Mutagenetix > Incidental Mutation

Incidental Mutation 'R6017:Cdc42ep4'

478657

Institutional Source

Beutler Lab

Gene Symbol

Cdc42ep4

Ensembl Gene

ENSMUSG00000041598

Gene Name

CDC42 effector protein 4

Synonyms

Borg4, 1500041M20Rik, CEP4

MMRRC Submission

044191-MU

Accession Numbers

Essential gene?

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

Stock #

R6017 (G1)

Quality Score

218.009

Status

Validated

Chromosome

Chromosomal Location

113617676-113642707 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 113620192 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 66 (D66E)

Ref Sequence

ENSEMBL: ENSMUSP00000120316 (fasta)

Gene Model

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

AlphaFold

Q9JM96

Predicted Effect

probably benign
Transcript: ENSMUST00000053536
AA Change: D66E

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000060227
Gene: ENSMUSG00000041598
AA Change: D66E

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: D66E

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000102227
Gene: ENSMUSG00000041598
AA Change: D66E

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: D66E

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000114599
Gene: ENSMUSG00000041598
AA Change: D66E

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
AA Change: D66E

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000120316
Gene: ENSMUSG00000041598
AA Change: D66E

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.0%
20x: 90.5%

Validation Efficiency

97% (62/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	C	10: 10,325,780 (GRCm39)	I56M	probably damaging	Het
Adgrv1	A	T	13: 81,545,542 (GRCm39)	L5581*	probably null	Het
Arpc2	C	A	1: 74,301,645 (GRCm39)	H193N	probably benign	Het
B3galt5	A	G	16: 96,116,384 (GRCm39)	T6A	probably benign	Het
Bod1l	A	T	5: 41,976,103 (GRCm39)	V1737E	probably benign	Het
Cacfd1	T	G	2: 26,903,440 (GRCm39)		probably benign	Het
Cldn1	G	T	16: 26,181,969 (GRCm39)	T80N	probably damaging	Het
Cmtm1	C	A	8: 105,037,583 (GRCm39)		probably benign	Het
Cntnap5c	A	T	17: 58,411,693 (GRCm39)	I526F	probably benign	Het
Copb1	T	C	7: 113,836,032 (GRCm39)	K450E	probably benign	Het
Crebrf	A	C	17: 26,976,823 (GRCm39)	I416L	probably benign	Het
Csmd3	C	A	15: 48,177,408 (GRCm39)	V377F	possibly damaging	Het
Cyp1a2	T	C	9: 57,588,313 (GRCm39)	K304E	probably damaging	Het
Cyp2d26	A	G	15: 82,674,774 (GRCm39)	S403P	possibly damaging	Het
Cyp4a12a	T	A	4: 115,183,476 (GRCm39)	C198*	probably null	Het
Ddx11	A	G	17: 66,437,012 (GRCm39)	D102G		Het
Dpys	T	A	15: 39,710,114 (GRCm39)	Q105L	probably null	Het
Dsn1	C	A	2: 156,838,162 (GRCm39)	R334L	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Epha8	G	T	4: 136,659,054 (GRCm39)	H867N	probably damaging	Het
Ephb3	T	C	16: 21,040,781 (GRCm39)	L643P	probably damaging	Het
Fbxo44	G	T	4: 148,243,010 (GRCm39)	H83Q	probably benign	Het
