Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01960:Cdc42ep4'

182386

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdc42ep4

Ensembl Gene

ENSMUSG00000041598

Gene Name

CDC42 effector protein 4

Synonyms

Borg4, 1500041M20Rik, CEP4

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

IGL01960

Quality Score

Status

Chromosome

Chromosomal Location

113617676-113642707 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113619830 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 187 (V187A)

Ref Sequence

ENSEMBL: ENSMUSP00000114599 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053536] [ENSMUST00000106616] [ENSMUST00000131488] [ENSMUST00000153453]

AlphaFold

Q9JM96

Predicted Effect

probably benign
Transcript: ENSMUST00000053536
AA Change: V187A

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

SMART Domains

Protein: ENSMUSP00000060227
Gene: ENSMUSG00000041598
AA Change: V187A

Domain	Start	End	E-Value	Type
low complexity region	8	19	N/A	INTRINSIC
Pfam:PBD	26	83	1e-13	PFAM
Pfam:BORG_CEP	110	224	1e-35	PFAM
low complexity region	280	308	N/A	INTRINSIC
low complexity region	340	346	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106616
AA Change: V187A

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

SMART Domains

Protein: ENSMUSP00000102227
Gene: ENSMUSG00000041598
AA Change: V187A

Domain	Start	End	E-Value	Type
low complexity region	8	19	N/A	INTRINSIC
Pfam:PBD	26	83	2.6e-14	PFAM
Pfam:BORG_CEP	110	219	1.6e-24	PFAM
low complexity region	280	308	N/A	INTRINSIC
low complexity region	340	346	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131488
AA Change: V187A

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

SMART Domains

Protein: ENSMUSP00000114599
Gene: ENSMUSG00000041598
AA Change: V187A

Domain	Start	End	E-Value	Type
low complexity region	8	19	N/A	INTRINSIC
Pfam:PBD	26	83	1.1e-13	PFAM
Pfam:BORG_CEP	110	194	7.7e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153453

SMART Domains

Protein: ENSMUSP00000120316
Gene: ENSMUSG00000041598

Domain	Start	End	E-Value	Type
low complexity region	8	19	N/A	INTRINSIC
Pfam:PBD	26	83	1.6e-14	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a member of the CDC42-binding protein family. Members of this family interact with Rho family GTPases and regulate the organization of the actin cytoskeleton. This protein has been shown to bind both CDC42 and TC10 GTPases in a GTP-dependent manner. When overexpressed in fibroblasts, this protein was able to induce pseudopodia formation, which suggested a role in inducing actin filament assembly and cell shape control. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display impaired glutamate clearance and motor learning. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	G	A	4: 129,906,177 (GRCm39)		probably benign	Het
Adh7	T	C	3: 137,932,043 (GRCm39)	I219T	probably damaging	Het
Ankmy1	C	A	1: 92,799,385 (GRCm39)		probably benign	Het
Aoc1	A	G	6: 48,885,537 (GRCm39)	I681V	probably benign	Het
Arfgap3	T	C	15: 83,197,758 (GRCm39)	T333A	probably benign	Het
Cyp4f40	G	A	17: 32,878,535 (GRCm39)	G26R	probably benign	Het
Dnah7b	T	A	1: 46,163,497 (GRCm39)		probably benign	Het
Dnajb4	T	C	3: 151,892,176 (GRCm39)	E219G	probably damaging	Het
Dnmt3b	A	G	2: 153,518,631 (GRCm39)	K578R	possibly damaging	Het
Dst	A	T	1: 34,329,570 (GRCm39)	D4649V	probably damaging	Het
Fam20c	T	C	5: 138,792,075 (GRCm39)	S391P	probably damaging	Het
Fbxw10	A	T	11: 62,767,582 (GRCm39)	Y801F	probably damaging	Het
Frem2	T	G	3: 53,429,725 (GRCm39)	E2775A	probably benign	Het
Frmd4b	A	T	6: 97,272,741 (GRCm39)	S830T	possibly damaging	Het
Gatad2a	T	G	8: 70,362,598 (GRCm39)	S581R	possibly damaging	Het
Gpcpd1	C	T	2: 132,381,818 (GRCm39)		probably null	Het
Igsf10	A	G	3: 59,226,158 (GRCm39)	L2505P	probably benign	Het
Igsf9b	A	G	9: 27,239,902 (GRCm39)	D649G	possibly damaging	Het
Impact	T	C	18: 13,107,815 (GRCm39)	C28R	probably benign	Het
Ino80d	G	T	1: 63,097,306 (GRCm39)	Q863K	probably damaging	Het
Iqsec1	A	C	6: 90,653,762 (GRCm39)	M675R	probably damaging	Het
Kcng3	C	T	17: 83,895,279 (GRCm39)	V396I	probably damaging	Het
Klhl18	A	T	9: 110,279,814 (GRCm39)	D60E	probably benign	Het
Krtap7-1	C	T	16: 89,305,156 (GRCm39)		probably benign	Het
Mal2	T	A	15: 54,461,941 (GRCm39)	Y145*	probably null	Het
Mcpt8	A	T	14: 56,319,864 (GRCm39)		probably null	Het
Mdn1	A	G	4: 32,758,393 (GRCm39)	D4810G	probably benign	Het
Med24	T	C	11: 98,598,368 (GRCm39)	I766V	probably benign	Het
Mga	G	A	2: 119,769,138 (GRCm39)	V1477M	probably damaging	Het
Mybph	T	A	1: 134,121,663 (GRCm39)	V112E	probably benign	Het
Nmur2	A	T	11: 55,931,337 (GRCm39)	S125T	probably damaging	Het
Or2w3	T	C	11: 58,556,691 (GRCm39)	V102A	probably benign	Het
Or6c212	A	G	10: 129,558,756 (GRCm39)	I219T	probably damaging	Het
Or8b44	A	T	9: 38,410,003 (GRCm39)	I13F	probably damaging	Het
Otop3	A	G	11: 115,231,795 (GRCm39)	N220S	probably damaging	Het
Pacsin1	T	G	17: 27,923,809 (GRCm39)		probably null	Het
Pcsk1	A	G	13: 75,241,286 (GRCm39)	R89G	possibly damaging	Het
Pde2a	A	T	7: 101,153,947 (GRCm39)	E509V	probably benign	Het
Pex1	T	C	5: 3,677,588 (GRCm39)		probably benign	Het
Ppp4r4	T	G	12: 103,547,753 (GRCm39)		probably benign	Het
Pygb	T	A	2: 150,655,403 (GRCm39)	N251K	probably benign	Het
Rsf1	C	T	7: 97,310,782 (GRCm39)	T504I	probably benign	Het
Slc5a11	A	T	7: 122,869,163 (GRCm39)	T584S	probably benign	Het
Smad2	G	A	18: 76,395,555 (GRCm39)		probably benign	Het
Srsf6	G	A	2: 162,775,674 (GRCm39)	R161H	probably damaging	Het
Tbx3	T	A	5: 119,820,708 (GRCm39)	S573T	probably benign	Het
Tecpr1	C	T	5: 144,153,737 (GRCm39)	R172Q	probably benign	Het
Ttn	T	A	2: 76,619,244 (GRCm39)		probably null	Het
Ubr2	T	C	17: 47,284,893 (GRCm39)	M542V	probably benign	Het
Unc80	T	C	1: 66,647,659 (GRCm39)		probably benign	Het
Vmn1r222	T	A	13: 23,416,315 (GRCm39)	K299N	probably benign	Het
Wwp1	A	T	4: 19,662,115 (GRCm39)		probably benign	Het
Zbtb46	T	A	2: 181,065,928 (GRCm39)	H74L	possibly damaging	Het
Zfp106	A	T	2: 120,354,524 (GRCm39)	L1416I	probably damaging	Het
Zfp106	A	G	2: 120,369,803 (GRCm39)	L73S	probably benign	Het
Zfp667	G	A	7: 6,308,336 (GRCm39)	G335R	probably benign	Het

