Mutagenetix > Incidental Mutation

Incidental Mutation 'R0255:Glg1'

34680

Institutional Source

Beutler Lab

Gene Symbol

Glg1

Ensembl Gene

ENSMUSG00000003316

Gene Name

golgi apparatus protein 1

Synonyms

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

MMRRC Submission

038486-MU

Accession Numbers

Essential gene?

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

Stock #

R0255 (G1)

Quality Score

202

Status

Validated

Chromosome

Chromosomal Location

111881053-111985848 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 111886490 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 1101 (Q1101K)

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: Q1090K

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000003404
Gene: ENSMUSG00000003316
AA Change: Q1090K

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: Q517K

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000130327
Gene: ENSMUSG00000003316
AA Change: Q517K

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

possibly damaging
Transcript: ENSMUST00000169020
AA Change: Q1101K

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000131355
Gene: ENSMUSG00000003316
AA Change: Q1101K

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

0.0996

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.6%

Validation Efficiency

93% (102/110)

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,061,907 (GRCm39)	F119S	probably damaging	Het
Abca13	C	A	11: 9,531,545 (GRCm39)	Q4591K	probably damaging	Het
Anapc1	A	T	2: 128,476,631 (GRCm39)	M1329K	probably damaging	Het
Aoah	A	T	13: 21,163,710 (GRCm39)	K338*	probably null	Het
Ascc3	A	T	10: 50,521,154 (GRCm39)	T416S	probably benign	Het
Baz2a	A	G	10: 127,950,508 (GRCm39)	T484A	possibly damaging	Het
Btnl6	T	C	17: 34,727,477 (GRCm39)	N351S	probably benign	Het
Cacna1s	T	G	1: 136,046,544 (GRCm39)	I1772S	possibly damaging	Het
Ccdc8	A	G	7: 16,729,582 (GRCm39)	D357G	unknown	Het
Ccna1	T	C	3: 54,958,049 (GRCm39)	E152G	probably damaging	Het
Cct4	A	G	11: 22,949,073 (GRCm39)	D273G	probably damaging	Het
Cd9	A	G	6: 125,440,703 (GRCm39)	V96A	probably damaging	Het
Cdc5l	G	A	17: 45,726,610 (GRCm39)	R321W	probably damaging	Het
Cdh20	T	C	1: 109,922,036 (GRCm39)	S43P	probably benign	Het
Cep95	G	A	11: 106,702,097 (GRCm39)	V365M	probably benign	Het
Ces1c	T	C	8: 93,854,152 (GRCm39)	T128A	probably benign	Het
Chil5	A	G	3: 105,926,583 (GRCm39)	V82A	probably damaging	Het
Clmn	T	C	12: 104,748,023 (GRCm39)	D508G	probably benign	Het
Cog8	A	T	8: 107,775,777 (GRCm39)		probably benign	Het
Cst3	A	T	2: 148,717,089 (GRCm39)	V70E	probably damaging	Het
Ctcf	A	G	8: 106,390,671 (GRCm39)	T93A	possibly damaging	Het
Ctsk	C	A	3: 95,416,188 (GRCm39)	N315K	probably benign	Het
