Mutagenetix > Incidental Mutation

Incidental Mutation 'R8448:Fggy'

654586

Institutional Source

Beutler Lab

Gene Symbol

Fggy

Ensembl Gene

ENSMUSG00000028573

Gene Name

FGGY carbohydrate kinase domain containing

Synonyms

2310009E04Rik

MMRRC Submission

067828-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8448 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95445744-95815176 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95732427 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 473 (T473A)

Ref Sequence

ENSEMBL: ENSMUSP00000078216 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079223] [ENSMUST00000107091] [ENSMUST00000130541]

AlphaFold

A2AJL3

Predicted Effect

probably benign
Transcript: ENSMUST00000079223
AA Change: T473A

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000078216
Gene: ENSMUSG00000028573
AA Change: T473A

Domain	Start	End	E-Value	Type
Pfam:FGGY_N	12	268	3.3e-27	PFAM
Pfam:FGGY_C	290	498	1.1e-50	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107091
AA Change: T385A

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102706
Gene: ENSMUSG00000028573
AA Change: T385A

Domain	Start	End	E-Value	Type
Pfam:FGGY_N	12	78	1.7e-10	PFAM
Pfam:FGGY_C	202	410	1.5e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130541

SMART Domains

Protein: ENSMUSP00000115688
Gene: ENSMUSG00000028573

Domain	Start	End	E-Value	Type
Pfam:FGGY_C	1	150	3.3e-23	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000118147
Gene: ENSMUSG00000028573
AA Change: T114A

