Mutagenetix > Incidental Mutation

Incidental Mutation 'R7261:Gfpt2'

564639

Institutional Source

Beutler Lab

Gene Symbol

Gfpt2

Ensembl Gene

ENSMUSG00000020363

Gene Name

glutamine fructose-6-phosphate transaminase 2

Synonyms

GFAT2

MMRRC Submission

045387-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7261 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49685005-49729440 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 49714078 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 278 (E278D)

Ref Sequence

ENSEMBL: ENSMUSP00000020629 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020629]

AlphaFold

Q9Z2Z9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020629
AA Change: E278D

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000020629
Gene: ENSMUSG00000020363
AA Change: E278D

Domain	Start	End	E-Value	Type
Pfam:GATase_6	72	212	1e-19	PFAM
Pfam:GATase_4	75	206	1.6e-7	PFAM
Pfam:GATase_7	90	209	8.2e-16	PFAM
Pfam:SIS	363	492	1.7e-38	PFAM
Pfam:SIS	534	665	1.2e-29	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

99% (84/85)

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	C	11: 84,259,526 (GRCm39)	F1954L	probably damaging	Het
Acmsd	T	G	1: 127,687,561 (GRCm39)	I281R	probably damaging	Het
Adamts2	A	T	11: 50,677,424 (GRCm39)	M742L	possibly damaging	Het
Adgrf4	G	A	17: 42,978,326 (GRCm39)	T339I	probably benign	Het
Aff1	T	C	5: 103,976,245 (GRCm39)	S448P	probably damaging	Het
Agbl2	A	T	2: 90,619,288 (GRCm39)	S38C	possibly damaging	Het
Akap7	C	T	10: 25,147,416 (GRCm39)	D105N	possibly damaging	Het
Arhgap21	A	G	2: 20,885,177 (GRCm39)	F677L	probably benign	Het
Atf6b	G	T	17: 34,869,792 (GRCm39)	V271F	probably damaging	Het
B3gnt5	A	G	16: 19,588,123 (GRCm39)	Y114C	probably damaging	Het
Casp7	T	A	19: 56,424,765 (GRCm39)	D161E	probably benign	Het
Catsper4	TTCTC	TTC	4: 133,954,423 (GRCm39)		probably null	Het
Ccdc162	T	C	10: 41,437,136 (GRCm39)	T1758A	probably benign	Het
Cfap74	C	A	4: 155,549,831 (GRCm39)	P155T	unknown	Het
Champ1	A	G	8: 13,928,517 (GRCm39)	D225G	possibly damaging	Het
Chrng	A	T	1: 87,134,962 (GRCm39)		probably null	Het
Cnksr1	T	C	4: 133,963,084 (GRCm39)		probably null	Het
Col15a1	G	A	4: 47,269,088 (GRCm39)	G582D	probably benign	Het
Cwc25	A	G	11: 97,648,585 (GRCm39)	V81A	possibly damaging	Het
Ddhd1	A	G	14: 45,894,688 (GRCm39)	Y261H	probably damaging	Het
Defa29	A	G	8: 21,816,818 (GRCm39)		probably null	Het
Diaph3	A	C	14: 87,202,893 (GRCm39)	C666G	probably benign	Het
Dlx2	A	G	2: 71,375,019 (GRCm39)	Y282H	probably damaging	Het
Dsc3	A	T	18: 20,113,814 (GRCm39)	Y369*	probably null	Het
Dtwd1	A	G	2: 126,000,424 (GRCm39)	N120S	probably benign	Het
Dysf	G	A	6: 84,169,992 (GRCm39)	S1761N	probably damaging	Het
Enthd1	A	T	15: 80,444,416 (GRCm39)	N46K	probably damaging	Het
Epha7	T	A	4: 28,813,418 (GRCm39)	I12N	probably benign	Het
Fam171a2	T	A	11: 102,328,900 (GRCm39)	N620Y	probably damaging	Het
Garin4	T	C	1: 190,896,308 (GRCm39)	S112G	unknown	Het
Gm3285	A	G	10: 77,698,244 (GRCm39)	Q131R	unknown	Het
