Mutagenetix > Incidental Mutation

Incidental Mutation 'R6375:Ccser1'

514910

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 #

R6375 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61180324-62382865 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 61311168 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 105 (L105*)

Ref Sequence

ENSEMBL: ENSMUSP00000122894 (fasta)

Gene Model

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

AlphaFold

Q8C0C4

Predicted Effect

probably null
Transcript: ENSMUST00000045522
AA Change: L105*

SMART Domains

Protein: ENSMUSP00000040251
Gene: ENSMUSG00000039578
AA Change: L105*

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: L105*

SMART Domains

Protein: ENSMUSP00000122894
Gene: ENSMUSG00000039578
AA Change: L105*

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

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,387,562	I797N	possibly damaging	Het
Actbl2	A	G	13: 111,255,944	E271G	probably damaging	Het
Aplp2	T	C	9: 31,157,788	N526D	probably benign	Het
Cacna1e	A	C	1: 154,479,305	N389K	probably damaging	Het
Ccdc18	T	C	5: 108,174,954	I640T	possibly damaging	Het
Ccdc39	T	A	3: 33,814,367	T857S	probably benign	Het
Efhc1	T	A	1: 20,972,940	M361K	probably benign	Het
Eml5	T	C	12: 98,798,868			Het
Fgfr2	C	A	7: 130,167,745	L637F	probably damaging	Het
Fmo9	A	G	1: 166,664,595		probably null	Het
Gm4302	A	G	10: 100,341,396	T181A	probably benign	Het
Gpat2	G	C	2: 127,431,918	G294R	possibly damaging	Het
Hoxb4	A	G	11: 96,320,327	*251W	probably null	Het
Il1r1	T	A	1: 40,294,890	Y207N	probably damaging	Het
Kcnc2	C	T	10: 112,463,189	T622M	possibly damaging	Het
Kcnk9	C	T	15: 72,546,243	A13T	probably benign	Het
Kdm4c	C	T	4: 74,330,715	P69S	probably damaging	Het
Kmt2e	T	C	5: 23,499,519	S1237P	probably benign	Het
Lrrc37a	G	A	11: 103,501,089	T1170I	probably benign	Het
Lyn	T	A	4: 3,745,527	F109I	probably damaging	Het
Lynx1	T	C	15: 74,751,319	Y88C	probably damaging	Het
Mon1b	T	A	8: 113,638,077	I162N	probably damaging	Het
Muc4	A	G	16: 32,736,243		probably benign	Het
Nbn	T	A	4: 15,979,327	F437L	probably benign	Het
Neil3	T	C	8: 53,587,276	K564E	possibly damaging	Het
Nfe2l1	A	T	11: 96,820,051	S293T	probably damaging	Het
Olfr121	T	A	17: 37,752,099	S82T	probably benign	Het
Olfr292	C	T	7: 86,695,059	A201V	probably benign	Het
Olfr577	T	C	7: 102,973,753	T80A	probably damaging	Het
Olfr706	C	A	7: 106,886,014	A268S	probably benign	Het
Pcdhb22	A	T	18: 37,518,304		probably benign	Het
Pcdhgb6	A	G	18: 37,742,625	N129D	probably damaging	Het
Pias2	C	T	18: 77,152,670	T574M	possibly damaging	Het
Plec	G	A	15: 76,177,640	T2564I	probably damaging	Het
Qrich2	A	G	11: 116,458,228		probably benign	Het
Scgb1b12	T	A	7: 32,334,459	V48E	probably damaging	Het
Scn5a	A	T	9: 119,543,356	L224Q	probably damaging	Het
Snx3	T	A	10: 42,534,731	Y132*	probably null	Het
Stk39	T	A	2: 68,392,238	I161F	probably benign	Het
Tcaf2	A	C	6: 42,626,178	L816R	probably damaging	Het
Thap4	C	A	1: 93,725,156		probably null	Het
Tmc5	T	A	7: 118,656,814	V704E	probably damaging	Het
Tmem39a	A	G	16: 38,585,237	T59A	probably benign	Het
Tshz2	A	G	2: 169,886,019	N376S	probably damaging	Het
Vmn1r60	T	C	7: 5,545,018	N28D	probably damaging	Het
Zfp637	C	T	6: 117,845,324	R138W	probably 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
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

Predicted Primers

PCR Primer
(F):5'- TTCCAGCACTAACTCGAGCTC -3'
(R):5'- AGCAGCTTCTTGGTGGACTG -3'

Sequencing Primer
(F):5'- CACTAACTCGAGCTCAGGGAG -3'
(R):5'- TGTGAATCCAGAATCGTCCC -3'

Posted On

2018-05-04