Mutagenetix > Incidental Mutation

Incidental Mutation 'R6989:Gpi1'

543143

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

045095-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6989 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33900755-33929761 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33901945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 156 (K156R)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038027] [ENSMUST00000205870] [ENSMUST00000205983] [ENSMUST00000206415]

AlphaFold

P06745

Predicted Effect

probably benign
Transcript: ENSMUST00000038027
AA Change: K524R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000049355
Gene: ENSMUSG00000036427
AA Change: K524R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000205800
AA Change: K156R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000205865

Predicted Effect

probably benign
Transcript: ENSMUST00000205870

Predicted Effect

probably benign
Transcript: ENSMUST00000205983

Predicted Effect

probably benign
Transcript: ENSMUST00000206415

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.4%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921536K21Rik	C	T	11: 3,840,076 (GRCm39)	R107H	probably damaging	Het
4930438A08Rik	T	C	11: 58,178,228 (GRCm39)	V96A	possibly damaging	Het
Abcc2	A	G	19: 43,820,611 (GRCm39)	D1370G	probably damaging	Het
Abcc9	T	A	6: 142,634,707 (GRCm39)	N186Y	probably damaging	Het
Adcy7	T	C	8: 89,035,414 (GRCm39)	V106A	probably benign	Het
Adgra3	A	G	5: 50,164,226 (GRCm39)	F251S	probably damaging	Het
Akr1c6	T	A	13: 4,499,045 (GRCm39)	I33N	probably damaging	Het
Alk	A	C	17: 72,204,947 (GRCm39)	M1075R	probably benign	Het
Amh	A	G	10: 80,641,338 (GRCm39)	Q86R	probably benign	Het
Aox1	T	C	1: 58,124,611 (GRCm39)	Y951H	probably damaging	Het
Arhgap26	G	T	18: 39,232,682 (GRCm39)	R119L	probably damaging	Het
Arl8a	A	G	1: 135,074,735 (GRCm39)	K7R	probably benign	Het
Birc6	T	G	17: 74,937,984 (GRCm39)	S2638A	probably benign	Het
Ccdc162	T	G	10: 41,457,349 (GRCm39)	Q256H	probably damaging	Het
Cenpe	T	A	3: 134,940,888 (GRCm39)	L679Q	probably damaging	Het
Cpa5	T	A	6: 30,625,891 (GRCm39)	H203Q	probably benign	Het
Cpne9	A	T	6: 113,277,544 (GRCm39)	D421V	possibly damaging	Het
Cux1	A	T	5: 136,308,502 (GRCm39)	C1212*	probably null	Het
Dock9	G	A	14: 121,864,791 (GRCm39)	H736Y	probably damaging	Het
Dpp3	A	T	19: 4,971,195 (GRCm39)	V214E	probably damaging	Het
Dtx3	T	C	10: 127,028,746 (GRCm39)	E161G	probably benign	Het
Ect2	A	T	3: 27,156,637 (GRCm39)	Y774*	probably null	Het
Enpep	G	T	3: 129,074,599 (GRCm39)	P717H	probably damaging	Het
Erich3	A	T	3: 154,469,314 (GRCm39)		probably benign	Het
Fbp2	C	T	13: 63,005,991 (GRCm39)	A41T	probably damaging	Het
Fbxl21	T	C	13: 56,674,874 (GRCm39)	V75A	probably damaging	Het
Fkbp5	C	T	17: 28,634,919 (GRCm39)	D197N	probably benign	Het
Fsip2	A	G	2: 82,807,298 (GRCm39)	T1206A	probably benign	Het
Ggt7	A	G	2: 155,345,380 (GRCm39)	V156A	probably benign	Het
Gpx5	T	C	13: 21,471,669 (GRCm39)	D178G	probably damaging	Het
Grm7	G	A	6: 111,184,766 (GRCm39)	E366K	probably damaging	Het
Haao	T	C	17: 84,139,103 (GRCm39)	Q277R	probably damaging	Het
Lama1	T	C	17: 68,060,753 (GRCm39)	S694P		Het
Lrp10	A	G	14: 54,705,950 (GRCm39)	D380G	probably benign	Het
Lrp2	C	A	2: 69,302,799 (GRCm39)	D2977Y	probably damaging	Het
Map2	T	A	1: 66,454,065 (GRCm39)	M985K	probably benign	Het
Met	C	A	6: 17,535,927 (GRCm39)	N784K	possibly damaging	Het
Met	T	A	6: 17,535,928 (GRCm39)	Y65N	probably damaging	Het
Muc6	T	G	7: 141,226,246 (GRCm39)		probably benign	Het
Numbl	T	A	7: 26,980,265 (GRCm39)	W416R	probably damaging	Het
Nup160	G	A	2: 90,537,364 (GRCm39)	S746N	probably benign	Het
Pcca	G	A	14: 122,887,700 (GRCm39)	G102D	probably damaging	Het
Pira13	T	A	7: 3,825,163 (GRCm39)	Y493F	possibly damaging	Het
Psmc2	T	A	5: 22,006,217 (GRCm39)	F243L	possibly damaging	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rpn1	G	T	6: 88,076,285 (GRCm39)	V357L	probably benign	Het
Rtn3	A	G	19: 7,433,856 (GRCm39)	F712S	possibly damaging	Het
Scgb1b10	T	A	7: 31,800,574 (GRCm39)	D54E	probably benign	Het
Scn5a	A	G	9: 119,315,395 (GRCm39)	I1771T	probably damaging	Het
Sec14l1	A	G	11: 117,047,220 (GRCm39)	I633V	probably damaging	Het
Slc17a6	T	C	7: 51,311,224 (GRCm39)	Y313H	possibly damaging	Het
Slc18a1	G	A	8: 69,491,514 (GRCm39)	T500I	probably benign	Het
Slx4	G	A	16: 3,813,702 (GRCm39)	A93V	probably damaging	Het
Stat4	T	C	1: 52,107,974 (GRCm39)	S148P	probably benign	Het
Tbc1d15	A	T	10: 115,045,474 (GRCm39)	C497S	probably damaging	Het
Ticam1	C	T	17: 56,576,900 (GRCm39)	E732K	probably benign	Het
Trav3-3	C	A	14: 53,903,802 (GRCm39)	P40Q	possibly damaging	Het
Trpv6	A	T	6: 41,602,390 (GRCm39)	L332Q	probably damaging	Het
Ube2t	T	G	1: 134,897,033 (GRCm39)	V55G	probably damaging	Het
Ufm1	T	C	3: 53,765,402 (GRCm39)	K69E	probably damaging	Het
Utp20	T	C	10: 88,614,102 (GRCm39)	D1284G	probably benign	Het
Vil1	C	T	1: 74,463,113 (GRCm39)	T432I	probably damaging	Het
Vps13b	T	A	15: 35,448,727 (GRCm39)	I567K	probably benign	Het
Zfp236	A	T	18: 82,646,488 (GRCm39)	V1023D	probably damaging	Het
Zfp429	A	G	13: 67,538,080 (GRCm39)	Y455H	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
R1974:Gpi1	UTSW	7	33,920,228 (GRCm39)	splice site	probably null
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
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

PCR Primer
(F):5'- TTGTAGTCCAGGCCAACTACC -3'
(R):5'- GCCATGTATGAGCACAAGATC -3'

Sequencing Primer
(F):5'- AGGCCAACTACCGGTGGTG -3'
(R):5'- CAAGATCTTTGTTCAGGGCATC -3'

Posted On

2018-11-28