Mutagenetix > Incidental Mutation

Incidental Mutation 'R8246:Ccdc42'

640769

Institutional Source

Beutler Lab

Gene Symbol

Ccdc42

Ensembl Gene

ENSMUSG00000045915

Gene Name

coiled-coil domain containing 42

Synonyms

A530001H01Rik

MMRRC Submission

067852-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R8246 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68477863-68488777 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 68478122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 28 (Q28K)

Ref Sequence

ENSEMBL: ENSMUSP00000114381 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063006] [ENSMUST00000154294]

AlphaFold

Q5SV66

Predicted Effect

probably benign
Transcript: ENSMUST00000063006
AA Change: Q24K

PolyPhen 2 Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000057342
Gene: ENSMUSG00000045915
AA Change: Q24K

Domain	Start	End	E-Value	Type
Pfam:DUF4200	39	169	6e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154294
AA Change: Q28K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000114381
Gene: ENSMUSG00000045915
AA Change: Q28K

Domain	Start	End	E-Value	Type
Pfam:DUF4200	44	162	5.6e-30	PFAM
coiled coil region	182	239	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (43/43)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are viable and developmentally normal with no overt behavioral deficits. Males exhibit defects in the number and location of the sperm head-tail coupling apparatus, lack flagellated sperm, and are sterile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk3	C	A	7: 80,742,524 (GRCm39)	D780E	probably benign	Het
Anln	A	C	9: 22,262,251 (GRCm39)	S947A	probably benign	Het
Borcs6	C	T	11: 68,951,377 (GRCm39)	P252S	probably benign	Het
Cp	A	G	3: 20,029,186 (GRCm39)	I554M	probably damaging	Het
Dnm3	T	G	1: 162,135,486 (GRCm39)	D429A	probably damaging	Het
Dok5	A	G	2: 170,642,813 (GRCm39)	K37R	probably benign	Het
Dtwd2	A	T	18: 49,831,492 (GRCm39)	Y268N	probably benign	Het
Eif3a	T	C	19: 60,767,806 (GRCm39)	E244G	probably damaging	Het
Elapor2	T	C	5: 9,496,966 (GRCm39)	V810A	probably benign	Het
Fam149a	T	C	8: 45,834,655 (GRCm39)	E48G	probably benign	Het
Fam186a	T	A	15: 99,838,428 (GRCm39)	E2605D	unknown	Het
Fhip1b	T	C	7: 105,038,867 (GRCm39)	E124G	probably damaging	Het
Fyn	T	A	10: 39,405,525 (GRCm39)	W264R	probably damaging	Het
Gm10024	T	A	10: 77,547,369 (GRCm39)	S27T	unknown	Het
Gpr157	C	T	4: 150,186,753 (GRCm39)	L294F	possibly damaging	Het
Kif6	C	T	17: 50,065,542 (GRCm39)	Q506*	probably null	Het
Klrh1	A	G	6: 129,752,339 (GRCm39)		probably benign	Het
Loxhd1	A	G	18: 77,451,242 (GRCm39)	K707R	possibly damaging	Het
Mcub	C	A	3: 129,708,814 (GRCm39)	V328L	probably benign	Het
Mdn1	C	T	4: 32,657,284 (GRCm39)	P12S	probably benign	Het
Mrgprb3	T	G	7: 48,293,268 (GRCm39)	L94F	probably benign	Het
Mycbp2	G	T	14: 103,392,640 (GRCm39)	P3307Q	probably damaging	Het
Nol8	T	G	13: 49,808,724 (GRCm39)		probably benign	Het
Or11g2	A	G	14: 50,855,841 (GRCm39)	Y54C	probably benign	Het
Or4f57	T	C	2: 111,790,483 (GRCm39)	I312V	probably benign	Het
Pax5	T	C	4: 44,570,027 (GRCm39)	H286R	probably benign	Het
Rmdn2	T	A	17: 79,979,966 (GRCm39)	C381*	probably null	Het
Rpusd4	A	G	9: 35,183,876 (GRCm39)	I202V	probably benign	Het
Shank3	A	T	15: 89,417,549 (GRCm39)	R49W	possibly damaging	Het
Smurf2	T	C	11: 106,721,870 (GRCm39)	T542A	probably benign	Het
Sorcs2	G	A	5: 36,219,932 (GRCm39)	R371C	probably damaging	Het
Sqstm1	T	C	11: 50,101,388 (GRCm39)	H66R	probably damaging	Het
Stard8	C	T	X: 98,109,570 (GRCm39)	S155L	probably benign	Het
Svep1	A	T	4: 58,091,889 (GRCm39)	V1582D	probably damaging	Het
Tecrl	T	C	5: 83,427,156 (GRCm39)	M331V	probably damaging	Het
Tinf2	T	C	14: 55,917,042 (GRCm39)	S368G	probably damaging	Het
Tmem184c	A	T	8: 78,336,814 (GRCm39)	I14N	probably damaging	Het
Ttc28	G	A	5: 111,381,207 (GRCm39)	D1240N	probably benign	Het
Ulk4	T	C	9: 120,985,941 (GRCm39)	*911W	probably null	Het
Unc13b	T	C	4: 43,175,954 (GRCm39)	F2261L	unknown	Het
Vps16	G	C	2: 130,280,793 (GRCm39)	G241R	probably damaging	Het
Ythdc1	C	T	5: 86,965,181 (GRCm39)	T292I	possibly damaging	Het

