Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01688:Ccin'

104009

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccin

Ensembl Gene

ENSMUSG00000070999

Gene Name

calicin

Synonyms

4933417A14Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.211) question?

Stock #

IGL01688

Quality Score

Status

Chromosome

Chromosomal Location

43983483-43985423 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43984985 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 464 (E464V)

Ref Sequence

ENSEMBL: ENSMUSP00000092725 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095107]

AlphaFold

Q8CDE2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095107
AA Change: E464V

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000092725
Gene: ENSMUSG00000070999
AA Change: E464V

Domain	Start	End	E-Value	Type
BTB	28	128	1.55e-21	SMART
BACK	133	237	4.4e-7	SMART
Kelch	280	327	2.3e0	SMART
Kelch	328	375	2.39e-6	SMART
Kelch	376	423	2.56e0	SMART
Blast:Kelch	526	580	7e-22	BLAST

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a basic protein of the sperm head cytoskeleton. This protein contains kelch repeats and a BTB/POZ domain and is necessary for normal morphology during sperm differentiation. This gene is intronless. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,000,985 (GRCm39)	L59P	probably damaging	Het
Cfap58	A	G	19: 47,963,006 (GRCm39)	D472G	probably benign	Het
Col28a1	C	T	6: 7,998,517 (GRCm39)	E1131K	probably damaging	Het
Cpne2	A	G	8: 95,281,381 (GRCm39)	T196A	possibly damaging	Het
Cul4a	A	T	8: 13,196,571 (GRCm39)	R742*	probably null	Het
Cyp21a1	T	A	17: 35,021,194 (GRCm39)	I370F	probably damaging	Het
Ddx51	T	C	5: 110,803,513 (GRCm39)	F332L	probably benign	Het
Gm8232	A	G	14: 44,671,179 (GRCm39)	D29G	unknown	Het
Got1	A	G	19: 43,512,775 (GRCm39)		probably null	Het
Gpat4	A	G	8: 23,671,861 (GRCm39)	I58T	probably benign	Het
Hdac3	T	A	18: 38,087,932 (GRCm39)	D12V	possibly damaging	Het
Helb	T	C	10: 119,944,885 (GRCm39)	H217R	probably damaging	Het
Hpf1	A	T	8: 61,349,830 (GRCm39)	I153L	probably benign	Het
Lgsn	G	A	1: 31,243,486 (GRCm39)	D523N	probably damaging	Het
Lrrc63	A	G	14: 75,322,422 (GRCm39)	S561P	possibly damaging	Het
Myh6	G	A	14: 55,201,417 (GRCm39)	T94I	possibly damaging	Het
Mzt2	T	C	16: 15,680,793 (GRCm39)		probably benign	Het
Ndufb5	T	A	3: 32,800,613 (GRCm39)	L62*	probably null	Het
Nek1	A	T	8: 61,558,631 (GRCm39)	R970*	probably null	Het
Nepro	T	C	16: 44,556,369 (GRCm39)	L509P	probably damaging	Het
Pank1	T	A	19: 34,818,252 (GRCm39)	I96F	probably damaging	Het
Parp11	C	A	6: 127,448,569 (GRCm39)	T62K	probably benign	Het
Pla2g2e	T	A	4: 138,606,781 (GRCm39)		probably benign	Het
Plekha5	T	A	6: 140,515,115 (GRCm39)	Y207N	probably damaging	Het
Pomt2	T	A	12: 87,194,294 (GRCm39)	I37F	probably benign	Het
Prl6a1	T	A	13: 27,501,969 (GRCm39)	V117E	probably damaging	Het
Prmt3	T	A	7: 49,498,480 (GRCm39)		probably null	Het
Rcor3	T	A	1: 191,807,900 (GRCm39)	E20V	probably damaging	Het
Rere	A	G	4: 150,702,893 (GRCm39)	D1449G	probably damaging	Het
Ric1	T	C	19: 29,555,014 (GRCm39)	V376A	probably benign	Het
Rims1	G	A	1: 22,467,764 (GRCm39)	T873I	probably benign	Het
Rras2	T	C	7: 113,659,632 (GRCm39)	D44G	probably damaging	Het
Sbk2	C	T	7: 4,960,716 (GRCm39)		probably benign	Het
Slit1	A	G	19: 41,717,545 (GRCm39)	I73T	probably damaging	Het
Spice1	T	A	16: 44,205,073 (GRCm39)	M793K	probably benign	Het
Suco	T	C	1: 161,691,480 (GRCm39)		probably null	Het
Tarbp1	A	T	8: 127,174,290 (GRCm39)	W839R	probably damaging	Het
Trpc4	T	A	3: 54,173,495 (GRCm39)		probably benign	Het
Tubgcp5	T	C	7: 55,464,766 (GRCm39)	V549A	possibly damaging	Het
Ubap2	T	A	4: 41,226,308 (GRCm39)	T182S	probably benign	Het
Wrn	A	C	8: 33,800,730 (GRCm39)		probably benign	Het
Zc3h15	A	G	2: 83,492,536 (GRCm39)	Y337C	probably damaging	Het
Zfp292	T	A	4: 34,807,855 (GRCm39)	I1730F	possibly damaging	Het
Zfp609	A	G	9: 65,611,307 (GRCm39)	V552A	probably benign	Het

Other mutations in Ccin

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01344:Ccin	APN	4	43,984,069 (GRCm39)	missense	probably damaging	1.00
R1017:Ccin	UTSW	4	43,985,222 (GRCm39)	missense	probably benign	0.05
R1707:Ccin	UTSW	4	43,983,947 (GRCm39)	missense	probably benign
R1709:Ccin	UTSW	4	43,984,133 (GRCm39)	missense	probably damaging	1.00
R4657:Ccin	UTSW	4	43,984,981 (GRCm39)	missense	probably damaging	1.00
R4954:Ccin	UTSW	4	43,985,077 (GRCm39)	missense	probably benign
R5958:Ccin	UTSW	4	43,983,854 (GRCm39)	missense	probably damaging	0.98
R6034:Ccin	UTSW	4	43,985,354 (GRCm39)	missense	probably benign	0.00
R6034:Ccin	UTSW	4	43,985,354 (GRCm39)	missense	probably benign	0.00
R6768:Ccin	UTSW	4	43,984,574 (GRCm39)	missense	probably benign
R8272:Ccin	UTSW	4	43,984,064 (GRCm39)	missense	probably damaging	1.00
R8948:Ccin	UTSW	4	43,984,064 (GRCm39)	missense	probably damaging	1.00
R9024:Ccin	UTSW	4	43,983,562 (GRCm39)	unclassified	probably benign
Z1176:Ccin	UTSW	4	43,985,018 (GRCm39)	missense	probably damaging	0.97
Z1177:Ccin	UTSW	4	43,984,902 (GRCm39)	missense	probably benign	0.01

Posted On

2014-01-21