Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01577:Cplx4'

91284

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 #

IGL01577

Quality Score

Status

Chromosome

Chromosomal Location

66088793-66103249 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 66103015 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 35 (A35E)

Ref Sequence

ENSEMBL: ENSMUSP00000025397 (fasta)

Gene Model

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

AlphaFold

Q80WM3

Predicted Effect

probably damaging
Transcript: ENSMUST00000025397
AA Change: A35E

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

SMART Domains

Protein: ENSMUSP00000025397
Gene: ENSMUSG00000024519
AA Change: A35E

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	A	G	14: 29,709,232 (GRCm39)	T279A	probably benign	Het
Adamts9	T	G	6: 92,835,128 (GRCm39)		probably benign	Het
Apba3	G	A	10: 81,108,053 (GRCm39)	G403D	probably damaging	Het
Atp13a4	C	T	16: 29,260,102 (GRCm39)	V235I	possibly damaging	Het
Brca2	T	A	5: 150,465,085 (GRCm39)	C1616*	probably null	Het
Ccdc7a	T	A	8: 129,715,244 (GRCm39)	E280V	probably damaging	Het
Cdc42bpb	A	G	12: 111,268,477 (GRCm39)	I1241T	possibly damaging	Het
Cyp2j8	T	G	4: 96,367,308 (GRCm39)	D270A	probably damaging	Het
Cyp7a1	T	C	4: 6,273,618 (GRCm39)	D96G	probably damaging	Het
Ddx11	G	A	17: 66,446,398 (GRCm39)	R429H	possibly damaging	Het
Depdc5	C	A	5: 33,113,241 (GRCm39)	T419N	possibly damaging	Het
Diaph3	A	C	14: 87,143,467 (GRCm39)	I737R	probably damaging	Het
Elf2	C	T	3: 51,163,773 (GRCm39)		probably benign	Het
Epha6	T	A	16: 59,777,289 (GRCm39)	I673L	possibly damaging	Het
Ephx1	A	G	1: 180,829,545 (GRCm39)	M1T	probably null	Het
Fndc3a	A	T	14: 72,827,298 (GRCm39)	M84K	probably damaging	Het
Gad2	T	C	2: 22,571,292 (GRCm39)		probably benign	Het
Gba2	G	A	4: 43,573,753 (GRCm39)	Q180*	probably null	Het
Gga2	A	G	7: 121,589,006 (GRCm39)	Y574H	probably damaging	Het
Gm7168	A	T	17: 14,169,649 (GRCm39)	R339W	probably damaging	Het
Hdac10	T	C	15: 89,010,416 (GRCm39)	E302G	possibly damaging	Het
Ighv1-72	A	G	12: 115,721,893 (GRCm39)	V21A	possibly damaging	Het
Kif15	A	G	9: 122,825,399 (GRCm39)	E774G	probably benign	Het
Lig3	A	G	11: 82,674,303 (GRCm39)	N43S	probably benign	Het
Nmnat1	T	A	4: 149,554,135 (GRCm39)	D135V	possibly damaging	Het
Or1s2	A	G	19: 13,758,162 (GRCm39)	Y62C	probably damaging	Het
Or52n2	A	G	7: 104,542,730 (GRCm39)	F35S	probably benign	Het
Pak6	A	C	2: 118,524,129 (GRCm39)	K428T	probably benign	Het
Pou2f3	G	A	9: 43,058,178 (GRCm39)	Q56*	probably null	Het
Prep	T	C	10: 44,948,144 (GRCm39)		probably benign	Het
Psd4	C	T	2: 24,293,234 (GRCm39)	P700S	probably damaging	Het
Rad18	A	T	6: 112,642,302 (GRCm39)		probably benign	Het
Rbbp5	A	G	1: 132,420,393 (GRCm39)	K209E	possibly damaging	Het
Smurf1	G	A	5: 144,829,998 (GRCm39)	T335I	probably damaging	Het
Tbcd	G	A	11: 121,387,838 (GRCm39)	R72Q	probably damaging	Het
Tsga10	T	C	1: 37,874,538 (GRCm39)	T116A	possibly damaging	Het
Unc80	A	G	1: 66,569,127 (GRCm39)		probably null	Het
Vmn1r87	C	A	7: 12,865,775 (GRCm39)	V171F	probably benign	Het
Ythdc2	A	T	18: 44,991,349 (GRCm39)	M786L	probably benign	Het
Zmym6	C	A	4: 126,999,223 (GRCm39)	T469K	probably damaging	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
IGL02124:Cplx4	APN	18	66,103,123 (GRCm39)	utr 5 prime	probably benign
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

2013-12-09