Gpcpd1	A	C	2: 132,410,619 (GRCm39)	C23G	probably damaging	Het
Gtpbp4	A	T	13: 9,037,954 (GRCm39)	H228Q	probably benign	Het
Hdac7	A	G	15: 97,704,415 (GRCm39)	V500A	probably benign	Het
Hykk	T	G	9: 54,828,010 (GRCm39)	M83R	possibly damaging	Het
Idi1	A	G	13: 8,936,931 (GRCm39)	I101V	probably benign	Het
Irs2	A	T	8: 11,057,018 (GRCm39)	H471Q	possibly damaging	Het
Itsn1	T	C	16: 91,702,194 (GRCm39)	V12A	probably benign	Het
Jak2	A	G	19: 29,288,385 (GRCm39)	I1079V	possibly damaging	Het
Kcnt2	G	A	1: 140,282,255 (GRCm39)	R80H	possibly damaging	Het
Lamb2	T	C	9: 108,358,496 (GRCm39)	Y178H	probably damaging	Het
Lgr5	A	T	10: 115,423,370 (GRCm39)	L10Q	possibly damaging	Het
Lnx1	G	T	5: 74,838,175 (GRCm39)	S29*	probably null	Het
Lpcat3	T	A	6: 124,675,050 (GRCm39)	F57I	probably benign	Het
Manf	T	C	9: 106,769,088 (GRCm39)	T4A	probably benign	Het
Map2k3	G	A	11: 60,836,393 (GRCm39)		probably null	Het
Myh14	G	A	7: 44,273,761 (GRCm39)	Q1329*	probably null	Het
Myocd	T	C	11: 65,078,422 (GRCm39)	S458G	probably damaging	Het
Ncor2	T	C	5: 125,187,143 (GRCm39)		probably null	Het
Ndufs8	A	T	19: 3,961,606 (GRCm39)	N23K	probably benign	Het
Nkx6-1	T	C	5: 101,812,006 (GRCm39)	K32R	unknown	Het
Nlrp3	T	G	11: 59,439,272 (GRCm39)	V283G	possibly damaging	Het
Nme3	A	G	17: 25,116,037 (GRCm39)		probably null	Het
Or1o3	A	G	17: 37,574,076 (GRCm39)	F160L	probably benign	Het
Or8g23	C	T	9: 38,971,504 (GRCm39)	V153M	possibly damaging	Het
Parvg	T	C	15: 84,215,297 (GRCm39)		probably null	Het
Peg10	T	A	6: 4,756,591 (GRCm39)	M389K	unknown	Het
Phf23	G	T	11: 69,890,091 (GRCm39)	C340F	possibly damaging	Het
Piwil2	A	G	14: 70,611,860 (GRCm39)	Y929H	probably damaging	Het
Prss39	A	G	1: 34,539,369 (GRCm39)	D203G	probably damaging	Het
Prss54	G	T	8: 96,286,367 (GRCm39)	D235E	probably benign	Het
Prtg	T	A	9: 72,815,117 (GRCm39)	M1015K	possibly damaging	Het
Rbbp8	T	C	18: 11,838,799 (GRCm39)	I160T	probably damaging	Het
Rxylt1	A	T	10: 121,924,822 (GRCm39)	D293E	probably benign	Het
Scn10a	C	A	9: 119,438,790 (GRCm39)	C1692F	probably damaging	Het
Scn11a	C	T	9: 119,648,899 (GRCm39)	D55N	probably damaging	Het
Secisbp2	G	T	13: 51,836,498 (GRCm39)	V768F	probably damaging	Het
Skic3	A	G	13: 76,261,698 (GRCm39)	T138A	probably benign	Het
Spag16	T	C	1: 70,338,780 (GRCm39)	I426T	possibly damaging	Het
Sspo	G	A	6: 48,427,011 (GRCm39)	V250M	possibly damaging	Het
Strbp	A	T	2: 37,531,149 (GRCm39)		probably null	Het
Sv2c	C	T	13: 96,224,809 (GRCm39)	V167M	probably damaging	Het
Tdpoz1	G	A	3: 93,577,794 (GRCm39)	S330L	not run	Het
Tigd2	T	A	6: 59,188,052 (GRCm39)	D306E	probably benign	Het
Trrap	C	T	5: 144,782,287 (GRCm39)	P3278S	possibly damaging	Het
Vdac1	A	T	11: 52,265,761 (GRCm39)	K28N	probably damaging	Het
Vmn1r84	A	T	7: 12,096,069 (GRCm39)	M208K	probably damaging	Het
Vmn2r77	A	T	7: 86,460,518 (GRCm39)	K615*	probably null	Het
Vps11	A	G	9: 44,265,800 (GRCm39)	L493P	probably damaging	Het
Zbtb21	T	C	16: 97,754,179 (GRCm39)	I35V	possibly damaging	Het
Zbtb26	A	T	2: 37,326,667 (GRCm39)	M123K	possibly damaging	Het
Zfp236	A	T	18: 82,627,470 (GRCm39)	D1576E	possibly damaging	Het

