Mutagenetix > Incidental Mutation

Incidental Mutation 'R1396:C1s1'

162640

Institutional Source

Beutler Lab

Gene Symbol

C1s1

Ensembl Gene

ENSMUSG00000038521

Gene Name

complement component 1, s subcomponent 1

Synonyms

C1s

MMRRC Submission

039458-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R1396 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

124507304-124519318 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124508010 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 660 (S660P)

Ref Sequence

ENSEMBL: ENSMUSP00000125712 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000160505] [ENSMUST00000162443]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000160505
AA Change: S660P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125531
Gene: ENSMUSG00000038521
AA Change: S660P

Domain	Start	End	E-Value	Type
CUB	15	136	1.08e-29	SMART
EGF_CA	137	178	1.79e-7	SMART
CUB	181	296	5.89e-31	SMART
CCP	300	360	3.22e-5	SMART
CCP	365	427	5.48e-8	SMART
Tryp_SPc	443	681	1.88e-70	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160967

Predicted Effect

probably damaging
Transcript: ENSMUST00000162443
AA Change: S660P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125712
Gene: ENSMUSG00000038521
AA Change: S660P

Domain	Start	End	E-Value	Type
CUB	15	136	1.08e-29	SMART
EGF_CA	137	178	1.79e-7	SMART
CUB	181	296	5.89e-31	SMART
CCP	300	360	3.22e-5	SMART
CCP	365	427	5.48e-8	SMART
Tryp_SPc	443	681	1.88e-70	SMART

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	G	A	13: 61,001,057 (GRCm39)	P160S	probably benign	Het
Adamts12	G	T	15: 11,311,558 (GRCm39)	D1272Y	probably benign	Het
Akr1c20	A	T	13: 4,557,726 (GRCm39)	V267D	probably damaging	Het
Ccdc202	A	G	14: 96,119,987 (GRCm39)	N248S	probably benign	Het
Ccdc40	A	G	11: 119,122,629 (GRCm39)	T144A	possibly damaging	Het
Cdk20	T	C	13: 64,585,217 (GRCm39)	I167T	probably damaging	Het
Chd6	A	G	2: 160,825,023 (GRCm39)	L1212S	probably damaging	Het
Clock	G	C	5: 76,414,649 (GRCm39)	D15E	probably benign	Het
Clstn2	A	G	9: 97,343,446 (GRCm39)	V667A	probably benign	Het
Cr2	A	T	1: 194,851,561 (GRCm39)		probably null	Het
Cyp2e1	A	G	7: 140,352,992 (GRCm39)	D343G	probably damaging	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Etf1	G	A	18: 35,041,220 (GRCm39)	T298I	possibly damaging	Het
Gm5431	T	C	11: 48,786,261 (GRCm39)		probably benign	Het
Gss	G	A	2: 155,409,641 (GRCm39)	T265I	probably damaging	Het
Heatr1	C	T	13: 12,420,927 (GRCm39)	S406L	possibly damaging	Het
Hgsnat	C	A	8: 26,447,363 (GRCm39)	M310I	possibly damaging	Het
Inpp5b	G	A	4: 124,682,873 (GRCm39)	R598H	probably damaging	Het
Ints2	G	T	11: 86,140,074 (GRCm39)	Q253K	probably damaging	Het
Kng1	A	G	16: 22,897,730 (GRCm39)	M377V	probably benign	Het
Krt72	C	T	15: 101,694,440 (GRCm39)		probably null	Het
Lemd2	G	C	17: 27,409,706 (GRCm39)	R482G	probably damaging	Het
Lrpprc	C	T	17: 85,033,731 (GRCm39)	D1049N	possibly damaging	Het
Lrrc49	A	T	9: 60,587,810 (GRCm39)	H117Q	probably damaging	Het
Mcm6	A	T	1: 128,279,213 (GRCm39)	F191Y	probably damaging	Het
Mecom	T	C	3: 30,033,949 (GRCm39)	T252A	possibly damaging	Het
Mgat4e	T	C	1: 134,469,271 (GRCm39)	T258A	probably benign	Het
Mpeg1	A	G	19: 12,440,168 (GRCm39)	N542S	probably damaging	Het
Nln	C	T	13: 104,198,261 (GRCm39)	V184I	probably benign	Het
Nova1	A	C	12: 46,863,676 (GRCm39)	F91L	unknown	Het
Polk	T	C	13: 96,620,716 (GRCm39)	I516V	probably benign	Het
Ppig	C	T	2: 69,579,362 (GRCm39)	P357S	unknown	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rasal2	A	T	1: 156,992,236 (GRCm39)	H552Q	probably damaging	Het
Rnf41	G	A	10: 128,271,440 (GRCm39)	E117K	probably benign	Het
Sbk3	A	G	7: 4,970,452 (GRCm39)	Y306H	possibly damaging	Het
Senp1	A	G	15: 97,974,435 (GRCm39)	S126P	probably benign	Het
Sfr1	A	G	19: 47,722,129 (GRCm39)	K182E	probably benign	Het
Slc25a4	C	A	8: 46,662,325 (GRCm39)	R111L	probably damaging	Het
Slc9c1	A	T	16: 45,393,710 (GRCm39)	Y551F	probably benign	Het
Stard4	A	T	18: 33,339,263 (GRCm39)	N80K	probably damaging	Het
Tbk1	G	A	10: 121,407,821 (GRCm39)	T104M	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tmem102	A	T	11: 69,695,196 (GRCm39)	W259R	probably damaging	Het
Tnk1	A	T	11: 69,743,962 (GRCm39)	C466S	probably benign	Het
Tspoap1	A	C	11: 87,656,946 (GRCm39)	Q307P	probably damaging	Het
Ugt2b35	A	G	5: 87,159,389 (GRCm39)	N528D	possibly damaging	Het
Usp6nl	A	G	2: 6,431,809 (GRCm39)		probably null	Het
Vmn1r203	C	T	13: 22,708,678 (GRCm39)	T153M	probably benign	Het
Vmn1r89	T	A	7: 12,953,938 (GRCm39)	S157T	probably damaging	Het
Vmn2r103	A	T	17: 20,013,230 (GRCm39)	Y117F	probably benign	Het
Vmn2r116	A	C	17: 23,605,115 (GRCm39)	M143L	probably benign	Het
Vmn2r62	A	T	7: 42,414,261 (GRCm39)	D727E	probably damaging	Het
Vps13c	A	G	9: 67,862,304 (GRCm39)	I2974V	probably benign	Het
Wrn	C	T	8: 33,758,847 (GRCm39)	G769D	probably damaging	Het
Zhx3	T	A	2: 160,622,940 (GRCm39)	H409L	possibly damaging	Het

