Mutagenetix > Incidental Mutation

Incidental Mutation 'R6307:Ccdc42'

509491

Institutional Source

Beutler Lab

Gene Symbol

Ccdc42

Ensembl Gene

ENSMUSG00000045915

Gene Name

coiled-coil domain containing 42

Synonyms

A530001H01Rik

MMRRC Submission

044412-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R6307 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

68477863-68488777 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 68479106 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 98 (Q98L)

Ref Sequence

ENSEMBL: ENSMUSP00000114381 (fasta)

Gene Model

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

AlphaFold

Q5SV66

Predicted Effect

probably damaging
Transcript: ENSMUST00000063006
AA Change: Q94L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000057342
Gene: ENSMUSG00000045915
AA Change: Q94L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148019

Predicted Effect

probably damaging
Transcript: ENSMUST00000154294
AA Change: Q98L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000114381
Gene: ENSMUSG00000045915
AA Change: Q98L

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: 99.3%
20x: 97.6%

Validation Efficiency

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,843,221 (GRCm39)	L1232P	probably damaging	Het
Akap6	A	T	12: 53,188,351 (GRCm39)	I1922F	possibly damaging	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Arpc5	T	C	1: 152,647,206 (GRCm39)	V103A	possibly damaging	Het
Atp9a	C	A	2: 168,510,090 (GRCm39)	V430F	probably benign	Het
Bod1	A	G	11: 31,616,932 (GRCm39)	S110P	probably damaging	Het
Cacna1c	C	A	6: 118,590,914 (GRCm39)	V1453F	probably damaging	Het
Capn8	T	A	1: 182,435,264 (GRCm39)	M414K	probably damaging	Het
Cbl	A	T	9: 44,069,809 (GRCm39)		probably null	Het
Ccn3	T	C	15: 54,611,421 (GRCm39)		probably null	Het
Cd200	C	A	16: 45,217,545 (GRCm39)	V49L	probably benign	Het
Celsr1	A	G	15: 85,812,531 (GRCm39)	S2060P	probably benign	Het
Ces1g	A	T	8: 94,057,820 (GRCm39)	H160Q	possibly damaging	Het
Chrnb2	G	T	3: 89,668,831 (GRCm39)	H161Q	probably damaging	Het
Ctns	G	A	11: 73,082,559 (GRCm39)	T57I	probably benign	Het
Cyp3a25	A	T	5: 145,931,766 (GRCm39)	M114K	possibly damaging	Het
D630003M21Rik	A	G	2: 158,057,871 (GRCm39)	F536L	probably benign	Het
Dcc	C	T	18: 71,943,826 (GRCm39)	R275Q	probably benign	Het
Dmxl2	A	T	9: 54,289,990 (GRCm39)	H2508Q	possibly damaging	Het
Elf5	C	A	2: 103,269,757 (GRCm39)	Q113K	probably damaging	Het
Fam83a	T	G	15: 57,849,507 (GRCm39)	V17G	possibly damaging	Het
Farsa	T	C	8: 85,587,674 (GRCm39)		probably null	Het
Fat2	G	C	11: 55,172,106 (GRCm39)	T2869S	possibly damaging	Het
Fgg	A	T	3: 82,920,283 (GRCm39)	Q354L	probably damaging	Het
Folh1	T	C	7: 86,372,517 (GRCm39)	D679G	probably damaging	Het
Gbp4	T	A	5: 105,270,975 (GRCm39)	R83*	probably null	Het
Gm17482	T	A	6: 115,204,311 (GRCm39)		probably benign	Het
Hmgxb4	T	A	8: 75,749,927 (GRCm39)	V481D	possibly damaging	Het
Ifi207	A	C	1: 173,552,619 (GRCm39)	Y926D	probably damaging	Het
