Mutagenetix > Incidental Mutation

Incidental Mutation 'R6945:Glmp'

540829

Institutional Source

Beutler Lab

Gene Symbol

Glmp

Ensembl Gene

ENSMUSG00000001418

Gene Name

glycosylated lysosomal membrane protein

Synonyms

NCU-G1, 0610031J06Rik

MMRRC Submission

045059-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6945 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88325023-88331313 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88325832 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 92 (S92R)

Ref Sequence

ENSEMBL: ENSMUSP00000135263 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001452] [ENSMUST00000001454] [ENSMUST00000001456] [ENSMUST00000107552] [ENSMUST00000107553] [ENSMUST00000131666] [ENSMUST00000154381] [ENSMUST00000164166] [ENSMUST00000168062] [ENSMUST00000177005] [ENSMUST00000176425] [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
AA Change: S92R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000001454
Gene: ENSMUSG00000001418
AA Change: S92R

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

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: 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

Predicted Effect

probably benign
Transcript: ENSMUST00000177005
AA Change: S92R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000135398
Gene: ENSMUSG00000001418
AA Change: S92R

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 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: ENSMUST00000176519
AA Change: S92R

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000135263
Gene: ENSMUSG00000001418
AA Change: S92R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.5%

Validation Efficiency

96% (51/53)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430403G16Rik	A	C	5: 109,676,845	N246K	probably benign	Het
AA792892	C	T	5: 94,383,631	H125Y	possibly damaging	Het
Abcc5	T	A	16: 20,400,009	T208S	probably benign	Het
Acaa2	A	G	18: 74,793,309	E112G	probably benign	Het
Adgrb1	A	G	15: 74,550,024	N881S	probably damaging	Het
Adgre1	A	G	17: 57,410,844	E314G	probably benign	Het
Adgre1	A	G	17: 57,420,399	E443G	probably benign	Het
Akp3	A	G	1: 87,125,631	Y102C	probably damaging	Het
Birc6	A	G	17: 74,579,531	N618S	probably benign	Het
Bpifc	A	G	10: 85,979,214	V296A	probably benign	Het
Cacna2d3	G	A	14: 28,969,318		probably benign	Het
Cacnb4	T	C	2: 52,474,954	N99S	probably damaging	Het
Cd38	A	G	5: 43,908,006	Y283C	probably damaging	Het
Celf4	T	A	18: 25,496,236	Q411L	probably damaging	Het
Cemip	A	T	7: 83,998,547	H108Q	probably damaging	Het
Col23a1	A	G	11: 51,561,893	E225G	unknown	Het
Dnah11	T	C	12: 118,060,310	E1902G	probably damaging	Het
Dst	A	G	1: 34,190,490	D2063G	probably damaging	Het
Fsip2	A	T	2: 82,992,840	I6306L	probably benign	Het
Furin	A	G	7: 80,391,090	S667P	possibly damaging	Het
Gm11563	C	G	11: 99,658,472	C152S	unknown	Het
Gm3486	A	G	14: 41,484,561	V185A	probably benign	Het
Gm4070	G	A	7: 105,901,980	Q622*	probably null	Het
Hyal1	C	A	9: 107,579,170	A102E	probably damaging	Het
Invs	T	C	4: 48,421,785	C806R	probably benign	Het
L1td1	T	C	4: 98,733,696	V165A	probably benign	Het
Lama1	A	G	17: 67,813,866	T2666A		Het
Lrit1	G	C	14: 37,060,095	V242L	probably damaging	Het
Lrrc8a	A	G	2: 30,256,227	Y351C	probably damaging	Het
Myh7b	T	C	2: 155,622,232	F551S	possibly damaging	Het
Myo19	A	G	11: 84,897,560	T333A	probably benign	Het
Nrp2	A	T	1: 62,760,788	N387I	probably damaging	Het
Oas2	T	C	5: 120,736,139	D543G	probably benign	Het
Olfr1040	A	G	2: 86,146,084	S217P	probably damaging	Het
Olfr117	A	G	17: 37,659,514	I273T	possibly damaging	Het
Pak7	A	G	2: 136,100,939	V427A	probably benign	Het
Pfas	G	A	11: 69,000,530	A247V	probably benign	Het
Psat1	T	A	19: 15,917,181	T115S	probably benign	Het
Psme4	T	A	11: 30,837,437	D1077E	probably benign	Het
Rabgap1l	A	G	1: 160,682,182	S442P	probably benign	Het
Ralgapa1	A	G	12: 55,776,191	M280T	possibly damaging	Het
Rb1cc1	A	T	1: 6,261,032	E394D	probably damaging	Het
Seh1l	T	C	18: 67,789,390	V271A	probably benign	Het
Sf3b1	A	T	1: 54,997,156	N919K	probably benign	Het
Sftpd	A	G	14: 41,174,492	S245P	possibly damaging	Het
Slc22a15	T	C	3: 101,924,114	E2G	probably damaging	Het
Spta1	A	G	1: 174,209,325	D1134G	possibly damaging	Het
Syna	A	G	5: 134,558,961	V378A	probably damaging	Het
Tchp	A	G	5: 114,709,350	K77E	possibly damaging	Het
Tescl	T	C	7: 24,333,531	N123S	probably benign	Het
Trio	C	T	15: 27,824,090	R1443Q	probably damaging	Het
Trrap	A	T	5: 144,790,855	Y462F	possibly damaging	Het
Vmn1r78	A	G	7: 12,152,905	T148A	probably benign	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly 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
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
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'- CCCCGTGTTCCAGGTATCTATG -3'
(R):5'- TCAAACTCAAGCAGCTGGGG -3'

Sequencing Primer
(F):5'- CCAGGTATCTATGGAGGTTATTTCC -3'
(R):5'- AGTGGAAGAGGCTTGCCTC -3'

Posted On

2018-11-28