Mutagenetix > Incidental Mutation

Incidental Mutation 'R8734:Gne'

662907

Institutional Source

Beutler Lab

Gene Symbol

Gne

Ensembl Gene

ENSMUSG00000028479

Gene Name

glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase

Synonyms

2310066H07Rik

MMRRC Submission

068582-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8734 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44034075-44084177 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 44072911 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133440 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030201] [ENSMUST00000102936] [ENSMUST00000128439] [ENSMUST00000133709] [ENSMUST00000140724] [ENSMUST00000144985] [ENSMUST00000173383]

AlphaFold

Q91WG8

Predicted Effect

probably benign
Transcript: ENSMUST00000030201

SMART Domains

Protein: ENSMUSP00000030201
Gene: ENSMUSG00000028479

Domain	Start	End	E-Value	Type
Pfam:Epimerase_2	63	406	2.3e-69	PFAM
Pfam:ROK	440	747	1.4e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102936

SMART Domains

Protein: ENSMUSP00000100000
Gene: ENSMUSG00000028479

Domain	Start	End	E-Value	Type
Pfam:Epimerase_2	32	375	5.1e-75	PFAM
Pfam:ROK	411	596	6.5e-44	PFAM
low complexity region	685	707	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128439

Predicted Effect

probably benign
Transcript: ENSMUST00000133709

Predicted Effect

probably benign
Transcript: ENSMUST00000140724

Predicted Effect

probably benign
Transcript: ENSMUST00000144985

SMART Domains

Protein: ENSMUSP00000118443
Gene: ENSMUSG00000028479

Domain	Start	End	E-Value	Type
Pfam:Epimerase_2	71	213	1.3e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173383

