Mutagenetix > Incidental Mutation

Incidental Mutation 'R9227:Gfpt1'

699924

Institutional Source

Beutler Lab

Gene Symbol

Gfpt1

Ensembl Gene

ENSMUSG00000029992

Gene Name

glutamine fructose-6-phosphate transaminase 1

Synonyms

2810423A18Rik, GFAT1, GFA, GFAT

MMRRC Submission

068984-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9227 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87019828-87069179 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87027906 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 4 (I4K)

Ref Sequence

ENSEMBL: ENSMUSP00000032057 (fasta)

Gene Model

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

AlphaFold

P47856

Predicted Effect

probably damaging
Transcript: ENSMUST00000032057
AA Change: I4K

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

SMART Domains

Protein: ENSMUSP00000032057
Gene: ENSMUSG00000029992
AA Change: I4K

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: I4K

SMART Domains

Protein: ENSMUSP00000109285
Gene: ENSMUSG00000029992
AA Change: I4K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000113657
AA Change: I4K

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

SMART Domains

Protein: ENSMUSP00000109287
Gene: ENSMUSG00000029992
AA Change: I4K

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 damaging
Transcript: ENSMUST00000113658
AA Change: I4K

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

SMART Domains

Protein: ENSMUSP00000109288
Gene: ENSMUSG00000029992
AA Change: I4K

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

Meta Mutation Damage Score

0.9489

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (79/79)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	A	T	10: 77,157,626 (GRCm39)	F274I	probably damaging	Het
Adprhl1	C	T	8: 13,271,974 (GRCm39)	V1595I	probably benign	Het
Anxa6	A	G	11: 54,898,694 (GRCm39)	V160A	probably benign	Het
Appl1	T	C	14: 26,645,692 (GRCm39)	E706G	unknown	Het
Arhgap21	T	C	2: 20,860,469 (GRCm39)	T1313A	possibly damaging	Het
Armc2	T	C	10: 41,823,935 (GRCm39)	Y511C	probably damaging	Het
Atp1a1	A	T	3: 101,499,750 (GRCm39)	C111S	probably damaging	Het
Atp6v0d2	T	A	4: 19,878,374 (GRCm39)	M300L	probably benign	Het
C1ra	T	C	6: 124,493,739 (GRCm39)	C164R	probably damaging	Het
Cacna1h	T	C	17: 25,599,856 (GRCm39)	Y1659C	probably damaging	Het
Catsperb	T	C	12: 101,516,053 (GRCm39)	I563T	probably benign	Het
Cblif	G	A	19: 11,737,748 (GRCm39)	W386*	probably null	Het
Cd180	TA	TAA	13: 102,841,514 (GRCm39)		probably null	Het
Cd55b	A	T	1: 130,350,619 (GRCm39)	L26*	probably null	Het
Cdc42bpa	A	G	1: 179,933,638 (GRCm39)	N759S	probably benign	Het
Cenpj	C	T	14: 56,802,176 (GRCm39)	E130K	possibly damaging	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Chd7	C	T	4: 8,805,272 (GRCm39)	S777L	probably benign	Het
Chrm3	C	A	13: 9,928,479 (GRCm39)	V186L	probably benign	Het
Clrn2	A	G	5: 45,621,283 (GRCm39)	T226A	probably damaging	Het
Col3a1	C	T	1: 45,383,138 (GRCm39)	P1071S	unknown	Het
Dytn	A	T	1: 63,686,611 (GRCm39)	V353D	probably benign	Het
Egfem1	G	A	3: 29,411,317 (GRCm39)	E155K	probably benign	Het
Eif3m	A	T	2: 104,831,705 (GRCm39)	M285K	probably damaging	Het
Fam135b	T	C	15: 71,335,856 (GRCm39)	K446R	probably benign	Het
Fam186a	T	C	15: 99,853,384 (GRCm39)	T119A	unknown	Het
Frmd4a	T	C	2: 4,612,844 (GRCm39)	S1025P	possibly damaging	Het
