Mutagenetix > Incidental Mutation

Incidental Mutation 'R5035:Glmp'

389490

Institutional Source

Beutler Lab

Gene Symbol

Glmp

Ensembl Gene

ENSMUSG00000001418

Gene Name

glycosylated lysosomal membrane protein

Synonyms

NCU-G1, 0610031J06Rik

MMRRC Submission

042626-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5035 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88325023-88331313 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to C at 88326644 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135398 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001452] [ENSMUST00000001454] [ENSMUST00000001456] [ENSMUST00000107552] [ENSMUST00000107553] [ENSMUST00000131666] [ENSMUST00000154381] [ENSMUST00000164166] [ENSMUST00000176425] [ENSMUST00000177005] [ENSMUST00000176519]

AlphaFold

Q9JHJ3

Predicted Effect

probably benign
Transcript: ENSMUST00000001452

SMART Domains

Protein: ENSMUSP00000001452
Gene: ENSMUSG00000001416

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	33	527	3.2e-171	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000001454

SMART Domains

Protein: ENSMUSP00000001454
Gene: ENSMUSG00000001418

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
Pfam:NCU-G1	53	130	2.7e-26	PFAM
Pfam:NCU-G1	124	333	4.8e-77	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000001456

SMART Domains

Protein: ENSMUSP00000001456
Gene: ENSMUSG00000001420

Domain	Start	End	E-Value	Type
low complexity region	30	43	N/A	INTRINSIC
low complexity region	79	89	N/A	INTRINSIC
low complexity region	177	192	N/A	INTRINSIC
transmembrane domain	197	219	N/A	INTRINSIC
transmembrane domain	234	256	N/A	INTRINSIC
transmembrane domain	280	302	N/A	INTRINSIC
transmembrane domain	312	330	N/A	INTRINSIC
transmembrane domain	337	359	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107552

SMART Domains

Protein: ENSMUSP00000103176
Gene: ENSMUSG00000001420

Domain	Start	End	E-Value	Type
low complexity region	30	43	N/A	INTRINSIC
low complexity region	79	89	N/A	INTRINSIC
low complexity region	177	192	N/A	INTRINSIC
transmembrane domain	197	219	N/A	INTRINSIC
transmembrane domain	234	256	N/A	INTRINSIC
transmembrane domain	280	302	N/A	INTRINSIC
transmembrane domain	312	330	N/A	INTRINSIC
transmembrane domain	337	359	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107553

SMART Domains

Protein: ENSMUSP00000103177
Gene: ENSMUSG00000001420

Domain	Start	End	E-Value	Type
low complexity region	30	43	N/A	INTRINSIC
low complexity region	79	89	N/A	INTRINSIC
low complexity region	177	192	N/A	INTRINSIC
transmembrane domain	197	219	N/A	INTRINSIC
transmembrane domain	234	256	N/A	INTRINSIC
transmembrane domain	280	302	N/A	INTRINSIC
transmembrane domain	312	330	N/A	INTRINSIC
transmembrane domain	337	359	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131666

SMART Domains

Protein: ENSMUSP00000120235
Gene: ENSMUSG00000001418

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140039

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152801

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153716

Predicted Effect

probably benign
Transcript: ENSMUST00000154381

SMART Domains

Protein: ENSMUSP00000134809
Gene: ENSMUSG00000001418

Domain	Start	End	E-Value	Type
Pfam:NCU-G1	2	72	5.4e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164122

Predicted Effect

probably benign
Transcript: ENSMUST00000164166

SMART Domains

Protein: ENSMUSP00000126109
Gene: ENSMUSG00000001416

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	15	489	1.7e-144	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168971

SMART Domains

Protein: ENSMUSP00000131250
Gene: ENSMUSG00000001416

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	1	38	5.6e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176425

SMART Domains

Protein: ENSMUSP00000135575
Gene: ENSMUSG00000001418

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
Pfam:NCU-G1	37	314	3.3e-94	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177005

SMART Domains

Protein: ENSMUSP00000135398
Gene: ENSMUSG00000001418

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
Pfam:NCU-G1	54	397	1.1e-104	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193646

Predicted Effect

probably benign
Transcript: ENSMUST00000176519

SMART Domains

Protein: ENSMUSP00000135263
Gene: ENSMUSG00000001418

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
Pfam:NCU-G1	53	125	4.7e-26	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

98% (46/47)