SMART Domains

Protein: ENSMUSP00000133440
Gene: ENSMUSG00000028479

Domain	Start	End	E-Value	Type
Pfam:Epimerase_2	32	133	3.9e-22	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting enzyme in the sialic acid biosynthetic pathway. Sialic acid modification of cell surface molecules is crucial for their function in many biologic processes, including cell adhesion and signal transduction. Differential sialylation of cell surface molecules is also implicated in the tumorigenicity and metastatic behavior of malignant cells. Mutations in this gene are associated with sialuria, autosomal recessive inclusion body myopathy, and Nonaka myopathy. Alternative splicing of this gene results in transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene causes a block in sialic acid biosynthesis and early embryonic lethality. A knockout mouse expressing the human V572L mutation shows features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	A	19: 43,770,855 (GRCm39)	C5S	probably damaging	Het
Actl6a	G	A	3: 32,774,104 (GRCm39)	D275N	probably benign	Het
Ahctf1	C	A	1: 179,608,430 (GRCm39)	E681*	probably null	Het
Ankub1	G	A	3: 57,599,706 (GRCm39)	S21L	probably benign	Het
Apmap	T	A	2: 150,430,824 (GRCm39)	K178N	probably benign	Het
Arhgap15	T	A	2: 44,133,130 (GRCm39)	N345K	probably damaging	Het
Armc8	A	G	9: 99,402,538 (GRCm39)	V379A	probably benign	Het
Atmin	G	A	8: 117,681,525 (GRCm39)	D175N	possibly damaging	Het
Atp5pd	T	C	11: 115,307,689 (GRCm39)	E94G	possibly damaging	Het
B3gnt3	G	A	8: 72,146,145 (GRCm39)	T128M	probably damaging	Het
Ccdc88c	T	A	12: 100,906,394 (GRCm39)	T1040S	probably damaging	Het
Crot	C	T	5: 9,028,208 (GRCm39)	R247Q	probably benign	Het
Cyp2b9	A	G	7: 25,898,035 (GRCm39)		probably benign	Het
Dcaf8	T	C	1: 172,021,427 (GRCm39)	W540R	probably benign	Het
Galnt11	T	C	5: 25,455,222 (GRCm39)	I186T	possibly damaging	Het
Gpr37	A	T	6: 25,688,201 (GRCm39)	F299I	probably benign	Het
Gpr37l1	C	T	1: 135,095,167 (GRCm39)	A26T	probably benign	Het
Grm4	A	G	17: 27,657,765 (GRCm39)	Y414H	probably damaging	Het
Kcnh1	T	C	1: 192,188,320 (GRCm39)	I954T	possibly damaging	Het
Lias	T	C	5: 65,561,552 (GRCm39)	Y308H	probably damaging	Het
Lrrc27	T	A	7: 138,796,515 (GRCm39)		probably benign	Het
Lrrc8a	C	T	2: 30,146,619 (GRCm39)	H478Y	probably benign	Het
Mdh2	T	A	5: 135,812,983 (GRCm39)		probably benign	Het
Mug1	T	A	6: 121,848,340 (GRCm39)	I688K	probably benign	Het
Nrp1	A	G	8: 129,207,420 (GRCm39)	D605G	probably benign	Het
Nt5dc3	A	G	10: 86,669,863 (GRCm39)	Y486C	possibly damaging	Het
Or5m13	T	A	2: 85,748,993 (GRCm39)	C241*	probably null	Het
Or8s16	A	T	15: 98,210,954 (GRCm39)	L159H	probably damaging	Het
Or9s23	T	A	1: 92,501,121 (GRCm39)	V76D	possibly damaging	Het
Pam	A	T	1: 97,762,127 (GRCm39)		probably benign	Het
Pcolce	A	G	5: 137,609,550 (GRCm39)	L14P	probably damaging	Het
Pcsk6	T	C	7: 65,581,481 (GRCm39)	I254T	probably benign	Het
Pdzrn3	A	T	6: 101,128,567 (GRCm39)	C700S	probably damaging	Het
Pglyrp2	A	G	17: 32,634,976 (GRCm39)	F462S	probably damaging	Het
Plaat3	T	A	19: 7,552,347 (GRCm39)	Y21N	possibly damaging	Het
Plekhm1	A	T	11: 103,285,778 (GRCm39)	L219Q	probably damaging	Het
Prkch	T	A	12: 73,632,018 (GRCm39)	S28T	possibly damaging	Het
Prrc2c	A	T	1: 162,507,081 (GRCm39)	S2529R	possibly damaging	Het
Prss3	G	T	6: 41,350,827 (GRCm39)	A221D	probably damaging	Het
Rbm33	T	A	5: 28,557,874 (GRCm39)		probably benign	Het
Retreg1	T	C	15: 25,968,493 (GRCm39)	L83S	probably damaging	Het
Robo2	C	T	16: 73,764,651 (GRCm39)		probably benign	Het
Slc25a47	T	A	12: 108,820,247 (GRCm39)	F84I	probably benign	Het
Sntb2	A	G	8: 107,728,320 (GRCm39)	I423V	probably benign	Het
Spart	A	T	3: 55,032,300 (GRCm39)	D378V	possibly damaging	Het
Spint2	A	T	7: 28,958,835 (GRCm39)	F127Y	probably damaging	Het
Stag3	A	G	5: 138,310,050 (GRCm39)	T1233A	probably benign	Het
Tenm3	A	G	8: 48,802,391 (GRCm39)	I390T	probably benign	Het
Tigd2	A	G	6: 59,187,184 (GRCm39)	D17G	probably damaging	Het
Tln2	C	A	9: 67,179,936 (GRCm39)	A812S	probably benign	Het
Tmem234	A	G	4: 129,501,317 (GRCm39)	T133A	probably benign	Het
Trnp1	A	G	4: 133,225,380 (GRCm39)	F130S	possibly damaging	Het
Tsr1	A	G	11: 74,794,652 (GRCm39)	S436G	probably benign	Het
Ttn	T	C	2: 76,541,032 (GRCm39)	I33985V	probably benign	Het
Usp34	A	C	11: 23,394,184 (GRCm39)	D2278A		Het
Vav3	T	A	3: 109,565,285 (GRCm39)	F727Y	probably benign	Het
Vcl	T	C	14: 21,060,236 (GRCm39)		probably null	Het
Vps13c	T	A	9: 67,880,685 (GRCm39)	D3507E	probably damaging	Het
Vtn	A	G	11: 78,391,090 (GRCm39)		probably benign	Het
Zfp319	A	G	8: 96,054,938 (GRCm39)	S422P	possibly damaging	Het