Fubp3	A	G	2: 31,502,564 (GRCm39)	H449R	probably benign	Het
Fyco1	A	T	9: 123,648,211 (GRCm39)	I1241N	probably damaging	Het
Gabpb2	A	T	3: 95,111,998 (GRCm39)	M77K	probably damaging	Het
Glis1	T	C	4: 107,425,327 (GRCm39)	S313P	probably benign	Het
Golga4	T	A	9: 118,385,941 (GRCm39)	M1021K	possibly damaging	Het
Grid2ip	G	A	5: 143,359,194 (GRCm39)	R270Q	probably damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Ifit1	A	G	19: 34,625,236 (GRCm39)	E124G	possibly damaging	Het
Ifna14	T	C	4: 88,489,752 (GRCm39)	D95G	probably benign	Het
Ilkap	A	C	1: 91,314,937 (GRCm39)	I142S	probably benign	Het
Inpp5e	C	T	2: 26,288,616 (GRCm39)	R588H	probably damaging	Het
Kif1b	A	C	4: 149,322,357 (GRCm39)	M854R	probably damaging	Het
Lcn6	A	T	2: 25,570,107 (GRCm39)	K91M	probably damaging	Het
Lpin1	A	T	12: 16,588,483 (GRCm39)	S902R	unknown	Het
Lrig1	C	A	6: 94,607,113 (GRCm39)	C160F	probably damaging	Het
Mapk13	T	C	17: 28,994,532 (GRCm39)	I141T	probably damaging	Het
Mapkapk3	A	G	9: 107,137,354 (GRCm39)	L175P	probably damaging	Het
Micall2	A	G	5: 139,701,827 (GRCm39)	V472A	unknown	Het
Mmp15	T	C	8: 96,092,959 (GRCm39)	F113L	probably benign	Het
Msh2	T	G	17: 88,026,717 (GRCm39)	S738A	probably benign	Het
Myb	C	T	10: 21,030,612 (GRCm39)	D62N	probably benign	Het
Myo1f	T	C	17: 33,795,424 (GRCm39)	V53A	probably damaging	Het
Ncf1	A	T	5: 134,250,718 (GRCm39)	N367K	probably benign	Het
Nim1k	C	A	13: 120,174,118 (GRCm39)	V259F	probably damaging	Het
Nme8	T	G	13: 19,874,384 (GRCm39)	I139L	probably benign	Het
Odam	T	C	5: 88,034,457 (GRCm39)	F46L	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or7a42	G	A	10: 78,791,929 (GRCm39)	D297N	possibly damaging	Het
Pcare	A	G	17: 72,057,217 (GRCm39)	L820P	probably damaging	Het
Pcdha9	A	G	18: 37,131,954 (GRCm39)	E341G	probably damaging	Het
Pmepa1	T	C	2: 173,117,962 (GRCm39)	T6A	probably benign	Het
Poglut1	A	T	16: 38,355,168 (GRCm39)	D219E	possibly damaging	Het
Racgap1	A	G	15: 99,534,078 (GRCm39)	S145P	possibly damaging	Het
Rasgef1a	C	T	6: 118,066,110 (GRCm39)	T441I	possibly damaging	Het
Rbm6	T	C	9: 107,664,498 (GRCm39)	T844A	probably benign	Het
Rbmyf9	T	G	Y: 3,774,819 (GRCm39)	D5E	probably damaging	Het
Rell1	T	C	5: 64,097,105 (GRCm39)		probably benign	Het
Ripk3	A	G	14: 56,023,303 (GRCm39)	F134S	probably benign	Het
Rnf169	T	C	7: 99,574,699 (GRCm39)	D632G	possibly damaging	Het
Sclt1	A	T	3: 41,665,631 (GRCm39)	W146R	probably benign	Het
Setd5	T	C	6: 113,098,755 (GRCm39)	F796S	possibly damaging	Het
Slc24a5	G	T	2: 124,922,568 (GRCm39)	G110V	probably damaging	Het
Slc30a10	T	A	1: 185,187,391 (GRCm39)	M44K	probably damaging	Het
Slc38a10	T	A	11: 119,996,781 (GRCm39)	D772V	probably benign	Het
Thy1	C	T	9: 43,958,004 (GRCm39)	T44I	probably damaging	Het
Tinagl1	G	T	4: 130,061,271 (GRCm39)	S324Y	probably benign	Het
Tll2	T	A	19: 41,093,436 (GRCm39)	Y477F	probably benign	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tmco6	T	C	18: 36,874,719 (GRCm39)	L402P	probably damaging	Het
Tnrc18	G	T	5: 142,773,392 (GRCm39)	A479D		Het
Uba7	T	C	9: 107,853,001 (GRCm39)	V12A	possibly damaging	Het
Usp5	T	C	6: 124,795,599 (GRCm39)	D598G	probably damaging	Het
Vmn1r158	C	T	7: 22,489,469 (GRCm39)	V247I	probably benign	Het
Vpreb1b	A	G	16: 17,798,801 (GRCm39)	N96D	probably damaging	Het
Zcchc17	A	T	4: 130,230,928 (GRCm39)	M87K	probably damaging	Het