Cyp2j12	G	T	4: 96,029,262 (GRCm39)	D6E	probably benign	Het
Dhx34	A	G	7: 15,939,917 (GRCm39)	V655A	probably benign	Het
Dock10	T	C	1: 80,583,593 (GRCm39)	Y203C	probably damaging	Het
Dok7	A	T	5: 35,221,678 (GRCm39)	D26V	probably damaging	Het
Epha8	G	A	4: 136,667,597 (GRCm39)	H295Y	probably damaging	Het
Esf1	A	G	2: 139,990,843 (GRCm39)		probably benign	Het
Fam83c	A	G	2: 155,671,672 (GRCm39)	S588P	probably benign	Het
Fat3	G	A	9: 15,881,002 (GRCm39)		probably benign	Het
Fhdc1	T	C	3: 84,360,817 (GRCm39)		probably benign	Het
Frmd4b	A	G	6: 97,285,047 (GRCm39)	V338A	probably damaging	Het
Fsd1l	A	G	4: 53,694,727 (GRCm39)	T394A	probably damaging	Het
Gbf1	A	G	19: 46,242,549 (GRCm39)		probably benign	Het
Glt8d2	T	A	10: 82,487,361 (GRCm39)		probably null	Het
Gm19345	T	C	7: 19,588,855 (GRCm39)		probably benign	Het
Gpr179	A	T	11: 97,226,892 (GRCm39)	D1754E	probably benign	Het
Hydin	A	G	8: 111,291,650 (GRCm39)	T3381A	probably benign	Het
Igkv12-41	G	A	6: 69,835,822 (GRCm39)	T16I	possibly damaging	Het
Insl5	A	G	4: 102,875,313 (GRCm39)	*146Q	probably null	Het
Iqce	A	T	5: 140,651,957 (GRCm39)	I655N	possibly damaging	Het
Irf2bp1	G	A	7: 18,738,927 (GRCm39)	R189H	possibly damaging	Het
Itprid2	T	A	2: 79,490,810 (GRCm39)	L976Q	probably damaging	Het
Itsn1	C	T	16: 91,602,978 (GRCm39)		probably benign	Het
Kansl3	A	T	1: 36,384,050 (GRCm39)	I724N	probably benign	Het
Kcna4	T	C	2: 107,126,907 (GRCm39)	I547T	probably damaging	Het
Klk1b4	A	T	7: 43,860,158 (GRCm39)	I91F	probably benign	Het
Lmbr1	A	G	5: 29,457,753 (GRCm39)	S282P	probably damaging	Het
Lrrc17	G	A	5: 21,765,967 (GRCm39)	A150T	probably benign	Het
Lrrc2	A	G	9: 110,809,966 (GRCm39)	E334G	possibly damaging	Het
Lrrc7	G	A	3: 157,866,475 (GRCm39)	Q1077*	probably null	Het
Mapk8	A	T	14: 33,109,264 (GRCm39)		probably benign	Het
Mast1	T	A	8: 85,638,650 (GRCm39)	T1560S	probably benign	Het
Mdh1b	C	A	1: 63,758,777 (GRCm39)	A272S	probably damaging	Het
Myo15b	T	C	11: 115,777,109 (GRCm39)	Y912H	probably damaging	Het
Nf1	T	G	11: 79,299,525 (GRCm39)		probably null	Het
Nme7	T	A	1: 164,172,944 (GRCm39)	D218E	probably damaging	Het
Nsun7	T	A	5: 66,446,751 (GRCm39)		probably benign	Het
Nxpe2	A	G	9: 48,251,870 (GRCm39)		probably null	Het
Or1e34	A	G	11: 73,778,655 (GRCm39)	V181A	probably benign	Het
Or2ag16	G	A	7: 106,352,196 (GRCm39)	T133I	probably benign	Het
Or2n1c	T	G	17: 38,519,286 (GRCm39)	I50R	probably benign	Het
Or5p53	T	A	7: 107,533,375 (GRCm39)	V216D	probably damaging	Het
P2ry1	T	C	3: 60,910,951 (GRCm39)	V30A	probably benign	Het
Pgm2	T	A	5: 64,269,386 (GRCm39)	I491N	possibly damaging	Het
Pkd1l3	A	T	8: 110,365,386 (GRCm39)	D1169V	probably damaging	Het
Poldip2	T	A	11: 78,403,189 (GRCm39)	S18T	probably benign	Het
Prg4	C	T	1: 150,331,558 (GRCm39)		probably benign	Het
Prkab2	T	A	3: 97,574,728 (GRCm39)	Y241*	probably null	Het
