Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00226:Glg1'

2300

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 #

IGL00226

Quality Score

Status

Chromosome

Chromosomal Location

111881053-111985848 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111886481 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 1104 (C1104S)

Ref Sequence

ENSEMBL: ENSMUSP00000131355 (fasta)

Gene Model

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

AlphaFold

Q61543

Predicted Effect

probably damaging
Transcript: ENSMUST00000003404
AA Change: C1093S

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

SMART Domains

Protein: ENSMUSP00000003404
Gene: ENSMUSG00000003316
AA Change: C1093S

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: C520S

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000130327
Gene: ENSMUSG00000003316
AA Change: C520S

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: C1104S

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

SMART Domains

Protein: ENSMUSP00000131355
Gene: ENSMUSG00000003316
AA Change: C1104S

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	C	A	3: 36,533,690 (GRCm39)		probably benign	Het
Ankib1	G	A	5: 3,777,573 (GRCm39)	S439L	probably benign	Het
Cdcp3	T	A	7: 130,839,823 (GRCm39)		probably null	Het
Cpd	G	T	11: 76,688,615 (GRCm39)	H886N	probably benign	Het
Dhrs7	A	G	12: 72,706,124 (GRCm39)	C94R	probably damaging	Het
Dmxl2	T	A	9: 54,323,277 (GRCm39)	H1369L	probably damaging	Het
Dnah5	A	G	15: 28,272,488 (GRCm39)	N1068S	probably benign	Het
Dop1a	T	A	9: 86,433,732 (GRCm39)	D2329E	possibly damaging	Het
Eif1ad	A	G	19: 5,418,212 (GRCm39)		probably benign	Het
Fam149a	T	C	8: 45,792,380 (GRCm39)	R693G	probably damaging	Het
Fbxw18	T	A	9: 109,522,411 (GRCm39)	T153S	probably benign	Het
Jak3	T	C	8: 72,134,341 (GRCm39)		probably benign	Het
Kctd6	C	T	14: 8,222,856 (GRCm38)	R233C	possibly damaging	Het
Kpna3	A	G	14: 61,611,737 (GRCm39)	V300A	possibly damaging	Het
Msh5	A	T	17: 35,248,857 (GRCm39)	Y725*	probably null	Het
Myh2	T	C	11: 67,076,059 (GRCm39)	S749P	possibly damaging	Het
Or2ag15	T	A	7: 106,340,908 (GRCm39)	T78S	probably benign	Het
Or4c110	A	G	2: 88,831,683 (GRCm39)		probably benign	Het
Or5ac17	A	T	16: 59,036,859 (GRCm39)	M39K	probably damaging	Het
Or8g19	T	A	9: 39,056,053 (GRCm39)	I219N	possibly damaging	Het
Pdcd1	A	G	1: 93,967,860 (GRCm39)		probably benign	Het
Pde5a	T	A	3: 122,588,006 (GRCm39)	F391I	probably damaging	Het
Ptpn12	A	C	5: 21,203,666 (GRCm39)	S371A	probably damaging	Het
Sec16b	A	G	1: 157,365,900 (GRCm39)	Y254C	probably damaging	Het
Slc2a10	G	A	2: 165,356,700 (GRCm39)	C120Y	probably damaging	Het
Spink5	G	A	18: 44,120,938 (GRCm39)		probably benign	Het
Svil	A	G	18: 5,099,045 (GRCm39)	Q1250R	probably benign	Het
Tph1	G	T	7: 46,306,294 (GRCm39)	N222K	probably benign	Het
Vmn2r83	A	T	10: 79,314,805 (GRCm39)	D351V	probably damaging	Het
Zfp54	A	G	17: 21,653,821 (GRCm39)	D105G	possibly damaging	Het
Zfp623	T	C	15: 75,820,052 (GRCm39)	I336T	probably damaging	Het

Other mutations in Glg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL03404:Glg1	APN	8	111,886,534 (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

2011-12-09