Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02124:Cplx4'

280784

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cplx4

Ensembl Gene

ENSMUSG00000024519

Gene Name

complexin 4

Synonyms

A930004D23Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02124

Quality Score

Status

Chromosome

Chromosomal Location

66088793-66103249 bp(-) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

T to C at 66103123 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000025397 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025397]

AlphaFold

Q80WM3

Predicted Effect

probably benign
Transcript: ENSMUST00000025397

SMART Domains

Protein: ENSMUSP00000025397
Gene: ENSMUSG00000024519

Domain	Start	End	E-Value	Type
Pfam:Synaphin	1	140	2.7e-49	PFAM

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 likely encodes a member of the complexin family. The encoded protein may be involved in synaptic vesicle exocytosis. [provided by RefSeq, Jan 2009]
PHENOTYPE: Mice homozygous for a null mutation are viable and fertile displaying only slight abnormalities in eye electrophysiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810024B03Rik	T	C	2: 127,028,654 (GRCm39)	R182G	possibly damaging	Het
Casd1	A	T	6: 4,624,142 (GRCm39)	I312F	probably benign	Het
Cdc27	T	C	11: 104,413,557 (GRCm39)	T395A	probably damaging	Het
Cep152	A	G	2: 125,405,381 (GRCm39)	I1717T	probably benign	Het
Ces1f	A	T	8: 93,992,488 (GRCm39)	V321E	possibly damaging	Het
Chrnb3	T	C	8: 27,886,832 (GRCm39)		probably benign	Het
Col14a1	T	A	15: 55,327,099 (GRCm39)	F1416L	unknown	Het
Cubn	A	T	2: 13,386,648 (GRCm39)	I1539N	probably damaging	Het
Dapk1	A	G	13: 60,878,696 (GRCm39)	T562A	probably benign	Het
Dnmt1	C	A	9: 20,819,845 (GRCm39)	V1433F	probably damaging	Het
Dytn	A	G	1: 63,680,251 (GRCm39)	L436P	probably damaging	Het
Evpl	T	C	11: 116,117,841 (GRCm39)	I783V	probably benign	Het
Fat4	T	A	3: 38,942,553 (GRCm39)	V482E	probably damaging	Het
Fcrlb	T	A	1: 170,734,927 (GRCm39)	E400V	probably benign	Het
Folh1	T	C	7: 86,374,626 (GRCm39)	D656G	probably damaging	Het
Frem3	A	C	8: 81,339,723 (GRCm39)	D672A	probably damaging	Het
G3bp2	A	G	5: 92,221,106 (GRCm39)	M3T	possibly damaging	Het
Gm973	C	T	1: 59,621,632 (GRCm39)	Q26*	probably null	Het
Hsp90b1	T	C	10: 86,541,222 (GRCm39)		probably benign	Het
Hspg2	G	A	4: 137,246,125 (GRCm39)		probably null	Het
Lpin3	T	C	2: 160,737,753 (GRCm39)		probably null	Het
Mtss2	G	A	8: 111,464,256 (GRCm39)	R295Q	probably damaging	Het
Muc5b	G	T	7: 141,409,369 (GRCm39)	W1151L	unknown	Het
Myo3a	A	G	2: 22,467,538 (GRCm39)	Y264C	probably benign	Het
Or4c123	A	G	2: 89,127,407 (GRCm39)	V69A	probably benign	Het
Or55b3	T	C	7: 102,126,742 (GRCm39)	T112A	possibly damaging	Het
Or5p60	T	A	7: 107,724,249 (GRCm39)	I74L	probably benign	Het
Pecam1	C	T	11: 106,581,807 (GRCm39)	G380S	probably damaging	Het
Phf21a	C	T	2: 92,179,767 (GRCm39)	T345I	probably damaging	Het
Polg	G	A	7: 79,109,485 (GRCm39)	S444L	probably damaging	Het
Prickle1	A	G	15: 93,401,027 (GRCm39)	Y486H	probably damaging	Het
Scg5	G	A	2: 113,622,382 (GRCm39)		probably benign	Het
Septin5	G	T	16: 18,443,579 (GRCm39)	D123E	probably damaging	Het
Skint6	G	A	4: 112,944,993 (GRCm39)	T483I	probably benign	Het
Tep1	A	T	14: 51,091,581 (GRCm39)		probably benign	Het
Tepsin	T	C	11: 119,982,547 (GRCm39)	R440G	probably benign	Het
Tmem214	G	A	5: 31,030,090 (GRCm39)	A296T	probably benign	Het
Trpm4	A	T	7: 44,959,947 (GRCm39)	V649E	probably damaging	Het
Usf3	C	A	16: 44,040,019 (GRCm39)	Q1500K	possibly damaging	Het
Vmn1r231	T	C	17: 21,110,568 (GRCm39)	S116G	probably damaging	Het
Vmn1r45	T	A	6: 89,910,035 (GRCm39)	I312L	probably benign	Het

Other mutations in Cplx4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00755:Cplx4	APN	18	66,090,166 (GRCm39)	splice site	probably benign
IGL01577:Cplx4	APN	18	66,103,015 (GRCm39)	missense	probably damaging	1.00
IGL02137:Cplx4	APN	18	66,090,125 (GRCm39)	missense	probably benign	0.06
IGL02885:Cplx4	APN	18	66,089,984 (GRCm39)	missense	probably damaging	1.00
IGL03263:Cplx4	APN	18	66,100,559 (GRCm39)	missense	probably benign	0.04
R0894:Cplx4	UTSW	18	66,090,116 (GRCm39)	missense	possibly damaging	0.92
R2107:Cplx4	UTSW	18	66,089,964 (GRCm39)	missense	probably benign	0.05
R3767:Cplx4	UTSW	18	66,102,998 (GRCm39)	missense	probably benign	0.39
R3768:Cplx4	UTSW	18	66,102,998 (GRCm39)	missense	probably benign	0.39
R3769:Cplx4	UTSW	18	66,102,998 (GRCm39)	missense	probably benign	0.39
R4772:Cplx4	UTSW	18	66,103,048 (GRCm39)	missense	possibly damaging	0.94
R5347:Cplx4	UTSW	18	66,103,157 (GRCm39)	start gained	probably benign
R7081:Cplx4	UTSW	18	66,100,538 (GRCm39)	critical splice donor site	probably null
R7231:Cplx4	UTSW	18	66,090,123 (GRCm39)	missense	probably damaging	1.00
R7953:Cplx4	UTSW	18	66,090,190 (GRCm39)	splice site	probably null
R8043:Cplx4	UTSW	18	66,090,190 (GRCm39)	splice site	probably null
R8469:Cplx4	UTSW	18	66,090,083 (GRCm39)	missense	possibly damaging	0.56
R9041:Cplx4	UTSW	18	66,103,097 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16