Mutagenetix > Incidental Mutation

Incidental Mutation 'R1831:Ccdc42'

207347

Institutional Source

Beutler Lab

Gene Symbol

Ccdc42

Ensembl Gene

ENSMUSG00000045915

Gene Name

coiled-coil domain containing 42

Synonyms

A530001H01Rik

MMRRC Submission

039858-MU

Accession Numbers

Essential gene?

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

Stock #

R1831 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68477863-68488777 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 68481805 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 133 (M133K)

Ref Sequence

ENSEMBL: ENSMUSP00000114381 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063006] [ENSMUST00000102612] [ENSMUST00000154294]

AlphaFold

Q5SV66

Predicted Effect

probably benign
Transcript: ENSMUST00000063006
AA Change: M129K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000057342
Gene: ENSMUSG00000045915
AA Change: M129K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000102612

SMART Domains

Protein: ENSMUSP00000099672
Gene: ENSMUSG00000045915

Domain	Start	End	E-Value	Type
coiled coil region	35	92	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148019

Predicted Effect

probably benign
Transcript: ENSMUST00000154294
AA Change: M133K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000114381
Gene: ENSMUSG00000045915
AA Change: M133K

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: 97.5%
3x: 96.9%
10x: 95.2%
20x: 92.2%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,627,255 (GRCm39)	D77G	probably damaging	Het
Adam1b	A	G	5: 121,641,000 (GRCm39)	I15T	possibly damaging	Het
Arfgef1	G	C	1: 10,275,115 (GRCm39)	I312M	probably benign	Het
Capn8	G	A	1: 182,438,666 (GRCm39)		probably null	Het
Carmil1	A	T	13: 24,348,862 (GRCm39)	V15E	probably benign	Het
Cd5	T	C	19: 10,696,933 (GRCm39)	D485G	probably damaging	Het
Cdhr18	A	G	14: 13,899,619 (GRCm38)	I101T	probably damaging	Het
Cep104	T	A	4: 154,087,003 (GRCm39)	V842E	probably benign	Het
Cep162	T	A	9: 87,088,985 (GRCm39)	I966L	probably damaging	Het
Cklf	T	C	8: 104,977,687 (GRCm39)	F13S	probably damaging	Het
Csf2rb	C	T	15: 78,232,453 (GRCm39)	P587S	probably benign	Het
Cyp21a1	A	T	17: 35,023,009 (GRCm39)		probably benign	Het
Cyp26a1	A	T	19: 37,689,071 (GRCm39)	L335F	probably damaging	Het
Dcst1	A	G	3: 89,260,057 (GRCm39)	F596L	probably damaging	Het
Dennd6a	T	A	14: 26,328,109 (GRCm39)	L44H	probably damaging	Het
Dnah6	G	A	6: 73,158,780 (GRCm39)	R608C	possibly damaging	Het
Dnajb5	A	T	4: 42,957,333 (GRCm39)	T311S	probably benign	Het
Dthd1	A	G	5: 62,984,572 (GRCm39)	T426A	probably benign	Het
Dync1h1	A	G	12: 110,580,493 (GRCm39)	K118R	probably damaging	Het
Efemp1	A	T	11: 28,871,442 (GRCm39)	D347V	possibly damaging	Het
Ephb4	T	A	5: 137,352,677 (GRCm39)	Y87N	probably damaging	Het
Ern1	A	T	11: 106,290,668 (GRCm39)		probably null	Het
Fam184a	A	T	10: 53,523,180 (GRCm39)	D164E	probably damaging	Het
Fkbp10	A	G	11: 100,314,045 (GRCm39)	E351G	probably damaging	Het
Fmn2	A	G	1: 174,437,511 (GRCm39)	S1161G	probably benign	Het
Frem1	A	G	4: 82,939,074 (GRCm39)	S3P	possibly damaging	Het
Gpr3	C	T	4: 132,938,454 (GRCm39)	A73T	possibly damaging	Het
Gprc6a	T	C	10: 51,491,902 (GRCm39)	T616A	probably benign	Het
Gtf3c2	G	T	5: 31,325,713 (GRCm39)	Q452K	probably damaging	Het
