Mutagenetix > Incidental Mutation

Incidental Mutation 'R8010:Cdc42ep1'

616874

Institutional Source

Beutler Lab

Gene Symbol

Cdc42ep1

Ensembl Gene

ENSMUSG00000049521

Gene Name

CDC42 effector protein 1

Synonyms

MSE55, 1810058K22Rik, Borg5, CEP1

MMRRC Submission

046050-MU

Accession Numbers

Essential gene?

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

Stock #

R8010 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78726847-78735102 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 78731999 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 148 (T148I)

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: T148I

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000060930
Gene: ENSMUSG00000049521
AA Change: T148I

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: 99.8%
20x: 99.4%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,557,303 (GRCm39)	H130L	probably benign	Het
Abca1	A	G	4: 53,127,600 (GRCm39)	S140P	probably benign	Het
Aoc1	T	C	6: 48,882,582 (GRCm39)	Y153H	probably benign	Het
Arhgdib	A	G	6: 136,903,720 (GRCm39)	I118T	probably damaging	Het
Atp1a3	T	A	7: 24,680,070 (GRCm39)	E865V	possibly damaging	Het
Atrnl1	T	C	19: 57,670,878 (GRCm39)	V587A	probably benign	Het
Ccdc107	G	T	4: 43,495,768 (GRCm39)	E199*	probably null	Het
Cd55	A	T	1: 130,387,353 (GRCm39)	D148E	probably benign	Het
Cep164	A	T	9: 45,734,969 (GRCm39)	D19E	unknown	Het
Chsy3	A	G	18: 59,543,226 (GRCm39)	Y788C	probably damaging	Het
Cttnbp2	G	C	6: 18,426,092 (GRCm39)	A762G	possibly damaging	Het
Cubn	A	G	2: 13,340,897 (GRCm39)		probably null	Het
Ddr1	T	A	17: 36,002,384 (GRCm39)	M175L	possibly damaging	Het
Dicer1	C	A	12: 104,658,391 (GRCm39)	K1850N	probably damaging	Het
Dnajc6	C	T	4: 101,475,611 (GRCm39)	R495C	probably benign	Het
Ecpas	T	A	4: 58,832,681 (GRCm39)	Q893L	unknown	Het
Fbh1	A	T	2: 11,772,443 (GRCm39)	N79K	probably benign	Het
Frmpd1	T	A	4: 45,284,272 (GRCm39)	V1031D	possibly damaging	Het
Gm7298	A	G	6: 121,712,542 (GRCm39)	E118G	probably benign	Het
Hnrnpll	T	C	17: 80,369,385 (GRCm39)	T13A	unknown	Het
Jcad	A	G	18: 4,674,581 (GRCm39)	D781G	probably benign	Het
Kitl	A	T	10: 99,887,765 (GRCm39)	T25S	probably benign	Het
Krt5	T	C	15: 101,620,791 (GRCm39)	D152G	probably damaging	Het
Krtap5-5	T	C	7: 141,783,648 (GRCm39)	M1V	probably null	Het
Ktn1	C	T	14: 47,943,230 (GRCm39)	T862I	possibly damaging	Het
Mapk4	A	T	18: 74,063,647 (GRCm39)	I525N	probably benign	Het
Megf6	T	C	4: 154,354,964 (GRCm39)	F1457S	probably benign	Het
Mrm3	A	T	11: 76,141,173 (GRCm39)	S394C	probably damaging	Het
Mtmr4	T	G	11: 87,489,690 (GRCm39)	V71G	probably damaging	Het
Nek8	T	C	11: 78,067,422 (GRCm39)	Y4C	probably damaging	Het
Or13g1	T	A	7: 85,956,260 (GRCm39)	E20D	probably benign	Het
Or5ac21	T	C	16: 59,123,867 (GRCm39)	M117T	probably damaging	Het
Or7g30	A	T	9: 19,352,988 (GRCm39)	I260L	probably benign	Het
Pla2r1	T	C	2: 60,345,304 (GRCm39)	T351A	probably benign	Het
Plcb4	C	T	2: 135,749,480 (GRCm39)	T49M	probably benign	Het
Psg20	T	C	7: 18,414,992 (GRCm39)	D301G	probably benign	Het
Ptpn13	C	T	5: 103,707,803 (GRCm39)	Q1455*	probably null	Het
Rbbp8	A	T	18: 11,855,290 (GRCm39)	N505I	possibly damaging	Het
Rgs18	A	G	1: 144,631,738 (GRCm39)	C125R	probably benign	Het
Rpap2	G	A	5: 107,751,471 (GRCm39)	C105Y	probably damaging	Het
Scn10a	C	T	9: 119,490,233 (GRCm39)	G570R	possibly damaging	Het
Sell	C	T	1: 163,893,081 (GRCm39)	T99I	possibly damaging	Het
Slc14a1	A	T	18: 78,159,704 (GRCm39)	M63K	probably benign	Het
Sp140l2	G	A	1: 85,224,671 (GRCm39)	S288L	possibly damaging	Het
Syne2	A	T	12: 75,977,512 (GRCm39)	D1319V	probably benign	Het
Tdp2	C	T	13: 25,020,010 (GRCm39)	T99I	probably damaging	Het
Tet3	A	T	6: 83,380,228 (GRCm39)	S647T	unknown	Het
Tpd52l1	T	G	10: 31,234,009 (GRCm39)	D48A	possibly damaging	Het
Ttll10	T	C	4: 156,131,618 (GRCm39)	D169G	probably damaging	Het
Wars2	C	A	3: 99,124,146 (GRCm39)	L336I	probably benign	Het
Wdfy4	C	A	14: 32,693,584 (GRCm39)	W2906L		Het
Xdh	A	T	17: 74,216,312 (GRCm39)	Y711*	probably null	Het
Xirp1	T	A	9: 119,846,890 (GRCm39)	R664S	probably benign	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
R7945: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
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'- TCCAACAGGTTCGCAGAGTC -3'
(R):5'- TGTAAGCTGCAAACATCACTTCTAC -3'

Sequencing Primer
(F):5'- TTCGCAGAGTCGGGGTGC -3'
(R):5'- CAGCCTCTGTGTTATAAGGCCTAAG -3'

Posted On

2020-01-23