Other mutations in Ccdc42

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00924:Ccdc42	APN	11	68,485,447 (GRCm39)	missense	probably benign	0.09
IGL01897:Ccdc42	APN	11	68,485,101 (GRCm39)	missense	probably benign	0.00
R0153:Ccdc42	UTSW	11	68,478,476 (GRCm39)	missense	possibly damaging	0.56
R0540:Ccdc42	UTSW	11	68,488,536 (GRCm39)	nonsense	probably null
R0607:Ccdc42	UTSW	11	68,488,536 (GRCm39)	nonsense	probably null
R1619:Ccdc42	UTSW	11	68,485,115 (GRCm39)	missense	probably damaging	0.97
R1831:Ccdc42	UTSW	11	68,481,805 (GRCm39)	missense	probably benign	0.00
R2264:Ccdc42	UTSW	11	68,478,477 (GRCm39)	missense	probably benign	0.03
R6307:Ccdc42	UTSW	11	68,479,106 (GRCm39)	missense	probably damaging	1.00
R6352:Ccdc42	UTSW	11	68,485,191 (GRCm39)	missense	probably damaging	1.00
R6522:Ccdc42	UTSW	11	68,479,046 (GRCm39)	missense	probably damaging	1.00
R7009:Ccdc42	UTSW	11	68,485,442 (GRCm39)	missense	probably damaging	0.99
R7262:Ccdc42	UTSW	11	68,485,399 (GRCm39)	missense	probably damaging	1.00
R7813:Ccdc42	UTSW	11	68,488,534 (GRCm39)	missense	probably benign	0.00
R7827:Ccdc42	UTSW	11	68,485,022 (GRCm39)	missense	probably benign	0.23
R8874:Ccdc42	UTSW	11	68,485,396 (GRCm39)	missense	probably damaging	0.98
R9225:Ccdc42	UTSW	11	68,479,061 (GRCm39)	missense	probably damaging	1.00
Z1186:Ccdc42	UTSW	11	68,478,017 (GRCm39)	start gained	probably benign
Z1187:Ccdc42	UTSW	11	68,478,017 (GRCm39)	start gained	probably benign
Z1188:Ccdc42	UTSW	11	68,478,017 (GRCm39)	start gained	probably benign
Z1189:Ccdc42	UTSW	11	68,478,017 (GRCm39)	start gained	probably benign
Z1190:Ccdc42	UTSW	11	68,478,017 (GRCm39)	start gained	probably benign
Z1191:Ccdc42	UTSW	11	68,478,017 (GRCm39)	start gained	probably benign
Z1192:Ccdc42	UTSW	11	68,478,017 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- TGTGGGACTTTGAAAGCAGC -3'
(R):5'- AAGAGGTCTCCACTCTCACC -3'

Sequencing Primer
(F):5'- GGAGACCGAGAATCCAGCC -3'
(R):5'- GGTCTCCACTCTCACCTTAATGAAAG -3'

Posted On

2020-07-28