Mutagenetix > Incidental Mutation

Incidental Mutation 'R8849:Ccser1'

674878

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

Is this an essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R8849 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61180324-62382865 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 61311553 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 233 (D233E)

Ref Sequence

ENSEMBL: ENSMUSP00000040251 (fasta)

Gene Model

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

AlphaFold

Q8C0C4

Predicted Effect

probably benign
Transcript: ENSMUST00000045522
AA Change: D233E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000040251
Gene: ENSMUSG00000039578
AA Change: D233E

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: ENSMUST00000126214
AA Change: D233E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000122894
Gene: ENSMUSG00000039578
AA Change: D233E

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

Meta Mutation Damage Score

0.0665

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	G	A	16: 14,621,512		probably null	Het
Adgrv1	T	C	13: 81,521,205	T2411A	probably benign	Het
Aldh5a1	T	A	13: 24,937,481	T30S	probably benign	Het
Alg1	G	A	16: 5,233,668	A7T	possibly damaging	Het
Ano10	T	A	9: 122,261,444	M268L	probably benign	Het
Avil	T	C	10: 127,008,792	V264A	possibly damaging	Het
Bicc1	T	A	10: 70,946,864	I558F	probably benign	Het
Bst1	A	T	5: 43,820,585	H92L	possibly damaging	Het
C1s2	T	C	6: 124,625,795	N486D	probably benign	Het
C87414	A	T	5: 93,636,338	H422Q	probably benign	Het
C87499	T	A	4: 88,627,777	T443S	probably benign	Het
Carmil3	A	T	14: 55,497,170	H452L	probably benign	Het
Ceacam18	G	T	7: 43,645,543	L342F	probably benign	Het
Cep95	T	A	11: 106,816,804	M691K		Het
Cfap221	G	A	1: 119,995,144	P23S	probably damaging	Het
Col20a1	T	C	2: 180,998,639	Y572H	probably damaging	Het
Cr2	C	T	1: 195,157,239	V627M	probably damaging	Het
Cul2	T	A	18: 3,423,551	H320Q	probably benign	Het
Ddx5	A	T	11: 106,785,149	V266E	probably damaging	Het
Dgkd	T	C	1: 87,918,643	V336A	probably damaging	Het
Dnah6	T	C	6: 73,144,173		probably null	Het
Dnhd1	C	A	7: 105,721,516	Q4668K	probably benign	Het
Dock7	C	T	4: 99,016,749	E630K		Het
Dolk	T	C	2: 30,284,923	E370G	probably damaging	Het
Ercc6	T	A	14: 32,569,608	L1003Q	probably damaging	Het
Fam96b	C	T	8: 104,640,967		probably null	Het
Foxc1	T	C	13: 31,808,834	S543P	unknown	Het
Gbp2b	A	C	3: 142,608,152	M398L	probably benign	Het
Gigyf2	G	T	1: 87,433,870	R908L	unknown	Het
Gm13023	A	G	4: 143,795,026	N404S	probably damaging	Het
Gpr176	T	A	2: 118,279,614	E388V	probably damaging	Het
Gpx8	C	T	13: 113,043,170	G199E	probably benign	Het
Gtf2a1l	A	G	17: 88,694,138	T141A	possibly damaging	Het
Ifi208	G	A	1: 173,678,618		probably benign	Het
Itgad	T	A	7: 128,189,985		probably benign	Het
Kif20b	C	T	19: 34,938,316	Q498*	probably null	Het
Lmo7	T	C	14: 101,926,107	Y1463H	unknown	Het
Mms19	A	T	19: 41,964,328	L114Q	probably damaging	Het
Mogs	T	C	6: 83,118,005	V601A	possibly damaging	Het
Mybpc1	T	A	10: 88,571,585	M87L	probably benign	Het
Nhlrc2	T	C	19: 56,591,752	V439A	possibly damaging	Het
Npc1l1	T	A	11: 6,229,038	H124L	probably damaging	Het
Olfr1360	T	C	13: 21,674,056	E296G	possibly damaging	Het
Opn4	A	G	14: 34,597,029	W200R	probably damaging	Het
Pax2	T	C	19: 44,760,672		probably benign	Het
Phf20	G	T	2: 156,276,520	Q381H	probably damaging	Het
Rb1	C	T	14: 73,197,269	R903Q	probably damaging	Het
Scamp4	T	A	10: 80,609,432	V37E	probably damaging	Het
Sema3e	T	C	5: 14,252,659	W733R	probably damaging	Het
Sertm1	A	G	3: 54,899,328	V92A	possibly damaging	Het
Slc4a5	T	C	6: 83,273,198	F638L	probably damaging	Het
Tprn	T	C	2: 25,269,159	S703P	probably damaging	Het
Tulp4	T	A	17: 6,222,381	M570K	probably benign	Het
Zfp433	T	C	10: 81,721,041	I459T	probably benign	Het
Zfp697	A	G	3: 98,427,627	E236G	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
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
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'- TGAAGGGGACGATTCTGGATTC -3'
(R):5'- CATTGTGGCCAAAATTGTCACAG -3'

Sequencing Primer
(F):5'- AAGTCGCCGTTCTATTAAACAGTCC -3'
(R):5'- CCAAAATTGTCACAGTGTGATGCC -3'

Posted On

2021-07-15