Mutagenetix > Incidental Mutation

Incidental Mutation 'R3824:Glmp'

275258

Institutional Source

Beutler Lab

Gene Symbol

Glmp

Ensembl Gene

ENSMUSG00000001418

Gene Name

glycosylated lysosomal membrane protein

Synonyms

NCU-G1, 0610031J06Rik

MMRRC Submission

040885-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3824 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88325023-88331313 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 88326411 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 107 (V107I)

Ref Sequence

ENSEMBL: ENSMUSP00000135575 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001452] [ENSMUST00000001454] [ENSMUST00000001456] [ENSMUST00000107552] [ENSMUST00000107553] [ENSMUST00000131666] [ENSMUST00000154381] [ENSMUST00000177005] [ENSMUST00000176425] [ENSMUST00000176519] [ENSMUST00000164166] [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 damaging
Transcript: ENSMUST00000001454
AA Change: V126I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000001454
Gene: ENSMUSG00000001418
AA Change: V126I

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

possibly damaging
Transcript: ENSMUST00000177005
AA Change: V192I

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135398
Gene: ENSMUSG00000001418
AA Change: V192I

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 damaging
Transcript: ENSMUST00000176425
AA Change: V107I

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

SMART Domains

Protein: ENSMUSP00000135575
Gene: ENSMUSG00000001418
AA Change: V107I

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: ENSMUST00000193646

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167000

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167718

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164122

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: 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: ENSMUST00000168062

SMART Domains

Protein: ENSMUSP00000131113
Gene: ENSMUSG00000001416

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

Meta Mutation Damage Score

0.1363

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (62/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	C	17: 35,567,611	C20R	probably benign	Het
6030468B19Rik	A	G	11: 117,802,913	K69E	probably damaging	Het
9430015G10Rik	T	A	4: 156,119,150		probably null	Het
A2ml1	A	G	6: 128,568,763	V467A	probably damaging	Het
Abcc3	T	C	11: 94,368,620		probably null	Het
Acad10	A	T	5: 121,622,818	M941K	probably benign	Het
Agrn	A	G	4: 156,169,302	L1649P	probably damaging	Het
Arhgap12	T	C	18: 6,061,930	R402G	possibly damaging	Het
Atp4b	T	C	8: 13,393,549	Y43C	probably damaging	Het
Btn2a2	T	A	13: 23,480,465	T308S	probably benign	Het
C8b	G	T	4: 104,783,009	A170S	probably benign	Het
Cabyr	T	A	18: 12,751,690	D411E	probably benign	Het
Capn3	T	C	2: 120,484,483		probably benign	Het
Cd200r4	T	C	16: 44,820,950	F19L	probably benign	Het
Cflar	T	A	1: 58,735,697	Y218N	probably benign	Het
Col11a2	T	C	17: 34,054,180	Y630H	probably damaging	Het
Coq6	T	C	12: 84,372,415		probably benign	Het
Drg2	A	G	11: 60,459,508	T98A	possibly damaging	Het
Fam205c	A	G	4: 42,873,492		probably null	Het
Fry	T	A	5: 150,496,419	S1015R	possibly damaging	Het
Gjb4	A	G	4: 127,351,429	S240P	probably benign	Het
Gls	A	C	1: 52,232,988	M2R	possibly damaging	Het
Gm13078	A	T	4: 143,726,685	H121L	probably benign	Het
Gm5724	T	C	6: 141,754,374	Q144R	possibly damaging	Het
Gm906	G	A	13: 50,245,512	S926F	possibly damaging	Het
Igfbp4	A	G	11: 99,048,235	E27G	probably damaging	Het
Ints8	A	T	4: 11,225,621	Y645*	probably null	Het
Kat6a	G	T	8: 22,862,364	V55F	probably damaging	Het
Kat8	T	A	7: 127,924,482	D292E	possibly damaging	Het
Myo19	T	A	11: 84,885,679	C54S	probably damaging	Het
Myo5b	C	T	18: 74,661,655	H532Y	probably benign	Het
Nckap1	T	C	2: 80,540,560	K357E	possibly damaging	Het
Ndufaf1	C	T	2: 119,660,271	V105M	probably benign	Het
Olfr1076	T	G	2: 86,509,023	L188R	possibly damaging	Het
Olfr1394	A	G	11: 49,160,793	S260G	possibly damaging	Het
Olfr888	A	T	9: 38,108,838	I51F	possibly damaging	Het
Olfr895	T	G	9: 38,268,518	S2A	probably benign	Het
Olfr904	T	A	9: 38,464,526	C162S	probably benign	Het
Palld	T	C	8: 61,709,033	D439G	probably damaging	Het
Pcf11	T	C	7: 92,659,620		probably benign	Het
Pigo	A	T	4: 43,020,909	W678R	possibly damaging	Het
Pip5kl1	A	T	2: 32,583,271		probably null	Het
Plscr3	G	A	11: 69,850,138	V267M	probably benign	Het
Prom2	A	G	2: 127,535,673		probably benign	Het
Ptk7	A	G	17: 46,565,378	I1049T	probably damaging	Het
Ptprb	A	T	10: 116,350,789	I1743F	probably benign	Het
Ptprm	A	G	17: 66,809,575	V894A	probably benign	Het
Rack1	A	G	11: 48,802,304	T105A	probably benign	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Sdk1	A	G	5: 141,936,049	T267A	probably benign	Het
Sorcs3	T	A	19: 48,722,956	D653E	probably damaging	Het
St8sia1	A	G	6: 142,829,025	L276P	probably damaging	Het
Sync	T	C	4: 129,294,363	V396A	possibly damaging	Het
Taok3	A	G	5: 117,255,937	T592A	probably benign	Het
Tas2r104	T	A	6: 131,685,039	I236F	possibly damaging	Het
Tas2r107	A	C	6: 131,659,330	I252S	probably benign	Het
Tmem259	T	C	10: 79,978,448	N334S	possibly damaging	Het
Tsga10	A	T	1: 37,834,197	N200K	possibly damaging	Het
Usp24	G	A	4: 106,379,066	V984I	probably benign	Het
Vmn1r189	T	A	13: 22,102,212	T152S	probably benign	Het
Vmn1r2	A	T	4: 3,172,413	T111S	probably damaging	Het
Vmn2r74	T	G	7: 85,958,258	N86H	probably damaging	Het
Zfp12	T	C	5: 143,240,322	V72A	probably benign	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
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
R5035:Glmp	UTSW	3	88326644	splice site	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'- ATCTTGCCAACCTGAGTGCC -3'
(R):5'- GGAAGACGGCAGGTGCATATTC -3'

Sequencing Primer
(F):5'- CAACCTGAGTGCCGATTTTCAAGG -3'
(R):5'- GACGGCAGGTGCATATTCATCATC -3'

Posted On

2015-04-02