Mutagenetix > Incidental Mutation

Incidental Mutation 'R5797:Gne'

447263

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

043209-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5797 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44034075-44084177 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44060030 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 121 (T121M)

Ref Sequence

ENSEMBL: ENSMUSP00000133521 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030201] [ENSMUST00000102936] [ENSMUST00000128439] [ENSMUST00000133709] [ENSMUST00000140724] [ENSMUST00000144985] [ENSMUST00000173383] [ENSMUST00000172533] [ENSMUST00000173234] [ENSMUST00000173274]

AlphaFold

Q91WG8

Predicted Effect

probably damaging
Transcript: ENSMUST00000030201
AA Change: T152M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000030201
Gene: ENSMUSG00000028479
AA Change: T152M

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

possibly damaging
Transcript: ENSMUST00000102936
AA Change: T121M

PolyPhen 2 Score 0.453 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000100000
Gene: ENSMUSG00000028479
AA Change: T121M

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 damaging
Transcript: ENSMUST00000144985
AA Change: T160M

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000118443
Gene: ENSMUSG00000028479
AA Change: T160M

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172514

Predicted Effect

probably damaging
Transcript: ENSMUST00000173383
AA Change: T121M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133440
Gene: ENSMUSG00000028479
AA Change: T121M

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172533
AA Change: T121M

PolyPhen 2 Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000134040
Gene: ENSMUSG00000028479
AA Change: T121M

Domain	Start	End	E-Value	Type
Pfam:Epimerase_2	32	375	1.6e-75	PFAM
PDB:3EO3\|C	406	471	2e-33	PDB
SCOP:d1bu6o1	410	462	1e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000173234
AA Change: T121M

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

SMART Domains

Protein: ENSMUSP00000133521
Gene: ENSMUSG00000028479
AA Change: T121M

Domain	Start	End	E-Value	Type
Pfam:Epimerase_2	32	375	3.9e-75	PFAM
Pfam:ROK	453	522	1.6e-16	PFAM
low complexity region	611	633	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000173274
AA Change: T121M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134406
Gene: ENSMUSG00000028479
AA Change: T121M

Domain	Start	End	E-Value	Type
Pfam:Epimerase_2	32	292	2.5e-54	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173569

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173976

Predicted Effect

probably benign
Transcript: ENSMUST00000174522

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	T	C	3: 40,887,986 (GRCm39)	F277L	probably benign	Het
Acsf2	A	G	11: 94,462,505 (GRCm39)	V170A	probably damaging	Het
Amz2	G	T	11: 109,317,905 (GRCm39)		probably benign	Het
Atp4a	A	G	7: 30,412,074 (GRCm39)	Y65C	probably damaging	Het
Canx	T	C	11: 50,191,844 (GRCm39)	I356V	probably benign	Het
Cfap54	T	A	10: 92,803,438 (GRCm39)	T1535S	probably benign	Het
Cts3	A	T	13: 61,716,206 (GRCm39)	W52R	probably damaging	Het
Cyb5rl	A	T	4: 106,941,404 (GRCm39)	E276D	possibly damaging	Het
Dhx30	T	C	9: 109,927,888 (GRCm39)	N78S	probably damaging	Het
Dmap1	A	T	4: 117,532,677 (GRCm39)	V333E	possibly damaging	Het
Dnah10	A	G	5: 124,898,450 (GRCm39)	E3744G	probably benign	Het
Efcab6	C	T	15: 83,808,478 (GRCm39)	C828Y	possibly damaging	Het
Fam227b	A	C	2: 125,849,254 (GRCm39)	I326S	probably benign	Het
Fbrs	C	A	7: 127,086,463 (GRCm39)	H604Q	probably damaging	Het
Fshr	T	G	17: 89,318,503 (GRCm39)	N129T	probably damaging	Het
Gja3	T	C	14: 57,273,170 (GRCm39)	R401G	probably damaging	Het
Gm572	G	A	4: 148,751,255 (GRCm39)	M209I	probably benign	Het
Gnmt	T	C	17: 47,037,305 (GRCm39)	N160D	probably damaging	Het
Kalrn	T	C	16: 34,032,619 (GRCm39)	Y1125C	probably damaging	Het
Kif2a	A	T	13: 107,111,884 (GRCm39)	C524S	probably damaging	Het
Kl	A	G	5: 150,915,003 (GRCm39)	N910S	possibly damaging	Het
Lrrtm2	C	T	18: 35,346,759 (GRCm39)	R181H	probably damaging	Het
Mkln1	A	G	6: 31,410,004 (GRCm39)	D214G	probably benign	Het
Muc5b	C	A	7: 141,405,319 (GRCm39)	T909N	unknown	Het
Myh13	T	A	11: 67,225,828 (GRCm39)	D335E	possibly damaging	Het
Myo5b	A	G	18: 74,834,592 (GRCm39)	E884G	probably benign	Het
Naip1	T	C	13: 100,581,034 (GRCm39)	D71G	possibly damaging	Het
Nxpe4	T	A	9: 48,307,838 (GRCm39)	I314N	possibly damaging	Het
Pcnt	T	C	10: 76,228,590 (GRCm39)	E1525G	probably benign	Het
Pkd1	T	A	17: 24,811,615 (GRCm39)	H153Q	possibly damaging	Het
Prkdc	T	A	16: 15,555,698 (GRCm39)	Y2157*	probably null	Het
Scd3	T	C	19: 44,203,950 (GRCm39)	I46T	probably benign	Het
Sdha	A	T	13: 74,482,476 (GRCm39)	M279K	probably damaging	Het
Slco4c1	A	G	1: 96,746,829 (GRCm39)	V671A	probably benign	Het
Slitrk3	T	A	3: 72,955,962 (GRCm39)	T937S	probably damaging	Het
Sncaip	A	T	18: 53,031,276 (GRCm39)	T442S	probably benign	Het
Sptb	T	C	12: 76,650,473 (GRCm39)	D1748G	possibly damaging	Het
Trmt9b	A	T	8: 36,965,569 (GRCm39)	K30*	probably null	Het
Vmn2r12	A	T	5: 109,233,736 (GRCm39)	C825*	probably null	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
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
R8734:Gne	UTSW	4	44,072,911 (GRCm39)	unclassified	probably benign
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'- GTTTGTCATAGGAAGGGCAGCC -3'
(R):5'- AACACATACCGCATGATTGAGC -3'

Sequencing Primer
(F):5'- TGCCAACAGGATGCGGTC -3'
(R):5'- CGCATGATTGAGCAAGATGACTTTG -3'

Posted On

2016-12-15