Mutagenetix > Incidental Mutation

Incidental Mutation 'R9058:Ccser1'

688810

Institutional Source

Beutler Lab

Gene Symbol

Ccser1

Ensembl Gene

ENSMUSG00000039578

Gene Name

coiled-coil serine rich 1

Synonyms

6230405M12Rik, Fam190a, C130092O11Rik

MMRRC Submission

068884-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R9058 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

61157308-62359849 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61350976 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 511 (L511P)

Ref Sequence

ENSEMBL: ENSMUSP00000040251 (fasta)

Gene Model

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

AlphaFold

Q8C0C4

Predicted Effect

probably damaging
Transcript: ENSMUST00000045522
AA Change: L511P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000040251
Gene: ENSMUSG00000039578
AA Change: L511P

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: L511P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000122894
Gene: ENSMUSG00000039578
AA Change: L511P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox1	T	C	11: 116,080,268 (GRCm39)	T135A	possibly damaging	Het
Adrm1b	A	T	3: 92,335,559 (GRCm39)	M283K	probably benign	Het
Aldh8a1	T	C	10: 21,258,344 (GRCm39)	I147T	possibly damaging	Het
Alkbh5	T	C	11: 60,444,548 (GRCm39)	L288S	probably benign	Het
Bpifb5	A	G	2: 154,080,817 (GRCm39)	D478G	possibly damaging	Het
Cacna1s	A	T	1: 135,998,436 (GRCm39)	K155*	probably null	Het
Cebpz	A	T	17: 79,243,227 (GRCm39)	N142K	probably benign	Het
Cfap299	A	T	5: 98,932,400 (GRCm39)	D200V	probably damaging	Het
Clip1	G	T	5: 123,752,645 (GRCm39)	R379S		Het
Cpne8	T	A	15: 90,381,276 (GRCm39)	I513F	probably damaging	Het
Ctnnb1	T	A	9: 120,780,476 (GRCm39)	C213*	probably null	Het
Dnah7b	A	G	1: 46,282,575 (GRCm39)	K2903E	probably damaging	Het
Dnah7c	G	T	1: 46,805,816 (GRCm39)	G3422W	probably damaging	Het
Dnhd1	T	A	7: 105,333,270 (GRCm39)	H247Q	probably benign	Het
Efna2	A	G	10: 80,022,720 (GRCm39)	Y88C	probably damaging	Het
Eppk1	C	T	15: 75,992,265 (GRCm39)	G1539R	probably benign	Het
Exoc3l2	A	T	7: 19,203,821 (GRCm39)	K138*	probably null	Het
Fam47e	A	G	5: 92,719,367 (GRCm39)		probably benign	Het
Frmpd1	T	A	4: 45,283,948 (GRCm39)	M923K	probably damaging	Het
Gbe1	A	G	16: 70,324,059 (GRCm39)	E558G	possibly damaging	Het
Gm5431	T	C	11: 48,786,049 (GRCm39)	T109A	probably benign	Het
Gm9508	G	A	10: 77,532,620 (GRCm39)	P150S	unknown	Het
Grep1	T	C	17: 23,935,016 (GRCm39)	N63S	probably benign	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Hrob	T	C	11: 102,146,386 (GRCm39)	S221P	probably benign	Het
