Mutagenetix > Incidental Mutation

Incidental Mutation 'R0432:Glg1'

38835

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

038634-MU

Accession Numbers

Essential gene?

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

Stock #

R0432 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111881053-111985848 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111909201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 496 (I496M)

Ref Sequence

ENSEMBL: ENSMUSP00000003404 (fasta)

Gene Model

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

AlphaFold

Q61543

Predicted Effect

probably damaging
Transcript: ENSMUST00000003404
AA Change: I496M

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

SMART Domains

Protein: ENSMUSP00000003404
Gene: ENSMUSG00000003316
AA Change: I496M

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

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 damaging
Transcript: ENSMUST00000169020
AA Change: I507M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131355
Gene: ENSMUSG00000003316
AA Change: I507M

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.3%
20x: 92.9%

Validation Efficiency

99% (91/92)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	A	G	17: 36,206,708 (GRCm39)	L110P	probably damaging	Het
4930522L14Rik	A	T	5: 109,884,785 (GRCm39)	C358S	probably damaging	Het
Abca8b	C	A	11: 109,870,841 (GRCm39)	V104F	possibly damaging	Het
Afap1l2	T	C	19: 56,905,551 (GRCm39)		probably benign	Het
Ahctf1	A	C	1: 179,611,726 (GRCm39)	I548R	probably damaging	Het
Alox12b	G	T	11: 69,060,382 (GRCm39)	G646V	probably damaging	Het
Aoah	C	T	13: 21,095,368 (GRCm39)		probably benign	Het
Arhgap39	C	T	15: 76,619,086 (GRCm39)	D833N	probably damaging	Het
Atxn1l	A	G	8: 110,458,325 (GRCm39)	W646R	probably damaging	Het
Cabp2	T	C	19: 4,134,903 (GRCm39)	I28T	possibly damaging	Het
Cacna1b	G	A	2: 24,577,716 (GRCm39)	T719I	probably damaging	Het
Camk1d	A	T	2: 5,449,946 (GRCm39)	H70Q	probably damaging	Het
Car1	T	C	3: 14,835,236 (GRCm39)	T170A	probably benign	Het
Ccdc162	T	C	10: 41,417,856 (GRCm39)	T2113A	probably benign	Het
Cdc5l	G	A	17: 45,726,610 (GRCm39)	R321W	probably damaging	Het
Cdh17	T	A	4: 11,771,273 (GRCm39)	C18*	probably null	Het
Cdk17	A	T	10: 93,073,652 (GRCm39)		probably benign	Het
Chd9	T	A	8: 91,721,078 (GRCm39)		probably benign	Het
Chrm5	T	A	2: 112,310,000 (GRCm39)	K372M	possibly damaging	Het
Clasp2	A	G	9: 113,738,487 (GRCm39)	T423A	probably benign	Het
Col11a1	A	G	3: 113,999,550 (GRCm39)		probably benign	Het
Col27a1	T	C	4: 63,143,848 (GRCm39)	M512T	possibly damaging	Het
Dclk3	A	G	9: 111,314,003 (GRCm39)	D693G	probably damaging	Het
Dcun1d3	T	A	7: 119,457,173 (GRCm39)	K180*	probably null	Het
Dmxl2	T	C	9: 54,324,235 (GRCm39)	R876G	probably benign	Het
Dnmbp	A	T	19: 43,843,296 (GRCm39)	Y432*	probably null	Het
Elapor2	G	T	5: 9,490,966 (GRCm39)	G659*	probably null	Het
Eml2	C	T	7: 18,913,456 (GRCm39)	Q125*	probably null	Het
Faap100	A	C	11: 120,264,702 (GRCm39)		probably benign	Het
Foxp2	T	C	6: 15,254,278 (GRCm39)		probably benign	Het
Gda	A	G	19: 21,394,471 (GRCm39)	Y129H	probably damaging	Het
Gga3	G	A	11: 115,481,350 (GRCm39)	R207C	probably damaging	Het
Glt6d1	C	A	2: 25,684,739 (GRCm39)		probably null	Het
Gm10322	A	T	10: 59,452,030 (GRCm39)	H49L	possibly damaging	Het
Golga5	G	T	12: 102,442,467 (GRCm39)	V269F	possibly damaging	Het
Gramd2b	G	A	18: 56,607,141 (GRCm39)	C85Y	probably benign	Het
Grhl1	C	T	12: 24,632,918 (GRCm39)	P153L	probably benign	Het
