Mutagenetix > Incidental Mutation

Incidental Mutation 'R8864:Gfpt1'

675808

Institutional Source

Beutler Lab

Gene Symbol

Gfpt1

Ensembl Gene

ENSMUSG00000029992

Gene Name

glutamine fructose-6-phosphate transaminase 1

Synonyms

GFA, 2810423A18Rik, GFAT, GFAT1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8864 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87042846-87092197 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87054623 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 82 (D82E)

Ref Sequence

ENSEMBL: ENSMUSP00000032057 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032057] [ENSMUST00000113655] [ENSMUST00000113657] [ENSMUST00000113658]

AlphaFold

P47856

Predicted Effect

probably benign
Transcript: ENSMUST00000032057
AA Change: D82E

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000032057
Gene: ENSMUSG00000029992
AA Change: D82E

Domain	Start	End	E-Value	Type
low complexity region	56	67	N/A	INTRINSIC
Pfam:GATase_6	69	213	1e-18	PFAM
Pfam:GATase_4	78	198	2.7e-7	PFAM
Pfam:GATase_7	93	195	2.1e-14	PFAM
Pfam:SIS	378	507	4.5e-38	PFAM
Pfam:SIS	549	680	1.6e-33	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000113655
AA Change: I102K

SMART Domains

Protein: ENSMUSP00000109285
Gene: ENSMUSG00000029992
AA Change: I102K

Domain	Start	End	E-Value	Type
Pfam:GATase_2	2	65	7.8e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113657
AA Change: D82E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000109287
Gene: ENSMUSG00000029992
AA Change: D82E

Domain	Start	End	E-Value	Type
Pfam:GATase_2	2	80	1.7e-10	PFAM
Pfam:GATase_2	76	120	9.5e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113658
AA Change: D82E

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000109288
Gene: ENSMUSG00000029992
AA Change: D82E

Domain	Start	End	E-Value	Type
Pfam:GATase_2	2	78	9e-9	PFAM
Pfam:GATase_4	63	191	3.2e-10	PFAM
Pfam:GATase_6	68	211	3.7e-20	PFAM
Pfam:GATase_2	76	220	6.4e-22	PFAM
Pfam:GATase_7	93	194	1.7e-15	PFAM
Pfam:SIS	362	491	4.5e-36	PFAM
Pfam:SIS	533	664	2.3e-31	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (41/41)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the first and rate-limiting enzyme of the hexosamine pathway and controls the flux of glucose into the hexosamine pathway. The product of this gene catalyzes the formation of glucosamine 6-phosphate. [provided by RefSeq, Sep 2008]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	T	A	18: 58,890,425	C297*	probably null	Het
Adamts3	T	C	5: 89,707,122		probably benign	Het
Best2	T	A	8: 85,009,313	M331L	probably benign	Het
Cachd1	T	A	4: 100,994,829	S1207R	probably damaging	Het
Cacna2d3	G	T	14: 29,333,778	N298K	probably damaging	Het
Cyp2j12	T	C	4: 96,121,513	Y203C	probably damaging	Het
Dnah8	T	C	17: 30,762,642	I3046T	possibly damaging	Het
Eif3b	T	C	5: 140,426,532	V252A	probably benign	Het
Ergic2	A	G	6: 148,181,895	V355A	probably benign	Het
F13a1	C	T	13: 36,877,779	G670D	probably damaging	Het
Ggnbp2	G	A	11: 84,840,076	R376C	probably damaging	Het
Gm30302	T	C	13: 49,787,512	N241D	probably benign	Het
Grn	T	C	11: 102,436,385	F191L	unknown	Het
Ighv1-16	C	T	12: 114,665,999	G56D	probably benign	Het
Jrkl	T	C	9: 13,244,321	D445G	probably benign	Het
Loxl3	A	G	6: 83,035,758	T93A	probably damaging	Het
Lrp1b	C	T	2: 41,112,706	A2094T		Het
Lrriq3	T	A	3: 155,187,938	D425E	probably damaging	Het
Majin	T	C	19: 6,211,620	V55A	possibly damaging	Het
Mapk8ip3	A	T	17: 24,899,518	V1192E	probably damaging	Het
Mdga1	T	C	17: 29,931,321	S106G	unknown	Het
Mtch2	C	T	2: 90,854,930	R135*	probably null	Het
Naip1	T	C	13: 100,426,320	N779S	possibly damaging	Het
Nfia	T	C	4: 98,063,145	V403A	possibly damaging	Het
Npas4	C	A	19: 4,988,528	D121Y	probably damaging	Het
Rab3gap1	C	T	1: 127,909,893	R231W	probably damaging	Het
Rangap1	C	G	15: 81,726,069		probably benign	Het
Rgs5	T	A	1: 169,690,421	F75I	probably benign	Het
Rnf19a	T	C	15: 36,265,306	D215G	possibly damaging	Het
Rwdd4a	A	T	8: 47,547,841		probably benign	Het
Setd5	G	A	6: 113,111,508	R199H	probably damaging	Het
Spef2	T	C	15: 9,599,747	Q2004R	unknown	Het
Syne1	T	C	10: 5,420,473	K236E	probably benign	Het
Tas2r104	A	G	6: 131,685,669	F26L	possibly damaging	Het
Tbc1d32	T	A	10: 56,087,559	E954D	probably benign	Het
Tenm2	A	C	11: 36,027,195	S1914A	possibly damaging	Het
Tln2	G	T	9: 67,330,552	Y32*	probably null	Het
Tnc	C	T	4: 63,993,059	R1425H	probably damaging	Het
Unc13b	T	C	4: 43,174,724	C1851R	unknown	Het
Wapl	T	A	14: 34,692,202	D340E	probably benign	Het
Zfp74	T	C	7: 29,934,810	E491G	probably damaging	Het

