Mutagenetix > Incidental Mutation

Incidental Mutation 'R7886:C1s2'

609057

Institutional Source

Beutler Lab

Gene Symbol

C1s2

Ensembl Gene

ENSMUSG00000079343

Gene Name

complement component 1, s subcomponent 2

Synonyms

Gm5077

MMRRC Submission

045938-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

R7886 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

124601584-124613044 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124605289 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 349 (S349G)

Ref Sequence

ENSEMBL: ENSMUSP00000151642 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068797] [ENSMUST00000218020]

AlphaFold

Q8CFG8

Predicted Effect

probably damaging
Transcript: ENSMUST00000068797
AA Change: S343G

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000066999
Gene: ENSMUSG00000079343
AA Change: S343G

Domain	Start	End	E-Value	Type
CUB	15	136	1.31e-28	SMART
EGF_CA	137	178	3.35e-7	SMART
CUB	181	296	1.45e-30	SMART
CCP	300	360	3.27e-6	SMART
CCP	365	427	9.54e-8	SMART
Tryp_SPc	443	681	8.92e-72	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000218020
AA Change: S349G

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	T	G	6: 92,811,437 (GRCm39)	I130S	unknown	Het
Ano5	A	G	7: 51,220,141 (GRCm39)	H427R	probably benign	Het
Atad2	A	T	15: 57,989,532 (GRCm39)	V182E	probably damaging	Het
B4galnt1	T	C	10: 127,002,923 (GRCm39)	Y147H	probably damaging	Het
Ccdc51	G	T	9: 108,920,655 (GRCm39)	A181S	probably damaging	Het
Dcc	G	A	18: 72,087,939 (GRCm39)	Q100*	probably null	Het
Dchs2	A	T	3: 83,212,392 (GRCm39)	I2064F	probably damaging	Het
Depdc1a	G	A	3: 159,221,706 (GRCm39)	V217I	probably benign	Het
Dnajc7	A	T	11: 100,492,629 (GRCm39)	F31I	probably benign	Het
Eftud2	C	T	11: 102,730,934 (GRCm39)	R825H	probably damaging	Het
Fam184a	T	C	10: 53,551,256 (GRCm39)	E237G	probably damaging	Het
Fdx2	A	T	9: 20,984,623 (GRCm39)		probably null	Het
Frem1	T	C	4: 82,934,643 (GRCm39)	D106G	possibly damaging	Het
Gabrg3	G	A	7: 56,374,229 (GRCm39)	R446W	probably damaging	Het
Get1	T	A	16: 95,946,768 (GRCm39)	L31Q	possibly damaging	Het
Gm42669	A	G	5: 107,656,572 (GRCm39)	E362G		Het
Hmcn1	A	T	1: 150,533,221 (GRCm39)	I3022N	possibly damaging	Het
Ifna2	C	A	4: 88,601,506 (GRCm39)	V171F	probably damaging	Het
Igsf10	T	C	3: 59,235,748 (GRCm39)	N1478D	probably benign	Het
Kcnc1	C	A	7: 46,077,045 (GRCm39)	D282E	probably damaging	Het
Klhdc2	G	A	12: 69,351,406 (GRCm39)		probably null	Het
Macrod2	G	A	2: 141,566,565 (GRCm39)	G188S	probably damaging	Het
Mapkbp1	T	C	2: 119,843,128 (GRCm39)	F186L	possibly damaging	Het
Mettl21a	T	C	1: 64,654,343 (GRCm39)	E58G	probably damaging	Het
Muc16	A	T	9: 18,497,278 (GRCm39)	C6625S	probably benign	Het
Naip5	A	T	13: 100,382,689 (GRCm39)	S7T	probably benign	Het
Nfs1	T	A	2: 155,983,981 (GRCm39)	D132V	unknown	Het
Nlgn1	T	C	3: 25,490,071 (GRCm39)	D552G	probably damaging	Het
Numa1	C	T	7: 101,663,072 (GRCm39)	T2066I	probably benign	Het
Or10k2	T	C	8: 84,268,576 (GRCm39)	S268P	possibly damaging	Het
Or2t48	C	A	11: 58,419,880 (GRCm39)	V311L	probably benign	Het
Or4k2	A	T	14: 50,424,021 (GRCm39)	Y219N	probably damaging	Het
Or7a39	A	G	10: 78,715,657 (GRCm39)	Y217C	possibly damaging	Het
Or7g29	A	T	9: 19,287,202 (GRCm39)		probably null	Het
Pde11a	C	T	2: 76,121,547 (GRCm39)	V345I	probably benign	Het
Pglyrp2	A	G	17: 32,637,735 (GRCm39)	S98P	possibly damaging	Het
Pik3c3	C	T	18: 30,452,641 (GRCm39)	Q643*	probably null	Het
Pold2	T	C	11: 5,822,714 (GRCm39)	Y402C	probably damaging	Het
Pom121	T	C	5: 135,410,848 (GRCm39)	T770A	unknown	Het
Pou4f1	A	T	14: 104,704,228 (GRCm39)	V68E	probably damaging	Het
Ppfia1	G	T	7: 144,073,020 (GRCm39)	Q265K	probably benign	Het
Pygl	A	G	12: 70,253,130 (GRCm39)		probably null	Het
Rdh19	A	G	10: 127,686,169 (GRCm39)	T94A	probably benign	Het
Scgb1b12	A	G	7: 32,033,922 (GRCm39)	T61A	probably damaging	Het
Sirpb1c	C	T	3: 15,886,366 (GRCm39)	A337T	probably benign	Het
Sltm	C	G	9: 70,493,955 (GRCm39)	P802R	possibly damaging	Het
Tbc1d23	T	C	16: 57,009,746 (GRCm39)	E381G	possibly damaging	Het
Tnik	A	G	3: 28,720,288 (GRCm39)	I1304V	probably damaging	Het
Tpmt	C	A	13: 47,193,638 (GRCm39)	G54C	probably damaging	Het
Usp25	A	T	16: 76,910,659 (GRCm39)	Q905L	probably damaging	Het
Vmn1r91	T	A	7: 19,835,490 (GRCm39)	N136K	probably benign	Het
Wdr70	C	T	15: 8,108,733 (GRCm39)	E138K	probably benign	Het
Zbed3	A	G	13: 95,472,633 (GRCm39)	D19G	possibly damaging	Het
Zfp369	A	G	13: 65,439,868 (GRCm39)	K184R	possibly damaging	Het