Domain	Start	End	E-Value	Type
Pfam:FGGY_C	6	124	8.5e-26	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that phosphorylates carbohydrates such as ribulose, ribitol, and L-arabinitol. Genome-wide association studies in some populations have found an association between polymorphisms in this gene and sporadic amyotrophic lateral sclerosis, but studies of other populations have not been able to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	C	4: 62,461,022 (GRCm39)		probably null	Het
Adamts6	T	A	13: 104,616,027 (GRCm39)	C1030S	probably damaging	Het
Adamtsl3	C	A	7: 82,253,007 (GRCm39)	T1527K	possibly damaging	Het
Akap9	G	A	5: 3,998,897 (GRCm39)		probably null	Het
Ankle2	C	A	5: 110,389,909 (GRCm39)	P457T	possibly damaging	Het
Ankrd7	A	G	6: 18,868,007 (GRCm39)	N91S	probably damaging	Het
Ascc3	C	A	10: 50,494,173 (GRCm39)	Q203K	probably benign	Het
Baz2b	A	T	2: 59,742,137 (GRCm39)	D61E		Het
Bmpr1a	T	A	14: 34,136,759 (GRCm39)	K477N	probably benign	Het
Cacna1d	T	C	14: 29,824,364 (GRCm39)	I1040V	probably damaging	Het
Castor2	T	C	5: 134,166,955 (GRCm39)	F304L	possibly damaging	Het
Cdkn2a	C	A	4: 89,200,291 (GRCm39)	V20L	possibly damaging	Het
Chd5	A	G	4: 152,445,173 (GRCm39)	S385G	probably damaging	Het
Cntrob	A	G	11: 69,190,679 (GRCm39)	F46L	unknown	Het
Cth	T	C	3: 157,630,657 (GRCm39)	D4G	probably benign	Het
Cyld	C	T	8: 89,456,197 (GRCm39)	H416Y	probably damaging	Het
Dennd6a	C	A	14: 26,328,098 (GRCm39)	H264Q	possibly damaging	Het
Dnah1	T	C	14: 31,015,682 (GRCm39)	Y1672C	probably damaging	Het
Dnah8	A	G	17: 30,892,814 (GRCm39)	I800V	probably benign	Het
Esrp2	A	G	8: 106,858,853 (GRCm39)	Y595H	probably damaging	Het
F12	T	A	13: 55,566,301 (GRCm39)	Y497F	probably benign	Het
Garre1	A	T	7: 33,984,569 (GRCm39)	L18Q	probably damaging	Het
Gstt2	C	A	10: 75,668,526 (GRCm39)	R107L	probably damaging	Het
Hectd4	A	T	5: 121,358,319 (GRCm39)		probably benign	Het
Helb	A	G	10: 119,938,791 (GRCm39)	F561S	probably damaging	Het
Ints2	T	C	11: 86,146,249 (GRCm39)	T120A	probably benign	Het
Kdm5d	G	A	Y: 914,056 (GRCm39)	R331H	probably benign	Het
Krt6b	A	G	15: 101,586,455 (GRCm39)	Y345H	probably damaging	Het
Limch1	A	G	5: 67,159,825 (GRCm39)	K418E	probably damaging	Het
Lrrc37	T	A	11: 103,511,726 (GRCm39)	T81S	unknown	Het
Med17	C	T	9: 15,173,735 (GRCm39)		probably null	Het
Met	A	T	6: 17,571,799 (GRCm39)	I1373F	probably benign	Het
Naip6	T	A	13: 100,436,894 (GRCm39)	Q543L	possibly damaging	Het
Nat9	T	C	11: 115,075,902 (GRCm39)	T40A	probably damaging	Het
Notch4	A	T	17: 34,805,763 (GRCm39)		probably null	Het
Ogdh	A	G	11: 6,292,619 (GRCm39)	N455S	probably damaging	Het
Or52k2	C	A	7: 102,254,207 (GRCm39)	F215L	probably benign	Het
Pde4a	T	C	9: 21,117,534 (GRCm39)	F599L	probably benign	Het
Pga5	T	C	19: 10,649,173 (GRCm39)	Y249C	probably damaging	Het
Plekha8	A	T	6: 54,607,539 (GRCm39)	K382M	probably damaging	Het
Plekhd1	A	T	12: 80,753,149 (GRCm39)	E119V	probably damaging	Het
Pnp	A	T	14: 51,185,356 (GRCm39)	H20L	probably benign	Het
Polq	A	T	16: 36,837,559 (GRCm39)		probably null	Het
Psma3	T	G	12: 71,035,250 (GRCm39)	I177R	probably damaging	Het
Ptpn3	A	G	4: 57,240,784 (GRCm39)		probably null	Het
Ptprt	A	T	2: 161,400,806 (GRCm39)	L1077Q	probably damaging	Het
Ralgps2	A	T	1: 156,651,744 (GRCm39)		probably null	Het
Rbm47	A	T	5: 66,184,573 (GRCm39)	M10K	possibly damaging	Het
Rere	A	G	4: 150,703,653 (GRCm39)	D186G	probably damaging	Het
Rpl24	T	C	16: 55,787,453 (GRCm39)	S38P	probably damaging	Het
Slco1a1	A	T	6: 141,885,787 (GRCm39)	F79L	possibly damaging	Het
Sorl1	T	A	9: 41,903,041 (GRCm39)	D1551V	probably benign	Het
Sos1	C	A	17: 80,741,548 (GRCm39)	M412I	probably benign	Het
Spast	G	A	17: 74,666,293 (GRCm39)	V209I	probably benign	Het
Spindoc	G	T	19: 7,335,769 (GRCm39)	Q340K	possibly damaging	Het
Tlr6	T	C	5: 65,111,185 (GRCm39)	Y574C	probably damaging	Het
Tnrc6a	A	G	7: 122,791,346 (GRCm39)	N1748S	possibly damaging	Het
Trbv13-2	A	T	6: 41,098,474 (GRCm39)	K16N	probably benign	Het
Triobp	C	T	15: 78,878,326 (GRCm39)	H1750Y	possibly damaging	Het
Usp24	A	G	4: 106,225,933 (GRCm39)	D659G	possibly damaging	Het
Vmn2r88	T	A	14: 51,656,253 (GRCm39)	C821S	probably damaging	Het
Whamm	T	A	7: 81,224,295 (GRCm39)	V197D	probably damaging	Het
Zfp777	A	G	6: 48,006,101 (GRCm39)	F431S	probably damaging	Het