Hsfy2	A	T	1: 56,676,504 (GRCm39)	V11D	probably benign	Het
Kif13a	T	C	13: 46,944,941 (GRCm39)	N887D	probably damaging	Het
Kirrel1	A	G	3: 86,992,442 (GRCm39)	V541A	probably benign	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Lamc3	G	A	2: 31,798,653 (GRCm39)	R453H	probably benign	Het
Mideas	A	G	12: 84,220,642 (GRCm39)	M104T	probably damaging	Het
Muc6	G	C	7: 141,218,154 (GRCm39)	T2173S	possibly damaging	Het
Neb	T	C	2: 52,075,341 (GRCm39)	N208S	probably benign	Het
Nlrc5	A	T	8: 95,238,938 (GRCm39)	T1459S	possibly damaging	Het
Npy1r	T	C	8: 67,156,600 (GRCm39)	S7P	probably benign	Het
Nr4a2	T	C	2: 57,002,255 (GRCm39)	N66S	probably benign	Het
Nr5a1	T	C	2: 38,584,034 (GRCm39)	T462A	probably damaging	Het
Ntng2	A	G	2: 29,094,202 (GRCm39)	C390R	probably benign	Het
Or4p23	A	C	2: 88,577,030 (GRCm39)	D67E		Het
Or5b119	G	A	19: 13,456,956 (GRCm39)	T202I	possibly damaging	Het
Or7g12	T	A	9: 18,900,222 (GRCm39)	*313R	probably null	Het
Pecam1	G	T	11: 106,590,675 (GRCm39)	P33Q	probably damaging	Het
Phc2	T	A	4: 128,616,769 (GRCm39)	F347L	probably benign	Het
Phldb2	T	A	16: 45,592,604 (GRCm39)	H938L	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Prkch	G	T	12: 73,822,308 (GRCm39)		probably null	Het
Prr5	A	G	15: 84,641,241 (GRCm39)	N169S	probably benign	Het
Puf60	C	T	15: 75,942,425 (GRCm39)	D483N	probably benign	Het
Puf60	C	T	15: 75,944,382 (GRCm39)	M133I	probably benign	Het
Rmnd1	T	C	10: 4,363,398 (GRCm39)	H284R	probably benign	Het
Scaper	T	C	9: 55,722,762 (GRCm39)	E682G	probably damaging	Het
Sds	A	G	5: 120,618,779 (GRCm39)	E111G	possibly damaging	Het
Sec23b	T	A	2: 144,424,010 (GRCm39)	I553N	probably damaging	Het
Serpina1a	A	T	12: 103,820,001 (GRCm39)	I415K	possibly damaging	Het
Slc14a1	T	A	18: 78,145,785 (GRCm39)		probably null	Het
Socs1	G	A	16: 10,602,692 (GRCm39)	P15L	probably benign	Het
Sv2b	A	T	7: 74,789,822 (GRCm39)		probably null	Het
Sync	T	C	4: 129,187,217 (GRCm39)	I83T	probably damaging	Het
Syt16	T	A	12: 74,282,019 (GRCm39)	L381Q	probably damaging	Het
Tbx20	T	C	9: 24,681,019 (GRCm39)	R158G	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tmem19	C	A	10: 115,198,031 (GRCm39)		probably benign	Het
Trpa1	A	C	1: 14,959,618 (GRCm39)	N689K	probably damaging	Het
Ube3b	C	A	5: 114,553,300 (GRCm39)	H891N	probably benign	Het
Vmn2r19	T	A	6: 123,313,021 (GRCm39)	M697K	possibly damaging	Het
Zfp142	A	T	1: 74,608,955 (GRCm39)	C1613*	probably null	Het
Zfp7	T	A	15: 76,764,981 (GRCm39)	M1K	probably null	Het
Zfp936	A	T	7: 42,839,196 (GRCm39)	Q221L	probably benign	Het