Ikzf5	T	A	7: 130,993,377 (GRCm39)	N264Y	probably damaging	Het
Kat6a	T	A	8: 23,430,384 (GRCm39)	M1913K	unknown	Het
Krt33b	A	T	11: 99,915,694 (GRCm39)	C351S	probably benign	Het
Lrp1	T	C	10: 127,427,944 (GRCm39)	D543G	probably damaging	Het
Lrrfip2	C	T	9: 111,053,021 (GRCm39)	R339W	probably damaging	Het
Mapk3	T	G	7: 126,363,454 (GRCm39)	M276R	probably benign	Het
Mgst1	T	C	6: 138,127,827 (GRCm39)	V137A	probably benign	Het
Muc16	T	C	9: 18,558,884 (GRCm39)	T2470A	unknown	Het
Muc4	C	T	16: 32,575,237 (GRCm39)	S1274F	possibly damaging	Het
Myo5c	A	C	9: 75,180,198 (GRCm39)	K713T	possibly damaging	Het
Myzap	T	C	9: 71,466,146 (GRCm39)	D170G	possibly damaging	Het
Naa50	T	C	16: 43,979,831 (GRCm39)	V113A	probably damaging	Het
Neu3	T	C	7: 99,462,929 (GRCm39)	T265A	probably benign	Het
Nin	T	C	12: 70,061,631 (GRCm39)	T2078A	possibly damaging	Het
Nomo1	G	A	7: 45,683,260 (GRCm39)		probably benign	Het
Nprl3	A	G	11: 32,189,828 (GRCm39)	L273P	probably damaging	Het
Oaf	T	A	9: 43,136,216 (GRCm39)	H120L	possibly damaging	Het
Or10s1	T	C	9: 39,985,824 (GRCm39)	S78P	probably damaging	Het
Or13p4	C	T	4: 118,547,145 (GRCm39)	R168H	probably benign	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Or8k21	T	C	2: 86,145,468 (GRCm39)	H54R	probably benign	Het
Pcdhga3	T	A	18: 37,809,674 (GRCm39)		probably benign	Het
Polq	G	A	16: 36,837,718 (GRCm39)		probably null	Het
Prdm8	C	T	5: 98,333,162 (GRCm39)	P243L	possibly damaging	Het
Prim2	T	C	1: 33,701,373 (GRCm39)	D138G	probably benign	Het
Prl2c5	A	G	13: 13,365,175 (GRCm39)	E107G	probably benign	Het
Prr14l	T	A	5: 32,984,869 (GRCm39)	H1542L	probably damaging	Het
Rab26	T	C	17: 24,749,072 (GRCm39)	E203G	probably damaging	Het
Rtkn2	A	T	10: 67,871,662 (GRCm39)	H350L	possibly damaging	Het
Scara3	T	C	14: 66,175,710 (GRCm39)	D19G	probably benign	Het
Scn3a	A	G	2: 65,302,685 (GRCm39)	S1254P	probably damaging	Het
Sdcbp	A	G	4: 6,385,059 (GRCm39)	M93V	probably benign	Het
Sema6a	C	A	18: 47,382,231 (GRCm39)	R772L	probably damaging	Het
Slc5a7	T	C	17: 54,584,006 (GRCm39)	K428R	probably benign	Het
Sptbn2	G	A	19: 4,774,674 (GRCm39)	G109D	probably damaging	Het
Tmppe	T	C	9: 114,233,812 (GRCm39)	L37P	probably benign	Het
Tuba1a	T	C	15: 98,849,410 (GRCm39)	T56A	probably benign	Het
Tut4	T	A	4: 108,412,817 (GRCm39)	I1506N	probably damaging	Het
Vmn2r111	A	G	17: 22,792,070 (GRCm39)	I62T	probably benign	Het
Vmn2r73	A	G	7: 85,506,828 (GRCm39)	I828T	probably damaging	Het
Vmn2r79	T	A	7: 86,686,976 (GRCm39)	W786R	probably damaging	Het
Zp1	G	A	19: 10,894,084 (GRCm39)	T405M	probably null	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
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
R8246:Ccdc42	UTSW	11	68,478,122 (GRCm39)	missense	probably benign	0.00
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'- TCATCAGCGTTCCAAGAGCC -3'
(R):5'- CAGGTAAACGGGACATCTCAGATAG -3'

Sequencing Primer
(F):5'- CACTTTGGGCAAATGATGTTAGACTC -3'
(R):5'- AGACACCTTTAATCCCGG -3'

Posted On

2018-04-02