Mutagenetix > Incidental Mutation

Incidental Mutation 'R1974:Gpi1'

266025

Institutional Source

Beutler Lab

Gene Symbol

Gpi1

Ensembl Gene

ENSMUSG00000036427

Gene Name

glucose-6-phosphate isomerase 1

Synonyms

neuroleukin, MF, Gpi1-t, Gpi-1r, Gpi-1, Gpi-1s, NK/GPI, Org, autocrine motility factor, AMF, Gpi-1t, NK, maturation factor, Gpi1-r, Gpi1-s

MMRRC Submission

039987-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1974 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33900755-33929761 bp(-) (GRCm39)

Type of Mutation

splice site (8148 bp from exon)

DNA Base Change (assembly)

A to T at 33920228 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145891 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038027] [ENSMUST00000205983] [ENSMUST00000206415]

AlphaFold

P06745

Predicted Effect

probably benign
Transcript: ENSMUST00000038027

SMART Domains

Protein: ENSMUSP00000049355
Gene: ENSMUSG00000036427

Domain	Start	End	E-Value	Type
Pfam:PGI	54	546	1e-265	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180864

Predicted Effect

probably null
Transcript: ENSMUST00000205800

Predicted Effect

probably benign
Transcript: ENSMUST00000205983

Predicted Effect

probably null
Transcript: ENSMUST00000206415

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206603

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the glucose phosphate isomerase protein family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In the cytoplasm, the gene product functions as a glycolytic enzyme (glucose-6-phosphate isomerase) that interconverts glucose-6-phosphate and fructose-6-phosphate. Extracellularly, the encoded protein (also referred to as neuroleukin) functions as a neurotrophic factor that promotes survival of skeletal motor neurons and sensory neurons, and as a lymphokine that induces immunoglobulin secretion. The encoded protein is also referred to as autocrine motility factor based on an additional function as a tumor-secreted cytokine and angiogenic factor. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygotes for null mutations fail to develop beyond the egg cylinder stage and die by embryonic day 9.5. Homozygotes for a hypomorphic mutation exhibit nonspherocytic hemolytic anemia with hepatosplenomegaly. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 137,773,028 (GRCm39)	L739Q	probably damaging	Het
4933436I01Rik	A	T	X: 66,963,655 (GRCm39)	Y401*	probably null	Het
Abcg3	A	G	5: 105,111,504 (GRCm39)	V321A	probably benign	Het
Acad10	C	A	5: 121,764,248 (GRCm39)	V894L	possibly damaging	Het
Adam9	A	G	8: 25,482,240 (GRCm39)	I255T	probably damaging	Het
Ago3	T	C	4: 126,240,544 (GRCm39)	Y785C	probably damaging	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Akap4	A	G	X: 6,943,595 (GRCm39)	S633G	probably benign	Het
Alox15	T	A	11: 70,240,799 (GRCm39)	T194S	probably benign	Het
Amh	T	C	10: 80,642,250 (GRCm39)	S207P	probably benign	Het
Apc	T	A	18: 34,433,057 (GRCm39)	C415S	possibly damaging	Het
Atg14	G	A	14: 47,783,298 (GRCm39)	R346C	probably damaging	Het
Atp5mf	A	T	5: 145,121,389 (GRCm39)	L64Q	probably damaging	Het
Barhl2	C	G	5: 106,605,179 (GRCm39)	E177Q	probably benign	Het
C1qtnf5	T	C	9: 44,020,072 (GRCm39)	V232A	probably damaging	Het
Calr	T	C	8: 85,570,786 (GRCm39)	I290V	probably benign	Het
Cdh19	G	C	1: 110,817,889 (GRCm39)	Q618E	possibly damaging	Het
Celsr2	G	T	3: 108,321,530 (GRCm39)	D427E	probably damaging	Het
Cep250	T	C	2: 155,831,424 (GRCm39)	S1294P	probably damaging	Het
Chrna7	T	A	7: 62,749,034 (GRCm39)	T483S	probably damaging	Het
Clmn	A	T	12: 104,758,121 (GRCm39)	W132R	probably damaging	Het
