Mutagenetix > Incidental Mutation

Incidental Mutation 'R7678:Glg1'

592585

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

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.350) question?

Stock #

R7678 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111154421-111259216 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 111178865 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 595 (H595N)

Ref Sequence

ENSEMBL: ENSMUSP00000131355 (fasta)

Gene Model

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

AlphaFold

Q61543

Predicted Effect

probably benign
Transcript: ENSMUST00000003404
AA Change: H584N

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000003404
Gene: ENSMUSG00000003316
AA Change: H584N

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

possibly damaging
Transcript: ENSMUST00000164283
AA Change: D260E

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000131659
Gene: ENSMUSG00000003316
AA Change: D260E

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 benign
Transcript: ENSMUST00000168741

SMART Domains

Protein: ENSMUSP00000130327
Gene: ENSMUSG00000003316

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 benign
Transcript: ENSMUST00000169020
AA Change: H595N

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000131355
Gene: ENSMUSG00000003316
AA Change: H595N

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

0.2964

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (67/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	C	A	5: 8,087,750		probably null	Het
Ank1	A	G	8: 23,117,058	D1325G	probably damaging	Het
Asxl1	T	C	2: 153,400,652	S1042P	probably damaging	Het
Bpifb1	C	T	2: 154,202,729	H39Y	possibly damaging	Het
Capn13	C	A	17: 73,315,305	M663I	probably damaging	Het
Clec2g	A	G	6: 128,979,437	E72G	probably damaging	Het
Col12a1	T	A	9: 79,651,486	Y1899F	probably damaging	Het
Ctbp2	A	G	7: 133,014,624	V194A	probably benign	Het
Cttnbp2	G	T	6: 18,382,810	L1320I	probably damaging	Het
E2f2	T	A	4: 136,192,826	L374*	probably null	Het
Echdc3	C	T	2: 6,212,876	G29S	probably benign	Het
Ecm1	A	G	3: 95,736,182	S269P	probably damaging	Het
Elmo2	G	A	2: 165,291,744	P775S	unknown	Het
Eno3	T	A	11: 70,659,167		probably null	Het
Faf1	G	A	4: 109,829,864	R267K	probably benign	Het
Fam162a	G	A	16: 36,049,937		probably benign	Het
Fam178b	T	A	1: 36,564,451	D473V	probably damaging	Het
Fat2	G	A	11: 55,282,330	T2519I	probably damaging	Het
Foxc2	A	G	8: 121,118,095	Y494C	probably damaging	Het
Gcnt2	C	A	13: 40,953,719	Q355K	probably benign	Het
Gm9913	A	T	2: 125,506,560	H97L	unknown	Het
Hbegf	T	A	18: 36,507,548	N152I	possibly damaging	Het
Hipk1	G	A	3: 103,760,550	T567I	probably damaging	Het
Idh3a	C	T	9: 54,595,169	P78S	probably damaging	Het
Igsf10	A	T	3: 59,319,340	M2304K	possibly damaging	Het
Inf2	A	G	12: 112,606,994	T723A	unknown	Het
Itpr2	A	T	6: 146,187,550	F2220Y	probably benign	Het
Kpnb1	C	T	11: 97,169,173	R557Q	probably damaging	Het
Lefty1	A	G	1: 180,936,760	D155G	probably damaging	Het
Lrp1	A	G	10: 127,574,053	C1554R	probably damaging	Het
Lrrc10	A	G	10: 117,045,757	D112G	probably benign	Het
Med12l	A	G	3: 59,076,720	E439G	probably damaging	Het
Ms4a7	A	T	19: 11,324,504	F185Y	probably benign	Het
Mtmr6	T	A	14: 60,289,652	M234K	probably damaging	Het
Myh7b	C	A	2: 155,617,778		probably null	Het
Myo1d	T	C	11: 80,676,893	M254V	possibly damaging	Het
Nbas	T	C	12: 13,415,661	V1368A	probably damaging	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Neb	A	G	2: 52,206,702	V4999A	probably damaging	Het
Npbwr1	G	T	1: 5,916,708	Q196K	probably benign	Het
Nsd3	A	T	8: 25,659,817	E339D	possibly damaging	Het
Olfr738	T	C	14: 50,414,014	F157L	probably damaging	Het
Olfr776	A	G	10: 129,261,068	S36G	probably damaging	Het
Olfr867	T	C	9: 20,054,605	N168S	probably damaging	Het
Oog4	CAA	CA	4: 143,437,452		probably null	Het
Plxna1	C	T	6: 89,331,900	V1199M	probably damaging	Het
Ppfibp2	T	A	7: 107,716,666	M285K	probably damaging	Het
Ppip5k1	A	G	2: 121,337,661	Y704H	probably damaging	Het
Ptpn18	G	A	1: 34,473,364	D417N	possibly damaging	Het
Sbspon	T	C	1: 15,859,058	M170V	probably benign	Het
Scfd2	A	C	5: 74,458,636	F440V	probably benign	Het
Slc22a19	T	A	19: 7,710,937	D86V	possibly damaging	Het
Smg5	A	G	3: 88,353,895	N685S	possibly damaging	Het
Spata46	A	G	1: 170,311,764	R111G	possibly damaging	Het
Sry	A	T	Y: 2,663,248	D137E	possibly damaging	Het
Tbkbp1	T	C	11: 97,149,483	D35G	probably damaging	Het
Tcf20	A	T	15: 82,851,565	V1895D	possibly damaging	Het
Tfap4	G	T	16: 4,551,766	Q112K	possibly damaging	Het
Tmem2	C	A	19: 21,798,116	T241K	probably damaging	Het
Trmt10c	T	A	16: 56,034,939	D111V	probably benign	Het
Unc80	T	C	1: 66,649,722	I2415T	probably benign	Het
Vmn2r107	A	T	17: 20,356,639	M300L	probably benign	Het
Vmn2r5	A	T	3: 64,509,522	F72I	probably benign	Het
Vmn2r53	T	A	7: 12,598,498	H408L	probably benign	Het
Zan	C	T	5: 137,463,540	V1126M	unknown	Het
Zfp493	A	T	13: 67,779,695		probably benign	Het
Zfp618	C	A	4: 63,086,621	A86E	probably benign	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
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
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'- AGCCAAGGACTGCTTTTCTAGG -3'
(R):5'- ACTATGAGCAGCATTCAGAGTG -3'

Sequencing Primer
(F):5'- TCTAGGAGTGGAGCATCCTC -3'
(R):5'- GCCTGCTAATGCCTGTAAGATCAG -3'

Posted On

2019-11-12