Mutagenetix > Incidental Mutation

Incidental Mutation 'R1495:Glg1'

168787

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

039546-MU

Accession Numbers

Essential gene?

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

Stock #

R1495 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111154421-111259216 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111197675 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 227 (Y227C)

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: Y216C

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

SMART Domains

Protein: ENSMUSP00000003404
Gene: ENSMUSG00000003316
AA Change: Y216C

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: Y227C

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

SMART Domains

Protein: ENSMUSP00000131659
Gene: ENSMUSG00000003316
AA Change: Y227C

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: Y227C

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

SMART Domains

Protein: ENSMUSP00000131355
Gene: ENSMUSG00000003316
AA Change: Y227C

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: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.3%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,477,820	N488S	probably benign	Het
A430105I19Rik	T	G	2: 118,760,532	K173N	probably damaging	Het
Acot10	G	A	15: 20,665,507	R383C	probably damaging	Het
Acsm2	A	G	7: 119,578,126	D263G	probably damaging	Het
Adcy2	G	T	13: 68,796,535	Q243K	probably benign	Het
Aggf1	G	A	13: 95,356,413	R563*	probably null	Het
Agt	A	G	8: 124,559,455	F296S	probably damaging	Het
Akap14	T	C	X: 37,163,965	D39G	possibly damaging	Het
Akt3	T	C	1: 177,103,042	M117V	probably benign	Het
Ankar	T	C	1: 72,643,291	T1154A	probably benign	Het
Arvcf	T	A	16: 18,389,386	L70Q	probably damaging	Het
Ccdc171	A	T	4: 83,681,095	K724*	probably null	Het
Ccdc91	A	G	6: 147,534,172	T85A	possibly damaging	Het
Cdh3	C	T	8: 106,538,997	T224I	probably damaging	Het
Clstn3	T	C	6: 124,449,917	I482V	probably benign	Het
Cnot9	A	G	1: 74,523,600	E176G	probably damaging	Het
Cntnap4	T	G	8: 112,881,763	L1272V	possibly damaging	Het
Cyb5a	T	A	18: 84,851,480	M1K	probably null	Het
Cyp2c23	A	G	19: 44,005,508	I473T	probably benign	Het
Dbil5	T	A	11: 76,218,450	M60K	probably benign	Het
Dgkg	A	T	16: 22,500,379	L644Q	probably damaging	Het
Disp3	T	C	4: 148,249,825	I1004V	probably benign	Het
Egf	T	A	3: 129,713,006	I599F	probably damaging	Het
Epc2	A	G	2: 49,536,663	T145A	probably damaging	Het
Extl1	TGCGTTGCACCGATACCGGG	TG	4: 134,357,677		probably benign	Het
Extl3	A	T	14: 65,075,867	V622E	probably benign	Het
Fam227a	C	T	15: 79,626,245	V403I	probably benign	Het
Fat2	T	A	11: 55,262,673	D3571V	probably benign	Het
Fcho2	A	G	13: 98,749,850		probably null	Het
Fras1	A	G	5: 96,528,586	N64S	possibly damaging	Het
Gabbr1	A	G	17: 37,055,940	N352S	possibly damaging	Het
Gabra1	T	C	11: 42,154,944	N113S	probably damaging	Het
Gm14851	T	A	8: 21,095,201	Q75L	probably benign	Het
Gm5141	A	T	13: 62,774,270	C362S	probably damaging	Het
Gprc6a	T	A	10: 51,628,437	T104S	probably benign	Het
Jph1	A	C	1: 17,091,652	V262G	probably benign	Het
Kank1	C	G	19: 25,410,349	T434R	probably damaging	Het
Kmt2e	A	G	5: 23,499,327	S1173G	possibly damaging	Het
Krt75	G	A	15: 101,573,873		probably benign	Het
Lyzl1	G	T	18: 4,181,192	W77L	probably null	Het
Nipbl	T	G	15: 8,351,280	N676T	probably benign	Het
Obscn	C	T	11: 59,080,160	S2300N	probably damaging	Het
Olfr459	T	G	6: 41,771,903	Y132S	probably damaging	Het
Osbpl1a	T	A	18: 12,758,839	M350L	probably benign	Het
Pecam1	T	C	11: 106,688,856	D460G	probably damaging	Het
Pik3c2a	T	A	7: 116,388,065	K540N	probably benign	Het
Prdm12	T	A	2: 31,640,193	I32N	probably damaging	Het
Prkd1	T	C	12: 50,366,352	S679G	probably damaging	Het
Psen2	C	T	1: 180,228,854	A393T	probably damaging	Het
Ptprh	T	A	7: 4,580,889	T235S	probably benign	Het
Ranbp3	C	T	17: 56,705,527	P182L	probably benign	Het
Serpinb7	A	T	1: 107,451,660	K266*	probably null	Het
Sesn3	T	C	9: 14,308,521	S69P	probably damaging	Het
Slc12a6	T	C	2: 112,354,190	M818T	probably damaging	Het
Slc25a53	C	A	X: 137,015,335	C4F	unknown	Het
Snx1	T	A	9: 66,096,597	L255F	probably benign	Het
Sptbn2	T	G	19: 4,718,976	S46A	possibly damaging	Het
Taf4	A	G	2: 179,933,027	F595S	probably damaging	Het
Tec	A	T	5: 72,786,755	V103E	probably damaging	Het
Tmco5b	T	C	2: 113,290,791	S147P	possibly damaging	Het
Uchl5	C	T	1: 143,799,937	T93I	possibly damaging	Het
Usp14	A	T	18: 10,004,994	S225T	probably benign	Het
Usp45	C	A	4: 21,797,385	Q238K	possibly damaging	Het
Vmn1r6	T	A	6: 57,003,073	M218K	possibly damaging	Het
Zfp84	T	A	7: 29,777,303	Y473*	probably null	Het
Zyg11b	G	A	4: 108,266,213	P186S	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
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

Predicted Primers

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

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

Posted On

2014-04-13