Mutagenetix > Incidental Mutation

Incidental Mutation 'R0721:Glmp'

63536

Institutional Source

Beutler Lab

Gene Symbol

Glmp

Ensembl Gene

ENSMUSG00000001418

Gene Name

glycosylated lysosomal membrane protein

Synonyms

0610031J06Rik, NCU-G1

MMRRC Submission

038903-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0721 (G1)

Quality Score

106

Status

Not validated

Chromosome

Chromosomal Location

88232330-88235938 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 88233452 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 136 (E136*)

Ref Sequence

ENSEMBL: ENSMUSP00000135398 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001452] [ENSMUST00000001454] [ENSMUST00000001456] [ENSMUST00000107552] [ENSMUST00000107553] [ENSMUST00000131666] [ENSMUST00000177005] [ENSMUST00000176425] [ENSMUST00000164166] [ENSMUST00000154381] [ENSMUST00000176519] [ENSMUST00000168062]

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

probably null
Transcript: ENSMUST00000177005
AA Change: E136*

SMART Domains

Protein: ENSMUSP00000135398
Gene: ENSMUSG00000001418
AA Change: E136*

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

Predicted Effect

probably null
Transcript: ENSMUST00000176425
AA Change: E51*

SMART Domains

Protein: ENSMUSP00000135575
Gene: ENSMUSG00000001418
AA Change: E51*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167718

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193646

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152801

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153716

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167000

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: ENSMUST00000154381

SMART Domains

Protein: ENSMUSP00000134809
Gene: ENSMUSG00000001418

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

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

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: ENSMUST00000168062

SMART Domains

Protein: ENSMUSP00000131113
Gene: ENSMUSG00000001416

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	33	520	2.3e-157	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.0%

Validation Efficiency

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: 5 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccdc110	A	T	8: 46,395,026 (GRCm39)	M306L	probably benign	Het
Cyp4f18	A	G	8: 72,754,979 (GRCm39)	V117A	probably benign	Het
Myrf	C	T	19: 10,193,444 (GRCm39)	V773M	probably damaging	Het
Plb1	T	A	5: 32,521,539 (GRCm39)	S1463R	unknown	Het
Tmcc1	C	CAT	6: 116,019,831 (GRCm39)		probably null	Het

Other mutations in Glmp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Glmp	APN	3	88,233,169 (GRCm39)	splice site	probably null
IGL02551:Glmp	APN	3	88,232,389 (GRCm39)	start codon destroyed	probably null	0.53
IGL03212:Glmp	APN	3	88,235,664 (GRCm39)	missense	probably benign	0.01
R0325:Glmp	UTSW	3	88,232,391 (GRCm39)	start codon destroyed	probably null	0.72
R0719:Glmp	UTSW	3	88,233,452 (GRCm39)	nonsense	probably null
R1617:Glmp	UTSW	3	88,235,426 (GRCm39)	splice site	probably benign
R1970:Glmp	UTSW	3	88,235,177 (GRCm39)	missense	probably damaging	1.00
R3824:Glmp	UTSW	3	88,233,718 (GRCm39)	missense	probably damaging	1.00
R3825:Glmp	UTSW	3	88,233,718 (GRCm39)	missense	probably damaging	1.00
R4521:Glmp	UTSW	3	88,235,346 (GRCm39)	missense	possibly damaging	0.60
R4697:Glmp	UTSW	3	88,235,581 (GRCm39)	missense	probably damaging	0.99
R4806:Glmp	UTSW	3	88,233,320 (GRCm39)	intron	probably benign
R4823:Glmp	UTSW	3	88,232,530 (GRCm39)	intron	probably benign
R5035:Glmp	UTSW	3	88,233,951 (GRCm39)	splice site	probably benign
R5043:Glmp	UTSW	3	88,233,983 (GRCm39)	intron	probably benign
R5335:Glmp	UTSW	3	88,233,962 (GRCm39)	intron	probably benign
R5592:Glmp	UTSW	3	88,233,333 (GRCm39)	intron	probably benign
R5738:Glmp	UTSW	3	88,233,445 (GRCm39)	missense	probably benign	0.06
R5921:Glmp	UTSW	3	88,233,283 (GRCm39)	missense	probably benign	0.09
R6046:Glmp	UTSW	3	88,232,495 (GRCm39)	missense	probably damaging	0.96
R6103:Glmp	UTSW	3	88,235,338 (GRCm39)	missense	probably benign	0.02
R6859:Glmp	UTSW	3	88,235,349 (GRCm39)	missense	probably benign	0.30
R6943:Glmp	UTSW	3	88,233,917 (GRCm39)	missense	probably damaging	1.00
R6945:Glmp	UTSW	3	88,233,139 (GRCm39)	missense	probably benign	0.02
R7204:Glmp	UTSW	3	88,233,917 (GRCm39)	missense	probably damaging	1.00
R7770:Glmp	UTSW	3	88,233,077 (GRCm39)	missense	probably benign	0.39
R8022:Glmp	UTSW	3	88,233,827 (GRCm39)	missense	probably damaging	1.00
R8079:Glmp	UTSW	3	88,233,045 (GRCm39)	missense	probably damaging	0.98
R8296:Glmp	UTSW	3	88,233,580 (GRCm39)	missense	probably benign	0.16
R8986:Glmp	UTSW	3	88,233,002 (GRCm39)	missense	probably benign	0.28
R9266:Glmp	UTSW	3	88,233,036 (GRCm39)	missense	probably damaging	0.98
R9335:Glmp	UTSW	3	88,235,563 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCCCCAAGAGCAGCATACAGTTTTC -3'
(R):5'- AGCTTGAGGGACAGATACTCCCAC -3'

Sequencing Primer
(F):5'- GAGCAGCATACAGTTTTCTTCTG -3'
(R):5'- ACCCTCATCAGTCATTTCCAG -3'

Posted On

2013-07-30