Mutagenetix > Incidental Mutation

Incidental Mutation 'R8055:Ccser1'

619313

Institutional Source

Beutler Lab

Gene Symbol

Ccser1

Ensembl Gene

ENSMUSG00000039578

Gene Name

coiled-coil serine rich 1

Synonyms

6230405M12Rik, C130092O11Rik, Fam190a

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R8055 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

61180324-62382865 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 61313773 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 480 (V480M)

Ref Sequence

ENSEMBL: ENSMUSP00000040251 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045522] [ENSMUST00000126214]

AlphaFold

Q8C0C4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045522
AA Change: V480M

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000040251
Gene: ENSMUSG00000039578
AA Change: V480M

Domain	Start	End	E-Value	Type
low complexity region	28	36	N/A	INTRINSIC
low complexity region	43	61	N/A	INTRINSIC
low complexity region	435	446	N/A	INTRINSIC
low complexity region	510	525	N/A	INTRINSIC
low complexity region	645	659	N/A	INTRINSIC
coiled coil region	674	703	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000126214
AA Change: V480M

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000122894
Gene: ENSMUSG00000039578
AA Change: V480M

Domain	Start	End	E-Value	Type
low complexity region	28	36	N/A	INTRINSIC
low complexity region	43	61	N/A	INTRINSIC
low complexity region	435	446	N/A	INTRINSIC
low complexity region	510	525	N/A	INTRINSIC
low complexity region	645	659	N/A	INTRINSIC
coiled coil region	674	703	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahcyl1	A	T	3: 107,668,731	D353E	probably benign	Het
Alk	G	T	17: 71,899,257	P1033T	probably benign	Het
Asb15	G	T	6: 24,556,566	C20F	probably benign	Het
BC049715	A	G	6: 136,839,915	N51S	possibly damaging	Het
Cep295	T	C	9: 15,333,609	N1184D	probably benign	Het
Cers6	C	T	2: 68,947,281	R111W	probably damaging	Het
Clybl	T	A	14: 122,377,861	D204E	probably damaging	Het
Cxcl13	T	C	5: 95,959,904	V73A	probably benign	Het
Dchs2	A	G	3: 83,129,725	N593S	probably benign	Het
Esco2	A	T	14: 65,831,719	N47K	probably benign	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fmo4	T	C	1: 162,808,446	T46A	probably benign	Het
Gm15217	T	C	14: 46,379,454		probably benign	Het
Gm9774	C	A	3: 92,428,832	G188W	unknown	Het
Gnb5	G	T	9: 75,343,544	A317S	probably benign	Het
Klf14	A	G	6: 30,957,787	V304A	probably benign	Het
Klrc2	A	T	6: 129,656,461	C209*	probably null	Het
Kmt2a	A	T	9: 44,821,081	N2646K	unknown	Het
Krt14	C	G	11: 100,204,758	V274L	possibly damaging	Het
Myo16	A	T	8: 10,562,186	D1277V	unknown	Het
Myo9a	A	T	9: 59,907,460	E2226D	probably damaging	Het
Osbpl8	T	C	10: 111,284,394	V631A	possibly damaging	Het
Piezo2	G	A	18: 63,042,811	S1833L	probably damaging	Het
Pkp4	T	C	2: 59,308,015	V203A	probably benign	Het
Primpol	T	C	8: 46,579,162	D459G	probably benign	Het
Prkdc	G	T	16: 15,816,885	R3631S	probably benign	Het
Rbbp8nl	T	C	2: 180,278,208	T558A	probably benign	Het
Rcc2	G	A	4: 140,702,275	C40Y	probably benign	Het
Rdx	G	A	9: 52,086,424	R566Q	probably damaging	Het
Rhbdf2	A	C	11: 116,607,365	S3A	probably benign	Het
Rpap1	A	T	2: 119,764,803	I1319N	probably benign	Het
Sbno2	T	A	10: 80,069,431	I206F	possibly damaging	Het
Scn1a	A	G	2: 66,319,501	V944A	probably damaging	Het
Scube1	C	T	15: 83,659,025		probably null	Het
Slc22a20	G	A	19: 5,971,411	A521V	probably benign	Het
Slc6a4	C	A	11: 77,010,598	T53K	probably benign	Het
Snapc2	G	A	8: 4,254,322	R75Q	probably damaging	Het
Sptan1	A	T	2: 29,994,339	K662I	probably benign	Het
Sycp3	T	C	10: 88,462,576	S55P	probably damaging	Het
Tet2	A	T	3: 133,467,992	V1503D	possibly damaging	Het
Tfrc	T	A	16: 32,618,656	N277K	probably benign	Het
Tlx3	A	T	11: 33,201,283	V291E	probably damaging	Het
Tnk1	A	T	11: 69,856,501	H101Q	probably benign	Het
Tns3	A	T	11: 8,545,343	D70E	probably damaging	Het
Trip11	C	A	12: 101,837,665	G1938C	probably damaging	Het
Tubg1	T	C	11: 101,124,002	L190P	probably damaging	Het
Vmn2r79	A	T	7: 87,037,333	S641C	possibly damaging	Het
Wnt8b	A	G	19: 44,493,513		probably benign	Het

