Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02944:Cylc1'

364657

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

4930401M13Rik

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02944

Quality Score

Status

Chromosome

Chromosomal Location

110154024-110169624 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110167373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 551 (D551E)

Ref Sequence

ENSEMBL: ENSMUSP00000147334 (fasta)

Gene Model

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

AlphaFold

A0A1B0GR13

Predicted Effect

possibly damaging
Transcript: ENSMUST00000101282
AA Change: D551E

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000098840
Gene: ENSMUSG00000073001
AA Change: D551E

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

possibly damaging
Transcript: ENSMUST00000210720
AA Change: D551E

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	A	G	7: 75,258,405 (GRCm39)	Q343R	probably benign	Het
Antxr1	T	A	6: 87,165,141 (GRCm39)	N432I	possibly damaging	Het
Arhgap15	T	C	2: 44,032,362 (GRCm39)		probably null	Het
Atp6v1h	T	A	1: 5,163,578 (GRCm39)		probably benign	Het
Cav2	T	C	6: 17,281,456 (GRCm39)	Y33H	probably damaging	Het
Ccdc175	T	A	12: 72,164,667 (GRCm39)	D585V	probably benign	Het
Coro7	T	C	16: 4,453,276 (GRCm39)	D271G	probably benign	Het
Dnah1	A	T	14: 31,022,828 (GRCm39)	I1103N	possibly damaging	Het
Gmds	T	A	13: 32,522,435 (GRCm39)	Y11F	probably benign	Het
Igkv13-54-1	C	T	6: 69,594,374 (GRCm39)		noncoding transcript	Het
Irf8	A	G	8: 121,481,864 (GRCm39)	T318A	probably benign	Het
Lrrc40	G	A	3: 157,747,302 (GRCm39)		probably benign	Het
Mageb11	A	G	X: 89,935,868 (GRCm39)	K41E	probably benign	Het
Mbd1	G	A	18: 74,410,481 (GRCm39)	G428E	probably damaging	Het
Myom2	A	T	8: 15,154,065 (GRCm39)		probably null	Het
Nav2	C	T	7: 49,070,004 (GRCm39)	R287W	probably damaging	Het
Nfs1	C	T	2: 155,969,688 (GRCm39)	D320N	probably damaging	Het
Nlrp9a	A	T	7: 26,258,076 (GRCm39)	T565S	probably benign	Het
Nod1	A	T	6: 54,901,932 (GRCm39)	I951N	possibly damaging	Het
Or1n1b	T	G	2: 36,780,800 (GRCm39)	E20A	possibly damaging	Het
Or2ag1b	A	G	7: 106,288,476 (GRCm39)	L154P	probably damaging	Het
Or52e8b	A	G	7: 104,674,130 (GRCm39)	L19P	probably damaging	Het
Or8d2	A	T	9: 38,760,048 (GRCm39)	I213F	possibly damaging	Het
Pkhd1l1	T	C	15: 44,364,927 (GRCm39)	Y689H	probably damaging	Het
Ppp2r5c	A	G	12: 110,534,234 (GRCm39)	I366V	probably benign	Het
Ppp3cb	T	C	14: 20,578,303 (GRCm39)	Y149C	probably damaging	Het
Prdm1	T	C	10: 44,317,807 (GRCm39)	S354G	probably benign	Het
Ralgapa1	T	A	12: 55,804,736 (GRCm39)	Q520L	probably benign	Het
Slc25a54	A	T	3: 108,987,931 (GRCm39)	Y24F	probably benign	Het
Slfn3	T	A	11: 83,103,837 (GRCm39)	V236E	probably damaging	Het
Syt6	A	G	3: 103,482,865 (GRCm39)		probably benign	Het
Trim30a	G	T	7: 104,084,984 (GRCm39)	N75K	probably benign	Het
Vmn1r175	T	C	7: 23,508,591 (GRCm39)	E12G	probably damaging	Het
Xylt1	A	T	7: 117,233,984 (GRCm39)	T504S	probably benign	Het

Other mutations in Cylc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01473:Cylc1	APN	X	110,166,449 (GRCm39)	missense	unknown
IGL01517:Cylc1	APN	X	110,162,799 (GRCm39)	missense	possibly damaging	0.71
IGL01656:Cylc1	APN	X	110,167,485 (GRCm39)	missense	probably benign	0.35
IGL03029:Cylc1	APN	X	110,156,944 (GRCm39)	splice site	probably benign
IGL03057:Cylc1	APN	X	110,166,370 (GRCm39)	missense	unknown
R2060:Cylc1	UTSW	X	110,166,892 (GRCm39)	missense	unknown
Z1176:Cylc1	UTSW	X	110,166,915 (GRCm39)	missense	unknown
Z1177:Cylc1	UTSW	X	110,166,048 (GRCm39)	missense	probably benign	0.03

Posted On

2015-12-18