Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03404:Glg1'

421526

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Glg1

Ensembl Gene

ENSMUSG00000003316

Gene Name

golgi apparatus protein 1

Synonyms

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

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.357) question?

Stock #

IGL03404

Quality Score

Status

Chromosome

Chromosomal Location

111881053-111985848 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111886534 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1086 (M1086K)

Ref Sequence

ENSEMBL: ENSMUSP00000131355 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003404] [ENSMUST00000164283] [ENSMUST00000168741] [ENSMUST00000169020]

AlphaFold

Q61543

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003404
AA Change: M1075K

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000003404
Gene: ENSMUSG00000003316
AA Change: M1075K

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

possibly damaging
Transcript: ENSMUST00000168741
AA Change: M502K

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130327
Gene: ENSMUSG00000003316
AA Change: M502K

Domain	Start	End	E-Value	Type
Pfam:Cys_rich_FGFR	1	57	2.6e-17	PFAM
Pfam:Cys_rich_FGFR	58	118	8.5e-15	PFAM
Pfam:Cys_rich_FGFR	121	177	2e-14	PFAM
Pfam:Cys_rich_FGFR	188	245	4.3e-19	PFAM
Pfam:Cys_rich_FGFR	246	301	1.8e-17	PFAM
Pfam:Cys_rich_FGFR	304	368	8.9e-22	PFAM
Pfam:Cys_rich_FGFR	371	431	1.5e-16	PFAM
Pfam:Cys_rich_FGFR	459	513	1.6e-15	PFAM
transmembrane domain	558	580	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000169020
AA Change: M1086K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131355
Gene: ENSMUSG00000003316
AA Change: M1086K

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap8	T	G	17: 32,531,250 (GRCm39)		probably benign	Het
Ap3d1	A	G	10: 80,565,871 (GRCm39)	S99P	probably damaging	Het
Arhgef1	T	A	7: 24,616,268 (GRCm39)	M304K	probably benign	Het
Arpc5l	T	C	2: 38,903,895 (GRCm39)	L128P	probably damaging	Het
Chl1	A	T	6: 103,670,052 (GRCm39)	I497F	probably damaging	Het
Dnah3	C	T	7: 119,538,200 (GRCm39)	G616E	probably damaging	Het
Filip1	T	C	9: 79,725,841 (GRCm39)	E926G	probably damaging	Het
Fras1	A	T	5: 96,876,440 (GRCm39)	H2391L	probably damaging	Het
Fry	A	T	5: 150,249,633 (GRCm39)	D148V	probably damaging	Het
Gm12185	T	A	11: 48,798,864 (GRCm39)	Y543F	probably damaging	Het
Gtf3a	T	C	5: 146,887,449 (GRCm39)		probably null	Het
Hydin	A	T	8: 111,296,409 (GRCm39)	Y3646F	probably benign	Het
Itpr3	A	G	17: 27,310,492 (GRCm39)	D425G	probably damaging	Het
Lipo3	A	C	19: 33,560,440 (GRCm39)		probably benign	Het
Ltbp1	A	C	17: 75,532,301 (GRCm39)	K443T	probably damaging	Het
Mylk3	A	G	8: 86,069,310 (GRCm39)	I497T	probably damaging	Het
Nlrp5	A	G	7: 23,129,459 (GRCm39)	D842G	probably benign	Het
Or10j3	T	C	1: 173,031,766 (GRCm39)	V281A	probably benign	Het
Or52s6	A	T	7: 103,092,195 (GRCm39)	V45E	possibly damaging	Het
Or6n1	A	G	1: 173,917,464 (GRCm39)	N286S	probably damaging	Het
Or8k3b	A	G	2: 86,520,372 (GRCm39)		probably benign	Het
Pkd1	A	T	17: 24,783,380 (GRCm39)	I120L	probably damaging	Het
Ptprc	T	C	1: 138,020,739 (GRCm39)	N401S	probably damaging	Het
Rptn	A	G	3: 93,305,436 (GRCm39)	H923R	possibly damaging	Het
Rrp8	T	C	7: 105,384,145 (GRCm39)	K119R	probably benign	Het
Setd7	A	T	3: 51,440,407 (GRCm39)	Y211*	probably null	Het
Sfxn5	G	A	6: 85,276,518 (GRCm39)		probably benign	Het
Sun5	T	C	2: 153,712,924 (GRCm39)		probably benign	Het
Tnks	A	T	8: 35,407,858 (GRCm39)	V290D	probably damaging	Het
Trrap	C	T	5: 144,769,996 (GRCm39)	P2740L	probably benign	Het
Ttc23	G	T	7: 67,328,645 (GRCm39)	L195F	probably damaging	Het
Tubb1	G	T	2: 174,299,241 (GRCm39)	G308C	probably damaging	Het
Vmn1r217	A	T	13: 23,298,810 (GRCm39)	F31I	probably benign	Het
Zp1	A	T	19: 10,891,825 (GRCm39)		probably benign	Het

