Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02820:Gcm1'

360978

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gcm1

Ensembl Gene

ENSMUSG00000023333

Gene Name

glial cells missing homolog 1

Synonyms

glial cell deficient, Gcm 1, Gcm a, GCMa, glide, Gcm1-rs1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02820

Quality Score

Status

Chromosome

Chromosomal Location

77959240-77972906 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77971844 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 262 (F262L)

Ref Sequence

ENSEMBL: ENSMUSP00000024104 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024104]

AlphaFold

P70348

PDB Structure

STRUCTURE OF THE GCM DOMAIN BOUND TO DNA [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000024104
AA Change: F262L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000024104
Gene: ENSMUSG00000023333
AA Change: F262L

Domain	Start	End	E-Value	Type
Pfam:GCM	30	167	4.2e-75	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217247

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DNA-binding protein with a gcm-motif (glial cell missing motif). The encoded protein is a homolog of the Drosophila glial cells missing gene (gcm). This protein binds to the GCM-motif (A/G)CCCGCAT, a novel sequence among known targets of DNA-binding proteins. The N-terminal DNA-binding domain confers the unique DNA-binding activity of this protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired branching of the chorioallantoic interface, absence of the placental labyrinth, lack of fusion of chorionic trophoblast cells, and lethality between embryonic days 5.5-10. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624G23Rik	T	C	12: 24,124,417 (GRCm39)	Y86C	probably benign	Het
Adgra2	G	A	8: 27,607,535 (GRCm39)	V47M	probably damaging	Het
Anks1b	T	C	10: 89,912,921 (GRCm39)	C349R	possibly damaging	Het
Anks4b	A	T	7: 119,781,914 (GRCm39)		probably benign	Het
Apobec2	A	G	17: 48,730,295 (GRCm39)	S124P	probably damaging	Het
Brd8	G	A	18: 34,740,354 (GRCm39)	S493L	probably benign	Het
Cbln3	A	G	14: 56,120,944 (GRCm39)	Y126H	probably damaging	Het
Ccdc138	T	C	10: 58,364,721 (GRCm39)		probably benign	Het
Cckbr	C	T	7: 105,083,238 (GRCm39)	A147V	probably damaging	Het
Ceacam2	T	A	7: 25,219,411 (GRCm39)	H283L	probably damaging	Het
Cfap251	A	G	5: 123,392,699 (GRCm39)		probably benign	Het
Clasp1	A	G	1: 118,478,834 (GRCm39)	D718G	possibly damaging	Het
Clmn	A	T	12: 104,739,493 (GRCm39)	Y979N	probably damaging	Het
Ddias	T	C	7: 92,508,551 (GRCm39)	T455A	probably benign	Het
Dennd5b	T	C	6: 148,920,840 (GRCm39)	R851G	probably null	Het
Dock1	T	C	7: 134,768,944 (GRCm39)	V1771A	probably benign	Het
Dysf	T	A	6: 84,077,187 (GRCm39)	L694Q	probably damaging	Het
Faim2	T	C	15: 99,419,138 (GRCm39)	Y77C	probably benign	Het
Fbxw22	A	T	9: 109,215,732 (GRCm39)	I172N	probably damaging	Het
Fhad1	C	T	4: 141,646,069 (GRCm39)	D298N	probably benign	Het
Fyb1	T	G	15: 6,688,040 (GRCm39)	V800G	possibly damaging	Het
Gm21983	T	C	7: 26,879,605 (GRCm39)	M121V	probably benign	Het
Gm9996	A	T	10: 29,019,657 (GRCm39)		probably benign	Het
Gstm3	A	T	3: 107,876,074 (GRCm39)		probably benign	Het
Gsto2	G	T	19: 47,863,398 (GRCm39)	E91D	probably damaging	Het
Hs6st3	G	T	14: 119,376,492 (GRCm39)	M222I	possibly damaging	Het
Ighv3-6	T	C	12: 114,251,850 (GRCm39)	D90G	probably damaging	Het
Itgb1bp1	C	T	12: 21,326,854 (GRCm39)	A40T	possibly damaging	Het
Kcns3	C	T	12: 11,141,872 (GRCm39)	E276K	probably benign	Het
Lamc3	C	T	2: 31,813,034 (GRCm39)	R1007C	probably damaging	Het
Lnx2	A	T	5: 146,978,877 (GRCm39)	M125K	probably damaging	Het
Lyst	T	A	13: 13,812,643 (GRCm39)	N1018K	probably benign	Het
Mctp2	T	A	7: 71,895,290 (GRCm39)	S186C	probably damaging	Het
Or1j20	A	T	2: 36,759,871 (GRCm39)	T98S	probably benign	Het
Polg	T	C	7: 79,109,519 (GRCm39)	T433A	possibly damaging	Het
Rdh13	C	T	7: 4,438,059 (GRCm39)	V127M	probably damaging	Het
Rdh16	A	G	10: 127,649,470 (GRCm39)	T309A	probably benign	Het
Reep5	A	T	18: 34,506,312 (GRCm39)	D21E	probably benign	Het
Rptn	A	T	3: 93,304,227 (GRCm39)	N520I	probably benign	Het
Rttn	T	C	18: 89,047,122 (GRCm39)	L928P	probably damaging	Het
Slc44a2	A	G	9: 21,254,273 (GRCm39)	I212V	probably benign	Het
Snupn	A	G	9: 56,870,332 (GRCm39)	T71A	probably benign	Het
Ssu2	T	C	6: 112,359,353 (GRCm39)	N89S	probably benign	Het
Thsd7a	A	G	6: 12,321,071 (GRCm39)	S1535P	probably damaging	Het
Tmt1a	C	A	15: 100,202,933 (GRCm39)	S51*	probably null	Het
Uba7	A	T	9: 107,858,715 (GRCm39)	S849C	probably benign	Het
Vmn2r80	A	G	10: 79,007,439 (GRCm39)	T472A	probably benign	Het
Wdr6	A	G	9: 108,455,743 (GRCm39)	I17T	probably benign	Het
Xkr9	G	A	1: 13,771,173 (GRCm39)	V230I	probably benign	Het

