Mutagenetix > Incidental Mutation

Incidental Mutation 'R9403:Glg1'

711350

Institutional Source

Beutler Lab

Gene Symbol

Glg1

Ensembl Gene

ENSMUSG00000003316

Gene Name

golgi apparatus protein 1

Synonyms

Selel, CFR, MG-160, CFR-1, ESL-1, MG160

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.341) question?

Stock #

R9403 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

111154421-111259216 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 111187793 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 453 (R453Q)

Ref Sequence

ENSEMBL: ENSMUSP00000131355 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003404] [ENSMUST00000164283] [ENSMUST00000169020]

AlphaFold

Q61543

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003404
AA Change: R442Q

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000003404
Gene: ENSMUSG00000003316
AA Change: R442Q

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:Cys_rich_FGFR	141	197	3.1e-13	PFAM
Pfam:Cys_rich_FGFR	199	263	1.3e-16	PFAM
Pfam:Cys_rich_FGFR	274	331	1.5e-16	PFAM
Pfam:Cys_rich_FGFR	334	398	1.6e-16	PFAM
Pfam:Cys_rich_FGFR	402	458	1.8e-15	PFAM
Pfam:Cys_rich_FGFR	463	522	2.3e-16	PFAM
Pfam:Cys_rich_FGFR	525	589	5.8e-19	PFAM
Pfam:Cys_rich_FGFR	597	653	6e-17	PFAM
Pfam:Cys_rich_FGFR	654	714	2e-14	PFAM
Pfam:Cys_rich_FGFR	717	773	4.7e-14	PFAM
Pfam:Cys_rich_FGFR	784	841	1e-18	PFAM
Pfam:Cys_rich_FGFR	842	897	4.2e-17	PFAM
Pfam:Cys_rich_FGFR	900	964	2.1e-21	PFAM
Pfam:Cys_rich_FGFR	967	1027	3.5e-16	PFAM
Pfam:Cys_rich_FGFR	1029	1086	8e-17	PFAM
transmembrane domain	1131	1153	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164283

SMART Domains

Protein: ENSMUSP00000131659
Gene: ENSMUSG00000003316

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:Cys_rich_FGFR	149	208	2.3e-16	PFAM
Pfam:Cys_rich_FGFR	210	267	1.3e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169020
AA Change: R453Q

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000131355
Gene: ENSMUSG00000003316
AA Change: R453Q