MGI Phenotype

PHENOTYPE: Homozygous mutants for this allele displayed spontaneous development of liver fibrosis at 6 months and various hepatic cell phenotypes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	T	C	9: 53,583,510	I361V	probably benign	Het
Afp	A	G	5: 90,507,905	D583G	probably benign	Het
Bcas3	C	T	11: 85,543,945	A552V	probably damaging	Het
Bfsp2	T	G	9: 103,479,866	T121P	probably benign	Het
Bicra	C	T	7: 15,979,424	R951Q	possibly damaging	Het
Cdc40	G	A	10: 40,849,813	T220I	probably benign	Het
Cdk5rap3	T	C	11: 96,916,085		probably benign	Het
Clcnka	A	T	4: 141,395,158	Y179*	probably null	Het
Creb3l1	T	A	2: 91,987,086	I361F	probably benign	Het
Csmd3	T	C	15: 47,590,779	Y3557C	probably damaging	Het
Dab2ip	A	G	2: 35,709,941	S190G	probably benign	Het
Dbx1	T	C	7: 49,632,536	H307R	unknown	Het
Dock8	C	A	19: 25,086,207	P258T	probably damaging	Het
Eml6	T	C	11: 29,854,187	I305V	probably benign	Het
Frem3	T	A	8: 80,615,914	F1612Y	probably damaging	Het
Fubp1	A	G	3: 152,214,851	T76A	probably benign	Het
Gm20918	A	G	Y: 5,045,992	Q183R	probably benign	Het
Krt28	T	C	11: 99,366,824	N397S	probably benign	Het
Lin9	T	A	1: 180,669,198	L351I	probably benign	Het
Map3k13	T	C	16: 21,921,671	Y583H	probably benign	Het
Mcm3	A	T	1: 20,803,418		probably benign	Het
Misp	T	C	10: 79,827,956	V588A	probably benign	Het
Olfr1202	A	T	2: 88,818,099	K309N	probably benign	Het
Olfr348	A	G	2: 36,786,891	D122G	probably damaging	Het
Olfr373	T	A	8: 72,100,078	L106H	probably damaging	Het
Olfr644	G	A	7: 104,068,407	T208I	possibly damaging	Het
Olfr970	G	A	9: 39,820,094	A152T	possibly damaging	Het
Osbpl9	A	G	4: 109,066,167	F449L	probably damaging	Het
Pkhd1l1	A	G	15: 44,568,324	D3358G	probably damaging	Het
Prodh2	A	T	7: 30,506,479	S247C	possibly damaging	Het
Prr23a3	G	A	9: 98,865,130	E46K	possibly damaging	Het
Ptprz1	A	G	6: 23,016,215	I837V	probably benign	Het
Rabgap1l	A	C	1: 160,724,036	F263V	probably damaging	Het
Rnf4	A	G	5: 34,351,339	K182E	probably damaging	Het
Slc24a2	G	T	4: 87,011,706	R469S	possibly damaging	Het
Speer2	A	G	16: 69,857,941		probably null	Het
Tcrg-C4	G	T	13: 19,352,336	R188L	unknown	Het
Tg	C	A	15: 66,681,813		probably null	Het
Tns1	G	A	1: 73,953,820		probably benign	Het
Top2b	G	T	14: 16,409,966	A878S	probably benign	Het
Ugt3a2	G	A	15: 9,361,618	R160Q	probably benign	Het
Ush2a	G	T	1: 188,910,808	L4122F	probably damaging	Het

Other mutations in Glmp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Glmp	APN	3	88325862	splice site	probably null
IGL02551:Glmp	APN	3	88325082	start codon destroyed	probably null	0.53
IGL03212:Glmp	APN	3	88328357	missense	probably benign	0.01
R0325:Glmp	UTSW	3	88325084	start codon destroyed	probably null	0.72
R0719:Glmp	UTSW	3	88326145	nonsense	probably null
R0721:Glmp	UTSW	3	88326145	nonsense	probably null
R1617:Glmp	UTSW	3	88328119	splice site	probably benign
R1970:Glmp	UTSW	3	88327870	missense	probably damaging	1.00
R3824:Glmp	UTSW	3	88326411	missense	probably damaging	1.00
R3825:Glmp	UTSW	3	88326411	missense	probably damaging	1.00
R4521:Glmp	UTSW	3	88328039	missense	possibly damaging	0.60
R4697:Glmp	UTSW	3	88328274	missense	probably damaging	0.99
R4806:Glmp	UTSW	3	88326013	intron	probably benign
R4823:Glmp	UTSW	3	88325223	intron	probably benign
R5043:Glmp	UTSW	3	88326676	intron	probably benign
R5335:Glmp	UTSW	3	88326655	intron	probably benign
R5592:Glmp	UTSW	3	88326026	intron	probably benign
R5738:Glmp	UTSW	3	88326138	missense	probably benign	0.06
R5921:Glmp	UTSW	3	88325976	missense	probably benign	0.09
R6046:Glmp	UTSW	3	88325188	missense	probably damaging	0.96
R6103:Glmp	UTSW	3	88328031	missense	probably benign	0.02
R6859:Glmp	UTSW	3	88328042	missense	probably benign	0.30
R6943:Glmp	UTSW	3	88326610	missense	probably damaging	1.00
R6945:Glmp	UTSW	3	88325832	missense	probably benign	0.02
R7204:Glmp	UTSW	3	88326610	missense	probably damaging	1.00
R7770:Glmp	UTSW	3	88325770	missense	probably benign	0.39
R8022:Glmp	UTSW	3	88326520	missense	probably damaging	1.00
R8079:Glmp	UTSW	3	88325738	missense	probably damaging	0.98
R8296:Glmp	UTSW	3	88326273	missense	probably benign	0.16
R8986:Glmp	UTSW	3	88325695	missense	probably benign	0.28
R9266:Glmp	UTSW	3	88325729	missense	probably damaging	0.98
R9335:Glmp	UTSW	3	88328256	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TTTTCTAGATCTGGTCGACCTG -3'
(R):5'- ACTGACTGTAGCTCTAGTTCCGG -3'

Sequencing Primer
(F):5'- TAGATCTGGTCGACCTGCTCAG -3'
(R):5'- GGGGATTTGGCACCTTCACAG -3'

Posted On

2016-06-06