Mutagenetix > Incidental Mutation

Incidental Mutation 'R7603:Fggy'

588110

Institutional Source

Beutler Lab

Gene Symbol

Fggy

Ensembl Gene

ENSMUSG00000028573

Gene Name

FGGY carbohydrate kinase domain containing

Synonyms

2310009E04Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7603 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95557507-95926939 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 95769506 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 295 (G295R)

Ref Sequence

ENSEMBL: ENSMUSP00000043460 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043335] [ENSMUST00000079223] [ENSMUST00000107091] [ENSMUST00000130541] [ENSMUST00000131654] [ENSMUST00000134012]

AlphaFold

A2AJL3

Predicted Effect

probably damaging
Transcript: ENSMUST00000043335
AA Change: G295R

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

SMART Domains

Protein: ENSMUSP00000043460
Gene: ENSMUSG00000028573
AA Change: G295R

Domain	Start	End	E-Value	Type
Pfam:FGGY_N	12	268	1.7e-29	PFAM
Pfam:FGGY_C	290	373	1.9e-14	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000079223
AA Change: G295R

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

SMART Domains

Protein: ENSMUSP00000078216
Gene: ENSMUSG00000028573
AA Change: G295R

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

probably damaging
Transcript: ENSMUST00000107091
AA Change: G207R

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

SMART Domains

Protein: ENSMUSP00000102706
Gene: ENSMUSG00000028573
AA Change: G207R

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

probably benign
Transcript: ENSMUST00000131654

SMART Domains

Protein: ENSMUSP00000116264
Gene: ENSMUSG00000028573

Domain	Start	End	E-Value	Type
Pfam:FGGY_N	12	82	1.6e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134012

SMART Domains

Protein: ENSMUSP00000115859
Gene: ENSMUSG00000028573

Domain	Start	End	E-Value	Type
SCOP:d1bu6o1	20	107	6e-8	SMART
PDB:3L0Q\|B	25	110	2e-24	PDB

Coding Region Coverage

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

Validation Efficiency

98% (47/48)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	C	11: 23,566,191	T709A	probably benign	Het
Abca6	T	C	11: 110,180,258	K1536E	possibly damaging	Het
Abhd16a	T	A	17: 35,101,960		probably null	Het
Actrt3	C	T	3: 30,598,547	A133T	probably benign	Het
Adcy10	C	T	1: 165,564,237	R1329W	probably damaging	Het
Apol7b	T	C	15: 77,423,456	M280V	possibly damaging	Het
Canx	A	T	11: 50,311,628	D50E	probably benign	Het
Csmd1	A	T	8: 16,288,682	D470E	probably damaging	Het
Cyp2c23	C	T	19: 44,014,930	D269N	probably damaging	Het
Ddah1	T	C	3: 145,759,019	V53A	probably benign	Het
Epha7	C	T	4: 28,871,937	S422L	probably benign	Het
Fastkd5	A	G	2: 130,615,041	V543A	possibly damaging	Het
Frs2	T	C	10: 117,074,063	T465A	probably benign	Het
Glipr1	A	T	10: 111,988,832	N156K	probably benign	Het
Gnpnat1	C	T	14: 45,384,617	V40I	probably benign	Het
H2-Q7	T	C	17: 35,439,963	L130P	probably damaging	Het
Herc1	T	A	9: 66,451,383	L86*	probably null	Het
Hspg2	T	C	4: 137,548,368	L2778P	probably damaging	Het
Hspg2	T	A	4: 137,557,192	I3487N	possibly damaging	Het
Htra4	T	G	8: 25,025,700	I441L	probably benign	Het
Ints7	A	T	1: 191,596,224	H203L	probably damaging	Het
Lama2	T	C	10: 27,266,680	T601A	possibly damaging	Het
Lin7b	T	C	7: 45,368,432		probably benign	Het
Lmbr1l	G	A	15: 98,908,691	Q280*	probably null	Het
Lpin3	G	T	2: 160,903,754		probably null	Het
Map1lc3b	A	T	8: 121,593,529	H27L	possibly damaging	Het
Mfsd14a	C	A	3: 116,633,883	V369F	probably damaging	Het
Ndufa12	C	T	10: 94,220,779	A123V	probably benign	Het
Nek9	A	G	12: 85,303,514	F929L	probably benign	Het
Nup210	A	T	6: 91,076,697	D279E	probably benign	Het
Olfr553	A	G	7: 102,614,938	V17A	probably benign	Het
Parp1	T	C	1: 180,600,212		probably null	Het
Phc3	T	C	3: 30,907,452	I944V	probably damaging	Het
Phf20	C	T	2: 156,302,851	A793V	probably benign	Het
Phf21a	A	C	2: 92,357,007	R540S	probably benign	Het
Pogk	A	G	1: 166,401,911	C124R	probably benign	Het
Rif1	C	T	2: 52,076,175	S93L	probably damaging	Het
Sele	A	G	1: 164,049,515	E120G	probably damaging	Het
Slc4a1ap	T	C	5: 31,546,195	L49P		Het
Snap47	T	C	11: 59,428,547	D255G	probably damaging	Het
Tcstv3	T	C	13: 120,317,610	V15A	probably damaging	Het
Tmcc1	A	T	6: 116,043,131	Y453*	probably null	Het
Tpsg1	G	T	17: 25,373,210	G86V	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,772,573		probably benign	Het
Usp20	T	A	2: 31,011,474	V459E	probably damaging	Het
Vmn1r202	A	T	13: 22,501,620	L209Q	probably damaging	Het
Vps13b	T	C	15: 35,576,439	S998P	probably damaging	Het