Other mutations in Gfpt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00857:Gfpt1	APN	6	87056163	missense	probably damaging	1.00
IGL00946:Gfpt1	APN	6	87050942	missense	probably damaging	1.00
IGL01083:Gfpt1	APN	6	87054696	missense	probably damaging	1.00
IGL01930:Gfpt1	APN	6	87059415	missense	possibly damaging	0.88
IGL02113:Gfpt1	APN	6	87087367	missense	probably benign	0.04
IGL02724:Gfpt1	APN	6	87056182	nonsense	probably null
IGL03024:Gfpt1	APN	6	87053831	missense	probably damaging	1.00
Fatal_flaw	UTSW	6	87053865	splice site	probably benign
vanity	UTSW	6	87053805	missense	probably benign	0.10
R0829:Gfpt1	UTSW	6	87053865	splice site	probably benign
R1779:Gfpt1	UTSW	6	87077197	missense	possibly damaging	0.74
R1982:Gfpt1	UTSW	6	87054630	missense	possibly damaging	0.90
R2067:Gfpt1	UTSW	6	87057754	missense	probably benign	0.02
R2400:Gfpt1	UTSW	6	87087348	missense	probably damaging	1.00
R2438:Gfpt1	UTSW	6	87057745	missense	probably null	1.00
R3104:Gfpt1	UTSW	6	87057646	missense	probably benign	0.16
R3105:Gfpt1	UTSW	6	87057646	missense	probably benign	0.16
R4738:Gfpt1	UTSW	6	87054747	intron	probably benign
R5070:Gfpt1	UTSW	6	87053745	splice site	probably null
R5292:Gfpt1	UTSW	6	87076255	critical splice acceptor site	probably null
R5392:Gfpt1	UTSW	6	87077157	missense	probably damaging	0.99
R5481:Gfpt1	UTSW	6	87050969	missense	probably damaging	1.00
R5646:Gfpt1	UTSW	6	87042999	start codon destroyed	probably null	0.92
R5666:Gfpt1	UTSW	6	87053813	missense	possibly damaging	0.94
R6003:Gfpt1	UTSW	6	87088248	splice site	probably null
R6031:Gfpt1	UTSW	6	87086320	missense	probably damaging	1.00
R6031:Gfpt1	UTSW	6	87086320	missense	probably damaging	1.00
R6045:Gfpt1	UTSW	6	87085257	missense	probably damaging	1.00
R6341:Gfpt1	UTSW	6	87088145	missense	probably damaging	1.00
R6980:Gfpt1	UTSW	6	87077089	missense	probably damaging	1.00
R7120:Gfpt1	UTSW	6	87087393	missense	probably benign	0.25
R7123:Gfpt1	UTSW	6	87056186	missense	probably damaging	1.00
R7249:Gfpt1	UTSW	6	87056144	missense	probably damaging	0.98
R7374:Gfpt1	UTSW	6	87050977	missense	probably benign	0.00
R7501:Gfpt1	UTSW	6	87082526	missense	probably benign
R7502:Gfpt1	UTSW	6	87066689	missense	probably benign	0.00
R8244:Gfpt1	UTSW	6	87063631	intron	probably benign
R8528:Gfpt1	UTSW	6	87066788	critical splice donor site	probably null
R8910:Gfpt1	UTSW	6	87053805	missense	probably benign	0.10
R9123:Gfpt1	UTSW	6	87076266	missense	probably benign
R9125:Gfpt1	UTSW	6	87076266	missense	probably benign
R9227:Gfpt1	UTSW	6	87050924	missense	probably damaging	1.00
R9414:Gfpt1	UTSW	6	87085283	missense	probably benign
R9554:Gfpt1	UTSW	6	87085341	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTCAGTGCCATTGGAGTTTC -3'
(R):5'- ATGGGATTAAGTTCTGTACACTGTCTG -3'

Sequencing Primer
(F):5'- TCAGGTGTCCACGGAGTATC -3'
(R):5'- GTAACAACATAAGCACCTGGATTC -3'

Posted On

2021-07-15