Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4280001:Gcm1'

554419

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

PIT4280001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

77959240-77972906 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77966915 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 45 (Y45H)

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: Y45H

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

SMART Domains

Protein: ENSMUSP00000024104
Gene: ENSMUSG00000023333
AA Change: Y45H

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

Coding Region Coverage

1x: 93.1%
3x: 90.9%
10x: 85.5%
20x: 73.2%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L24Rik	A	G	11: 83,331,660 (GRCm39)	D161G	probably damaging	Het
Acer2	C	T	4: 86,805,320 (GRCm39)	L95F	probably damaging	Het
Adam15	C	T	3: 89,251,285 (GRCm39)		probably null	Het
Aoc1l3	A	T	6: 48,964,054 (GRCm39)	M21L	probably benign	Het
Bmi1	T	A	2: 18,687,820 (GRCm39)	Y98*	probably null	Het
Cdon	T	C	9: 35,398,231 (GRCm39)	C983R	probably damaging	Het
Cfap91	C	T	16: 38,153,135 (GRCm39)	V160I	probably benign	Het
Col12a1	T	C	9: 79,585,387 (GRCm39)	R1297G	probably damaging	Het
Cpd	A	T	11: 76,681,850 (GRCm39)	M1132K	probably benign	Het
Dnah17	T	A	11: 117,989,408 (GRCm39)	R1267W	possibly damaging	Het
Dnah9	G	A	11: 65,895,839 (GRCm39)	A2512V	probably benign	Het
Eri3	G	A	4: 117,439,831 (GRCm39)	G175D	probably damaging	Het
Fbxo9	C	A	9: 77,994,793 (GRCm39)	W244L	probably damaging	Het
Fgfr3	A	T	5: 33,889,576 (GRCm39)	H343L	probably benign	Het
Fmnl2	G	A	2: 53,008,208 (GRCm39)	A803T	unknown	Het
Fmnl3	A	G	15: 99,219,134 (GRCm39)		probably null	Het
Fth1	C	A	19: 9,961,973 (GRCm39)	A104E	probably damaging	Het
Gm5157	C	G	7: 20,919,007 (GRCm39)	G179R	probably damaging	Het
Gpr179	A	G	11: 97,234,941 (GRCm39)	I463T	probably damaging	Het
Gpr35	T	C	1: 92,910,356 (GRCm39)	Y23H	probably damaging	Het
Inpp4b	C	T	8: 82,761,046 (GRCm39)	H647Y	probably benign	Het
Kif6	A	T	17: 50,062,148 (GRCm39)	K436M	probably benign	Het
Lacc1	T	A	14: 77,272,517 (GRCm39)	Q93L	probably damaging	Het
Lamc1	T	C	1: 153,119,217 (GRCm39)	R801G	probably damaging	Het
Lrp2bp	T	G	8: 46,476,048 (GRCm39)	V263G	probably damaging	Het
Magi3	T	A	3: 103,961,668 (GRCm39)	K453N	probably damaging	Het
Mfsd6	T	A	1: 52,700,039 (GRCm39)	Y703F	probably benign	Het
Mms22l	A	G	4: 24,581,149 (GRCm39)	T820A	probably benign	Het
Ndufa12	T	C	10: 94,034,994 (GRCm39)		probably null	Het
Nlrp12	A	T	7: 3,290,063 (GRCm39)	C150S	possibly damaging	Het
Noc4l	G	A	5: 110,799,305 (GRCm39)	T159I	probably benign	Het
Olfml2b	T	A	1: 170,475,305 (GRCm39)	C77S	probably damaging	Het
Or4c12	A	T	2: 89,774,087 (GRCm39)	I124N	probably damaging	Het
Or9a4	C	A	6: 40,548,650 (GRCm39)	T110K	probably damaging	Het
Pdzd2	A	G	15: 12,399,374 (GRCm39)	V784A	probably damaging	Het
Pip5kl1	A	T	2: 32,473,470 (GRCm39)	Y369F	probably benign	Het
Pkdrej	A	T	15: 85,704,136 (GRCm39)	I600N	probably benign	Het
Psg19	T	C	7: 18,530,831 (GRCm39)	I108V	probably damaging	Het
Pxdn	G	A	12: 30,045,327 (GRCm39)	V539M	probably damaging	Het
Resf1	T	G	6: 149,227,023 (GRCm39)	I23S	probably benign	Het
Rsbn1l	T	A	5: 21,124,653 (GRCm39)	H383L	probably damaging	Het
Scamp2	A	T	9: 57,488,076 (GRCm39)	N118I	probably damaging	Het
Scn2a	T	C	2: 65,546,074 (GRCm39)	V879A	probably damaging	Het
Scn8a	G	A	15: 100,855,370 (GRCm39)	E172K	probably damaging	Het
Slc16a6	C	T	11: 109,349,419 (GRCm39)	C214Y	possibly damaging	Het
Stag1	A	G	9: 100,824,769 (GRCm39)	T922A	possibly damaging	Het
Tarbp1	T	C	8: 127,157,586 (GRCm39)	H1307R	probably damaging	Het
Tut1	T	G	19: 8,936,626 (GRCm39)	V150G	probably benign	Het
Ubr2	G	A	17: 47,255,789 (GRCm39)	R1371W	probably damaging	Het
Vmn2r124	A	G	17: 18,283,487 (GRCm39)	N394D	probably benign	Het
Vmn2r63	T	C	7: 42,553,409 (GRCm39)	T616A	probably damaging	Het
Zp3	G	A	5: 136,013,318 (GRCm39)	V217M	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
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

Predicted Primers

PCR Primer
(F):5'- ACCAAAGTCTCTTGCCCTG -3'
(R):5'- GAGCATTTAAACAGACTCTCGGTC -3'

Sequencing Primer
(F):5'- TTGCCCTGCCCCCTTGG -3'
(R):5'- CTGGCTTTGTCACAGATGGC -3'

Posted On

2019-06-07