Mutagenetix > Incidental Mutation

Incidental Mutation 'R7813:Ccdc42'

601307

Institutional Source

Beutler Lab

Gene Symbol

Ccdc42

Ensembl Gene

ENSMUSG00000045915

Gene Name

coiled-coil domain containing 42

Synonyms

A530001H01Rik

MMRRC Submission

045868-MU

Accession Numbers

Essential gene?

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

Stock #

R7813 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68477863-68488777 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 68488534 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 164 (Q164L)

Ref Sequence

ENSEMBL: ENSMUSP00000099672 (fasta)

Gene Model

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

AlphaFold

Q5SV66

Predicted Effect

probably benign
Transcript: ENSMUST00000063006
AA Change: Q233L

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

SMART Domains

Protein: ENSMUSP00000057342
Gene: ENSMUSG00000045915
AA Change: Q233L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000102612
AA Change: Q164L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000099672
Gene: ENSMUSG00000045915
AA Change: Q164L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000154294
AA Change: Q311L

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

SMART Domains

Protein: ENSMUSP00000114381
Gene: ENSMUSG00000045915
AA Change: Q311L

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: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (60/60)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	G	A	10: 29,100,896 (GRCm39)	R423K	probably benign	Het
Acot7	T	C	4: 152,307,575 (GRCm39)	S170P	probably damaging	Het
Arhgap40	A	G	2: 158,380,620 (GRCm39)	Q341R	probably benign	Het
Arhgef28	T	C	13: 98,082,189 (GRCm39)	E1206G	possibly damaging	Het
Arpp21	T	A	9: 112,008,133 (GRCm39)	K122N	probably damaging	Het
Arsi	T	C	18: 61,049,726 (GRCm39)	L203P	possibly damaging	Het
C1rb	A	T	6: 124,557,488 (GRCm39)	I542F	probably benign	Het
Cadm3	C	A	1: 173,171,956 (GRCm39)	V206L	probably benign	Het
Card11	T	C	5: 140,885,419 (GRCm39)	D380G	probably damaging	Het
Ccnd1	A	G	7: 144,491,622 (GRCm39)		probably null	Het
Cep120	T	C	18: 53,871,578 (GRCm39)	D98G	probably damaging	Het
Chrd	A	G	16: 20,554,155 (GRCm39)	T336A	probably benign	Het
Clca3a2	C	A	3: 144,790,726 (GRCm39)	A449S	probably benign	Het
Dnah7a	A	G	1: 53,657,245 (GRCm39)	F844L	probably benign	Het
Fbxo11	T	A	17: 88,308,245 (GRCm39)	I480F		Het
Fcrl5	A	G	3: 87,350,930 (GRCm39)	T147A	probably benign	Het
Gm15130	T	A	2: 110,969,320 (GRCm39)	I133F		Het
Gpr155	C	T	2: 73,212,329 (GRCm39)	W98*	probably null	Het
Hspa4	A	G	11: 53,162,863 (GRCm39)	S408P	probably damaging	Het
Il12rb2	G	A	6: 67,333,635 (GRCm39)	R215C	possibly damaging	Het
Itga5	T	A	15: 103,265,741 (GRCm39)		probably null	Het
Kcnip3	T	A	2: 127,323,703 (GRCm39)		probably null	Het
Krt12	A	G	11: 99,309,309 (GRCm39)		probably null	Het
Marchf3	A	T	18: 56,916,163 (GRCm39)	S177R	probably benign	Het
Minpp1	T	G	19: 32,468,803 (GRCm39)	F229V	probably damaging	Het
Muc2	G	A	7: 141,282,543 (GRCm39)		probably null	Het
Myh10	A	G	11: 68,676,735 (GRCm39)	T906A	probably benign	Het
Myh13	A	G	11: 67,218,056 (GRCm39)	D43G	probably benign	Het
Nacad	C	T	11: 6,549,071 (GRCm39)	D1327N	probably benign	Het
Nbeal1	A	T	1: 60,331,048 (GRCm39)	Y2219F	probably damaging	Het
Nckap5	A	G	1: 125,953,163 (GRCm39)	S1130P	probably benign	Het
Pfkfb3	T	C	2: 11,486,719 (GRCm39)	N415S	probably benign	Het
Plxdc2	A	G	2: 16,665,678 (GRCm39)	I293V	possibly damaging	Het
Prpf38a	A	T	4: 108,436,277 (GRCm39)	I12N	probably damaging	Het
Ptprt	C	T	2: 161,372,413 (GRCm39)	V1420M	probably damaging	Het
Qars1	A	G	9: 108,386,670 (GRCm39)	D161G	probably damaging	Het
Scaf8	T	A	17: 3,247,549 (GRCm39)	D957E	probably damaging	Het
Scn7a	T	C	2: 66,506,689 (GRCm39)	Y1400C	probably damaging	Het
Sis	T	C	3: 72,832,801 (GRCm39)	I999V	probably benign	Het
Sorcs2	A	T	5: 36,181,958 (GRCm39)	L1054H	probably damaging	Het
Sptbn1	C	T	11: 30,088,455 (GRCm39)	A906T	probably damaging	Het
Srd5a2	A	G	17: 74,331,541 (GRCm39)	F152S	probably benign	Het
Stkld1	T	A	2: 26,835,888 (GRCm39)	L241*	probably null	Het
Strip2	A	T	6: 29,923,912 (GRCm39)		probably null	Het
Tcaf1	A	C	6: 42,650,363 (GRCm39)	Y905*	probably null	Het
Tet2	T	C	3: 133,179,404 (GRCm39)	I1254V	probably benign	Het
Tiam2	A	T	17: 3,487,522 (GRCm39)	N681I	probably damaging	Het
Trappc6a	A	G	7: 19,248,124 (GRCm39)		probably null	Het
Trav12-2	A	T	14: 53,854,223 (GRCm39)	K66*	probably null	Het
Ttn	T	A	2: 76,597,841 (GRCm39)	I19691F	probably damaging	Het
Tubgcp5	A	T	7: 55,450,444 (GRCm39)	Q185L	possibly damaging	Het
Vmn1r44	A	T	6: 89,869,192 (GRCm39)		probably benign	Het
Vps13a	T	C	19: 16,628,820 (GRCm39)	D2717G	possibly damaging	Het
Vps13d	A	T	4: 144,904,633 (GRCm39)	Y133*	probably null	Het
Zer1	T	C	2: 30,000,385 (GRCm39)	D265G	probably damaging	Het
Zfp710	A	G	7: 79,730,859 (GRCm39)	D12G	possibly damaging	Het
Zfp819	T	C	7: 43,266,191 (GRCm39)	S225P	probably benign	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
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'- AGCAGCCTCTGGAAGTCAAG -3'
(R):5'- GGAGAAGTAATTTCAGAGCCAACTTC -3'

Sequencing Primer
(F):5'- GGATGAGGGCAATGAGGTCCTTC -3'
(R):5'- GGAACCTTCTCTTTCCTAGG -3'

Posted On

2019-11-26