Mutagenetix > Incidental Mutation

Incidental Mutation 'R0020:Ccser1'

8380

Institutional Source

Beutler Lab

Gene Symbol

Ccser1

Ensembl Gene

ENSMUSG00000039578

Gene Name

coiled-coil serine rich 1

Synonyms

6230405M12Rik, C130092O11Rik, Fam190a

MMRRC Submission

038315-MU

Accession Numbers

Essential gene?

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

Stock #

R0020 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

61180324-62382865 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 61313804 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 490 (T490K)

Ref Sequence

ENSEMBL: ENSMUSP00000122894 (fasta)

Gene Model

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

AlphaFold

Q8C0C4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045522
AA Change: T490K

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000040251
Gene: ENSMUSG00000039578
AA Change: T490K

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: T490K

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000122894
Gene: ENSMUSG00000039578
AA Change: T490K

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

noncoding transcript
Transcript: ENSMUST00000131989

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133478

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147576

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 82.6%
3x: 76.6%
10x: 60.3%
20x: 42.3%

Validation Efficiency

92% (100/109)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930021J03Rik	A	T	19: 29,716,197	D2032E	probably damaging	Het
Agfg2	C	T	5: 137,653,802	V432M	probably benign	Het
Akap11	A	T	14: 78,518,177	I74K	probably benign	Het
Atf2	T	C	2: 73,846,284	D122G	possibly damaging	Het
AW549877	T	C	15: 3,991,868		probably benign	Het
C330027C09Rik	A	T	16: 49,001,612	H201L	probably damaging	Het
Clstn1	G	A	4: 149,634,796	V361M	probably damaging	Het
Cnga4	G	T	7: 105,405,677	R53L	probably damaging	Het
Col6a3	T	A	1: 90,811,550	I319F	probably damaging	Het
Cst11	T	A	2: 148,771,333	Y24F	probably damaging	Het
Cstb	T	A	10: 78,427,336	V65E	probably benign	Het
Cyp2j11	G	A	4: 96,307,404	H352Y	probably benign	Het
Ezr	G	T	17: 6,742,727	Q308K	probably damaging	Het
F3	A	T	3: 121,731,616	N169Y	probably damaging	Het
Fbp2	A	T	13: 62,854,048	F118I	probably damaging	Het
Fcho1	C	T	8: 71,716,870	G131R	probably benign	Het
Fhl5	A	T	4: 25,200,054	V260E	probably benign	Het
Gm6614	A	T	6: 141,972,350	V600E	possibly damaging	Het
Grasp	T	C	15: 101,230,552	V157A	probably damaging	Het
Kcna10	A	T	3: 107,195,420	I456F	probably damaging	Het
Loxl2	T	C	14: 69,660,793	V232A	probably damaging	Het
Megf10	G	T	18: 57,287,893	V868F	possibly damaging	Het
Megf9	A	G	4: 70,488,149	V260A	probably benign	Het
Nampt	A	T	12: 32,841,013	S278C	probably damaging	Het
Nap1l1	A	C	10: 111,491,023	E148D	probably benign	Het
Pamr1	C	T	2: 102,642,078	T574I	probably benign	Het
Pde4d	T	A	13: 109,954,570	C35S	possibly damaging	Het
Pkd1l1	A	G	11: 8,875,765		probably benign	Het
Pkd2	A	G	5: 104,503,516	E910G	probably damaging	Het
Pkhd1l1	A	G	15: 44,556,872	Y3002C	probably damaging	Het
Ppp6r2	T	A	15: 89,259,139	M163K	probably damaging	Het
Prdm4	T	C	10: 85,907,623	N256S	probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Scube2	A	G	7: 109,830,888		probably benign	Het
Sptbn5	T	A	2: 120,065,631	I779F	probably damaging	Het
Uspl1	A	G	5: 149,209,779	T447A	probably damaging	Het
Zfp282	T	G	6: 47,880,009	W59G	probably damaging	Het
Zfp629	C	G	7: 127,611,169	E489D	probably benign	Het
Zfp746	C	A	6: 48,064,707	A362S	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
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
R8055:Ccser1	UTSW	6	61313773	missense	possibly damaging	0.47
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

Posted On

2012-11-27