Mutagenetix > Incidental Mutation

Incidental Mutation 'R2829:Cylc2'

254219

Institutional Source

Beutler Lab

Gene Symbol

Cylc2

Ensembl Gene

ENSMUSG00000039555

Gene Name

cylicin, basic protein of sperm head cytoskeleton 2

Synonyms

4930488P18Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R2829 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51216678-51250622 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51229798 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 380 (D380G)

Ref Sequence

ENSEMBL: ENSMUSP00000125758 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041392] [ENSMUST00000166749]

AlphaFold

A0A571BEE2

Predicted Effect

unknown
Transcript: ENSMUST00000041392
AA Change: D380G

SMART Domains

Protein: ENSMUSP00000039750
Gene: ENSMUSG00000039555
AA Change: D380G

Domain	Start	End	E-Value	Type
Pfam:Cylicin_N	7	115	1.1e-43	PFAM
low complexity region	122	131	N/A	INTRINSIC
low complexity region	174	220	N/A	INTRINSIC
low complexity region	224	245	N/A	INTRINSIC
low complexity region	249	272	N/A	INTRINSIC
low complexity region	278	300	N/A	INTRINSIC
low complexity region	312	329	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156384

Predicted Effect

unknown
Transcript: ENSMUST00000166749
AA Change: D380G

SMART Domains

Protein: ENSMUSP00000125758
Gene: ENSMUSG00000039555
AA Change: D380G

Domain	Start	End	E-Value	Type
Pfam:Cylicin_N	8	113	4.6e-46	PFAM
low complexity region	122	131	N/A	INTRINSIC
low complexity region	174	220	N/A	INTRINSIC
low complexity region	224	245	N/A	INTRINSIC
low complexity region	249	272	N/A	INTRINSIC
low complexity region	278	300	N/A	INTRINSIC
low complexity region	312	329	N/A	INTRINSIC
low complexity region	338	420	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 9 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano4	T	C	10: 88,948,801 (GRCm39)	E103G	possibly damaging	Het
Arid2	C	T	15: 96,267,335 (GRCm39)	P605L	possibly damaging	Het
Cts6	T	A	13: 61,349,311 (GRCm39)	R132S	probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Gabra5	A	G	7: 57,140,583 (GRCm39)	V38A	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc8b1	T	C	5: 120,662,078 (GRCm39)	S256P	probably benign	Het
Uggt1	T	C	1: 36,201,375 (GRCm39)	T1122A	probably benign	Het
Vmn2r54	T	C	7: 12,349,617 (GRCm39)	D655G	possibly damaging	Het

Other mutations in Cylc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00476:Cylc2	APN	4	51,228,157 (GRCm39)	missense	probably damaging	1.00
IGL01669:Cylc2	APN	4	51,228,360 (GRCm39)	missense	probably benign	0.01
IGL02662:Cylc2	APN	4	51,216,698 (GRCm39)	utr 5 prime	probably benign
R0277:Cylc2	UTSW	4	51,228,477 (GRCm39)	missense	unknown
R0323:Cylc2	UTSW	4	51,228,477 (GRCm39)	missense	unknown
R0968:Cylc2	UTSW	4	51,216,706 (GRCm39)	start codon destroyed	probably null	0.50
R1395:Cylc2	UTSW	4	51,228,366 (GRCm39)	missense	possibly damaging	0.53
R1639:Cylc2	UTSW	4	51,228,310 (GRCm39)	missense	probably benign	0.23
R1643:Cylc2	UTSW	4	51,225,173 (GRCm39)	missense	probably benign	0.38
R4464:Cylc2	UTSW	4	51,229,651 (GRCm39)	missense	unknown
R4467:Cylc2	UTSW	4	51,229,651 (GRCm39)	missense	unknown
R4496:Cylc2	UTSW	4	51,229,651 (GRCm39)	missense	unknown
R4505:Cylc2	UTSW	4	51,229,651 (GRCm39)	missense	unknown
R4514:Cylc2	UTSW	4	51,229,651 (GRCm39)	missense	unknown
R4546:Cylc2	UTSW	4	51,229,840 (GRCm39)	missense	unknown
R4546:Cylc2	UTSW	4	51,229,651 (GRCm39)	missense	unknown
R4654:Cylc2	UTSW	4	51,228,279 (GRCm39)	missense	probably benign	0.00
R4949:Cylc2	UTSW	4	51,229,804 (GRCm39)	missense	unknown
R5141:Cylc2	UTSW	4	51,228,587 (GRCm39)	intron	probably benign
R5176:Cylc2	UTSW	4	51,228,587 (GRCm39)	intron	probably benign
R5177:Cylc2	UTSW	4	51,228,587 (GRCm39)	intron	probably benign
R5179:Cylc2	UTSW	4	51,228,587 (GRCm39)	intron	probably benign
R7469:Cylc2	UTSW	4	51,227,970 (GRCm39)	splice site	probably null
R7508:Cylc2	UTSW	4	51,229,256 (GRCm39)	splice site	probably null
R7699:Cylc2	UTSW	4	51,229,335 (GRCm39)	missense	unknown
R8685:Cylc2	UTSW	4	51,229,651 (GRCm39)	missense	unknown
R8686:Cylc2	UTSW	4	51,229,651 (GRCm39)	missense	unknown
R8951:Cylc2	UTSW	4	51,229,469 (GRCm39)	missense	unknown
R9801:Cylc2	UTSW	4	51,228,466 (GRCm39)	missense	probably null

Predicted Primers

PCR Primer
(F):5'- AACACTTTTAAGTACAGCAGCTGAC -3'
(R):5'- GGAGTTCTTACCTTCAGTTTGC -3'

Sequencing Primer
(F):5'- TTTAAGTACAGCAGCTGACAAAGATG -3'
(R):5'- CAGTTTGCTTTTTGAACCAAGACC -3'

Posted On

2014-12-04