Other mutations in Ccser1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Ccser1	APN	6	62,357,126 (GRCm39)	missense	possibly damaging	0.80
IGL00858:Ccser1	APN	6	61,787,649 (GRCm39)	nonsense	probably null
IGL01012:Ccser1	APN	6	61,615,474 (GRCm39)	missense	probably benign	0.01
IGL01391:Ccser1	APN	6	61,615,505 (GRCm39)	splice site	probably benign
IGL01643:Ccser1	APN	6	61,288,839 (GRCm39)	missense	probably benign	0.01
IGL01767:Ccser1	APN	6	61,695,136 (GRCm39)	missense	probably benign	0.03
IGL02081:Ccser1	APN	6	61,288,152 (GRCm39)	nonsense	probably null
IGL02152:Ccser1	APN	6	61,288,692 (GRCm39)	missense	possibly damaging	0.57
IGL02870:Ccser1	APN	6	61,288,276 (GRCm39)	missense	probably damaging	0.99
IGL02890:Ccser1	APN	6	62,356,815 (GRCm39)	missense	probably damaging	0.99
IGL03147:Ccser1	UTSW	6	61,289,144 (GRCm39)	missense	probably benign	0.02
R0020:Ccser1	UTSW	6	61,290,788 (GRCm39)	missense	possibly damaging	0.62
R0831:Ccser1	UTSW	6	61,400,045 (GRCm39)	missense	probably damaging	0.99
R1306:Ccser1	UTSW	6	62,357,090 (GRCm39)	missense	probably damaging	0.99
R1441:Ccser1	UTSW	6	62,357,016 (GRCm39)	missense	probably benign	0.00
R1650:Ccser1	UTSW	6	61,615,474 (GRCm39)	missense	probably benign	0.01
R1653:Ccser1	UTSW	6	61,288,449 (GRCm39)	missense	probably benign	0.00
R1913:Ccser1	UTSW	6	62,356,878 (GRCm39)	missense	probably damaging	0.99
R1961:Ccser1	UTSW	6	61,290,630 (GRCm39)	splice site	probably benign
R2030:Ccser1	UTSW	6	61,288,547 (GRCm39)	missense	probably benign
R2056:Ccser1	UTSW	6	61,399,936 (GRCm39)	splice site	probably null
R2268:Ccser1	UTSW	6	61,547,827 (GRCm39)	missense	probably damaging	1.00
R2280:Ccser1	UTSW	6	61,547,799 (GRCm39)	missense	probably damaging	1.00
R2281:Ccser1	UTSW	6	61,547,799 (GRCm39)	missense	probably damaging	1.00
R2571:Ccser1	UTSW	6	61,399,944 (GRCm39)	missense	probably damaging	1.00
R4606:Ccser1	UTSW	6	61,288,568 (GRCm39)	missense	probably damaging	0.99
R4711:Ccser1	UTSW	6	61,288,910 (GRCm39)	missense	possibly damaging	0.74
R4770:Ccser1	UTSW	6	61,288,485 (GRCm39)	missense	possibly damaging	0.85
R4932:Ccser1	UTSW	6	61,695,175 (GRCm39)	missense	possibly damaging	0.78
R5078:Ccser1	UTSW	6	61,288,350 (GRCm39)	missense	probably damaging	0.97
R5097:Ccser1	UTSW	6	61,289,144 (GRCm39)	missense	probably benign	0.02
R5221:Ccser1	UTSW	6	61,289,075 (GRCm39)	missense	probably damaging	0.99
R5378:Ccser1	UTSW	6	61,288,650 (GRCm39)	missense	probably benign	0.00
R5604:Ccser1	UTSW	6	61,290,788 (GRCm39)	missense	probably damaging	0.97
R5700:Ccser1	UTSW	6	61,288,260 (GRCm39)	missense	probably benign	0.00
R5970:Ccser1	UTSW	6	61,288,226 (GRCm39)	missense	possibly damaging	0.94
R6257:Ccser1	UTSW	6	62,356,769 (GRCm39)	missense	probably benign
R6257:Ccser1	UTSW	6	61,350,946 (GRCm39)	missense	probably damaging	0.96
R6375:Ccser1	UTSW	6	61,288,152 (GRCm39)	nonsense	probably null
R6703:Ccser1	UTSW	6	61,615,495 (GRCm39)	nonsense	probably null
R6930:Ccser1	UTSW	6	62,357,009 (GRCm39)	missense	probably benign	0.03
R7256:Ccser1	UTSW	6	61,288,851 (GRCm39)	missense	probably benign	0.38
R7362:Ccser1	UTSW	6	61,787,864 (GRCm39)	missense	unknown
R7508:Ccser1	UTSW	6	61,547,707 (GRCm39)	missense	probably benign	0.05
R7532:Ccser1	UTSW	6	62,356,915 (GRCm39)	nonsense	probably null
R7533:Ccser1	UTSW	6	61,615,474 (GRCm39)	missense	probably benign	0.25
R7729:Ccser1	UTSW	6	61,288,840 (GRCm39)	missense	probably benign
R7875:Ccser1	UTSW	6	61,288,932 (GRCm39)	missense	probably benign	0.06
R8055:Ccser1	UTSW	6	61,290,757 (GRCm39)	missense	possibly damaging	0.47
R8396:Ccser1	UTSW	6	61,289,088 (GRCm39)	missense	probably benign	0.09
R8724:Ccser1	UTSW	6	61,288,199 (GRCm39)	missense	probably damaging	0.99
R8849:Ccser1	UTSW	6	61,288,537 (GRCm39)	missense	probably benign	0.00
R8906:Ccser1	UTSW	6	61,787,842 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCTTGGACTGGTAGAATTAGAAGTC -3'
(R):5'- CTGCATGGCATTGGTACAGAG -3'

Sequencing Primer
(F):5'- TTAGAAGTCACAAGGGTCCGTCTC -3'
(R):5'- CATGGCATTGGTACAGAGACAGAC -3'

Posted On

2021-11-19