Other mutations in C1s1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02225:C1s1	APN	6	124,518,293 (GRCm39)	missense	probably benign	0.02
IGL02590:C1s1	APN	6	124,508,235 (GRCm39)	missense	possibly damaging	0.89
IGL02968:C1s1	APN	6	124,517,310 (GRCm39)	missense	probably damaging	0.99
IGL03301:C1s1	APN	6	124,518,283 (GRCm39)	splice site	probably benign
BB008:C1s1	UTSW	6	124,510,359 (GRCm39)	missense	probably damaging	1.00
BB018:C1s1	UTSW	6	124,510,359 (GRCm39)	missense	probably damaging	1.00
R0105:C1s1	UTSW	6	124,518,277 (GRCm39)	splice site	probably benign
R0396:C1s1	UTSW	6	124,510,313 (GRCm39)	missense	probably benign	0.03
R0759:C1s1	UTSW	6	124,508,396 (GRCm39)	missense	probably damaging	1.00
R1145:C1s1	UTSW	6	124,517,759 (GRCm39)	missense	probably damaging	1.00
R1145:C1s1	UTSW	6	124,517,759 (GRCm39)	missense	probably damaging	1.00
R1466:C1s1	UTSW	6	124,508,090 (GRCm39)	missense	probably damaging	1.00
R1466:C1s1	UTSW	6	124,508,090 (GRCm39)	missense	probably damaging	1.00
R1627:C1s1	UTSW	6	124,514,439 (GRCm39)	missense	probably damaging	1.00
R1855:C1s1	UTSW	6	124,511,315 (GRCm39)	critical splice donor site	probably null
R2010:C1s1	UTSW	6	124,514,353 (GRCm39)	missense	probably damaging	1.00
R2349:C1s1	UTSW	6	124,518,432 (GRCm39)	start gained	probably benign
R4544:C1s1	UTSW	6	124,508,499 (GRCm39)	missense	probably benign	0.31
R4661:C1s1	UTSW	6	124,513,449 (GRCm39)	missense	probably benign	0.22
R5383:C1s1	UTSW	6	124,511,360 (GRCm39)	missense	probably damaging	1.00
R5687:C1s1	UTSW	6	124,517,909 (GRCm39)	missense	probably benign	0.01
R5846:C1s1	UTSW	6	124,517,912 (GRCm39)	missense	possibly damaging	0.93
R6289:C1s1	UTSW	6	124,508,135 (GRCm39)	missense	probably damaging	0.99
R6410:C1s1	UTSW	6	124,508,117 (GRCm39)	missense	probably damaging	1.00
R6983:C1s1	UTSW	6	124,517,855 (GRCm39)	missense	possibly damaging	0.93
R7931:C1s1	UTSW	6	124,510,359 (GRCm39)	missense	probably damaging	1.00
R8141:C1s1	UTSW	6	124,508,321 (GRCm39)	missense	probably damaging	1.00
R8341:C1s1	UTSW	6	124,508,115 (GRCm39)	missense	probably damaging	1.00
R8399:C1s1	UTSW	6	124,512,252 (GRCm39)	missense	probably benign	0.00
R8926:C1s1	UTSW	6	124,513,322 (GRCm39)	missense	possibly damaging	0.95
R8926:C1s1	UTSW	6	124,510,325 (GRCm39)	missense	probably damaging	1.00
R9008:C1s1	UTSW	6	124,509,499 (GRCm39)	critical splice donor site	probably null
R9147:C1s1	UTSW	6	124,517,758 (GRCm39)	missense	probably damaging	1.00
R9148:C1s1	UTSW	6	124,517,758 (GRCm39)	missense	probably damaging	1.00
R9153:C1s1	UTSW	6	124,517,906 (GRCm39)	missense	possibly damaging	0.78
R9177:C1s1	UTSW	6	124,508,362 (GRCm39)	missense	probably damaging	0.98
RF029:C1s1	UTSW	6	124,518,310 (GRCm39)	start codon destroyed	probably null

Predicted Primers

PCR Primer
(F):5'- ATCGTTGTGAAATAAGGGGACCACC -3'
(R):5'- GTTATCAACCTCAGAGGGGCAAAGG -3'

Sequencing Primer
(F):5'- CCACCATAGGATCTGAGAACAGTG -3'
(R):5'- CTCTTTAGAAACCTGCAAACAGGTG -3'

Posted On

2014-03-17