Mutagenetix > Incidental Mutation

Incidental Mutation 'R6257:Ccser1'

506388

Institutional Source

Beutler Lab

Gene Symbol

Ccser1

Ensembl Gene

ENSMUSG00000039578

Gene Name

coiled-coil serine rich 1

Synonyms

6230405M12Rik, C130092O11Rik, Fam190a

MMRRC Submission

044374-MU

Accession Numbers

Essential gene?

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

Stock #

R6257 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61180324-62382865 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61373962 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 501 (D501G)

Ref Sequence

ENSEMBL: ENSMUSP00000122894 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045522] [ENSMUST00000067307] [ENSMUST00000126214]

AlphaFold

Q8C0C4

Predicted Effect

probably damaging
Transcript: ENSMUST00000045522
AA Change: D501G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000040251
Gene: ENSMUSG00000039578
AA Change: D501G

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: ENSMUST00000067307

SMART Domains

Protein: ENSMUSP00000067639
Gene: ENSMUSG00000039578

Domain	Start	End	E-Value	Type
low complexity region	1	13	N/A	INTRINSIC
low complexity region	133	147	N/A	INTRINSIC
coiled coil region	162	191	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000126214
AA Change: D501G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122894
Gene: ENSMUSG00000039578
AA Change: D501G

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: ENSMUST00000145554

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147576

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203112

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204337

Meta Mutation Damage Score

0.2251

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.4%

Validation Efficiency

97% (74/76)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	A	T	17: 35,961,182	N313K	probably benign	Het
Adamts2	T	C	11: 50,775,326	V383A	probably damaging	Het
Adamts6	A	T	13: 104,462,282	Q877L	probably benign	Het
Adgre4	C	T	17: 55,802,133	T380I	possibly damaging	Het
Aspm	A	G	1: 139,482,053		probably null	Het
Atg16l2	A	G	7: 101,301,895		probably null	Het
Bcl6b	C	T	11: 70,226,052	R467H	probably benign	Het
Cacna2d4	G	A	6: 119,281,619		probably null	Het
Casp8ap2	A	G	4: 32,641,364	D806G	possibly damaging	Het
Ccdc13	A	G	9: 121,798,909		probably benign	Het
Cd164l2	T	A	4: 133,221,034	C19S	unknown	Het
Cdk15	G	A	1: 59,257,105		probably null	Het
Cebpz	T	C	17: 78,935,832	E131G	probably benign	Het
Ces1d	T	C	8: 93,166,397	D519G	probably benign	Het
Cftr	A	C	6: 18,282,501	T1067P	probably benign	Het
Chd1	T	G	17: 15,730,203		probably null	Het
Chil4	T	A	3: 106,204,096	D234V	possibly damaging	Het
Cldn16	T	A	16: 26,481,330	S173T	probably damaging	Het
Cpd	A	T	11: 76,812,670	F456I	probably benign	Het
Cst8	C	A	2: 148,805,445	A125E	probably damaging	Het
Dars2	G	T	1: 161,041,828	P617Q	probably damaging	Het
Defb26	A	G	2: 152,507,940	V140A	unknown	Het
Dntt	T	G	19: 41,053,062	V395G	probably damaging	Het
Dock10	G	A	1: 80,503,696		probably benign	Het
