Mutagenetix > Incidental Mutation

Incidental Mutation 'R7945:Cdc42ep1'

649314

Institutional Source

Beutler Lab

Gene Symbol

Cdc42ep1

Ensembl Gene

ENSMUSG00000049521

Gene Name

CDC42 effector protein 1

Synonyms

MSE55, 1810058K22Rik, Borg5, CEP1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R7945 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78726847-78735102 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78731973 bp (GRCm39)

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
Adprhl1	T	A	8: 13,271,929 (GRCm39)	R1610W	probably damaging	Het
Afg3l1	C	A	8: 124,216,661 (GRCm39)	A300E	probably benign	Het
Ano6	A	G	15: 95,839,190 (GRCm39)	Y423C	probably damaging	Het
Armh4	T	A	14: 50,010,670 (GRCm39)	T346S	probably benign	Het
Bltp1	G	A	3: 37,020,042 (GRCm39)	V2093I	probably benign	Het
Casp8ap2	A	G	4: 32,645,909 (GRCm39)	T1661A	probably benign	Het
Cep57	A	G	9: 13,730,227 (GRCm39)	Y104H	probably damaging	Het
Chrna4	T	C	2: 180,670,454 (GRCm39)	D434G	probably benign	Het
Clec1a	T	C	6: 129,409,150 (GRCm39)	S159G	probably benign	Het
Cltc	A	T	11: 86,627,967 (GRCm39)	N60K	probably benign	Het
Cpq	T	A	15: 33,594,382 (GRCm39)	D464E	probably benign	Het
Ctcfl	A	C	2: 172,960,451 (GRCm39)	V44G	probably benign	Het
Dcstamp	T	A	15: 39,623,797 (GRCm39)	*471R	probably null	Het
Disp2	G	A	2: 118,623,270 (GRCm39)	R1334H	probably damaging	Het
Dspp	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	5: 104,326,227 (GRCm39)		probably benign	Het
Ephb3	A	G	16: 21,040,434 (GRCm39)	T811A	probably damaging	Het
Fbxo21	T	C	5: 118,146,212 (GRCm39)	Y612H	possibly damaging	Het
Gm8005	T	A	14: 42,260,330 (GRCm39)	D102V		Het
Golgb1	T	C	16: 36,734,466 (GRCm39)	S1279P	probably benign	Het
Hdgfl3	T	C	7: 81,583,706 (GRCm39)	Y22C	possibly damaging	Het
Hpse2	T	C	19: 43,373,248 (GRCm39)	N127S	probably benign	Het
Hrnr	G	T	3: 93,239,506 (GRCm39)	G3248V	unknown	Het
Krtap27-1	T	C	16: 88,468,340 (GRCm39)	N68S	probably benign	Het
Lipo3	T	C	19: 33,533,831 (GRCm39)	M334V	probably benign	Het
Lrrc34	A	G	3: 30,696,886 (GRCm39)		probably null	Het
Ltbp1	T	G	17: 75,697,546 (GRCm39)	*1713G	probably null	Het
Lypd6b	A	G	2: 49,833,612 (GRCm39)	E84G	probably damaging	Het
Meiosin	T	A	7: 18,834,011 (GRCm39)	K508N	unknown	Het
Mitd1	T	C	1: 37,924,346 (GRCm39)	Y68C	probably damaging	Het
Mrgprx2	T	C	7: 48,132,753 (GRCm39)	T22A	probably benign	Het
Mroh4	C	T	15: 74,496,554 (GRCm39)	E278K	probably damaging	Het
Mtmr4	T	C	11: 87,495,254 (GRCm39)	V437A	probably damaging	Het
Neb	T	C	2: 52,161,360 (GRCm39)	D2144G	probably damaging	Het
Obscn	T	A	11: 58,984,235 (GRCm39)	E1740V	probably damaging	Het
Or2bd2	A	G	7: 6,443,354 (GRCm39)	T152A	probably benign	Het
Or8i2	A	G	2: 86,852,657 (GRCm39)	V77A	probably benign	Het
Pcsk1	G	A	13: 75,280,211 (GRCm39)	A679T	probably benign	Het
Pdap1	G	A	5: 145,068,249 (GRCm39)	A138V	probably damaging	Het
Pdzph1	T	C	17: 59,239,455 (GRCm39)	T958A	probably damaging	Het
Plekha5	T	A	6: 140,526,201 (GRCm39)	H946Q	possibly damaging	Het
Ppat	C	A	5: 77,063,238 (GRCm39)	V458L	probably benign	Het
Rock1	A	G	18: 10,116,831 (GRCm39)	L435P	probably damaging	Het
Rtn2	T	A	7: 19,020,987 (GRCm39)	S153R	probably benign	Het
Serpinb1c	A	T	13: 33,070,192 (GRCm39)	H123Q	probably benign	Het
Slc1a5	C	A	7: 16,523,807 (GRCm39)	R271S	possibly damaging	Het
Slc23a3	A	G	1: 75,106,040 (GRCm39)		probably null	Het
Slc7a6	C	T	8: 106,906,239 (GRCm39)	P157L	possibly damaging	Het
Syne2	A	T	12: 75,951,079 (GRCm39)	E410V	probably damaging	Het
Tasor2	A	T	13: 3,626,085 (GRCm39)	S1288R	probably benign	Het
Thoc2l	G	T	5: 104,666,413 (GRCm39)	V312F	possibly damaging	Het
Treh	T	C	9: 44,592,584 (GRCm39)	V63A	probably damaging	Het
Trim50	T	A	5: 135,382,156 (GRCm39)	W3R	probably benign	Het
Ttc6	T	G	12: 57,707,229 (GRCm39)	L712R	possibly damaging	Het
Ttn	G	T	2: 76,715,309 (GRCm39)	Q7928K	unknown	Het
Ugt3a1	T	C	15: 9,284,261 (GRCm39)		probably null	Het
Wapl	T	C	14: 34,399,105 (GRCm39)	I58T	probably benign	Het
Zgrf1	A	G	3: 127,356,409 (GRCm39)	E545G	probably benign	Het
Zmat4	T	A	8: 24,238,436 (GRCm39)	I6N	possibly damaging	Het
Zp3r	G	T	1: 130,524,560 (GRCm39)	P226Q	probably damaging	Het

