Mutagenetix > Incidental Mutation

Incidental Mutation 'R4521:Glmp'

334210

Institutional Source

Beutler Lab

Gene Symbol

Glmp

Ensembl Gene

ENSMUSG00000001418

Gene Name

glycosylated lysosomal membrane protein

Synonyms

NCU-G1, 0610031J06Rik

MMRRC Submission

041764-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4521 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88325023-88331313 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 88328039 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 259 (N259K)

Ref Sequence

ENSEMBL: ENSMUSP00000001454 (fasta)

Gene Model

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

AlphaFold

Q9JHJ3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001454
AA Change: N259K

PolyPhen 2 Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000001454
Gene: ENSMUSG00000001418
AA Change: N259K

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: ENSMUST00000176425
AA Change: N240K

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000135575
Gene: ENSMUSG00000001418
AA Change: N240K

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: 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: ENSMUST00000177005
AA Change: N325K

PolyPhen 2 Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000135398
Gene: ENSMUSG00000001418
AA Change: N325K

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (49/49)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ascc3	A	G	10: 50,660,670	N700D	probably benign	Het
Bora	G	T	14: 99,068,548	S451I	probably damaging	Het
Cadm3	A	T	1: 173,345,063		probably null	Het
Car14	A	G	3: 95,904,378		probably benign	Het
Ccdc88c	G	T	12: 100,913,332	S1843R	possibly damaging	Het
Cdc20b	A	G	13: 113,081,191	I381M	probably damaging	Het
Col12a1	C	T	9: 79,633,357	V2449I	probably benign	Het
Crb2	T	C	2: 37,795,337		probably benign	Het
Dcaf6	A	T	1: 165,390,490	D347E	probably damaging	Het
Dlgap2	G	A	8: 14,727,871	R372H	probably damaging	Het
Fat3	T	C	9: 15,922,942	N4118S	probably null	Het
Fbxo41	A	G	6: 85,484,042	I228T	probably damaging	Het
Fpr2	A	C	17: 17,893,247	R168S	probably benign	Het
Ghr	A	G	15: 3,325,958	I281T	probably damaging	Het
Grhl3	T	C	4: 135,546,250	K564E	probably damaging	Het
Helz2	T	C	2: 181,228,833	H2875R	probably benign	Het
Lcp1	A	G	14: 75,215,168	D438G	possibly damaging	Het
Lrfn2	T	A	17: 49,069,894	M1K	probably null	Het
Lrp6	A	G	6: 134,485,862	C612R	probably damaging	Het
Map3k13	T	C	16: 21,905,775	V341A	possibly damaging	Het
Megf8	T	A	7: 25,342,701	C1315S	probably benign	Het
Mrgpra9	A	T	7: 47,235,190	L243H	probably damaging	Het
Mrgprx1	T	C	7: 48,021,699	D100G	probably benign	Het
Nop2	G	T	6: 125,133,552	R47L	probably damaging	Het
Nup93	T	C	8: 94,314,636	Y801H	probably damaging	Het
Olfr623	C	T	7: 103,660,332	R306H	probably benign	Het
Olfr810	T	A	10: 129,791,181	N136I	possibly damaging	Het
Orc4	G	A	2: 48,937,489	P31S	probably benign	Het
Plce1	T	C	19: 38,524,319	S21P	possibly damaging	Het
Plpp2	A	G	10: 79,530,625	Y118H	probably damaging	Het
Ppwd1	A	G	13: 104,209,659	V496A	probably benign	Het
Rbm20	A	G	19: 53,817,202	N466S	probably benign	Het
Rpl10l	T	C	12: 66,283,738	D207G	probably benign	Het
Skida1	T	C	2: 18,045,872		probably benign	Het
Stk17b	A	G	1: 53,764,038	Y73H	probably damaging	Het
Tapbpl	A	G	6: 125,228,122	I287T	probably damaging	Het
Tmem38a	C	T	8: 72,572,161	P20S	possibly damaging	Het
Topbp1	T	C	9: 103,334,202		probably benign	Het
Tsen54	G	A	11: 115,817,106		probably null	Het
Ttn	G	A	2: 76,725,216	R28736*	probably null	Het
Wdr36	G	A	18: 32,841,148		probably null	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
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'- ATGGGGCTCTTCTCCATCTG -3'
(R):5'- GCCATGATTCCGAGGACTAG -3'

Sequencing Primer
(F):5'- ATCTGGCTTCATGCAATGGC -3'
(R):5'- CCATGATTCCGAGGACTAGTGGAG -3'

Posted On

2015-08-18