Other mutations in Fggy

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00835:Fggy	APN	4	95837628	missense	possibly damaging	0.86
IGL02377:Fggy	APN	4	95623477	unclassified	probably benign
IGL02417:Fggy	APN	4	95849609	missense	probably benign	0.01
IGL02527:Fggy	APN	4	95697069	missense	probably damaging	1.00
IGL02967:Fggy	APN	4	95926749	missense	possibly damaging	0.74
IGL03053:Fggy	APN	4	95926809	unclassified	probably benign
IGL03168:Fggy	APN	4	95926809	unclassified	probably benign
IGL03370:Fggy	APN	4	95822064	missense	probably damaging	1.00
R0164:Fggy	UTSW	4	95837654	missense	probably damaging	0.97
R0164:Fggy	UTSW	4	95837654	missense	probably damaging	0.97
R0312:Fggy	UTSW	4	95844185	missense	probably damaging	1.00
R0520:Fggy	UTSW	4	95601103	missense	probably damaging	1.00
R0747:Fggy	UTSW	4	95812100	splice site	probably benign
R0940:Fggy	UTSW	4	95697001	missense	probably benign	0.40
R1513:Fggy	UTSW	4	95902058	intron	probably benign
R1746:Fggy	UTSW	4	95926728	missense	probably damaging	1.00
R2998:Fggy	UTSW	4	95849585	missense	probably benign	0.01
R3848:Fggy	UTSW	4	95601124	unclassified	probably benign
R4913:Fggy	UTSW	4	95697076	critical splice donor site	probably null
R5458:Fggy	UTSW	4	95926743	missense	probably benign
R5868:Fggy	UTSW	4	95696988	missense	probably damaging	0.99
R6583:Fggy	UTSW	4	95600973	missense	probably benign	0.01
R6589:Fggy	UTSW	4	95597638	missense	probably benign	0.00
R7332:Fggy	UTSW	4	95623482	missense	probably damaging	0.98
R7359:Fggy	UTSW	4	95769480	missense	probably benign	0.40
R7453:Fggy	UTSW	4	95597690	missense	probably damaging	1.00
R7806:Fggy	UTSW	4	95600966	missense	probably benign	0.02
R8072:Fggy	UTSW	4	95844157	missense	possibly damaging	0.75
R8199:Fggy	UTSW	4	95812144	missense	probably benign	0.10
R8348:Fggy	UTSW	4	95844190	missense	probably benign	0.11
R8430:Fggy	UTSW	4	95926765	utr 3 prime	probably benign
R8448:Fggy	UTSW	4	95844190	missense	probably benign	0.11
R8503:Fggy	UTSW	4	95902058	intron	probably benign
R8682:Fggy	UTSW	4	95812121	missense	probably damaging	1.00
R9044:Fggy	UTSW	4	95844097	missense	probably benign	0.30
R9059:Fggy	UTSW	4	95800604	nonsense	probably null
X0067:Fggy	UTSW	4	95696992	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATATACTTCCTAGTTTGCCCTTGG -3'
(R):5'- ACAAGTTGGCCACTGGAAAG -3'

Sequencing Primer
(F):5'- GCCCTTGGCTAGCAAGTAAATTTTTG -3'
(R):5'- CCACTGGAAAGAGGCTTGGC -3'

Posted On

2019-10-24