Other mutations in Cdc42ep1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4378001:Cdc42ep1	UTSW	15	78,733,880 (GRCm39)	missense	possibly damaging	0.83
R2111:Cdc42ep1	UTSW	15	78,731,692 (GRCm39)	missense	probably damaging	1.00
R3689:Cdc42ep1	UTSW	15	78,731,629 (GRCm39)	missense	probably benign	0.03
R3690:Cdc42ep1	UTSW	15	78,731,629 (GRCm39)	missense	probably benign	0.03
R4456:Cdc42ep1	UTSW	15	78,734,091 (GRCm39)	missense	possibly damaging	0.72
R5714:Cdc42ep1	UTSW	15	78,733,977 (GRCm39)	missense	possibly damaging	0.93
R6374:Cdc42ep1	UTSW	15	78,731,649 (GRCm39)	missense	probably damaging	1.00
R7944:Cdc42ep1	UTSW	15	78,731,973 (GRCm39)	missense	possibly damaging	0.94
R7995:Cdc42ep1	UTSW	15	78,731,696 (GRCm39)	missense	probably damaging	1.00
R8010:Cdc42ep1	UTSW	15	78,731,999 (GRCm39)	missense	possibly damaging	0.62
R9293:Cdc42ep1	UTSW	15	78,734,025 (GRCm39)	missense	probably benign
R9563:Cdc42ep1	UTSW	15	78,733,782 (GRCm39)	missense	probably benign	0.02
R9565:Cdc42ep1	UTSW	15	78,733,782 (GRCm39)	missense	probably benign	0.02

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