Mutagenetix > Incidental Mutation

Incidental Mutation 'R6461:Gne'

517601

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

044390-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6461 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44034075-44084177 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44060078 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 105 (D105G)

Ref Sequence

ENSEMBL: ENSMUSP00000133521 (fasta)

Gene Model

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

AlphaFold

Q91WG8

Predicted Effect

probably damaging
Transcript: ENSMUST00000030201
AA Change: D136G

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

SMART Domains

Protein: ENSMUSP00000030201
Gene: ENSMUSG00000028479
AA Change: D136G

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 damaging
Transcript: ENSMUST00000102936
AA Change: D105G

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

SMART Domains

Protein: ENSMUSP00000100000
Gene: ENSMUSG00000028479
AA Change: D105G

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: D144G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000118443
Gene: ENSMUSG00000028479
AA Change: D144G

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: ENSMUST00000172533
AA Change: D105G

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

SMART Domains

Protein: ENSMUSP00000134040
Gene: ENSMUSG00000028479
AA Change: D105G

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: D105G

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

SMART Domains

Protein: ENSMUSP00000133521
Gene: ENSMUSG00000028479
AA Change: D105G

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: D105G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134406
Gene: ENSMUSG00000028479
AA Change: D105G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000173383
AA Change: D105G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133440
Gene: ENSMUSG00000028479
AA Change: D105G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173976

Predicted Effect

probably benign
Transcript: ENSMUST00000174522

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173569

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.1%

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb3	T	A	10: 85,476,428 (GRCm39)	I903N	probably damaging	Het
Atp12a	C	T	14: 56,610,695 (GRCm39)	R280C	probably damaging	Het
Dnmbp	A	G	19: 43,855,964 (GRCm39)		probably null	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fbxo40	T	C	16: 36,790,390 (GRCm39)	E240G	probably benign	Het
Grin2c	A	T	11: 115,146,522 (GRCm39)	M494K	possibly damaging	Het
Hnrnpk	A	G	13: 58,541,008 (GRCm39)		probably null	Het
Irf6	G	C	1: 192,849,779 (GRCm39)	G234R	probably damaging	Het
Lman2	A	G	13: 55,494,728 (GRCm39)	F347L	probably damaging	Het
Mcfd2	G	A	17: 87,565,494 (GRCm39)	T3I	probably benign	Het
Mon1b	A	G	8: 114,365,170 (GRCm39)	D166G	probably damaging	Het
Mup10	T	A	4: 60,538,078 (GRCm39)	M4L	unknown	Het
Or13c7b	T	C	4: 43,821,355 (GRCm39)	E2G	probably benign	Het
Or2h1b	C	T	17: 37,462,362 (GRCm39)	C167Y	probably damaging	Het
Or51s1	T	A	7: 102,558,235 (GRCm39)	R270S	possibly damaging	Het
Papln	A	G	12: 83,828,587 (GRCm39)		probably null	Het
Pelp1	A	T	11: 70,287,132 (GRCm39)	V522E	probably damaging	Het
Scn1a	T	C	2: 66,156,466 (GRCm39)	D481G	probably null	Het
Scube1	G	A	15: 83,496,628 (GRCm39)	T791I	probably damaging	Het
Sec24a	T	C	11: 51,604,373 (GRCm39)	I748V	possibly damaging	Het
Slc29a2	A	G	19: 5,077,768 (GRCm39)	T236A	probably benign	Het
Smarca4	T	A	9: 21,590,316 (GRCm39)	I1152N	probably damaging	Het
Syngap1	A	G	17: 27,183,822 (GRCm39)	I1026V	probably damaging	Het
Tnxb	G	T	17: 34,890,872 (GRCm39)	R405L	probably damaging	Het
Zbtb11	G	A	16: 55,827,234 (GRCm39)	R900H	probably damaging	Het
Zfp142	T	C	1: 74,606,344 (GRCm39)	K1639R	probably 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
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'- AGAGATCAGGTGCTGCTCTG -3'
(R):5'- TCACTTCAGGGCTAGCATTG -3'

Sequencing Primer
(F):5'- TGCTGCTCTGCACTTCTAG -3'
(R):5'- CTTATATAAGAACACGGTGTCCCG -3'

Posted On

2018-05-21