Mutagenetix > Incidental Mutation

Incidental Mutation 'R6341:Gfpt1'

514382

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

044495-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6341 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87019828-87069179 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87065127 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 694 (V694A)

Ref Sequence

ENSEMBL: ENSMUSP00000032057 (fasta)

Gene Model

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

AlphaFold

P47856

Predicted Effect

probably damaging
Transcript: ENSMUST00000032057
AA Change: V694A

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

SMART Domains

Protein: ENSMUSP00000032057
Gene: ENSMUSG00000029992
AA Change: V694A

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

possibly damaging
Transcript: ENSMUST00000113658
AA Change: V678A

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109288
Gene: ENSMUSG00000029992
AA Change: V678A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146410

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	T	C	16: 30,924,364 (GRCm39)	D658G	possibly damaging	Het
Amz2	A	G	11: 109,319,653 (GRCm39)	H13R	probably benign	Het
Ankrd27	G	T	7: 35,326,828 (GRCm39)		probably null	Het
Atp8a1	T	C	5: 67,840,270 (GRCm39)	T704A	possibly damaging	Het
Cabin1	A	T	10: 75,494,573 (GRCm39)	M1602K	probably damaging	Het
Ccdc74a	T	C	16: 17,465,978 (GRCm39)	S105P	probably damaging	Het
Cdh26	T	A	2: 178,113,366 (GRCm39)		probably null	Het
Cxcl10	T	C	5: 92,496,072 (GRCm39)	I22V	probably benign	Het
Cyp2c68	A	C	19: 39,700,933 (GRCm39)	V295G	possibly damaging	Het
Ddx10	A	T	9: 53,115,551 (GRCm39)	D594E	probably benign	Het
Ddx5	T	C	11: 106,676,368 (GRCm39)		probably null	Het
Duox1	T	C	2: 122,168,202 (GRCm39)	I1109T	probably damaging	Het
Dusp15	T	C	2: 152,788,204 (GRCm39)		probably null	Het
Ecel1	A	G	1: 87,078,193 (GRCm39)		probably null	Het
Efcab6	T	G	15: 83,820,139 (GRCm39)	Q714P	possibly damaging	Het
Erc1	A	G	6: 119,754,959 (GRCm39)	L464P	possibly damaging	Het
Fam234a	T	A	17: 26,432,667 (GRCm39)	H494L	probably damaging	Het
Gli2	T	C	1: 118,763,954 (GRCm39)	D1399G	probably damaging	Het
Gm10110	T	C	14: 90,134,144 (GRCm39)		noncoding transcript	Het
Hdac3	A	G	18: 38,077,217 (GRCm39)	L219P	probably damaging	Het
Hlcs	A	G	16: 94,032,022 (GRCm39)	F52S	probably damaging	Het
Ints7	C	A	1: 191,345,239 (GRCm39)	T643K	probably damaging	Het
Ireb2	A	G	9: 54,816,064 (GRCm39)	I878M	probably damaging	Het
Itga3	A	T	11: 94,946,677 (GRCm39)		probably null	Het
Lrfn5	T	A	12: 61,890,368 (GRCm39)	Y552*	probably null	Het
Mafb	T	C	2: 160,208,371 (GRCm39)	T76A	probably damaging	Het
Man2b1	A	T	8: 85,822,028 (GRCm39)	S748C	probably damaging	Het
Mmp15	G	T	8: 96,092,091 (GRCm39)		probably null	Het
Mmp17	A	T	5: 129,679,019 (GRCm39)	R335W	probably damaging	Het