Other mutations in Gcm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00690:Gcm1	APN	9	77,972,298 (GRCm39)	missense	probably benign	0.09
IGL02132:Gcm1	APN	9	77,972,121 (GRCm39)	missense	possibly damaging	0.95
IGL03074:Gcm1	APN	9	77,972,057 (GRCm39)	missense	possibly damaging	0.84
PIT4280001:Gcm1	UTSW	9	77,966,915 (GRCm39)	missense	probably damaging	1.00
R0720:Gcm1	UTSW	9	77,971,923 (GRCm39)	missense	possibly damaging	0.68
R1271:Gcm1	UTSW	9	77,966,859 (GRCm39)	missense	probably benign	0.05
R1421:Gcm1	UTSW	9	77,966,982 (GRCm39)	missense	probably damaging	1.00
R1481:Gcm1	UTSW	9	77,966,999 (GRCm39)	nonsense	probably null
R1884:Gcm1	UTSW	9	77,966,861 (GRCm39)	missense	probably benign	0.01
R1907:Gcm1	UTSW	9	77,972,055 (GRCm39)	missense	probably benign	0.00
R2029:Gcm1	UTSW	9	77,972,326 (GRCm39)	missense	possibly damaging	0.70
R2160:Gcm1	UTSW	9	77,968,662 (GRCm39)	missense	probably benign	0.05
R3103:Gcm1	UTSW	9	77,971,734 (GRCm39)	missense	probably damaging	0.98
R3944:Gcm1	UTSW	9	77,967,098 (GRCm39)	nonsense	probably null
R5292:Gcm1	UTSW	9	77,968,708 (GRCm39)	missense	probably damaging	1.00
R5769:Gcm1	UTSW	9	77,972,249 (GRCm39)	missense	probably benign
R6446:Gcm1	UTSW	9	77,967,065 (GRCm39)	missense	probably benign	0.08
R6465:Gcm1	UTSW	9	77,972,151 (GRCm39)	missense	probably damaging	0.99
R7114:Gcm1	UTSW	9	77,967,061 (GRCm39)	missense	probably damaging	1.00
R7212:Gcm1	UTSW	9	77,966,925 (GRCm39)	missense	possibly damaging	0.84
R7398:Gcm1	UTSW	9	77,971,961 (GRCm39)	missense	probably benign	0.00
R7584:Gcm1	UTSW	9	77,971,749 (GRCm39)	missense	possibly damaging	0.62
R8130:Gcm1	UTSW	9	77,971,816 (GRCm39)	missense	probably benign	0.01

Posted On

2015-12-18