Mutagenetix > Incidental Mutation

Incidental Mutation 'R7532:Ccser1'

583360

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: 0.162) question?

Stock #

R7532 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

61180324-62382865 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 62379931 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 784 (C784*)

Ref Sequence

ENSEMBL: ENSMUSP00000040251 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045522] [ENSMUST00000126214] [ENSMUST00000232648]

AlphaFold

Q8C0C4

Predicted Effect

probably null
Transcript: ENSMUST00000045522
AA Change: C784*

SMART Domains

Protein: ENSMUSP00000040251
Gene: ENSMUSG00000039578
AA Change: C784*

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

probably null
Transcript: ENSMUST00000126214
AA Change: C784*

SMART Domains

Protein: ENSMUSP00000122894
Gene: ENSMUSG00000039578
AA Change: C784*

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

probably benign
Transcript: ENSMUST00000232648

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add3	T	A	19: 53,232,158	I174K	probably damaging	Het
Ano2	A	T	6: 125,963,704	I597F	probably damaging	Het
Ap1g1	T	C	8: 109,860,164	V813A	probably damaging	Het
Bpnt1	A	T	1: 185,352,326	I207F	possibly damaging	Het
Brinp3	T	A	1: 146,901,401	W529R	probably damaging	Het
C2cd2l	C	T	9: 44,315,384	R355Q	probably benign	Het
Cdh7	A	T	1: 110,138,159	D721V	probably damaging	Het
Chd9	A	G	8: 90,994,565	I994V	unknown	Het
Cst13	T	G	2: 148,823,207	Y41D	probably benign	Het
Cyth2	C	T	7: 45,808,024	A342T	probably benign	Het
Dapk1	T	C	13: 60,730,886	L563P	probably damaging	Het
Dclk3	T	G	9: 111,467,528	S47A	probably benign	Het
Dync1h1	C	A	12: 110,651,577	N3183K	probably benign	Het
Enpp1	C	T	10: 24,675,987	V165M	probably benign	Het
Ephx3	T	C	17: 32,188,789	N173S	possibly damaging	Het
Erc1	T	A	6: 119,779,631	D388V	probably benign	Het
Esp34	T	G	17: 38,559,620	V135G	possibly damaging	Het
Gfy	G	A	7: 45,178,037	P212S	probably damaging	Het
Gm5239	C	T	18: 35,536,742	R54C	probably benign	Het
Gtpbp3	T	C	8: 71,489,463	F113L	probably benign	Het
Hectd1	T	A	12: 51,790,450	D775V	probably damaging	Het
Ifrd2	T	G	9: 107,592,522	S431R	probably damaging	Het
Impg2	G	A	16: 56,267,180	A1121T	probably damaging	Het
Irx1	A	G	13: 71,960,195	F123L	possibly damaging	Het
Itgb6	C	T	2: 60,669,213	V79I	probably benign	Het
Kcnd3	G	A	3: 105,668,210	R550H	probably damaging	Het
Klhl9	A	T	4: 88,720,853	S384T	possibly damaging	Het
Kng2	T	C	16: 23,027,044		probably null	Het
Lipo3	T	C	19: 33,583,064	N67S	possibly damaging	Het
Mgst1	T	C	6: 138,153,506	S78P	probably benign	Het
Ms4a14	A	G	19: 11,303,959	Y412H	possibly damaging	Het
Mucl2	A	C	15: 103,896,052	I124S	unknown	Het
Myh3	A	G	11: 67,091,095	M806V	probably benign	Het
Nelfcd	T	C	2: 174,426,396	L501P	probably damaging	Het
Nlrp6	C	A	7: 140,925,184	P748Q	probably benign	Het
Olfr341	C	T	2: 36,480,126	M1I	probably null	Het
Olfr430	T	C	1: 174,070,098	S267P	probably benign	Het
Plxna2	G	A	1: 194,644,819	A354T	probably benign	Het
Prpf39	G	T	12: 65,053,371	V273L	probably benign	Het
Rad9a	T	C	19: 4,201,523		probably benign	Het
Rnf135	A	G	11: 80,198,906	D356G	probably benign	Het
Rragd	G	T	4: 33,004,166	A153S	possibly damaging	Het
Selenot	G	T	3: 58,585,232	V47L	probably benign	Het
Smc2	T	C	4: 52,451,013	L277P	probably damaging	Het
Sp7	A	G	15: 102,359,149	F92S	possibly damaging	Het
Spata1	A	T	3: 146,468,191	I380N	possibly damaging	Het
Spdye4b	G	T	5: 143,194,897	R39S	possibly damaging	Het
Stom	C	A	2: 35,321,577	R144L	possibly damaging	Het
Tex37	T	C	6: 70,913,637	K57R	probably benign	Het
Tsc22d1	T	C	14: 76,416,046		probably benign	Het
Unc13b	A	G	4: 43,249,565	T998A	probably benign	Het
Vcl	C	A	14: 21,029,324	A965D	probably damaging	Het
Vmn1r69	A	T	7: 10,580,354	V150D	probably damaging	Het
Vmn1r90	T	G	7: 14,561,264	N303T	possibly damaging	Het
Vmn2r69	A	T	7: 85,410,414	M429K	probably benign	Het
Vmn2r8	T	A	5: 108,802,240	Y247F	probably benign	Het
Washc5	A	T	15: 59,367,411	S168T	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- GCTTCAGGTTTGTACATAAGGG -3'
(R):5'- TTCTGAGAACATGGGCAGC -3'

Sequencing Primer
(F):5'- CAGGACACTGTAAGATGGTTTTTC -3'
(R):5'- TGAGAACATGGGCAGCCCTTC -3'

Posted On

2019-10-17