Mutagenetix > Incidental Mutations

Incidental Mutation 'R4464:Cylc2'

330265

Institutional Source

Beutler Lab

Gene Symbol

Cylc2

Ensembl Gene

ENSMUSG00000039555

Gene Name

cylicin, basic protein of sperm head cytoskeleton 2

Synonyms

4930488P18Rik

MMRRC Submission

041722-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R4464 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51216678-51230272 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 51229651 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Arginine at position 331 (T331R)

Ref Sequence

ENSEMBL: ENSMUSP00000125758 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000041392
AA Change: T331R

SMART Domains

Protein: ENSMUSP00000039750
Gene: ENSMUSG00000039555
AA Change: T331R

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: T331R

SMART Domains

Protein: ENSMUSP00000125758
Gene: ENSMUSG00000039555
AA Change: T331R

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

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

97% (35/36)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	T	5: 63,898,839		probably benign	Het
Abcc3	A	G	11: 94,358,786	V1111A	probably benign	Het
Acot10	G	A	15: 20,665,744	R304*	probably null	Het
Aldh8a1	C	A	10: 21,388,941		probably benign	Het
Alms1	A	G	6: 85,620,021	T1079A	possibly damaging	Het
Armc3	T	C	2: 19,248,659	Y204H	probably damaging	Het
Asnsd1	C	A	1: 53,352,527		probably null	Het
Atad5	T	A	11: 80,100,311		probably null	Het
Cst12	G	A	2: 148,789,517	V53I	possibly damaging	Het
Dennd1a	A	T	2: 38,243,390		probably benign	Het
Fam213a	T	A	14: 40,997,875	K127N	probably damaging	Het
Gm7535	C	A	17: 17,911,662		probably benign	Het
Gpr158	T	A	2: 21,826,999	M970K	probably damaging	Het
Ifngr1	G	A	10: 19,597,517	V72I	possibly damaging	Het
Kifap3	C	A	1: 163,817,895	Q269K	probably benign	Het
Krt86	G	A	15: 101,473,914	D122N	probably damaging	Het
Lrrcc1	A	G	3: 14,557,318	K694E	probably damaging	Het
Mbd4	A	G	6: 115,849,502	L155S	probably damaging	Het
Nalcn	T	C	14: 123,323,350	N772D	probably benign	Het
Olfr109	C	T	17: 37,466,851	S215F	probably damaging	Het
Psg29	A	T	7: 17,210,650	N362Y	possibly damaging	Het
Ptpn23	G	A	9: 110,386,813	T1325I	probably damaging	Het
Rad51ap1	T	C	6: 126,934,768	N52S	possibly damaging	Het
Rb1	C	A	14: 73,199,198		probably null	Het
Slc34a2	T	C	5: 53,069,182	L490P	probably damaging	Het
Sost	G	A	11: 101,966,844	P44S	probably damaging	Het
St3gal2	A	G	8: 110,967,502	N207D	probably benign	Het
Stat1	T	G	1: 52,137,416	D257E	possibly damaging	Het
Tkt	A	G	14: 30,568,274	T165A	possibly damaging	Het
Trim66	A	T	7: 109,477,690	S347R	possibly damaging	Het
Zfp429	T	C	13: 67,390,498	I276V	probably benign	Het

Other mutations in Cylc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00476:Cylc2	APN	4	51228157	missense	probably damaging	1.00
IGL01669:Cylc2	APN	4	51228360	missense	probably benign	0.01
IGL02662:Cylc2	APN	4	51216698	utr 5 prime	probably benign
R0277:Cylc2	UTSW	4	51228477	missense	unknown
R0323:Cylc2	UTSW	4	51228477	missense	unknown
R0968:Cylc2	UTSW	4	51216706	start codon destroyed	probably null	0.50
R1395:Cylc2	UTSW	4	51228366	missense	possibly damaging	0.53
R1639:Cylc2	UTSW	4	51228310	missense	probably benign	0.23
R1643:Cylc2	UTSW	4	51225173	missense	probably benign	0.38
R2829:Cylc2	UTSW	4	51229798	missense	unknown
R4467:Cylc2	UTSW	4	51229651	missense	unknown
R4496:Cylc2	UTSW	4	51229651	missense	unknown
R4505:Cylc2	UTSW	4	51229651	missense	unknown
R4514:Cylc2	UTSW	4	51229651	missense	unknown
R4546:Cylc2	UTSW	4	51229651	missense	unknown
R4546:Cylc2	UTSW	4	51229840	missense	unknown
R4654:Cylc2	UTSW	4	51228279	missense	probably benign	0.00
R4949:Cylc2	UTSW	4	51229804	missense	unknown
R5141:Cylc2	UTSW	4	51228587	intron	probably benign
R5176:Cylc2	UTSW	4	51228587	intron	probably benign
R5177:Cylc2	UTSW	4	51228587	intron	probably benign
R5179:Cylc2	UTSW	4	51228587	intron	probably benign
R7469:Cylc2	UTSW	4	51227970	splice site	probably null
R7508:Cylc2	UTSW	4	51229256	splice site	probably null
R7699:Cylc2	UTSW	4	51229335	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCAGCCACAGAATCTGGAGG -3'
(R):5'- TTGAACCAAGACCTACTTCTCC -3'

Sequencing Primer
(F):5'- ATCTGGAGGTGAAAAGGCTGGTTC -3'
(R):5'- AACCAAGACCTACTTCTCCTACTTTG -3'

Posted On

2015-07-21