Mutagenetix > Incidental Mutation

Incidental Mutation 'R1747:Glg1'

194054

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

039779-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.425) question?

Stock #

R1747 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111154421-111259216 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 111197673 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 228 (R228C)

Ref Sequence

ENSEMBL: ENSMUSP00000131355 (fasta)

Gene Model

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

AlphaFold

Q61543

Predicted Effect

probably damaging
Transcript: ENSMUST00000003404
AA Change: R217C

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

SMART Domains

Protein: ENSMUSP00000003404
Gene: ENSMUSG00000003316
AA Change: R217C

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

noncoding transcript
Transcript: ENSMUST00000102427

Predicted Effect

probably damaging
Transcript: ENSMUST00000164283
AA Change: R228C

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

SMART Domains

Protein: ENSMUSP00000131659
Gene: ENSMUSG00000003316
AA Change: R228C

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 damaging
Transcript: ENSMUST00000169020
AA Change: R228C

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

SMART Domains

Protein: ENSMUSP00000131355
Gene: ENSMUSG00000003316
AA Change: R228C

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

Meta Mutation Damage Score

0.5914

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.7%

Validation Efficiency

97% (65/67)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	C	T	8: 13,558,814	S117N	probably damaging	Het
A830010M20Rik	T	C	5: 107,451,999	S119P	probably damaging	Het
Acat3	A	G	17: 12,924,808	I349T	possibly damaging	Het
Add3	A	G	19: 53,242,550	N552S	probably benign	Het
Ak3	G	T	19: 29,022,861	P217T	possibly damaging	Het
Aox2	A	T	1: 58,339,592	D1000V	probably benign	Het
Ap1m2	A	G	9: 21,305,686	M118T	probably damaging	Het
Arhgap28	C	A	17: 67,901,309	A105S	probably benign	Het
Arhgef28	T	C	13: 97,936,824	E1368G	probably damaging	Het
Armc7	G	A	11: 115,488,757	V94I	probably benign	Het
Asxl1	C	A	2: 153,393,454	T223N	possibly damaging	Het
Cltc	T	C	11: 86,707,081	K1078E	probably damaging	Het
Cpne8	G	A	15: 90,584,915	T158I	probably benign	Het
Csn1s2b	T	C	5: 87,816,670		probably benign	Het
Cyp3a59	A	G	5: 146,104,758	I371V	probably benign	Het
Dennd4c	T	C	4: 86,807,438	F710L	probably damaging	Het
Diaph3	T	C	14: 87,073,337	D126G	probably damaging	Het
Dnm3	G	A	1: 162,313,584	R369C	probably damaging	Het
Dst	A	C	1: 34,160,709	Q86P	probably damaging	Het
Ern2	C	A	7: 122,173,819		probably null	Het
Ern2	T	A	7: 122,173,820		probably null	Het
Exoc6	T	A	19: 37,639,769		probably null	Het
Gm4736	G	A	6: 132,115,670		noncoding transcript	Het
Hmcn2	G	C	2: 31,457,985	G4881A	probably benign	Het
Htr2a	T	G	14: 74,706,153	F391C	probably damaging	Het
Htr5b	A	T	1: 121,527,918	V91E	probably damaging	Het
Ifi44	T	A	3: 151,749,285	H101L	probably benign	Het
Ip6k1	G	A	9: 108,040,996	E77K	possibly damaging	Het
Klhl6	T	A	16: 19,947,028	H608L	probably benign	Het
Lrp4	T	C	2: 91,492,621	V1150A	probably damaging	Het
Lyst	T	C	13: 13,757,422	F3545S	probably benign	Het
Magi3	T	C	3: 104,034,173	D822G	possibly damaging	Het
Nbas	G	A	12: 13,335,898	S721N	probably benign	Het
Nog	T	A	11: 89,301,582	M147L	probably benign	Het
Npr1	C	T	3: 90,458,669	C605Y	possibly damaging	Het
Olfr1053	G	A	2: 86,314,867	L140F	probably benign	Het
Olfr866	A	C	9: 20,027,317	V207G	probably benign	Het
Pgs1	A	G	11: 118,001,631	S10G	probably benign	Het
Pla2g4c	T	C	7: 13,337,730		probably benign	Het
Prdm14	C	T	1: 13,122,403	V371I	possibly damaging	Het
Prom1	C	T	5: 44,007,031	V703I	probably benign	Het
Ptprk	A	G	10: 28,354,692	T260A	possibly damaging	Het
Scnn1g	A	T	7: 121,760,463	I390F	probably damaging	Het
Scrt2	C	T	2: 152,093,718	H264Y	probably damaging	Het
Sel1l3	C	T	5: 53,145,545	E661K	possibly damaging	Het
Skiv2l	G	T	17: 34,847,806	P162H	probably benign	Het
Slc10a5	G	T	3: 10,335,391	Q70K	probably benign	Het
Smg8	A	G	11: 87,085,303	V484A	possibly damaging	Het
Sp110	C	G	1: 85,589,118	E219D	probably damaging	Het
Stag1	T	A	9: 100,888,300	S630T	probably benign	Het
Thyn1	A	C	9: 27,005,213	Q98P	probably damaging	Het
Ttc7	A	G	17: 87,307,015	R203G	possibly damaging	Het
Ttn	T	C	2: 76,878,516		probably benign	Het
Vmn1r236	C	T	17: 21,286,917	S99L	probably benign	Het
Vmn2r50	T	A	7: 10,047,678	H380L	probably benign	Het
Vmn2r73	A	T	7: 85,858,167	C646S	probably damaging	Het
Wnt10b	A	G	15: 98,774,333	S168P	probably benign	Het
Zc3h7a	A	G	16: 11,145,253	M748T	possibly damaging	Het
Zfp804b	C	G	5: 6,770,217	E913Q	probably benign	Het
Zfp974	G	T	7: 27,911,081	F406L	possibly damaging	Het
Zic4	G	A	9: 91,384,146	C274Y	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
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
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

Predicted Primers

PCR Primer
(F):5'- CAGTTACCAGGACATTGTTCTCCTGAG -3'
(R):5'- CGTAAAGCAGCCACGTTCTTTCTTC -3'

Sequencing Primer
(F):5'- cccaaataaatctatccttccttcc -3'
(R):5'- CGTTCTTTCTTCTTTTTTTGGAACAG -3'

Posted On

2014-05-23