Other mutations in Gne

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01451:Gne	APN	4	44,041,860 (GRCm39)	splice site	probably null
IGL02028:Gne	APN	4	44,066,852 (GRCm39)	missense	probably damaging	1.00
IGL02106:Gne	APN	4	44,037,306 (GRCm39)	missense	probably damaging	1.00
IGL02216:Gne	APN	4	44,044,761 (GRCm39)	missense	probably benign	0.43
IGL03095:Gne	APN	4	44,055,211 (GRCm39)	missense	probably damaging	1.00
R0069:Gne	UTSW	4	44,060,099 (GRCm39)	missense	probably damaging	1.00
R0069:Gne	UTSW	4	44,060,099 (GRCm39)	missense	probably damaging	1.00
R0310:Gne	UTSW	4	44,060,157 (GRCm39)	nonsense	probably null
R0606:Gne	UTSW	4	44,042,244 (GRCm39)	missense	possibly damaging	0.55
R0658:Gne	UTSW	4	44,039,033 (GRCm39)	missense	possibly damaging	0.85
R1878:Gne	UTSW	4	44,040,434 (GRCm39)	missense	probably damaging	1.00
R2009:Gne	UTSW	4	44,055,273 (GRCm39)	missense	probably benign	0.00
R2338:Gne	UTSW	4	44,042,196 (GRCm39)	missense	probably damaging	0.99
R4043:Gne	UTSW	4	44,040,383 (GRCm39)	missense	possibly damaging	0.65
R4361:Gne	UTSW	4	44,059,947 (GRCm39)	missense	possibly damaging	0.63
R4725:Gne	UTSW	4	44,066,806 (GRCm39)	missense	probably benign	0.31
R4869:Gne	UTSW	4	44,055,204 (GRCm39)	critical splice donor site	probably null
R5511:Gne	UTSW	4	44,041,843 (GRCm39)	missense	probably damaging	0.99
R5797:Gne	UTSW	4	44,060,030 (GRCm39)	missense	probably damaging	1.00
R6016:Gne	UTSW	4	44,039,063 (GRCm39)	missense	probably damaging	0.99
R6176:Gne	UTSW	4	44,053,019 (GRCm39)	intron	probably benign
R6461:Gne	UTSW	4	44,060,078 (GRCm39)	missense	probably damaging	1.00
R6804:Gne	UTSW	4	44,060,210 (GRCm39)	missense	probably damaging	1.00
R7170:Gne	UTSW	4	44,040,361 (GRCm39)	missense	possibly damaging	0.95
R7191:Gne	UTSW	4	44,040,266 (GRCm39)	missense	probably benign	0.16
R7264:Gne	UTSW	4	44,042,175 (GRCm39)	missense	probably damaging	0.96
R7413:Gne	UTSW	4	44,044,857 (GRCm39)	missense	probably benign	0.06
R7956:Gne	UTSW	4	44,044,962 (GRCm39)	missense	probably benign	0.32
R8184:Gne	UTSW	4	44,084,061 (GRCm39)	missense	probably benign	0.07
R8981:Gne	UTSW	4	44,042,261 (GRCm39)	missense	probably benign	0.43
R9331:Gne	UTSW	4	44,066,845 (GRCm39)	missense	probably damaging	1.00
R9380:Gne	UTSW	4	44,066,807 (GRCm39)	missense	probably benign
RF012:Gne	UTSW	4	44,060,045 (GRCm39)	missense	probably damaging	1.00
RF014:Gne	UTSW	4	44,060,045 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGCTCGTGAGTCACCGAC -3'
(R):5'- ATGTGTATTGTCACGCTGCACTC -3'

Sequencing Primer
(F):5'- TCACCGACTGACTCGTGG -3'
(R):5'- TCAGCCAGAGCCTCGTG -3'

Posted On

2021-03-08