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:Cys_rich_FGFR	149	208	2.9e-15	PFAM
Pfam:Cys_rich_FGFR	210	274	1.3e-16	PFAM
Pfam:Cys_rich_FGFR	285	342	1.4e-16	PFAM
Pfam:Cys_rich_FGFR	345	409	7.2e-16	PFAM
Pfam:Cys_rich_FGFR	413	469	8.4e-16	PFAM
Pfam:Cys_rich_FGFR	474	533	6.4e-17	PFAM
Pfam:Cys_rich_FGFR	536	600	2.7e-16	PFAM
Pfam:Cys_rich_FGFR	608	664	2.6e-17	PFAM
Pfam:Cys_rich_FGFR	665	725	1.2e-13	PFAM
Pfam:Cys_rich_FGFR	728	784	2.6e-11	PFAM
Pfam:Cys_rich_FGFR	795	852	1.4e-18	PFAM
Pfam:Cys_rich_FGFR	853	908	1.1e-15	PFAM
Pfam:Cys_rich_FGFR	911	975	1e-19	PFAM
Pfam:Cys_rich_FGFR	978	1038	1.3e-15	PFAM
Pfam:Cys_rich_FGFR	1040	1097	6e-17	PFAM
transmembrane domain	1142	1164	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Nullizygous mice show smaller size, narrow rib cages, short and thin bony elements, and reduced chondrocyte proliferation and growth plates. Homozygotes for a gene trap allele show postnatal death, small size, distorted tails and cleft palate. Homozygotes for another gene trap allele die by E10.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	T	G	6: 96,165,299	T255P	probably benign	Het
4930444G20Rik	C	T	10: 22,067,941	D47N	possibly damaging	Het
Angpt4	C	T	2: 151,938,972	T380M	probably damaging	Het
Apoa5	G	C	9: 46,270,646	R340P	probably damaging	Het
Cyp3a41a	T	A	5: 145,702,198	Y320F	probably damaging	Het
Dmtf1	A	G	5: 9,121,927	L503S	possibly damaging	Het
Dock1	T	C	7: 135,168,396	V1795A	probably benign	Het
Dpys	C	G	15: 39,828,071	W285S	probably damaging	Het
Fam187b	T	C	7: 30,977,090	V8A		Het
Fbn2	T	C	18: 58,066,107	E1363G	probably damaging	Het
Gm5591	T	A	7: 38,520,148	M434L	probably benign	Het
Gm5591	T	C	7: 38,522,256	T130A	probably damaging	Het
Gpld1	G	A	13: 24,979,729	V502I	probably benign	Het
Inhba	A	G	13: 16,017,381	H29R	probably benign	Het
Itga4	T	A	2: 79,325,660	I990N	possibly damaging	Het
Kcnma1	T	A	14: 23,543,077	I280L	probably benign	Het
Malrd1	T	C	2: 15,614,177	V284A		Het
Maml2	C	T	9: 13,621,673	Q728*	probably null	Het
Mkln1	T	C	6: 31,432,970	L181P	probably damaging	Het
Mms22l	T	C	4: 24,580,204		probably null	Het
Muc16	A	G	9: 18,537,764		probably null	Het
Mylk	C	A	16: 34,875,642	S249*	probably null	Het
Naa35	G	A	13: 59,601,003	A150T	possibly damaging	Het
Naip5	T	A	13: 100,219,830	E1092D	probably benign	Het
Nup205	G	A	6: 35,199,974	R635H	probably benign	Het
Olfr263	T	C	13: 21,133,695	F307L	probably benign	Het
Olfr723	T	C	14: 49,929,449	T32A	probably benign	Het
Padi3	T	C	4: 140,810,532	I26V	probably benign	Het
Polq	T	C	16: 37,061,853	S1460P	probably benign	Het
Ptgdr	A	G	14: 44,853,258	S348P		Het
Qsox1	A	G	1: 155,782,597	S409P	probably damaging	Het
Rergl	T	A	6: 139,494,854	Y99F	possibly damaging	Het
Rptn	C	A	3: 93,395,042	H22N	probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,467,570		probably benign	Het
Sh2b1	GGACCAGCTCAG	GGACCAGCTCAGTCACGGTGACCAGCTCAG	7: 126,467,573		probably null	Het
Sh2b1	ACCAGCTCAGCCACGGGG	ACCAGCTCAGCCACGGGGCCCAGCTCAGCCACGGGG	7: 126,467,575		probably benign	Het
Slc2a3	A	C	6: 122,736,610	I214M	probably damaging	Het
Slc5a7	A	T	17: 54,276,641	N540K	probably benign	Het
Slco6c1	A	T	1: 97,062,523	S664R	possibly damaging	Het
Tgm4	C	A	9: 123,052,772	S344R	probably damaging	Het
Trim61	T	A	8: 65,014,576	Q11L	probably damaging	Het
Trpm6	C	A	19: 18,832,652	D1137E	possibly damaging	Het
Txndc2	G	A	17: 65,637,997	T395I	probably damaging	Het
Txndc9	T	C	1: 37,995,778	E15G	probably benign	Het
Vcpip1	A	G	1: 9,745,824	I778T	possibly damaging	Het
Zfp383	T	C	7: 29,915,259	F313S	possibly damaging	Het