Other mutations in Gfpt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00934:Gfpt2	APN	11	49,699,950 (GRCm39)	missense	probably benign	0.00
IGL01451:Gfpt2	APN	11	49,698,517 (GRCm39)	splice site	probably benign
IGL01490:Gfpt2	APN	11	49,717,954 (GRCm39)	splice site	probably benign
IGL01550:Gfpt2	APN	11	49,715,150 (GRCm39)	splice site	probably null
IGL01552:Gfpt2	APN	11	49,695,832 (GRCm39)	nonsense	probably null
IGL02349:Gfpt2	APN	11	49,698,530 (GRCm39)	missense	probably benign	0.02
IGL02815:Gfpt2	APN	11	49,714,084 (GRCm39)	missense	possibly damaging	0.89
plethora	UTSW	11	49,715,268 (GRCm39)	missense	probably damaging	1.00
R0525:Gfpt2	UTSW	11	49,720,602 (GRCm39)	missense	probably benign	0.06
R0539:Gfpt2	UTSW	11	49,723,725 (GRCm39)	missense	probably damaging	1.00
R1055:Gfpt2	UTSW	11	49,718,038 (GRCm39)	missense	probably damaging	1.00
R1178:Gfpt2	UTSW	11	49,714,136 (GRCm39)	missense	probably benign	0.42
R1340:Gfpt2	UTSW	11	49,723,688 (GRCm39)	missense	probably damaging	1.00
R2372:Gfpt2	UTSW	11	49,698,542 (GRCm39)	missense	probably benign	0.00
R4154:Gfpt2	UTSW	11	49,726,605 (GRCm39)	splice site	probably null
R4476:Gfpt2	UTSW	11	49,715,169 (GRCm39)	missense	probably benign	0.17
R4679:Gfpt2	UTSW	11	49,714,564 (GRCm39)	missense	probably benign	0.00
R4863:Gfpt2	UTSW	11	49,701,797 (GRCm39)	missense	probably benign	0.06
R5113:Gfpt2	UTSW	11	49,714,626 (GRCm39)	missense	probably damaging	1.00
R5509:Gfpt2	UTSW	11	49,717,973 (GRCm39)	missense	possibly damaging	0.75
R5830:Gfpt2	UTSW	11	49,699,888 (GRCm39)	missense	probably benign	0.03
R6435:Gfpt2	UTSW	11	49,726,478 (GRCm39)	missense	probably benign	0.00
R7079:Gfpt2	UTSW	11	49,728,578 (GRCm39)	missense	possibly damaging	0.77
R7135:Gfpt2	UTSW	11	49,695,782 (GRCm39)	missense	probably damaging	1.00
R7294:Gfpt2	UTSW	11	49,709,435 (GRCm39)	nonsense	probably null
R7384:Gfpt2	UTSW	11	49,701,817 (GRCm39)	missense	possibly damaging	0.56
R7778:Gfpt2	UTSW	11	49,715,268 (GRCm39)	missense	probably damaging	1.00
R7806:Gfpt2	UTSW	11	49,714,142 (GRCm39)	missense	probably benign
R7824:Gfpt2	UTSW	11	49,715,268 (GRCm39)	missense	probably damaging	1.00
R8245:Gfpt2	UTSW	11	49,714,785 (GRCm39)	missense	probably benign	0.01
R8262:Gfpt2	UTSW	11	49,714,607 (GRCm39)	missense	probably benign	0.02
R8437:Gfpt2	UTSW	11	49,695,694 (GRCm39)	intron	probably benign
R8791:Gfpt2	UTSW	11	49,714,043 (GRCm39)	missense	probably benign	0.01
R9072:Gfpt2	UTSW	11	49,714,185 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCCTCTGGGACAACAAGTA -3'
(R):5'- CGAGATATTCTATTCTCCAAGGCA -3'

Sequencing Primer
(F):5'- GGTGCAACAGCCATTTATGATCC -3'
(R):5'- GGCAACTATACAGGGACTCTTG -3'

Posted On

2019-06-26