Mutagenetix > Incidental Mutation

Incidental Mutation 'R4043:Gne'

313912

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

041615-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4043 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44034075-44084177 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 44040383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 594 (C594G)

Ref Sequence

ENSEMBL: ENSMUSP00000030201 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030201] [ENSMUST00000102936] [ENSMUST00000172533] [ENSMUST00000173234]

AlphaFold

Q91WG8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030201
AA Change: C594G

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000030201
Gene: ENSMUSG00000028479
AA Change: C594G

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: C563G

PolyPhen 2 Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000100000
Gene: ENSMUSG00000028479
AA Change: C563G

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: ENSMUST00000172533

SMART Domains

Protein: ENSMUSP00000134040
Gene: ENSMUSG00000028479

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 benign
Transcript: ENSMUST00000173234
AA Change: C489G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000133521
Gene: ENSMUSG00000028479
AA Change: C489G

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 benign
Transcript: ENSMUST00000174522

Meta Mutation Damage Score

0.5861

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 92.9%

Validation Efficiency

97% (64/66)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf3	T	C	5: 30,409,360 (GRCm39)	N44D	probably benign	Het
AU018091	A	G	7: 3,208,962 (GRCm39)	F375L	probably damaging	Het
Bsph1	G	T	7: 13,192,201 (GRCm39)		probably null	Het
Casp1	A	G	9: 5,302,444 (GRCm39)	D122G	probably benign	Het
Ccdc146	C	T	5: 21,521,941 (GRCm39)	C361Y	probably benign	Het
Cdc37l1	T	C	19: 28,968,028 (GRCm39)	S31P	possibly damaging	Het
Cdca2	A	T	14: 67,941,455 (GRCm39)	M249K	probably benign	Het
Cfap73	C	T	5: 120,768,030 (GRCm39)		probably null	Het
Cgnl1	A	G	9: 71,612,575 (GRCm39)	L749S	probably damaging	Het
Cmtr2	C	A	8: 110,948,462 (GRCm39)	C257*	probably null	Het
Col6a4	A	T	9: 105,949,610 (GRCm39)	L675*	probably null	Het
Cpne8	A	T	15: 90,456,204 (GRCm39)	D186E	probably damaging	Het
Csmd3	A	G	15: 47,619,362 (GRCm39)		probably null	Het
Daglb	T	A	5: 143,472,906 (GRCm39)	Y354N	possibly damaging	Het
Dlgap1	T	C	17: 71,068,075 (GRCm39)	S549P	probably damaging	Het
Dnah11	T	C	12: 117,843,678 (GRCm39)	D4389G	probably damaging	Het
Dst	T	A	1: 34,229,765 (GRCm39)	C2631S	probably benign	Het
Gimap1	T	A	6: 48,720,176 (GRCm39)	W263R	probably damaging	Het
Gtf2a1	T	C	12: 91,542,441 (GRCm39)	H47R	probably benign	Het
Hdac6	T	C	X: 7,797,731 (GRCm39)	T993A	probably benign	Het
Helz2	T	C	2: 180,871,503 (GRCm39)	D2703G	probably benign	Het
Jmjd1c	G	A	10: 67,055,245 (GRCm39)	V222I	possibly damaging	Het
Katnip	A	G	7: 125,467,913 (GRCm39)	I1366V	probably benign	Het
Kndc1	A	G	7: 139,504,044 (GRCm39)	E1116G	probably benign	Het
Krt10	C	T	11: 99,277,819 (GRCm39)		probably null	Het
Lrrc37a	T	G	11: 103,389,479 (GRCm39)	H1982P	possibly damaging	Het
Med13l	T	A	5: 118,731,528 (GRCm39)	L68Q	probably damaging	Het
Megf10	C	A	18: 57,392,870 (GRCm39)	D422E	probably damaging	Het
Mpz	C	T	1: 170,987,340 (GRCm39)		probably benign	Het
Muc5ac	A	T	7: 141,361,215 (GRCm39)	T1508S	possibly damaging	Het
Myo3a	C	T	2: 22,338,350 (GRCm39)		probably benign	Het
Ndnf	A	T	6: 65,680,920 (GRCm39)	N400Y	possibly damaging	Het
Or5h24	G	A	16: 58,919,124 (GRCm39)	T77I	unknown	Het
Or6p1	T	C	1: 174,258,657 (GRCm39)	I221T	probably damaging	Het
Or7g35	G	T	9: 19,496,291 (GRCm39)	V153F	probably benign	Het
Otol1	A	G	3: 69,935,112 (GRCm39)	D368G	probably damaging	Het
Pappa	A	G	4: 65,232,824 (GRCm39)	N1321S	probably benign	Het
Patl1	T	A	19: 11,920,314 (GRCm39)	L756Q	probably damaging	Het
Plcg2	A	G	8: 118,339,717 (GRCm39)	M1043V	probably benign	Het
Plekhg2	G	A	7: 28,064,144 (GRCm39)		probably benign	Het
Ppp2r2d	G	A	7: 138,484,145 (GRCm39)	W265*	probably null	Het
Ppp4r3c1	A	G	X: 88,975,909 (GRCm39)	F96S	probably damaging	Het
Prss40	G	T	1: 34,599,960 (GRCm39)	S9*	probably null	Het
Radil	T	A	5: 142,479,988 (GRCm39)	I471F	probably benign	Het
Radx	C	T	X: 138,407,752 (GRCm39)	S364L	probably damaging	Het
Rpl10l	A	T	12: 66,330,977 (GRCm39)	M52K	probably damaging	Het
Scn1a	A	T	2: 66,156,380 (GRCm39)	S510T	possibly damaging	Het
Sdad1	T	G	5: 92,450,553 (GRCm39)	N194T	probably damaging	Het
Sel1l3	A	T	5: 53,345,396 (GRCm39)	Y259*	probably null	Het
Slc22a26	T	C	19: 7,765,694 (GRCm39)		probably null	Het
Snap91	C	T	9: 86,659,102 (GRCm39)	G477D	probably damaging	Het
Spata6l	A	T	19: 28,923,183 (GRCm39)	C80S	possibly damaging	Het
Srr	T	C	11: 74,799,947 (GRCm39)	T202A	probably benign	Het
Srrm1	C	T	4: 135,068,242 (GRCm39)		probably benign	Het
Trp53bp2	T	A	1: 182,276,626 (GRCm39)	L869Q	possibly damaging	Het
Ttbk1	T	A	17: 46,757,688 (GRCm39)	D982V	probably benign	Het
Ttn	T	C	2: 76,624,501 (GRCm39)	T15324A	probably benign	Het
Ush1c	T	C	7: 45,870,952 (GRCm39)	E276G	probably damaging	Het
Vcan	T	A	13: 89,840,662 (GRCm39)	L1627F	probably benign	Het
Vps8	A	C	16: 21,345,146 (GRCm39)	D823A	probably damaging	Het
Zfp616	T	A	11: 73,976,108 (GRCm39)	N792K	possibly damaging	Het
Zfpm2	A	T	15: 40,734,023 (GRCm39)	D2V	possibly damaging	Het
Zfyve16	A	C	13: 92,650,271 (GRCm39)		probably null	Het
Zmym2	T	A	14: 57,195,765 (GRCm39)		probably benign	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
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
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'- GCCATTCGGTTAGTGACTTCC -3'
(R):5'- CGAGACCTCAGAAGATGTGC -3'

Sequencing Primer
(F):5'- GTGACTTCCATAGGTGACAGATACC -3'
(R):5'- TCAATACAGGTTCAGTGCGC -3'

Posted On

2015-04-30