Prmt7	A	G	8: 106,953,839 (GRCm39)		probably benign	Het
Proser3	T	A	7: 30,245,842 (GRCm39)	R80W	probably damaging	Het
Prr12	A	G	7: 44,699,415 (GRCm39)		probably benign	Het
Psmd1	A	T	1: 86,006,304 (GRCm39)	L223F	probably damaging	Het
Rab13	A	G	3: 90,131,088 (GRCm39)		probably benign	Het
Rgl1	C	T	1: 152,428,347 (GRCm39)	C294Y	probably damaging	Het
Rpl21-ps4	C	A	14: 11,227,556 (GRCm38)		noncoding transcript	Het
Rusc2	T	C	4: 43,423,954 (GRCm39)	V1036A	probably damaging	Het
Sae1	T	A	7: 16,104,247 (GRCm39)	K121*	probably null	Het
Sap130	C	T	18: 31,813,559 (GRCm39)	P539S	probably damaging	Het
Saxo4	C	T	19: 10,452,418 (GRCm39)	R364Q	probably damaging	Het
Scube2	A	G	7: 109,424,079 (GRCm39)	L475P	probably damaging	Het
Sec16a	T	C	2: 26,321,198 (GRCm39)	D1298G	probably damaging	Het
Serpinb9b	T	C	13: 33,222,003 (GRCm39)	F206L	probably benign	Het
Sh3bp1	T	A	15: 78,788,534 (GRCm39)	Y202*	probably null	Het
Shprh	T	A	10: 11,062,135 (GRCm39)	C1177S	possibly damaging	Het
Slc27a6	T	C	18: 58,742,937 (GRCm39)	Y542H	possibly damaging	Het
Slc41a1	T	C	1: 131,771,650 (GRCm39)		probably benign	Het
Slc46a1	T	C	11: 78,361,625 (GRCm39)	F424L	probably damaging	Het
Slc66a2	C	T	18: 80,306,733 (GRCm39)	A101V	probably benign	Het
Slc6a12	G	A	6: 121,333,877 (GRCm39)	V238I	probably damaging	Het
Slc6a20a	A	G	9: 123,493,686 (GRCm39)	V65A	probably damaging	Het
Slc9c1	T	A	16: 45,374,663 (GRCm39)	S343T	probably benign	Het
Spcs3	C	A	8: 54,981,415 (GRCm39)	R60I	probably benign	Het
Tbc1d16	C	A	11: 119,038,401 (GRCm39)	R764L	possibly damaging	Het
Tcaf2	A	T	6: 42,619,838 (GRCm39)	V63E	possibly damaging	Het
Tmc1	G	T	19: 20,766,951 (GRCm39)	A750E	possibly damaging	Het
Tmem273	A	G	14: 32,530,320 (GRCm39)	K83E	possibly damaging	Het
Tmem81	C	G	1: 132,435,567 (GRCm39)	I124M	probably damaging	Het
Tmx3	T	C	18: 90,558,130 (GRCm39)	I394T	probably damaging	Het
Trank1	G	A	9: 111,195,092 (GRCm39)	E1039K	possibly damaging	Het
Trpc4ap	A	G	2: 155,499,866 (GRCm39)		probably benign	Het
Tsen54	T	C	11: 115,706,234 (GRCm39)	C123R	probably damaging	Het
Ubtd1	A	G	19: 42,020,373 (GRCm39)	D39G	possibly damaging	Het
Vmn1r181	A	T	7: 23,683,759 (GRCm39)	M75L	probably benign	Het
Zc3h7a	T	C	16: 10,958,601 (GRCm39)	T847A	probably damaging	Het
Zc3hav1	A	G	6: 38,313,485 (GRCm39)	C187R	probably damaging	Het
Zfp692	G	A	11: 58,201,229 (GRCm39)		probably benign	Het
Zmiz1	G	A	14: 25,654,919 (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
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
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

Predicted Primers

PCR Primer
(F):5'- TGTGTGCTGTTCCACATAACCTGG -3'
(R):5'- TGAACATCGCAGGGGCCATAAC -3'

Sequencing Primer
(F):5'- cctggcctgatttttggaatatac -3'
(R):5'- AGGTGACACACAGCTTGTTTC -3'

Posted On

2013-05-09