Other mutations in Cdc42ep4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01098:Cdc42ep4	APN	11	113,620,328 (GRCm39)	missense	probably damaging	1.00
IGL01715:Cdc42ep4	APN	11	113,620,268 (GRCm39)	missense	probably damaging	1.00
IGL02118:Cdc42ep4	APN	11	113,619,942 (GRCm39)	missense	probably benign	0.02
IGL02983:Cdc42ep4	APN	11	113,619,995 (GRCm39)	missense	probably benign	0.13
R0621:Cdc42ep4	UTSW	11	113,619,522 (GRCm39)	missense	probably damaging	1.00
R1590:Cdc42ep4	UTSW	11	113,619,392 (GRCm39)	missense	possibly damaging	0.82
R1663:Cdc42ep4	UTSW	11	113,620,277 (GRCm39)	missense	probably damaging	1.00
R1791:Cdc42ep4	UTSW	11	113,620,163 (GRCm39)	missense	probably damaging	1.00
R2360:Cdc42ep4	UTSW	11	113,619,528 (GRCm39)	missense	probably damaging	1.00
R6017:Cdc42ep4	UTSW	11	113,620,192 (GRCm39)	missense	probably benign	0.03
R6053:Cdc42ep4	UTSW	11	113,619,812 (GRCm39)	missense	probably damaging	1.00
R6967:Cdc42ep4	UTSW	11	113,619,998 (GRCm39)	missense	possibly damaging	0.79
R7066:Cdc42ep4	UTSW	11	113,620,044 (GRCm39)	missense	probably damaging	1.00
R7082:Cdc42ep4	UTSW	11	113,619,944 (GRCm39)	missense	probably benign
R7556:Cdc42ep4	UTSW	11	113,619,366 (GRCm39)	missense	probably damaging	1.00
R7982:Cdc42ep4	UTSW	11	113,619,402 (GRCm39)	missense	possibly damaging	0.55
R8964:Cdc42ep4	UTSW	11	113,620,278 (GRCm39)	missense	probably damaging	0.99

Posted On

2014-05-07