Other mutations in Glg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Glg1	APN	8	111159849	missense	probably damaging	1.00
IGL01326:Glg1	APN	8	111182573	missense	probably damaging	0.96
IGL01558:Glg1	APN	8	111187730	missense	probably benign	0.00
IGL01798:Glg1	APN	8	111192700	missense	possibly damaging	0.58
IGL02651:Glg1	APN	8	111160727	missense	possibly damaging	0.76
IGL03124:Glg1	APN	8	111200171	missense	probably damaging	1.00
IGL03374:Glg1	APN	8	111162780	missense	probably damaging	1.00
IGL03404:Glg1	APN	8	111159902	missense	probably damaging	1.00
diabolical	UTSW	8	111168743	missense	probably damaging	1.00
BB007:Glg1	UTSW	8	111160735	missense	possibly damaging	0.46
BB017:Glg1	UTSW	8	111160735	missense	possibly damaging	0.46
PIT4362001:Glg1	UTSW	8	111258799	missense	possibly damaging	0.80
R0047:Glg1	UTSW	8	111165582	missense	probably damaging	1.00
R0047:Glg1	UTSW	8	111165582	missense	probably damaging	1.00
R0255:Glg1	UTSW	8	111159858	missense	possibly damaging	0.82
R0432:Glg1	UTSW	8	111182569	missense	probably damaging	1.00
R0458:Glg1	UTSW	8	111160606	splice site	probably benign
R0635:Glg1	UTSW	8	111163764	splice site	probably benign
R0765:Glg1	UTSW	8	111159797	critical splice donor site	probably null
R1104:Glg1	UTSW	8	111197603	missense	probably benign	0.01
R1495:Glg1	UTSW	8	111197675	missense	probably damaging	1.00
R1747:Glg1	UTSW	8	111197673	missense	probably damaging	1.00
R1899:Glg1	UTSW	8	111165674	missense	probably benign	0.23
R1950:Glg1	UTSW	8	111165639	missense	possibly damaging	0.79
R2074:Glg1	UTSW	8	111168671	missense	probably damaging	1.00
R2112:Glg1	UTSW	8	111192546	missense	probably damaging	1.00
R2275:Glg1	UTSW	8	111168721	nonsense	probably null
R2342:Glg1	UTSW	8	111187807	nonsense	probably null
R4633:Glg1	UTSW	8	111177644	critical splice donor site	probably null
R4716:Glg1	UTSW	8	111160775	nonsense	probably null
R4732:Glg1	UTSW	8	111187755	missense	probably damaging	1.00
R4733:Glg1	UTSW	8	111187755	missense	probably damaging	1.00
R5594:Glg1	UTSW	8	111187881	missense	probably damaging	1.00
R5722:Glg1	UTSW	8	111169562	missense	possibly damaging	0.67
R5951:Glg1	UTSW	8	111165691	missense	possibly damaging	0.64
R5958:Glg1	UTSW	8	111259104	missense	probably benign	0.01
R6090:Glg1	UTSW	8	111181035	missense	probably damaging	1.00
R6476:Glg1	UTSW	8	111200174	missense	possibly damaging	0.94
R6480:Glg1	UTSW	8	111197706	missense	possibly damaging	0.89
R6819:Glg1	UTSW	8	111187881	missense	probably damaging	1.00
R7116:Glg1	UTSW	8	111178957	missense	probably benign	0.22
R7293:Glg1	UTSW	8	111168743	missense	probably damaging	1.00
R7431:Glg1	UTSW	8	111160754	missense	unknown
R7479:Glg1	UTSW	8	111197735	missense	possibly damaging	0.91
R7509:Glg1	UTSW	8	111259043	missense	probably benign	0.04
R7547:Glg1	UTSW	8	111187761	missense	possibly damaging	0.89
R7678:Glg1	UTSW	8	111178865	missense	probably benign	0.19
R7930:Glg1	UTSW	8	111160735	missense	possibly damaging	0.46
R8182:Glg1	UTSW	8	111171297	missense	possibly damaging	0.88
R8383:Glg1	UTSW	8	111169562	missense	possibly damaging	0.67
R8787:Glg1	UTSW	8	111161482	missense	probably damaging	0.99
R8905:Glg1	UTSW	8	111158036	missense	probably damaging	0.99
R8954:Glg1	UTSW	8	111187895	missense	probably damaging	1.00
R8958:Glg1	UTSW	8	111172484	nonsense	probably null
R9023:Glg1	UTSW	8	111177748	missense	probably damaging	0.99
R9113:Glg1	UTSW	8	111160820	intron	probably benign
R9359:Glg1	UTSW	8	111187793	missense	probably benign	0.08
R9553:Glg1	UTSW	8	111200138	missense	probably benign	0.04
R9622:Glg1	UTSW	8	111172501	missense	probably damaging	1.00
R9714:Glg1	UTSW	8	111197669	missense	probably damaging	1.00
X0027:Glg1	UTSW	8	111169600	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGATTTCCTTTACCTAGCTCCACAG -3'
(R):5'- AGACTCCCATTTCATAACTGTCTG -3'

Sequencing Primer
(F):5'- AGCAATTGAGTGCCCAGTTC -3'
(R):5'- GTCTGACTTACCCCTGACACAG -3'

Posted On

2022-05-16