Mutagenetix > Incidental Mutation

Incidental Mutation 'R4954:Ccin'

381466

Institutional Source

Beutler Lab

Gene Symbol

Ccin

Ensembl Gene

ENSMUSG00000070999

Gene Name

calicin

Synonyms

4933417A14Rik

MMRRC Submission

042551-MU

Accession Numbers

Essential gene?

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

Stock #

R4954 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43983483-43985423 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43985077 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 495 (I495F)

Ref Sequence

ENSEMBL: ENSMUSP00000092725 (fasta)

Gene Model

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

AlphaFold

Q8CDE2

Predicted Effect

probably benign
Transcript: ENSMUST00000095107
AA Change: I495F

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

SMART Domains

Protein: ENSMUSP00000092725
Gene: ENSMUSG00000070999
AA Change: I495F

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.7%

Validation Efficiency

100% (66/66)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	G	A	12: 118,875,169 (GRCm39)	H668Y	probably benign	Het
Alk	C	T	17: 72,209,687 (GRCm39)	W919*	probably null	Het
Aoc3	G	A	11: 101,222,925 (GRCm39)	G387D	probably damaging	Het
Arhgap26	T	A	18: 39,376,694 (GRCm39)	C441S	probably benign	Het
Arhgap28	C	A	17: 68,176,008 (GRCm39)	E100*	probably null	Het
Ate1	C	T	7: 130,110,748 (GRCm39)	G186D	probably benign	Het
Birc6	T	A	17: 74,919,026 (GRCm39)	L1948H	probably damaging	Het
Bmp2k	C	T	5: 97,234,623 (GRCm39)		probably benign	Het
Cir1	T	A	2: 73,140,848 (GRCm39)	E40D	probably benign	Het
Cyp3a57	A	T	5: 145,307,765 (GRCm39)		probably null	Het
Dennd1b	A	G	1: 138,981,124 (GRCm39)	T113A	probably damaging	Het
Dnah2	G	A	11: 69,430,322 (GRCm39)	P79S	possibly damaging	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Dync2i1	T	C	12: 116,219,645 (GRCm39)	D99G	probably damaging	Het
Enpep	A	T	3: 129,077,829 (GRCm39)	I596N	probably damaging	Het
Eps15	G	A	4: 109,227,875 (GRCm39)		probably null	Het
Ext1	T	C	15: 53,207,888 (GRCm39)	D291G	probably damaging	Het
Gm12883	T	C	4: 121,252,198 (GRCm39)		noncoding transcript	Het
Gm9921	A	G	12: 45,484,383 (GRCm39)		noncoding transcript	Het
H2-T22	C	A	17: 36,352,851 (GRCm39)	W85C	probably damaging	Het
Heatr1	G	A	13: 12,422,397 (GRCm39)		probably null	Het
Hspa4l	T	A	3: 40,739,832 (GRCm39)		probably null	Het
Kcnc3	CTT	CT	7: 44,240,720 (GRCm39)		probably null	Het
Kpna1	T	C	16: 35,853,696 (GRCm39)	V442A	probably damaging	Het
Mogat2	T	C	7: 98,887,724 (GRCm39)	T17A	possibly damaging	Het
Musk	C	T	4: 58,344,222 (GRCm39)	T285I	probably damaging	Het
Myorg	G	A	4: 41,498,241 (GRCm39)	A463V	possibly damaging	Het
Nbea	T	G	3: 55,943,379 (GRCm39)	Q632P	probably damaging	Het
Ncoa3	T	C	2: 165,907,706 (GRCm39)	V1105A	probably benign	Het
Neb	T	C	2: 52,067,530 (GRCm39)		probably null	Het
Nlrp4e	A	T	7: 23,061,318 (GRCm39)	K970*	probably null	Het
Oog2	A	T	4: 143,917,302 (GRCm39)		probably benign	Het
Or13g1	T	C	7: 85,955,809 (GRCm39)	I171V	probably benign	Het
Or2a57	A	G	6: 43,213,318 (GRCm39)	M259V	probably benign	Het
Or52a24	A	G	7: 103,381,414 (GRCm39)	I94V	probably damaging	Het
Otos	T	C	1: 92,572,167 (GRCm39)	Y53C	probably damaging	Het
Oxct2a	A	T	4: 123,216,252 (GRCm39)	C376*	probably null	Het
Pate12	A	T	9: 36,344,156 (GRCm39)	K46N	probably benign	Het
Phf14	C	A	6: 11,987,619 (GRCm39)	Q633K	probably benign	Het
Pkdrej	T	A	15: 85,700,602 (GRCm39)	N1778I	probably damaging	Het
Psmc3	C	T	2: 90,885,974 (GRCm39)		probably benign	Het
Rbm33	A	T	5: 28,544,274 (GRCm39)	I177F	probably damaging	Het
Rps6ka2	A	G	17: 7,539,003 (GRCm39)	D307G	probably benign	Het
Rps6ka2	G	A	17: 7,566,685 (GRCm39)	V648I	probably benign	Het
Scn11a	C	T	9: 119,587,725 (GRCm39)	V1340M	possibly damaging	Het
Sema7a	T	C	9: 57,863,663 (GRCm39)	W279R	probably damaging	Het
Slc2a10	A	T	2: 165,356,675 (GRCm39)	I112F	probably damaging	Het
Stk4	C	A	2: 163,993,601 (GRCm39)	S77R	possibly damaging	Het
Stk4	T	A	2: 163,993,602 (GRCm39)	W78R	probably damaging	Het
Syf2	T	A	4: 134,662,283 (GRCm39)	L99*	probably null	Het
Tas2r104	A	T	6: 131,661,968 (GRCm39)	I247K	probably damaging	Het
Usp15	G	T	10: 122,967,303 (GRCm39)	R368S	probably damaging	Het
Usp5	C	G	6: 124,799,593 (GRCm39)	K318N	possibly damaging	Het
Vmn2r2	T	A	3: 64,047,905 (GRCm39)	L20F	probably benign	Het
Zcchc4	A	T	5: 52,976,559 (GRCm39)	H451L	probably damaging	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
IGL01688:Ccin	APN	4	43,984,985 (GRCm39)	missense	possibly damaging	0.95
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
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

Predicted Primers

PCR Primer
(F):5'- TGACCGGAACCTGTACATTG -3'
(R):5'- TTGGTCCAGCAAGTAAGCATTAG -3'

Sequencing Primer
(F):5'- CGGAACCTGTACATTGTCACTGG -3'
(R):5'- TCCAGCAAGTAAGCATTAGGATTG -3'

Posted On

2016-04-27