Other mutations in Glg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Glg1	APN	8	111,886,481 (GRCm39)	missense	probably damaging	1.00
IGL01326:Glg1	APN	8	111,909,205 (GRCm39)	missense	probably damaging	0.96
IGL01558:Glg1	APN	8	111,914,362 (GRCm39)	missense	probably benign	0.00
IGL01798:Glg1	APN	8	111,919,332 (GRCm39)	missense	possibly damaging	0.58
IGL02651:Glg1	APN	8	111,887,359 (GRCm39)	missense	possibly damaging	0.76
IGL03124:Glg1	APN	8	111,926,803 (GRCm39)	missense	probably damaging	1.00
IGL03374:Glg1	APN	8	111,889,412 (GRCm39)	missense	probably damaging	1.00
diabolical	UTSW	8	111,895,375 (GRCm39)	missense	probably damaging	1.00
BB007:Glg1	UTSW	8	111,887,367 (GRCm39)	missense	possibly damaging	0.46
BB017:Glg1	UTSW	8	111,887,367 (GRCm39)	missense	possibly damaging	0.46
PIT4362001:Glg1	UTSW	8	111,985,431 (GRCm39)	missense	possibly damaging	0.80
R0047:Glg1	UTSW	8	111,892,214 (GRCm39)	missense	probably damaging	1.00
R0047:Glg1	UTSW	8	111,892,214 (GRCm39)	missense	probably damaging	1.00
R0255:Glg1	UTSW	8	111,886,490 (GRCm39)	missense	possibly damaging	0.82
R0432:Glg1	UTSW	8	111,909,201 (GRCm39)	missense	probably damaging	1.00
R0458:Glg1	UTSW	8	111,887,238 (GRCm39)	splice site	probably benign
R0635:Glg1	UTSW	8	111,890,396 (GRCm39)	splice site	probably benign
R0765:Glg1	UTSW	8	111,886,429 (GRCm39)	critical splice donor site	probably null
R1104:Glg1	UTSW	8	111,924,235 (GRCm39)	missense	probably benign	0.01
R1495:Glg1	UTSW	8	111,924,307 (GRCm39)	missense	probably damaging	1.00
R1747:Glg1	UTSW	8	111,924,305 (GRCm39)	missense	probably damaging	1.00
R1899:Glg1	UTSW	8	111,892,306 (GRCm39)	missense	probably benign	0.23
R1950:Glg1	UTSW	8	111,892,271 (GRCm39)	missense	possibly damaging	0.79
R2074:Glg1	UTSW	8	111,895,303 (GRCm39)	missense	probably damaging	1.00
R2112:Glg1	UTSW	8	111,919,178 (GRCm39)	missense	probably damaging	1.00
R2275:Glg1	UTSW	8	111,895,353 (GRCm39)	nonsense	probably null
R2342:Glg1	UTSW	8	111,914,439 (GRCm39)	nonsense	probably null
R4633:Glg1	UTSW	8	111,904,276 (GRCm39)	critical splice donor site	probably null
R4716:Glg1	UTSW	8	111,887,407 (GRCm39)	nonsense	probably null
R4732:Glg1	UTSW	8	111,914,387 (GRCm39)	missense	probably damaging	1.00
R4733:Glg1	UTSW	8	111,914,387 (GRCm39)	missense	probably damaging	1.00
R5594:Glg1	UTSW	8	111,914,513 (GRCm39)	missense	probably damaging	1.00
R5722:Glg1	UTSW	8	111,896,194 (GRCm39)	missense	possibly damaging	0.67
R5951:Glg1	UTSW	8	111,892,323 (GRCm39)	missense	possibly damaging	0.64
R5958:Glg1	UTSW	8	111,985,736 (GRCm39)	missense	probably benign	0.01
R6090:Glg1	UTSW	8	111,907,667 (GRCm39)	missense	probably damaging	1.00
R6476:Glg1	UTSW	8	111,926,806 (GRCm39)	missense	possibly damaging	0.94
R6480:Glg1	UTSW	8	111,924,338 (GRCm39)	missense	possibly damaging	0.89
R6819:Glg1	UTSW	8	111,914,513 (GRCm39)	missense	probably damaging	1.00
R7116:Glg1	UTSW	8	111,905,589 (GRCm39)	missense	probably benign	0.22
R7293:Glg1	UTSW	8	111,895,375 (GRCm39)	missense	probably damaging	1.00
R7431:Glg1	UTSW	8	111,887,386 (GRCm39)	missense	unknown
R7479:Glg1	UTSW	8	111,924,367 (GRCm39)	missense	possibly damaging	0.91
R7509:Glg1	UTSW	8	111,985,675 (GRCm39)	missense	probably benign	0.04
R7547:Glg1	UTSW	8	111,914,393 (GRCm39)	missense	possibly damaging	0.89
R7678:Glg1	UTSW	8	111,905,497 (GRCm39)	missense	probably benign	0.19
R7930:Glg1	UTSW	8	111,887,367 (GRCm39)	missense	possibly damaging	0.46
R8182:Glg1	UTSW	8	111,897,929 (GRCm39)	missense	possibly damaging	0.88
R8383:Glg1	UTSW	8	111,896,194 (GRCm39)	missense	possibly damaging	0.67
R8787:Glg1	UTSW	8	111,888,114 (GRCm39)	missense	probably damaging	0.99
R8905:Glg1	UTSW	8	111,884,668 (GRCm39)	missense	probably damaging	0.99
R8954:Glg1	UTSW	8	111,914,527 (GRCm39)	missense	probably damaging	1.00
R8958:Glg1	UTSW	8	111,899,116 (GRCm39)	nonsense	probably null
R9023:Glg1	UTSW	8	111,904,380 (GRCm39)	missense	probably damaging	0.99
R9113:Glg1	UTSW	8	111,887,452 (GRCm39)	intron	probably benign
R9359:Glg1	UTSW	8	111,914,425 (GRCm39)	missense	probably benign	0.08
R9403:Glg1	UTSW	8	111,914,425 (GRCm39)	missense	probably benign	0.08
R9553:Glg1	UTSW	8	111,926,770 (GRCm39)	missense	probably benign	0.04
R9622:Glg1	UTSW	8	111,899,133 (GRCm39)	missense	probably damaging	1.00
R9714:Glg1	UTSW	8	111,924,301 (GRCm39)	missense	probably damaging	1.00
X0027:Glg1	UTSW	8	111,896,232 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02