Hdac9	T	C	12: 34,487,221 (GRCm39)	Q60R	probably damaging	Het
Hdlbp	T	C	1: 93,353,054 (GRCm39)	I414V	probably damaging	Het
Itpk1	C	T	12: 102,572,337 (GRCm39)		probably benign	Het
Itsn1	T	A	16: 91,612,408 (GRCm39)	Y266N	probably damaging	Het
Lipe	G	A	7: 25,097,913 (GRCm39)	P10L	probably benign	Het
Lrrc8a	A	G	2: 30,147,079 (GRCm39)	E631G	probably damaging	Het
Lvrn	T	A	18: 47,038,366 (GRCm39)	N973K	possibly damaging	Het
Man2c1	T	A	9: 57,042,881 (GRCm39)	H250Q	probably damaging	Het
Mup3	T	C	4: 62,003,519 (GRCm39)	T117A	probably benign	Het
Myo6	A	C	9: 80,181,256 (GRCm39)		probably benign	Het
Nbn	T	A	4: 15,983,951 (GRCm39)		probably benign	Het
Ncapg	T	A	5: 45,829,770 (GRCm39)	N157K	probably damaging	Het
Or4p7	C	T	2: 88,222,377 (GRCm39)	T262I	probably damaging	Het
Or5an1	T	A	19: 12,261,267 (GRCm39)	M285K	probably damaging	Het
Or5m12	T	A	2: 85,734,501 (GRCm39)	N299I	probably damaging	Het
Or5w14	G	A	2: 87,541,774 (GRCm39)	H159Y	probably benign	Het
Or9m1	T	C	2: 87,733,304 (GRCm39)	T239A	probably damaging	Het
P4ha1	T	A	10: 59,184,079 (GRCm39)	Y180*	probably null	Het
Pcdhb19	T	A	18: 37,632,588 (GRCm39)	F794L	probably benign	Het
Pdxdc1	T	A	16: 13,672,264 (GRCm39)	I379F	probably damaging	Het
Psme3	T	A	11: 101,211,268 (GRCm39)	S185T	possibly damaging	Het
Ptgr1	A	G	4: 58,978,045 (GRCm39)	S116P	probably damaging	Het
Ptpn23	A	T	9: 110,218,078 (GRCm39)		probably null	Het
Rabgap1l	A	C	1: 160,549,775 (GRCm39)	I277R	probably benign	Het
Rapgef1	C	T	2: 29,569,828 (GRCm39)	T93I	possibly damaging	Het
Rbp3	A	T	14: 33,676,730 (GRCm39)	D226V	probably damaging	Het
Rnf144a	A	T	12: 26,389,328 (GRCm39)	C38S	probably damaging	Het
Rptor	C	T	11: 119,671,379 (GRCm39)	Q281*	probably null	Het
Rragd	T	C	4: 33,004,332 (GRCm39)	L208S	probably damaging	Het
Slc12a4	T	C	8: 106,686,120 (GRCm39)	E41G	probably damaging	Het
Slc16a1	G	T	3: 104,560,735 (GRCm39)	V347F	probably benign	Het
Slit1	G	A	19: 41,731,732 (GRCm39)	T39I	probably damaging	Het
Sra1	T	C	18: 36,810,556 (GRCm39)	N98S	probably benign	Het
Ssx2ip	T	C	3: 146,132,184 (GRCm39)	L215P	probably damaging	Het
Syne2	A	T	12: 75,995,838 (GRCm39)	H2126L	probably damaging	Het
Tep1	TTTCTTCTTCTT	TTTCTTCTT	14: 51,104,280 (GRCm39)		probably benign	Het
Tgfbi	T	C	13: 56,780,004 (GRCm39)		probably benign	Het
Tmem232	T	C	17: 65,563,498 (GRCm39)	M632V	probably damaging	Het
Tmem81	C	G	1: 132,435,567 (GRCm39)	I124M	probably damaging	Het
Tnnt3	T	G	7: 142,065,823 (GRCm39)	D153E	probably benign	Het
Tnrc6b	T	A	15: 80,807,647 (GRCm39)		probably benign	Het
Tpsab1	A	G	17: 25,562,798 (GRCm39)		probably benign	Het
Usp34	T	A	11: 23,351,505 (GRCm39)	V1431D	probably damaging	Het
Wdr49	G	T	3: 75,357,329 (GRCm39)	R285S	possibly damaging	Het
Wdr7	A	G	18: 63,929,320 (GRCm39)	Y1052C	probably damaging	Het
Zan	A	T	5: 137,380,578 (GRCm39)		probably benign	Het
Zfp652	G	A	11: 95,654,565 (GRCm39)	V323I	possibly damaging	Het
Zfp740	A	G	15: 102,121,094 (GRCm39)	T136A	possibly damaging	Het
Zfp82	C	T	7: 29,755,754 (GRCm39)	E443K	probably damaging	Het
Zfp874b	A	G	13: 67,629,955 (GRCm39)	S10P	probably damaging	Het
Zmynd19	A	G	2: 24,848,134 (GRCm39)	Y110C	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
R0255:Glg1	UTSW	8	111,886,490 (GRCm39)	missense	possibly damaging	0.82
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'- ATCCTGATGCCCTGAGAGTCTCTG -3'
(R):5'- AGCATCTGCTGGGTGACATTGC -3'

Sequencing Primer
(F):5'- GCCCTGAGAGTCTCTGAATTACAG -3'
(R):5'- GCTGGGTGACATTGCTCTTC -3'

Posted On

2013-05-23