Other mutations in Gfpt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00857:Gfpt1	APN	6	87,033,145 (GRCm39)	missense	probably damaging	1.00
IGL00946:Gfpt1	APN	6	87,027,924 (GRCm39)	missense	probably damaging	1.00
IGL01083:Gfpt1	APN	6	87,031,678 (GRCm39)	missense	probably damaging	1.00
IGL01930:Gfpt1	APN	6	87,036,397 (GRCm39)	missense	possibly damaging	0.88
IGL02113:Gfpt1	APN	6	87,064,349 (GRCm39)	missense	probably benign	0.04
IGL02724:Gfpt1	APN	6	87,033,164 (GRCm39)	nonsense	probably null
IGL03024:Gfpt1	APN	6	87,030,813 (GRCm39)	missense	probably damaging	1.00
Fatal_flaw	UTSW	6	87,030,847 (GRCm39)	splice site	probably benign
vanity	UTSW	6	87,030,787 (GRCm39)	missense	probably benign	0.10
R0829:Gfpt1	UTSW	6	87,030,847 (GRCm39)	splice site	probably benign
R1779:Gfpt1	UTSW	6	87,054,179 (GRCm39)	missense	possibly damaging	0.74
R1982:Gfpt1	UTSW	6	87,031,612 (GRCm39)	missense	possibly damaging	0.90
R2067:Gfpt1	UTSW	6	87,034,736 (GRCm39)	missense	probably benign	0.02
R2400:Gfpt1	UTSW	6	87,064,330 (GRCm39)	missense	probably damaging	1.00
R2438:Gfpt1	UTSW	6	87,034,727 (GRCm39)	missense	probably null	1.00
R3104:Gfpt1	UTSW	6	87,034,628 (GRCm39)	missense	probably benign	0.16
R3105:Gfpt1	UTSW	6	87,034,628 (GRCm39)	missense	probably benign	0.16
R4738:Gfpt1	UTSW	6	87,031,729 (GRCm39)	intron	probably benign
R5070:Gfpt1	UTSW	6	87,030,727 (GRCm39)	splice site	probably null
R5292:Gfpt1	UTSW	6	87,053,237 (GRCm39)	critical splice acceptor site	probably null
R5392:Gfpt1	UTSW	6	87,054,139 (GRCm39)	missense	probably damaging	0.99
R5481:Gfpt1	UTSW	6	87,027,951 (GRCm39)	missense	probably damaging	1.00
R5646:Gfpt1	UTSW	6	87,019,981 (GRCm39)	start codon destroyed	probably null	0.92
R5666:Gfpt1	UTSW	6	87,030,795 (GRCm39)	missense	possibly damaging	0.94
R6003:Gfpt1	UTSW	6	87,065,230 (GRCm39)	splice site	probably null
R6031:Gfpt1	UTSW	6	87,063,302 (GRCm39)	missense	probably damaging	1.00
R6031:Gfpt1	UTSW	6	87,063,302 (GRCm39)	missense	probably damaging	1.00
R6045:Gfpt1	UTSW	6	87,062,239 (GRCm39)	missense	probably damaging	1.00
R6341:Gfpt1	UTSW	6	87,065,127 (GRCm39)	missense	probably damaging	1.00
R6980:Gfpt1	UTSW	6	87,054,071 (GRCm39)	missense	probably damaging	1.00
R7120:Gfpt1	UTSW	6	87,064,375 (GRCm39)	missense	probably benign	0.25
R7123:Gfpt1	UTSW	6	87,033,168 (GRCm39)	missense	probably damaging	1.00
R7249:Gfpt1	UTSW	6	87,033,126 (GRCm39)	missense	probably damaging	0.98
R7374:Gfpt1	UTSW	6	87,027,959 (GRCm39)	missense	probably benign	0.00
R7501:Gfpt1	UTSW	6	87,059,508 (GRCm39)	missense	probably benign
R7502:Gfpt1	UTSW	6	87,043,671 (GRCm39)	missense	probably benign	0.00
R8244:Gfpt1	UTSW	6	87,040,613 (GRCm39)	intron	probably benign
R8528:Gfpt1	UTSW	6	87,043,770 (GRCm39)	critical splice donor site	probably null
R8864:Gfpt1	UTSW	6	87,031,605 (GRCm39)	missense	probably benign	0.01
R8910:Gfpt1	UTSW	6	87,030,787 (GRCm39)	missense	probably benign	0.10
R9123:Gfpt1	UTSW	6	87,053,248 (GRCm39)	missense	probably benign
R9125:Gfpt1	UTSW	6	87,053,248 (GRCm39)	missense	probably benign
R9414:Gfpt1	UTSW	6	87,062,265 (GRCm39)	missense	probably benign
R9554:Gfpt1	UTSW	6	87,062,323 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGATATAGCCCACAAGTTTGC -3'
(R):5'- GACATTCACAAACCCTTTAGACATG -3'

Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- AGACTTGCATTTACAAAACAAAGC -3'

Posted On

2022-02-07