Cpsf2	G	A	12: 101,956,306 (GRCm39)	D370N	probably benign	Het
Crnn	T	C	3: 93,056,594 (GRCm39)	V460A	probably benign	Het
Daam1	T	A	12: 72,035,703 (GRCm39)	I957N	probably damaging	Het
Defb9	T	C	8: 22,371,905 (GRCm39)	K36R	probably benign	Het
Dock10	T	A	1: 80,488,143 (GRCm39)	I2007F	possibly damaging	Het
Dpm1	A	T	2: 168,059,667 (GRCm39)	V143D	probably damaging	Het
Dync1h1	T	C	12: 110,592,166 (GRCm39)	V1110A	possibly damaging	Het
Erlec1	T	G	11: 30,889,604 (GRCm39)	K373N	possibly damaging	Het
Fbxo40	C	T	16: 36,790,303 (GRCm39)	G269E	probably benign	Het
Fbxw7	T	A	3: 84,862,242 (GRCm39)	C70S	possibly damaging	Het
Fhip2a	T	C	19: 57,373,809 (GRCm39)	F690L	probably damaging	Het
Fnbp1	G	T	2: 30,943,059 (GRCm39)	R280S	probably null	Het
Gapvd1	G	A	2: 34,590,853 (GRCm39)	R940C	probably damaging	Het
Gfod2	T	C	8: 106,444,142 (GRCm39)	K134E	possibly damaging	Het
Grik2	A	T	10: 49,008,923 (GRCm39)	N721K	possibly damaging	Het
Gsn	G	T	2: 35,191,483 (GRCm39)	G455V	probably damaging	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Hpse	A	G	5: 100,840,104 (GRCm39)	S338P	probably damaging	Het
Hyal2	T	C	9: 107,449,371 (GRCm39)	C376R	probably damaging	Het
Inf2	A	G	12: 112,574,771 (GRCm39)	T781A	unknown	Het
Iscu	A	G	5: 113,915,079 (GRCm39)		probably benign	Het
Kcna4	G	A	2: 107,126,565 (GRCm39)	G433D	possibly damaging	Het
Kir3dl2	T	A	X: 135,357,024 (GRCm39)	N146I	probably benign	Het
Klrg1	T	A	6: 122,259,721 (GRCm39)	Q17L	possibly damaging	Het
Krt82	T	G	15: 101,453,597 (GRCm39)	Q263P	probably benign	Het
Mfrp	T	C	9: 44,017,669 (GRCm39)	C554R	probably damaging	Het
Minar1	T	G	9: 89,483,256 (GRCm39)	T714P	probably damaging	Het
Mst1r	T	C	9: 107,791,962 (GRCm39)	Y833H	probably damaging	Het
Mst1r	T	A	9: 107,793,132 (GRCm39)		probably null	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Nipal4	T	C	11: 46,042,210 (GRCm39)	N157S	probably damaging	Het
Notch2	G	A	3: 97,980,071 (GRCm39)	G195D	probably damaging	Het
Nrcam	A	T	12: 44,610,776 (GRCm39)	H492L	probably benign	Het
Or10aa1	A	T	1: 173,870,154 (GRCm39)	I213F	probably damaging	Het
Or4p21	A	T	2: 88,276,853 (GRCm39)	I143N	probably damaging	Het
Papln	G	A	12: 83,828,811 (GRCm39)	R817H	probably damaging	Het
Pcnx2	T	C	8: 126,614,110 (GRCm39)	E447G	probably benign	Het
Pdp2	T	C	8: 105,320,538 (GRCm39)	V129A	probably benign	Het
Plch2	A	G	4: 155,069,410 (GRCm39)	F1072S	possibly damaging	Het
Prag1	T	A	8: 36,570,081 (GRCm39)	D221E	probably damaging	Het
Prkg1	T	C	19: 31,563,095 (GRCm39)	D102G	probably damaging	Het
Psme4	T	A	11: 30,769,011 (GRCm39)	D662E	probably benign	Het
Ptprn	T	C	1: 75,231,464 (GRCm39)		probably null	Het
Ptprz1	A	G	6: 22,986,310 (GRCm39)	D370G	probably damaging	Het
Qser1	A	G	2: 104,590,886 (GRCm39)	S1637P	probably damaging	Het
Sema6a	T	A	18: 47,403,696 (GRCm39)	H642L	probably benign	Het
Slc30a5	A	T	13: 100,950,461 (GRCm39)	F209I	probably benign	Het
Slc4a3	G	T	1: 75,528,835 (GRCm39)	E508*	probably null	Het
Stpg2	C	T	3: 139,014,944 (GRCm39)	R370*	probably null	Het
Tas2r113	T	A	6: 132,870,796 (GRCm39)	F275I	probably benign	Het
Tmem132d	T	G	5: 128,346,263 (GRCm39)	K86N	probably damaging	Het
Tpgs2	A	T	18: 25,273,593 (GRCm39)	F189L	probably damaging	Het
Trmt6	A	G	2: 132,652,968 (GRCm39)	S104P	probably damaging	Het
Trpv3	T	C	11: 73,174,514 (GRCm39)	S294P	probably damaging	Het
Ugt2b36	A	G	5: 87,228,727 (GRCm39)		probably null	Het
Vmn1r170	A	T	7: 23,305,906 (GRCm39)	M103L	probably benign	Het
Vmn2r107	T	A	17: 20,575,879 (GRCm39)		probably null	Het
Vmn2r5	C	T	3: 64,411,642 (GRCm39)	E309K	probably damaging	Het
Vmn2r77	T	C	7: 86,449,964 (GRCm39)	V70A	probably benign	Het

