Mutagenetix > Incidental Mutations

Incidental Mutation 'R7945:Cdc42ep1'

649314

Institutional Source

Beutler Lab

Gene Symbol

Cdc42ep1

Ensembl Gene

ENSMUSG00000049521

Gene Name

CDC42 effector protein (Rho GTPase binding) 1

Synonyms

MSE55, 1810058K22Rik, Borg5, CEP1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R7945 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78842624-78850897 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78847773 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 139 (S139R)

Ref Sequence

ENSEMBL: ENSMUSP00000060930 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044584] [ENSMUST00000059619]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000044584

SMART Domains

Protein: ENSMUSP00000036598
Gene: ENSMUSG00000043501

Domain	Start	End	E-Value	Type
GLECT	5	130	1.56e-47	SMART
Gal-bind_lectin	8	129	1.44e-43	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059619
AA Change: S139R

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000060930
Gene: ENSMUSG00000049521
AA Change: S139R

Domain	Start	End	E-Value	Type
PBD	38	72	2.55e-6	SMART
low complexity region	89	98	N/A	INTRINSIC
Pfam:BORG_CEP	115	232	2.5e-21	PFAM
low complexity region	234	266	N/A	INTRINSIC
low complexity region	272	291	N/A	INTRINSIC
low complexity region	330	347	N/A	INTRINSIC
low complexity region	377	391	N/A	INTRINSIC
low complexity region	395	406	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CDC42 is a member of the Rho GTPase family that regulates multiple cellular activities, including actin polymerization. The protein encoded by this gene is a CDC42 binding protein that mediates actin cytoskeleton reorganization at the plasma membrane. This protein is secreted and is primarily found in bone marrow. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	T	A	14: 49,773,213	T346S	probably benign	Het
4932438A13Rik	G	A	3: 36,965,893	V2093I	probably benign	Het
Adprhl1	T	A	8: 13,221,929	R1610W	probably damaging	Het
Afg3l1	C	A	8: 123,489,922	A300E	probably benign	Het
Ano6	A	G	15: 95,941,309	Y423C	probably damaging	Het
BC005561	G	T	5: 104,518,547	V312F	possibly damaging	Het
Casp8ap2	A	G	4: 32,645,909	T1661A	probably benign	Het
Cep57	A	G	9: 13,818,931	Y104H	probably damaging	Het
Chrna4	T	C	2: 181,028,661	D434G	probably benign	Het
Clec1a	T	C	6: 129,432,187	S159G	probably benign	Het
Cltc	A	T	11: 86,737,141	N60K	probably benign	Het
Cpq	T	A	15: 33,594,236	D464E	probably benign	Het
Ctcfl	A	C	2: 173,118,658	V44G	probably benign	Het
Dcstamp	T	A	15: 39,760,401	*471R	probably null	Het
Disp2	G	A	2: 118,792,789	R1334H	probably damaging	Het
Dspp	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	5: 104,178,361		probably benign	Het
Ephb3	A	G	16: 21,221,684	T811A	probably damaging	Het
Fam208b	A	T	13: 3,576,085	S1288R	probably benign	Het
Fbxo21	T	C	5: 118,008,147	Y612H	possibly damaging	Het
Gm4969	T	A	7: 19,100,086	K508N	unknown	Het
Gm8005	T	A	14: 42,438,373	D102V		Het
Golgb1	T	C	16: 36,914,104	S1279P	probably benign	Het
Hdgfl3	T	C	7: 81,933,958	Y22C	possibly damaging	Het
Hpse2	T	C	19: 43,384,809	N127S	probably benign	Het
Hrnr	G	T	3: 93,332,199	G3248V	unknown	Het
Krtap27-1	T	C	16: 88,671,452	N68S	probably benign	Het
Lipo3	T	C	19: 33,556,431	M334V	probably benign	Het
Lrrc34	A	G	3: 30,642,737		probably null	Het
Ltbp1	T	G	17: 75,390,551	*1713G	probably null	Het
Lypd6b	A	G	2: 49,943,600	E84G	probably damaging	Het
Mitd1	T	C	1: 37,885,265	Y68C	probably damaging	Het
Mrgprx2	T	C	7: 48,483,005	T22A	probably benign	Het
Mroh4	C	T	15: 74,624,705	E278K	probably damaging	Het
Mtmr4	T	C	11: 87,604,428	V437A	probably damaging	Het
Neb	T	C	2: 52,271,348	D2144G	probably damaging	Het
Obscn	T	A	11: 59,093,409	E1740V	probably damaging	Het
Olfr1104	A	G	2: 87,022,313	V77A	probably benign	Het
Olfr1344	A	G	7: 6,440,355	T152A	probably benign	Het
Pcsk1	G	A	13: 75,132,092	A679T	probably benign	Het
Pdap1	G	A	5: 145,131,439	A138V	probably damaging	Het
Pdzph1	T	C	17: 58,932,460	T958A	probably damaging	Het
Plekha5	T	A	6: 140,580,475	H946Q	possibly damaging	Het
Ppat	C	A	5: 76,915,391	V458L	probably benign	Het
Rock1	A	G	18: 10,116,831	L435P	probably damaging	Het
Rtn2	T	A	7: 19,287,062	S153R	probably benign	Het
Serpinb1c	A	T	13: 32,886,209	H123Q	probably benign	Het
Slc1a5	C	A	7: 16,789,882	R271S	possibly damaging	Het
Slc23a3	A	G	1: 75,129,396		probably null	Het
Slc7a6	C	T	8: 106,179,607	P157L	possibly damaging	Het
Syne2	A	T	12: 75,904,305	E410V	probably damaging	Het
Treh	T	C	9: 44,681,287	V63A	probably damaging	Het
Trim50	T	A	5: 135,353,302	W3R	probably benign	Het
Ttc6	T	G	12: 57,660,443	L712R	possibly damaging	Het
Ttn	G	T	2: 76,884,965	Q7928K	unknown	Het
Ugt3a1	T	C	15: 9,284,175		probably null	Het
Wapl	T	C	14: 34,677,148	I58T	probably benign	Het
Zgrf1	A	G	3: 127,562,760	E545G	probably benign	Het
Zmat4	T	A	8: 23,748,420	I6N	possibly damaging	Het
Zp3r	G	T	1: 130,596,823	P226Q	probably damaging	Het

Other mutations in Cdc42ep1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4378001:Cdc42ep1	UTSW	15	78849680	missense	possibly damaging	0.83
R2111:Cdc42ep1	UTSW	15	78847492	missense	probably damaging	1.00
R3689:Cdc42ep1	UTSW	15	78847429	missense	probably benign	0.03
R3690:Cdc42ep1	UTSW	15	78847429	missense	probably benign	0.03
R4456:Cdc42ep1	UTSW	15	78849891	missense	possibly damaging	0.72
R5714:Cdc42ep1	UTSW	15	78849777	missense	possibly damaging	0.93
R6374:Cdc42ep1	UTSW	15	78847449	missense	probably damaging	1.00
R7944:Cdc42ep1	UTSW	15	78847773	missense	possibly damaging	0.94
R7995:Cdc42ep1	UTSW	15	78847496	missense	probably damaging	1.00
R8010:Cdc42ep1	UTSW	15	78847799	missense	possibly damaging	0.62
R9293:Cdc42ep1	UTSW	15	78849825	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GATACGTCCTTCCTCAGCAAC -3'
(R):5'- TCTGTGTTATAAGGCCTAAGCAGG -3'

Sequencing Primer
(F):5'- AGGCCGCTCTGGAAACAC -3'
(R):5'- GGATACCCCACCTCCCTAAG -3'

Posted On

2020-09-15