H2-Q7	C	A	17: 35,658,675 (GRCm39)	S104R	probably benign	Het
Hacd2	T	C	16: 34,922,434 (GRCm39)	Y208H	probably damaging	Het
Hid1	C	T	11: 115,239,729 (GRCm39)	G734R	probably damaging	Het
Ifi207	A	G	1: 173,559,992 (GRCm39)	I160T	unknown	Het
Itga11	T	A	9: 62,689,300 (GRCm39)	L1155Q	probably damaging	Het
Kmt2d	A	G	15: 98,753,224 (GRCm39)	S157P	probably damaging	Het
Lamb3	A	G	1: 193,017,187 (GRCm39)	T793A	probably damaging	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Lrrc66	G	A	5: 73,764,769 (GRCm39)	S758L	possibly damaging	Het
Ltn1	C	T	16: 87,197,034 (GRCm39)	S1213N	possibly damaging	Het
Meak7	T	C	8: 120,497,992 (GRCm39)	M171V	probably null	Het
Med1	T	C	11: 98,047,437 (GRCm39)		probably benign	Het
Megf6	C	T	4: 154,355,134 (GRCm39)	T1483M	probably benign	Het
Micall2	A	G	5: 139,702,508 (GRCm39)	V245A	probably benign	Het
Mipep	T	G	14: 61,109,512 (GRCm39)	Y630D	probably damaging	Het
Ndst3	T	A	3: 123,395,127 (GRCm39)	H501L	probably benign	Het
Nek10	A	T	14: 14,842,789 (GRCm38)	M165L	probably benign	Het
Nmbr	C	A	10: 14,642,609 (GRCm39)	T56K	probably benign	Het
Nxpe2	T	A	9: 48,237,452 (GRCm39)	M268L	probably benign	Het
Oasl2	A	G	5: 115,039,367 (GRCm39)	Y185C	probably benign	Het
Ogdhl	T	A	14: 32,059,484 (GRCm39)	V377E	probably damaging	Het
Or11g1	T	A	14: 50,651,658 (GRCm39)		probably null	Het
Or14j4	G	A	17: 37,920,730 (GRCm39)	S304L	possibly damaging	Het
Ovgp1	A	G	3: 105,892,384 (GRCm39)	R346G	probably benign	Het
Parp14	T	A	16: 35,678,958 (GRCm39)	N337Y	possibly damaging	Het
Pask	A	C	1: 93,248,491 (GRCm39)		probably null	Het
Pax3	G	T	1: 78,108,977 (GRCm39)	T227K	probably damaging	Het
Pik3r6	T	A	11: 68,434,860 (GRCm39)	M594K	probably benign	Het
Pms1	A	G	1: 53,246,370 (GRCm39)	F390L	probably benign	Het
Polg	G	A	7: 79,109,518 (GRCm39)	T433I	probably benign	Het
Prex1	T	C	2: 166,427,021 (GRCm39)	Y898C	probably damaging	Het
Ranbp2	T	A	10: 58,315,044 (GRCm39)	C1921*	probably null	Het
Rif1	T	A	2: 51,968,507 (GRCm39)	L230*	probably null	Het
Rnf148	A	G	6: 23,654,772 (GRCm39)	F75L	probably damaging	Het
Rps18-ps6	A	G	13: 97,897,053 (GRCm39)	V15A	probably benign	Het
Sclt1	A	G	3: 41,681,546 (GRCm39)	V91A	probably damaging	Het
Sirt1	T	C	10: 63,156,425 (GRCm39)	D735G	probably benign	Het
Spag5	T	A	11: 78,205,082 (GRCm39)	N622K	probably benign	Het
Sspo	T	G	6: 48,466,720 (GRCm39)	C3935W	probably damaging	Het
Strbp	A	G	2: 37,515,277 (GRCm39)	S250P	possibly damaging	Het
Tgfbr2	T	C	9: 115,919,604 (GRCm39)	T541A	possibly damaging	Het
Thada	A	C	17: 84,538,542 (GRCm39)	S1489A	probably damaging	Het
Tiam1	A	T	16: 89,657,182 (GRCm39)	S685T	probably benign	Het
Tpsb2	T	A	17: 25,585,494 (GRCm39)		probably null	Het
Trip4	C	A	9: 65,765,622 (GRCm39)	G359V	probably damaging	Het
Tsr1	T	C	11: 74,791,182 (GRCm39)	F254L	probably benign	Het
Vmn1r120	T	C	7: 20,787,556 (GRCm39)	K52E	probably benign	Het
Vmn1r29	C	A	6: 58,284,692 (GRCm39)	Y137*	probably null	Het
Vmn2r52	T	C	7: 9,893,415 (GRCm39)	K575E	probably damaging	Het
Wdr95	A	G	5: 149,475,891 (GRCm39)	Y63C	probably 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
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
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'- ATCTATCACCAGCCCCAGGTAG -3'
(R):5'- GGATAACTATTCCAAGGGCCC -3'

Sequencing Primer
(F):5'- AGGTAGGCCAGGGTCTCG -3'
(R):5'- TAAACCCTAGCCAGCTGGAG -3'

Posted On

2014-06-23