Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01473:Cylc1'

88363

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cylc1

Ensembl Gene

ENSMUSG00000073001

Gene Name

cylicin, basic protein of sperm head cytoskeleton 1

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01473

Quality Score

Status

Chromosome

Chromosomal Location

111110418-111125854 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 111122680 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 243 (K243N)

Ref Sequence

ENSEMBL: ENSMUSP00000147334 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101282] [ENSMUST00000210720]

AlphaFold

A0A1B0GR13

Predicted Effect

unknown
Transcript: ENSMUST00000101282
AA Change: K243N

SMART Domains

Protein: ENSMUSP00000098840
Gene: ENSMUSG00000073001
AA Change: K243N

Domain	Start	End	E-Value	Type
Pfam:Cylicin_N	26	131	2.8e-42	PFAM
low complexity region	307	330	N/A	INTRINSIC
low complexity region	334	371	N/A	INTRINSIC
low complexity region	376	398	N/A	INTRINSIC
low complexity region	402	420	N/A	INTRINSIC
low complexity region	421	450	N/A	INTRINSIC
low complexity region	467	491	N/A	INTRINSIC
low complexity region	513	523	N/A	INTRINSIC
low complexity region	532	542	N/A	INTRINSIC
low complexity region	549	562	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000210720
AA Change: K243N

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp13a5	T	C	16: 29,316,724	Y350C	probably damaging	Het
Ccdc151	C	A	9: 21,995,379		probably null	Het
Clca1	C	T	3: 145,007,778	M697I	probably benign	Het
Clcn1	C	A	6: 42,291,703	A181D	probably damaging	Het
Dsp	A	G	13: 38,167,571	Y122C	probably damaging	Het
Exoc5	A	G	14: 49,014,294	V665A	possibly damaging	Het
Fcho1	G	A	8: 71,712,138	P500S	probably benign	Het
Flg2	A	G	3: 93,203,020	E785G	unknown	Het
Fpr1	A	G	17: 17,877,692	S12P	possibly damaging	Het
Hydin	A	T	8: 110,312,160	M177L	probably benign	Het
Hydin	G	T	8: 110,354,953	G327V	probably damaging	Het
Itga10	G	A	3: 96,647,641	G97E	probably damaging	Het
Khdc1c	T	A	1: 21,368,906	Y39N	possibly damaging	Het
Lrp1b	T	G	2: 40,611,486	T202P	probably damaging	Het
March10	T	C	11: 105,389,605	K618R	probably damaging	Het
Mdc1	C	A	17: 35,848,020	L431I	probably benign	Het
Mmp17	A	G	5: 129,606,408	D536G	probably benign	Het
Myh8	G	A	11: 67,301,825		probably null	Het
Pop4	A	G	7: 38,264,396	V154A	probably benign	Het
Ppp1r13l	C	T	7: 19,375,268	R608C	probably damaging	Het
Prss36	T	C	7: 127,944,701	H166R	probably damaging	Het
Rab11fip3	C	T	17: 26,068,735	R148Q	possibly damaging	Het
Rbm39	T	A	2: 156,172,979	R49*	probably null	Het
S100a11	T	C	3: 93,526,106	C86R	probably damaging	Het
Skint7	T	C	4: 111,982,205	I232T	probably damaging	Het
Smchd1	G	A	17: 71,389,750	T1210I	probably benign	Het
Speg	C	T	1: 75,428,285	T2907I	possibly damaging	Het
Spz1	A	T	13: 92,575,256	C237*	probably null	Het
Sun3	G	T	11: 9,029,394	D42E	probably benign	Het
Tgds	C	T	14: 118,128,214		probably benign	Het
Tnxb	G	A	17: 34,685,701	D1270N	probably damaging	Het
Vmn2r78	A	C	7: 86,920,312	T138P	possibly damaging	Het
Wdfy1	T	C	1: 79,707,465	I351V	probably benign	Het

Other mutations in Cylc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01517:Cylc1	APN	X	111119030	missense	possibly damaging	0.71
IGL01656:Cylc1	APN	X	111123716	missense	probably benign	0.35
IGL02944:Cylc1	APN	X	111123604	missense	possibly damaging	0.91
IGL03029:Cylc1	APN	X	111113338	splice site	probably benign
IGL03057:Cylc1	APN	X	111122601	missense	unknown
R2060:Cylc1	UTSW	X	111123123	missense	unknown
Z1176:Cylc1	UTSW	X	111123146	missense	unknown
Z1177:Cylc1	UTSW	X	111122279	missense	probably benign	0.03

Posted On

2013-11-18