Mutagenetix > Incidental Mutation

Incidental Mutation 'R6176:Gne'

501830

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

044318-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6176 (G1)

Quality Score

162.009

Status

Validated

Chromosome

Chromosomal Location

44034075-44084177 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 44053019 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

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: ENSMUST00000133709

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

SMART Domains

Protein: ENSMUSP00000133521
Gene: ENSMUSG00000028479

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: ENSMUST00000173274

SMART Domains

Protein: ENSMUSP00000134406
Gene: ENSMUSG00000028479

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173976

Predicted Effect

probably benign
Transcript: ENSMUST00000174522

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

97% (60/62)

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
Akna	T	C	4: 63,295,969 (GRCm39)	Q966R	probably benign	Het
Amn	A	G	12: 111,240,590 (GRCm39)	D74G	possibly damaging	Het
Ank2	T	A	3: 126,739,120 (GRCm39)	T2255S	probably benign	Het
Ankfy1	G	A	11: 72,645,285 (GRCm39)	C788Y	probably benign	Het
Apaf1	A	G	10: 90,895,433 (GRCm39)		probably null	Het
Asl	T	A	5: 130,047,720 (GRCm39)	H82L	probably benign	Het
Atrn	A	G	2: 130,788,011 (GRCm39)	E271G	probably benign	Het
B4galnt3	A	G	6: 120,201,125 (GRCm39)	F184S	probably damaging	Het
C1s2	T	A	6: 124,602,768 (GRCm39)	H481L	probably damaging	Het
Cav2	A	G	6: 17,286,918 (GRCm39)	D58G	possibly damaging	Het
Cc2d2a	A	T	5: 43,866,455 (GRCm39)	H755L	probably benign	Het
Ccdc65	A	G	15: 98,606,433 (GRCm39)		probably null	Het
Celsr3	A	T	9: 108,705,554 (GRCm39)	Y679F	probably damaging	Het
Cep135	A	T	5: 76,772,490 (GRCm39)	Y625F	probably benign	Het
Cfhr1	A	G	1: 139,478,654 (GRCm39)	S58P	probably damaging	Het
Clip4	T	A	17: 72,113,628 (GRCm39)	C259*	probably null	Het
Cyp2j12	T	A	4: 96,029,074 (GRCm39)	Q69L	probably damaging	Het
Dock3	G	A	9: 106,790,147 (GRCm39)	T1484I	probably benign	Het
Ecscr	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	18: 35,849,813 (GRCm39)		probably benign	Het
Efcab3	A	T	11: 104,683,383 (GRCm39)	I1604F	probably benign	Het
Fam43b	T	C	4: 138,122,522 (GRCm39)	D266G	probably damaging	Het
Fbxl13	T	A	5: 21,705,498 (GRCm39)	I618F	possibly damaging	Het
Gnpat	T	A	8: 125,605,593 (GRCm39)	V321E	probably damaging	Het
Gpatch8	G	A	11: 102,378,350 (GRCm39)	A200V	unknown	Het
Grid1	C	A	14: 35,284,504 (GRCm39)	A749E	probably benign	Het
Grip2	C	T	6: 91,756,832 (GRCm39)	V540I	probably benign	Het
Ice2	C	T	9: 69,324,354 (GRCm39)	T759M	probably damaging	Het
Jrk	G	T	15: 74,578,189 (GRCm39)	N365K	possibly damaging	Het
Kank4	A	G	4: 98,653,791 (GRCm39)	I879T	probably damaging	Het
Krtap20-1	T	A	16: 88,812,288 (GRCm39)	Y24*	probably null	Het
Lao1	T	A	4: 118,819,197 (GRCm39)	M1K	probably null	Het
Mlf1	A	G	3: 67,291,927 (GRCm39)	R31G	probably damaging	Het
Nt5c3b	T	C	11: 100,330,974 (GRCm39)		probably benign	Het
Nusap1	A	G	2: 119,460,902 (GRCm39)	R132G	probably benign	Het
Or11g1	A	G	14: 50,651,847 (GRCm39)	Y282C	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or5w20	G	A	2: 87,727,280 (GRCm39)	V254I	probably benign	Het
Or8d2b	A	C	9: 38,788,673 (GRCm39)	D67A	probably damaging	Het
Paqr9	G	T	9: 95,442,828 (GRCm39)	V273L	possibly damaging	Het
Pcdha9	A	T	18: 37,131,984 (GRCm39)	D351V	probably benign	Het
Pcdhga1	A	G	18: 37,797,282 (GRCm39)	D762G	probably benign	Het
Pde3a	T	A	6: 141,444,615 (GRCm39)	L1141Q	possibly damaging	Het
Pga5	T	A	19: 10,649,149 (GRCm39)		probably null	Het
Phldb3	C	A	7: 24,326,127 (GRCm39)	R570S	probably damaging	Het
Slc22a6	A	C	19: 8,599,161 (GRCm39)	E264A	probably damaging	Het
Slc49a4	C	T	16: 35,525,167 (GRCm39)	M426I	probably benign	Het
Slit1	T	C	19: 41,626,034 (GRCm39)	K576R	probably damaging	Het
Sox21	T	C	14: 118,473,040 (GRCm39)	K3R	possibly damaging	Het
Stk32c	A	T	7: 138,700,691 (GRCm39)	D297E	probably benign	Het
Suclg1	T	C	6: 73,252,326 (GRCm39)	V323A	probably damaging	Het
Tas1r2	T	G	4: 139,396,199 (GRCm39)	C513G	probably damaging	Het
Tbc1d23	A	G	16: 56,992,152 (GRCm39)	Y603H	probably damaging	Het
Tbc1d31	T	C	15: 57,816,192 (GRCm39)	V642A	probably damaging	Het
Tle2	A	T	10: 81,423,168 (GRCm39)	D486V	probably damaging	Het
Tmem232	A	G	17: 65,792,867 (GRCm39)	I110T	probably damaging	Het
Tmem39b	A	G	4: 129,586,894 (GRCm39)	Y106H	probably damaging	Het
Trpm4	T	G	7: 44,976,100 (GRCm39)	N229T	probably damaging	Het
Tspo	A	G	15: 83,458,007 (GRCm39)	T120A	probably benign	Het
Ttc28	G	A	5: 111,371,851 (GRCm39)	A767T	probably damaging	Het
Usp53	G	A	3: 122,727,652 (GRCm39)	Q977*	probably null	Het
Vmn1r215	T	A	13: 23,260,528 (GRCm39)	D189E	probably damaging	Het
Vmn2r12	T	C	5: 109,233,866 (GRCm39)	Y782C	probably benign	Het
Vmn2r54	A	G	7: 12,349,908 (GRCm39)	L558P	probably damaging	Het
Zfp268	T	A	4: 145,350,628 (GRCm39)	C688*	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
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
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'- GCTATTCCCAATCATGCAGCC -3'
(R):5'- TTGTGCGGAAAGTTTATACAGAGG -3'

Sequencing Primer
(F):5'- AATTGGGGTGATGCTCGA -3'
(R):5'- TGCTAAGTTCTAATTGAAACCCCC -3'

Posted On

2017-12-04