Gm13102	T	C	4: 143,835,807 (GRCm39)	Y477H	possibly damaging	Het
Gm7347	T	C	5: 26,262,276 (GRCm39)	T82A	probably benign	Het
Gss	C	A	2: 155,429,385 (GRCm39)	A36S	probably benign	Het
Hepacam	A	G	9: 37,292,056 (GRCm39)	D128G	probably benign	Het
Hepacam2	C	A	6: 3,483,332 (GRCm39)	V226F	probably damaging	Het
Hgfac	T	C	5: 35,201,739 (GRCm39)	Y291H	probably damaging	Het
Ip6k2	G	A	9: 108,674,466 (GRCm39)	R88H	probably benign	Het
Irx5	T	A	8: 93,084,878 (GRCm39)	Y23N	probably damaging	Het
Kcnf1	T	C	12: 17,225,082 (GRCm39)	M380V	probably damaging	Het
Kcnj1	A	T	9: 32,305,400 (GRCm39)		probably benign	Het
Kcnk12	T	C	17: 88,054,164 (GRCm39)	E166G	probably damaging	Het
Kctd16	T	C	18: 40,391,996 (GRCm39)	C195R	probably damaging	Het
Kif28	T	A	1: 179,527,018 (GRCm39)	I718F	probably benign	Het
Lce1e	T	A	3: 92,615,240 (GRCm39)	K36*	probably null	Het
Map4	T	C	9: 109,863,687 (GRCm39)	L304P	probably benign	Het
Mettl17	C	T	14: 52,129,074 (GRCm39)		probably benign	Het
Mpp4	T	C	1: 59,160,518 (GRCm39)	D595G	probably damaging	Het
Myo18a	A	G	11: 77,732,349 (GRCm39)	K1282E	probably damaging	Het
Nf2	A	T	11: 4,766,137 (GRCm39)	V131D	possibly damaging	Het
Or7g35	T	C	9: 19,496,730 (GRCm39)	V299A	probably benign	Het
Or8b3	A	T	9: 38,314,916 (GRCm39)	M249L	probably benign	Het
Oxsr1	A	G	9: 119,093,843 (GRCm39)	L270S	probably benign	Het
Plekhg2	G	A	7: 28,062,309 (GRCm39)	T536I	probably damaging	Het
Ppp1r9a	T	A	6: 4,906,363 (GRCm39)	V306D	probably benign	Het
Ptk6	C	T	2: 180,837,605 (GRCm39)	C438Y	probably benign	Het
Scfd1	T	C	12: 51,492,461 (GRCm39)	V590A	probably damaging	Het
Serpina1b	A	G	12: 103,695,531 (GRCm39)	S337P	probably damaging	Het
Skor2	T	A	18: 76,946,622 (GRCm39)	C115S	unknown	Het
Slc2a7	T	C	4: 150,249,629 (GRCm39)	S407P	probably damaging	Het
Slc8a1	A	G	17: 81,955,683 (GRCm39)	S452P	probably damaging	Het
Spata31d1c	A	G	13: 65,182,893 (GRCm39)	D145G	possibly damaging	Het
Spata6	C	A	4: 111,632,024 (GRCm39)	T145K	probably damaging	Het
Stab1	C	T	14: 30,863,501 (GRCm39)	R2087H	probably benign	Het
Stk24	C	T	14: 121,539,657 (GRCm39)	V180M	probably benign	Het
Trrap	A	G	5: 144,781,051 (GRCm39)	T3271A	probably damaging	Het
Tyro3	T	A	2: 119,647,147 (GRCm39)	W755R	probably damaging	Het
Ush2a	T	C	1: 188,689,711 (GRCm39)		probably null	Het
Uts2b	T	C	16: 27,179,793 (GRCm39)		probably null	Het
Vmn2r105	T	A	17: 20,428,889 (GRCm39)	H729L	probably damaging	Het
Vps35l	T	A	7: 118,409,144 (GRCm39)	V635D	probably damaging	Het
Wdfy3	T	C	5: 101,999,225 (GRCm39)	I3068V	probably benign	Het
Zfp457	G	A	13: 67,441,763 (GRCm39)	H175Y	probably damaging	Het
Zfp758	A	G	17: 22,592,712 (GRCm39)	D40G	probably damaging	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
IGL01960:Cdc42ep4	APN	11	113,619,830 (GRCm39)	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TCTCATTGAGCTGAGGCAGG -3'
(R):5'- ATACCTGCCTGTTGCCTTGG -3'

Sequencing Primer
(F):5'- CAGGGACATGGCATTCTTGAC -3'
(R):5'- GCCCATTCTCAAACAGCTGGTG -3'

Posted On

2017-06-26