	5: 88,636,593 (GRCm39)	R82*	probably null	Het
Erf	A	G	7: 24,945,636 (GRCm39)	V45A	probably damaging	Het
Fat3	T	A	9: 15,932,626 (GRCm39)	I1436F	probably benign	Het
Flnc	T	C	6: 29,447,889 (GRCm39)	Y1231H	probably damaging	Het
Ggta1	T	A	2: 35,292,803 (GRCm39)	H180L	possibly damaging	Het
Grin2c	T	C	11: 115,151,616 (GRCm39)	T115A	probably damaging	Het
H6pd	C	T	4: 150,067,235 (GRCm39)	V384M	possibly damaging	Het
Hba-x	A	G	11: 32,227,008 (GRCm39)	E39G	probably benign	Het
Hnrnpul2	C	T	19: 8,807,191 (GRCm39)	P618S	probably benign	Het
Hpse2	C	T	19: 42,777,396 (GRCm39)	R590H	probably damaging	Het
Ighv1-54	C	A	12: 115,157,423 (GRCm39)	G75C	probably damaging	Het
Ighv8-11	C	A	12: 115,530,774 (GRCm39)	R118L	possibly damaging	Het
Iqcm	A	T	8: 76,615,228 (GRCm39)	R436S	possibly damaging	Het
Islr	T	C	9: 58,064,889 (GRCm39)	D206G	probably damaging	Het
Itih1	A	G	14: 30,658,658 (GRCm39)		probably null	Het
Jam2	G	A	16: 84,598,490 (GRCm39)	D34N	probably benign	Het
Klhl14	A	T	18: 21,691,029 (GRCm39)		probably null	Het
Lama2	TTTGCGCATT	TTT	10: 26,919,639 (GRCm39)		probably null	Het
Lrrc66	A	G	5: 73,765,910 (GRCm39)	F378L	probably benign	Het
Map10	T	A	8: 126,397,431 (GRCm39)	Y275N	probably damaging	Het
Mpp3	A	G	11: 101,915,962 (GRCm39)	Y55H	probably benign	Het
Nectin4	T	C	1: 171,212,383 (GRCm39)	V327A	possibly damaging	Het
Nlrp12	T	A	7: 3,289,072 (GRCm39)	D480V	probably damaging	Het
Nolc1	GAGCAGCAGCAGCAGCAGCAGCAGCAGC	GAGCAGCAGCAGCAGCAGCAGCAGC	19: 46,071,594 (GRCm39)		probably benign	Het
Notch2	A	T	3: 98,009,735 (GRCm39)	Y554F	probably damaging	Het
Nrsn2	T	C	2: 152,211,531 (GRCm39)	K167E	probably benign	Het
Olr1	T	A	6: 129,470,559 (GRCm39)	K203*	probably null	Het
Or14j8	A	T	17: 38,262,962 (GRCm39)	S318T	probably benign	Het
Or2ag13	T	A	7: 106,473,177 (GRCm39)	I92F	probably damaging	Het
Or5b117	T	C	19: 13,431,885 (GRCm39)		probably null	Het
Or8b3	A	T	9: 38,314,764 (GRCm39)	N195I	probably damaging	Het
Or9i2	T	A	19: 13,815,643 (GRCm39)	E298V	probably damaging	Het
Osbpl9	T	C	4: 108,925,564 (GRCm39)	N485S	probably benign	Het
Pbk	T	A	14: 66,052,650 (GRCm39)	H164Q	probably damaging	Het
Pfn2	G	T	3: 57,754,874 (GRCm39)	N10K	probably damaging	Het
Pik3ca	A	G	3: 32,491,312 (GRCm39)	D133G	probably damaging	Het
Pramel27	G	T	4: 143,579,873 (GRCm39)	R486L	probably benign	Het
Prl6a1	A	T	13: 27,502,983 (GRCm39)	D193V	probably damaging	Het
Rad21	G	T	15: 51,831,896 (GRCm39)	P395Q	probably damaging	Het
Reps1	T	A	10: 17,999,373 (GRCm39)	I720N	probably damaging	Het
Rpn2	T	C	2: 157,159,964 (GRCm39)		probably null	Het
Rreb1	G	A	13: 38,115,034 (GRCm39)	V798M	possibly damaging	Het
Sardh	C	T	2: 27,134,489 (GRCm39)	R9H	probably benign	Het
Scgb3a2	C	T	18: 43,899,819 (GRCm39)	P36S	probably damaging	Het
Scn10a	C	A	9: 119,523,375 (GRCm39)	G6V	possibly damaging	Het
Scn10a	C	T	9: 119,523,376 (GRCm39)	G6R	possibly damaging	Het
Scn3a	T	C	2: 65,291,376 (GRCm39)	D1790G	probably damaging	Het
Sec24b	A	T	3: 129,777,619 (GRCm39)	H1226Q	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc12a3	G	A	8: 95,078,438 (GRCm39)		probably null	Het
Slitrk6	T	C	14: 110,989,315 (GRCm39)	T131A	probably damaging	Het
Spata1	C	G	3: 146,175,529 (GRCm39)	D326H	probably damaging	Het
Tex52	A	T	6: 128,361,951 (GRCm39)		probably null	Het
Tma16	A	C	8: 66,934,129 (GRCm39)	C75W	probably damaging	Het
Tmem67	G	A	4: 12,089,416 (GRCm39)		probably benign	Het
Trgv4	T	C	13: 19,369,236 (GRCm39)	V29A	probably benign	Het
Trmt10a	A	T	3: 137,854,146 (GRCm39)	K75*	probably null	Het
Ttc3	T	C	16: 94,191,142 (GRCm39)	V228A	probably benign	Het
Ttn	T	C	2: 76,561,644 (GRCm39)	D28954G	probably damaging	Het
Uggt2	A	G	14: 119,273,376 (GRCm39)		probably null	Het
Vars1	T	A	17: 35,234,702 (GRCm39)	V1177E	probably benign	Het
Vmn1r59	T	C	7: 5,457,532 (GRCm39)	D76G	possibly damaging	Het
Vmn2r114	G	T	17: 23,527,008 (GRCm39)	A508E	probably benign	Het
Vps41	G	A	13: 19,013,425 (GRCm39)	V348M	probably damaging	Het
Zbtb43	T	C	2: 33,343,944 (GRCm39)	H427R	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
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
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'- TAAGTGGGCTTGACAGGAAATC -3'
(R):5'- TCATAGGCACTCACATGGCC -3'

Sequencing Primer
(F):5'- GGCTTGACAGGAAATCCAGCC -3'
(R):5'- GCACTCACATGGCCTAAGCTAG -3'

Posted On

2016-03-01