Other mutations in Gpi1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00662:Gpi1	APN	7	33,915,375 (GRCm39)	intron	probably benign
IGL01911:Gpi1	APN	7	33,920,347 (GRCm39)	missense	probably damaging	1.00
IGL02155:Gpi1	APN	7	33,929,614 (GRCm39)	missense	possibly damaging	0.94
R0019:Gpi1	UTSW	7	33,920,324 (GRCm39)	missense	probably damaging	0.99
R1413:Gpi1	UTSW	7	33,929,580 (GRCm39)	missense	probably benign	0.22
R2132:Gpi1	UTSW	7	33,905,339 (GRCm39)	missense	probably damaging	1.00
R2254:Gpi1	UTSW	7	33,902,302 (GRCm39)	missense	probably damaging	1.00
R2255:Gpi1	UTSW	7	33,902,302 (GRCm39)	missense	probably damaging	1.00
R2435:Gpi1	UTSW	7	33,905,254 (GRCm39)	missense	probably damaging	1.00
R2509:Gpi1	UTSW	7	33,905,348 (GRCm39)	missense	probably damaging	1.00
R2510:Gpi1	UTSW	7	33,905,348 (GRCm39)	missense	probably damaging	1.00
R3408:Gpi1	UTSW	7	33,902,104 (GRCm39)	missense	probably damaging	0.99
R5059:Gpi1	UTSW	7	33,907,113 (GRCm39)	missense	probably damaging	1.00
R5141:Gpi1	UTSW	7	33,926,521 (GRCm39)	intron	probably benign
R5272:Gpi1	UTSW	7	33,920,115 (GRCm39)	missense	probably damaging	1.00
R5980:Gpi1	UTSW	7	33,928,351 (GRCm39)	critical splice donor site	probably null
R6261:Gpi1	UTSW	7	33,920,170 (GRCm39)	missense	possibly damaging	0.93
R6788:Gpi1	UTSW	7	33,928,415 (GRCm39)	missense	probably damaging	1.00
R6835:Gpi1	UTSW	7	33,926,563 (GRCm39)	missense	possibly damaging	0.89
R6989:Gpi1	UTSW	7	33,901,945 (GRCm39)	missense	probably damaging	1.00
R8008:Gpi1	UTSW	7	33,917,726 (GRCm39)	missense	probably damaging	1.00
R8374:Gpi1	UTSW	7	33,920,082 (GRCm39)	missense	probably benign	0.35
R8485:Gpi1	UTSW	7	33,918,677 (GRCm39)	splice site	probably null
R9121:Gpi1	UTSW	7	33,907,114 (GRCm39)	missense	probably damaging	1.00
R9647:Gpi1	UTSW	7	33,901,879 (GRCm39)	missense	probably damaging	1.00
RF012:Gpi1	UTSW	7	33,901,902 (GRCm39)	missense	probably damaging	1.00
Z1177:Gpi1	UTSW	7	33,905,070 (GRCm39)	critical splice acceptor site	probably null
Z1186:Gpi1	UTSW	7	33,926,662 (GRCm39)	missense	probably benign
Z1191:Gpi1	UTSW	7	33,926,662 (GRCm39)	missense	probably benign

Predicted Primers

Posted On

2015-02-05