Mutagenetix > Incidental Mutation

Incidental Mutation 'R1421:Gcm1'

159820

Institutional Source

Beutler Lab

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

MMRRC Submission

039477-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1421 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77959240-77972906 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77966982 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 67 (H67L)

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 damaging
Transcript: ENSMUST00000024104
AA Change: H67L

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

SMART Domains

Protein: ENSMUSP00000024104
Gene: ENSMUSG00000023333
AA Change: H67L

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

Meta Mutation Damage Score

0.9418

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.7%

Validation Efficiency

96% (54/56)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,520,923 (GRCm39)	T1344A	probably benign	Het
Abcf1	G	A	17: 36,271,801 (GRCm39)	A375V	probably damaging	Het
Adam20	T	A	8: 41,249,784 (GRCm39)	H631Q	possibly damaging	Het
Adcy10	T	C	1: 165,391,516 (GRCm39)	S1258P	probably damaging	Het
Agtpbp1	A	G	13: 59,643,389 (GRCm39)	I717T	possibly damaging	Het
Ahnak	T	A	19: 8,992,995 (GRCm39)	F4760I	possibly damaging	Het
Ano6	A	G	15: 95,811,266 (GRCm39)	K122R	probably benign	Het
Arhgap5	T	C	12: 52,563,631 (GRCm39)	C201R	probably damaging	Het
Atg16l1	T	C	1: 87,714,080 (GRCm39)		probably benign	Het
Cdhr3	A	T	12: 33,110,291 (GRCm39)	I331K	probably damaging	Het
Coq8a	A	G	1: 179,998,006 (GRCm39)		probably benign	Het
Crebbp	A	G	16: 3,942,511 (GRCm39)	V662A	probably damaging	Het
Cspg4	T	A	9: 56,803,910 (GRCm39)	M1667K	probably benign	Het
Dnah7a	A	G	1: 53,580,032 (GRCm39)		probably benign	Het
Dnajc6	A	T	4: 101,468,513 (GRCm39)	Y251F	probably damaging	Het
Dpy19l4	A	T	4: 11,304,011 (GRCm39)	M133K	probably benign	Het
Emb	T	C	13: 117,408,624 (GRCm39)	Y322H	probably benign	Het
Gls2	A	T	10: 128,037,217 (GRCm39)	K253*	probably null	Het
Gm28042	T	A	2: 119,866,944 (GRCm39)	S196T	probably benign	Het
Gm43302	T	C	5: 105,365,215 (GRCm39)	T598A	probably benign	Het
Gramd1a	T	A	7: 30,842,291 (GRCm39)	Q90L	probably damaging	Het
Grhl2	A	G	15: 37,309,960 (GRCm39)	Y352C	probably damaging	Het
Ifi203-ps	T	C	1: 173,625,563 (GRCm39)		noncoding transcript	Het
Ifitm2	T	C	7: 140,534,972 (GRCm39)	I121V	probably benign	Het
Insyn2a	A	T	7: 134,500,960 (GRCm39)		probably benign	Het
Kptn	T	G	7: 15,856,949 (GRCm39)		probably benign	Het
L2hgdh	C	T	12: 69,748,092 (GRCm39)	D345N	probably benign	Het
Lgals12	T	C	19: 7,584,079 (GRCm39)	H6R	probably benign	Het
Lrrc4b	A	G	7: 44,110,475 (GRCm39)	I116V	probably benign	Het
Misp	A	G	10: 79,662,681 (GRCm39)	D366G	probably damaging	Het
Nav1	T	C	1: 135,512,748 (GRCm39)	E104G	probably damaging	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Parp1	T	C	1: 180,427,653 (GRCm39)		probably benign	Het
Pikfyve	G	A	1: 65,310,470 (GRCm39)	G1919D	probably damaging	Het
Pomt1	A	G	2: 32,126,765 (GRCm39)		probably benign	Het
Prrc2b	C	T	2: 32,090,990 (GRCm39)	S454F	possibly damaging	Het
Selenbp1	T	C	3: 94,851,183 (GRCm39)	S360P	probably benign	Het
Slc6a12	T	A	6: 121,336,085 (GRCm39)	I352N	probably damaging	Het
Snx9	G	A	17: 5,952,759 (GRCm39)	G197D	probably benign	Het
Ston1	T	C	17: 88,943,221 (GRCm39)	V209A	probably benign	Het
Taf7l2	A	G	10: 115,949,343 (GRCm39)	V61A	probably damaging	Het
Tex36	A	T	7: 133,197,078 (GRCm39)		probably null	Het
Tnnt3	A	G	7: 142,065,103 (GRCm39)	E108G	probably damaging	Het
Vmn2r98	T	A	17: 19,285,440 (GRCm39)	F87I	probably damaging	Het
Vwa8	C	T	14: 79,145,670 (GRCm39)	R116C	probably damaging	Het
Wdr64	T	C	1: 175,594,716 (GRCm39)	I479T	possibly damaging	Het
Xrcc5	A	G	1: 72,349,636 (GRCm39)	N22D	probably benign	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het
Zfp735	C	A	11: 73,601,523 (GRCm39)	L156I	probably benign	Het
Zfp820	A	T	17: 22,038,861 (GRCm39)	Y156N	possibly damaging	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
IGL02820:Gcm1	APN	9	77,971,844 (GRCm39)	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- GCATAGATAGCACACACCTTGTCGC -3'
(R):5'- TAAACAGACTCTCGGTCTCCCTGG -3'

Sequencing Primer
(F):5'- catccaagaccatcagaaaacac -3'
(R):5'- GTCTCCCTGGCTGCCAC -3'

Posted On

2014-03-14