Other mutations in Ccser1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Ccser1	APN	6	62380142	missense	possibly damaging	0.80
IGL00858:Ccser1	APN	6	61810665	nonsense	probably null
IGL01012:Ccser1	APN	6	61638490	missense	probably benign	0.01
IGL01391:Ccser1	APN	6	61638521	splice site	probably benign
IGL01643:Ccser1	APN	6	61311855	missense	probably benign	0.01
IGL01767:Ccser1	APN	6	61718152	missense	probably benign	0.03
IGL02081:Ccser1	APN	6	61311168	nonsense	probably null
IGL02152:Ccser1	APN	6	61311708	missense	possibly damaging	0.57
IGL02870:Ccser1	APN	6	61311292	missense	probably damaging	0.99
IGL02890:Ccser1	APN	6	62379831	missense	probably damaging	0.99
IGL03147:Ccser1	UTSW	6	61312160	missense	probably benign	0.02
R0020:Ccser1	UTSW	6	61313804	missense	possibly damaging	0.62
R0831:Ccser1	UTSW	6	61423061	missense	probably damaging	0.99
R1306:Ccser1	UTSW	6	62380106	missense	probably damaging	0.99
R1441:Ccser1	UTSW	6	62380032	missense	probably benign	0.00
R1650:Ccser1	UTSW	6	61638490	missense	probably benign	0.01
R1653:Ccser1	UTSW	6	61311465	missense	probably benign	0.00
R1913:Ccser1	UTSW	6	62379894	missense	probably damaging	0.99
R1961:Ccser1	UTSW	6	61313646	splice site	probably benign
R2030:Ccser1	UTSW	6	61311563	missense	probably benign
R2056:Ccser1	UTSW	6	61422952	splice site	probably null
R2268:Ccser1	UTSW	6	61570843	missense	probably damaging	1.00
R2280:Ccser1	UTSW	6	61570815	missense	probably damaging	1.00
R2281:Ccser1	UTSW	6	61570815	missense	probably damaging	1.00
R2571:Ccser1	UTSW	6	61422960	missense	probably damaging	1.00
R4606:Ccser1	UTSW	6	61311584	missense	probably damaging	0.99
R4711:Ccser1	UTSW	6	61311926	missense	possibly damaging	0.74
R4770:Ccser1	UTSW	6	61311501	missense	possibly damaging	0.85
R4932:Ccser1	UTSW	6	61718191	missense	possibly damaging	0.78
R5078:Ccser1	UTSW	6	61311366	missense	probably damaging	0.97
R5097:Ccser1	UTSW	6	61312160	missense	probably benign	0.02
R5221:Ccser1	UTSW	6	61312091	missense	probably damaging	0.99
R5378:Ccser1	UTSW	6	61311666	missense	probably benign	0.00
R5604:Ccser1	UTSW	6	61313804	missense	probably damaging	0.97
R5700:Ccser1	UTSW	6	61311276	missense	probably benign	0.00
R5970:Ccser1	UTSW	6	61311242	missense	possibly damaging	0.94
R6257:Ccser1	UTSW	6	61373962	missense	probably damaging	0.96
R6257:Ccser1	UTSW	6	62379785	missense	probably benign
R6375:Ccser1	UTSW	6	61311168	nonsense	probably null
R6703:Ccser1	UTSW	6	61638511	nonsense	probably null
R6930:Ccser1	UTSW	6	62380025	missense	probably benign	0.03
R7256:Ccser1	UTSW	6	61311867	missense	probably benign	0.38
R7362:Ccser1	UTSW	6	61810880	missense	unknown
R7508:Ccser1	UTSW	6	61570723	missense	probably benign	0.05
R7532:Ccser1	UTSW	6	62379931	nonsense	probably null
R7533:Ccser1	UTSW	6	61638490	missense	probably benign	0.25
R7729:Ccser1	UTSW	6	61311856	missense	probably benign
R7875:Ccser1	UTSW	6	61311948	missense	probably benign	0.06
R8396:Ccser1	UTSW	6	61312104	missense	probably benign	0.09
R8724:Ccser1	UTSW	6	61311215	missense	probably damaging	0.99
R8849:Ccser1	UTSW	6	61311553	missense	probably benign	0.00
R8906:Ccser1	UTSW	6	61810858	missense	probably benign	0.00
R9058:Ccser1	UTSW	6	61373992	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCGAGACCTTTTGAATCATTCTAG -3'
(R):5'- TCGACTACGGAAACCACTTTTC -3'

Sequencing Primer
(F):5'- TCAGTCCATACCGAGAAG -3'
(R):5'- GAAACCACTTTTCCATTGACCCTATG -3'

Posted On

2020-01-23