Other mutations in Fggy

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00835:Fggy	APN	4	95,725,865 (GRCm39)	missense	possibly damaging	0.86
IGL02377:Fggy	APN	4	95,511,714 (GRCm39)	unclassified	probably benign
IGL02417:Fggy	APN	4	95,737,846 (GRCm39)	missense	probably benign	0.01
IGL02527:Fggy	APN	4	95,585,306 (GRCm39)	missense	probably damaging	1.00
IGL02967:Fggy	APN	4	95,814,986 (GRCm39)	missense	possibly damaging	0.74
IGL03053:Fggy	APN	4	95,815,046 (GRCm39)	unclassified	probably benign
IGL03168:Fggy	APN	4	95,815,046 (GRCm39)	unclassified	probably benign
IGL03370:Fggy	APN	4	95,710,301 (GRCm39)	missense	probably damaging	1.00
R0164:Fggy	UTSW	4	95,725,891 (GRCm39)	missense	probably damaging	0.97
R0164:Fggy	UTSW	4	95,725,891 (GRCm39)	missense	probably damaging	0.97
R0312:Fggy	UTSW	4	95,732,422 (GRCm39)	missense	probably damaging	1.00
R0520:Fggy	UTSW	4	95,489,340 (GRCm39)	missense	probably damaging	1.00
R0747:Fggy	UTSW	4	95,700,337 (GRCm39)	splice site	probably benign
R0940:Fggy	UTSW	4	95,585,238 (GRCm39)	missense	probably benign	0.40
R1513:Fggy	UTSW	4	95,790,295 (GRCm39)	intron	probably benign
R1746:Fggy	UTSW	4	95,814,965 (GRCm39)	missense	probably damaging	1.00
R2998:Fggy	UTSW	4	95,737,822 (GRCm39)	missense	probably benign	0.01
R3848:Fggy	UTSW	4	95,489,361 (GRCm39)	unclassified	probably benign
R4913:Fggy	UTSW	4	95,585,313 (GRCm39)	critical splice donor site	probably null
R5458:Fggy	UTSW	4	95,814,980 (GRCm39)	missense	probably benign
R5868:Fggy	UTSW	4	95,585,225 (GRCm39)	missense	probably damaging	0.99
R6583:Fggy	UTSW	4	95,489,210 (GRCm39)	missense	probably benign	0.01
R6589:Fggy	UTSW	4	95,485,875 (GRCm39)	missense	probably benign	0.00
R7332:Fggy	UTSW	4	95,511,719 (GRCm39)	missense	probably damaging	0.98
R7359:Fggy	UTSW	4	95,657,717 (GRCm39)	missense	probably benign	0.40
R7453:Fggy	UTSW	4	95,485,927 (GRCm39)	missense	probably damaging	1.00
R7603:Fggy	UTSW	4	95,657,743 (GRCm39)	missense	probably damaging	1.00
R7806:Fggy	UTSW	4	95,489,203 (GRCm39)	missense	probably benign	0.02
R8072:Fggy	UTSW	4	95,732,394 (GRCm39)	missense	possibly damaging	0.75
R8199:Fggy	UTSW	4	95,700,381 (GRCm39)	missense	probably benign	0.10
R8348:Fggy	UTSW	4	95,732,427 (GRCm39)	missense	probably benign	0.11
R8430:Fggy	UTSW	4	95,815,002 (GRCm39)	utr 3 prime	probably benign
R8503:Fggy	UTSW	4	95,790,295 (GRCm39)	intron	probably benign
R8682:Fggy	UTSW	4	95,700,358 (GRCm39)	missense	probably damaging	1.00
R9044:Fggy	UTSW	4	95,732,334 (GRCm39)	missense	probably benign	0.30
R9059:Fggy	UTSW	4	95,688,841 (GRCm39)	nonsense	probably null
X0067:Fggy	UTSW	4	95,585,229 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAAATCTCTAGGAGGGTAAGGCAG -3'
(R):5'- AACTGCACATATCTGAGAGTGC -3'

Sequencing Primer
(F):5'- CACATGCCAAATATGAGAGTTGCTG -3'
(R):5'- CACCACAATGGTTCCCTA -3'

Posted On

2020-10-20