Muc5ac	A	T	7: 141,355,229 (GRCm39)	D1005V	probably damaging	Het
Myh3	T	C	11: 66,973,822 (GRCm39)	F165S	probably benign	Het
Nacc1	T	C	8: 85,401,420 (GRCm39)	D419G	probably benign	Het
Neb	G	A	2: 52,099,486 (GRCm39)	S4545L	probably damaging	Het
Niban3	C	T	8: 72,052,721 (GRCm39)	P65L	probably damaging	Het
Npas2	T	C	1: 39,339,768 (GRCm39)	I106T	probably damaging	Het
Ogfrl1	T	G	1: 23,408,944 (GRCm39)	K427N	probably benign	Het
Or5b12	T	C	19: 12,896,843 (GRCm39)	T277A	probably benign	Het
Pde4dip	T	A	3: 97,602,227 (GRCm39)	Q2283L	probably benign	Het
Phax	C	T	18: 56,706,173 (GRCm39)	T21M	possibly damaging	Het
Pitpnm1	A	T	19: 4,152,829 (GRCm39)	K79*	probably null	Het
Pkd1	T	A	17: 24,799,201 (GRCm39)	F2807I	probably damaging	Het
Plekha4	C	T	7: 45,190,572 (GRCm39)	R427C	probably damaging	Het
Ptprj	A	T	2: 90,288,693 (GRCm39)	F757L	probably benign	Het
Rad1	A	G	15: 10,492,907 (GRCm39)	D208G	probably damaging	Het
Rangrf	T	A	11: 68,863,538 (GRCm39)	N156I	probably benign	Het
Rasl11b	T	C	5: 74,359,037 (GRCm39)	S181P	probably damaging	Het
Rigi	T	A	4: 40,222,199 (GRCm39)		probably null	Het
Rlf	G	A	4: 121,006,557 (GRCm39)	Q808*	probably null	Het
Rogdi	G	T	16: 4,831,241 (GRCm39)		probably null	Het
Sec24a	A	T	11: 51,608,603 (GRCm39)	V573D	probably damaging	Het
Sorbs2	A	G	8: 46,223,615 (GRCm39)	T200A	probably damaging	Het
Srgap2	C	T	1: 131,219,367 (GRCm39)	R259H	probably benign	Het
Ssc5d	T	A	7: 4,939,664 (GRCm39)	V700E	probably benign	Het
Stt3a	A	T	9: 36,662,592 (GRCm39)	H222Q	probably damaging	Het
Tcaf3	A	T	6: 42,574,193 (GRCm39)	D6E	possibly damaging	Het
Tdrd12	C	T	7: 35,189,473 (GRCm39)	R421H	probably damaging	Het
Top3b	T	C	16: 16,696,935 (GRCm39)	M62T	probably damaging	Het
Trhr	T	G	15: 44,092,694 (GRCm39)	Y310*	probably null	Het
Urb2	G	T	8: 124,757,864 (GRCm39)	E1190D	probably damaging	Het
Usp34	A	G	11: 23,331,353 (GRCm39)	T1085A	probably damaging	Het
Vmn1r179	T	A	7: 23,628,491 (GRCm39)	H227Q	possibly damaging	Het
Vmn1r31	A	T	6: 58,448,995 (GRCm39)	M290K	probably benign	Het
Wdr75	T	C	1: 45,841,291 (GRCm39)		probably null	Het
Wnk1	A	T	6: 119,925,546 (GRCm39)	V1306D	probably damaging	Het
Xkr4	T	C	1: 3,741,001 (GRCm39)	T191A	probably benign	Het
Zc3h15	A	G	2: 83,491,567 (GRCm39)	E265G	probably benign	Het
Zcchc9	A	G	13: 91,948,816 (GRCm39)	F41S	possibly damaging	Het
Zfp251	T	C	15: 76,738,337 (GRCm39)	H247R	probably damaging	Het
Zfp433	A	G	10: 81,555,957 (GRCm39)	E152G	probably damaging	Het
Zfp770	A	T	2: 114,027,240 (GRCm39)	S276R	probably benign	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
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
R9227:Gfpt1	UTSW	6	87,027,906 (GRCm39)	missense	probably damaging	1.00
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'- TTCCAGGGTTCCCTATGAGG -3'
(R):5'- AGCTGAGATCTCTCTGATTTTAGG -3'

Sequencing Primer
(F):5'- CTATGAGGGCCATCTTCCTAGG -3'
(R):5'- CCCCCATGTATTATTGAAAATGAGAC -3'

Posted On

2018-04-27