Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01558:Glg1'

90771

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Glg1

Ensembl Gene

ENSMUSG00000003316

Gene Name

golgi apparatus protein 1

Synonyms

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

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.350) question?

Stock #

IGL01558

Quality Score

Status

Chromosome

Chromosomal Location

111154421-111259216 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111187730 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 474 (M474K)

Ref Sequence

ENSEMBL: ENSMUSP00000131355 (fasta)

Gene Model

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

AlphaFold

Q61543

Predicted Effect

probably benign
Transcript: ENSMUST00000003404
AA Change: M463K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000003404
Gene: ENSMUSG00000003316
AA Change: M463K

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: M474K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000131355
Gene: ENSMUSG00000003316
AA Change: M474K

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

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	T	C	5: 76,888,617	E359G	possibly damaging	Het
Agtr1b	T	C	3: 20,316,260	T61A	probably damaging	Het
Casd1	T	A	6: 4,624,143	I312N	possibly damaging	Het
Cebpz	A	T	17: 78,935,305	F307I	probably damaging	Het
Dhx33	T	C	11: 70,999,753	R207G	probably benign	Het
G0s2	T	C	1: 193,272,695	Y27C	probably damaging	Het
Macf1	T	C	4: 123,453,005	N2490S	probably benign	Het
Mpdz	C	A	4: 81,295,530	E1565*	probably null	Het
Mthfsl	A	G	9: 88,688,817	I126T	possibly damaging	Het
Nectin4	A	G	1: 171,384,689	D285G	probably benign	Het
Neurod1	T	C	2: 79,454,019	H340R	possibly damaging	Het
Nop53	G	A	7: 15,945,826		probably benign	Het
Siglec1	A	G	2: 131,078,499	L795P	probably damaging	Het
Sntg1	A	T	1: 8,463,388		probably benign	Het
Stk33	T	C	7: 109,341,284		probably benign	Het
Stox1	C	T	10: 62,667,872	V135M	probably damaging	Het
Sult2a8	C	A	7: 14,425,452	E81*	probably null	Het
Tdrd6	A	G	17: 43,625,768	V1463A	probably damaging	Het
Tdrd6	C	T	17: 43,624,766	G1797D	probably benign	Het
Trmt2b	C	A	X: 134,238,556	R389I	possibly damaging	Het
Ttc28	G	T	5: 111,283,962	V1903L	probably 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
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
R9403: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

Posted On

2013-12-09