Dscam	T	C	16: 96,673,714	N1216S	possibly damaging	Het
En1	A	T	1: 120,603,907	D292V	unknown	Het
Erbb4	A	T	1: 68,396,273	L155Q	probably damaging	Het
Erbin	T	C	13: 103,862,288	T197A	probably benign	Het
Fat2	A	G	11: 55,262,581	F3602L	probably benign	Het
Fuk	A	T	8: 110,890,545	C365S	probably benign	Het
Gm3443	A	T	19: 21,555,711	D13V	unknown	Het
Gm6401	T	C	14: 41,967,871	Q10R	probably benign	Het
Gmcl1	G	A	6: 86,700,641	T410I	possibly damaging	Het
Grid2ip	G	A	5: 143,380,429	S379N	probably damaging	Het
H2-T24	T	A	17: 36,014,682	T305S	probably benign	Het
Ksr2	A	T	5: 117,414,844	M6L	probably benign	Het
Lama2	A	G	10: 26,986,899	L2956S	possibly damaging	Het
Lhfpl3	A	G	5: 22,746,559	T123A	probably benign	Het
Lrp1b	T	A	2: 40,596,969		probably null	Het
Ltn1	G	A	16: 87,411,774	A812V	possibly damaging	Het
Maml2	C	T	9: 13,620,426	S312L	probably damaging	Het
Myo7b	T	A	18: 32,013,415	N106Y	probably damaging	Het
Nacc2	A	T	2: 26,060,408	C439S	probably damaging	Het
Ncoa7	A	G	10: 30,694,177	I224T	probably damaging	Het
Nf1	A	T	11: 79,549,491	L2303F	probably damaging	Het
Noc3l	A	T	19: 38,795,905		probably null	Het
Nup155	C	T	15: 8,150,798	R1120*	probably null	Het
Oas3	C	A	5: 120,761,135		probably benign	Het
Ocln	T	C	13: 100,539,509	I159V	probably benign	Het
Olfr315	T	A	11: 58,779,003	V292E	probably damaging	Het
Olfr406	T	C	11: 74,270,007	V206A	probably damaging	Het
Os9	A	C	10: 127,119,137	C181G	probably damaging	Het
Phldb1	C	T	9: 44,696,140	R1256Q	probably damaging	Het
Pkd1l1	G	A	11: 8,942,195	T208I	probably benign	Het
Plppr4	T	C	3: 117,322,579	Q485R	possibly damaging	Het
Prkcb	T	A	7: 122,568,163	D365E	probably benign	Het
Ptprz1	T	A	6: 22,959,640	N45K	probably damaging	Het
Rbl2	T	C	8: 91,115,678	L987P	probably damaging	Het
Runx1	T	A	16: 92,695,911		probably benign	Het
Sept4	C	A	11: 87,590,349	Q372K	probably benign	Het
Slc24a4	A	G	12: 102,254,510	E400G	probably benign	Het
Smtnl2	G	A	11: 72,401,399	A274V	probably damaging	Het
Sri	T	A	5: 8,059,596		probably null	Het
St3gal3	C	T	4: 118,107,678		probably benign	Het
Tfpt	A	T	7: 3,629,567	L3*	probably null	Het
Tgfb3	T	C	12: 86,077,841	D31G	possibly damaging	Het
Thsd7a	G	T	6: 12,408,988	C678*	probably null	Het
Tmbim1	A	G	1: 74,293,066	Y101H	probably damaging	Het
Tmem17	A	G	11: 22,512,297		probably benign	Het
Tmprss15	A	T	16: 78,972,225	V769E	probably damaging	Het
Trak1	C	T	9: 121,446,755	R175C	probably damaging	Het
Trak1	G	T	9: 121,367,224	V41F	possibly damaging	Het
Trim30c	T	C	7: 104,390,168	Y140C	probably damaging	Het
Tubgcp3	A	T	8: 12,649,835		probably null	Het
Ubr7	T	A	12: 102,765,840	C158*	probably null	Het
Vmn2r79	A	T	7: 87,002,570	L392F	probably benign	Het
Zfp536	T	A	7: 37,480,405	D925V	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	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

Predicted Primers

PCR Primer
(F):5'- TTTATGGCAGTTAAAATAGGTGGGC -3'
(R):5'- TGTCTAGATTATTGTGAAAAGCTGCAC -3'

Sequencing Primer
(F):5'- TGTGAAAACAGGCATTTTTATTCTG -3'
(R):5'- TTGTGAAAAGCTGCACTTAAAGCG -3'

Posted On

2018-03-15