Other mutations in C1s2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01503:C1s2	APN	6	124,602,612 (GRCm39)	missense	probably damaging	0.99
IGL02112:C1s2	APN	6	124,602,267 (GRCm39)	missense	probably benign	0.28
IGL02342:C1s2	APN	6	124,609,075 (GRCm39)	missense	probably damaging	0.98
R0616:C1s2	UTSW	6	124,605,723 (GRCm39)	missense	probably damaging	1.00
R0621:C1s2	UTSW	6	124,608,071 (GRCm39)	missense	probably damaging	1.00
R1439:C1s2	UTSW	6	124,607,126 (GRCm39)	splice site	probably benign
R1451:C1s2	UTSW	6	124,602,453 (GRCm39)	missense	probably benign	0.06
R1484:C1s2	UTSW	6	124,602,604 (GRCm39)	missense	possibly damaging	0.95
R1570:C1s2	UTSW	6	124,602,723 (GRCm39)	missense	probably benign	0.01
R1824:C1s2	UTSW	6	124,612,641 (GRCm39)	missense	probably benign	0.03
R2009:C1s2	UTSW	6	124,612,048 (GRCm39)	missense	probably damaging	1.00
R2109:C1s2	UTSW	6	124,612,004 (GRCm39)	missense	probably damaging	0.96
R2197:C1s2	UTSW	6	124,609,069 (GRCm39)	missense	probably damaging	1.00
R4421:C1s2	UTSW	6	124,602,174 (GRCm39)	missense	probably benign	0.39
R4573:C1s2	UTSW	6	124,605,202 (GRCm39)	splice site	probably null
R4906:C1s2	UTSW	6	124,612,073 (GRCm39)	nonsense	probably null
R4923:C1s2	UTSW	6	124,602,649 (GRCm39)	missense	probably benign	0.00
R4977:C1s2	UTSW	6	124,612,598 (GRCm39)	missense	probably damaging	0.96
R5030:C1s2	UTSW	6	124,612,547 (GRCm39)	missense	possibly damaging	0.77
R5690:C1s2	UTSW	6	124,607,996 (GRCm39)	missense	probably benign	0.13
R5708:C1s2	UTSW	6	124,602,702 (GRCm39)	nonsense	probably null
R5846:C1s2	UTSW	6	124,608,123 (GRCm39)	missense	probably damaging	1.00
R6176:C1s2	UTSW	6	124,602,768 (GRCm39)	missense	probably damaging	1.00
R6177:C1s2	UTSW	6	124,606,960 (GRCm39)	missense	probably damaging	0.96
R6842:C1s2	UTSW	6	124,604,461 (GRCm39)	missense	probably benign	0.12
R7291:C1s2	UTSW	6	124,602,343 (GRCm39)	missense	probably benign	0.16
R7590:C1s2	UTSW	6	124,609,087 (GRCm39)	missense	probably damaging	1.00
R7721:C1s2	UTSW	6	124,607,017 (GRCm39)	missense	possibly damaging	0.73
R7864:C1s2	UTSW	6	124,602,246 (GRCm39)	missense	probably benign	0.18
R8849:C1s2	UTSW	6	124,602,754 (GRCm39)	missense	probably benign	0.31
R9135:C1s2	UTSW	6	124,602,642 (GRCm39)	missense	probably benign
R9366:C1s2	UTSW	6	124,602,694 (GRCm39)	missense	probably benign	0.05
R9407:C1s2	UTSW	6	124,602,454 (GRCm39)	missense	probably benign	0.00
R9550:C1s2	UTSW	6	124,605,253 (GRCm39)	nonsense	probably null
R9614:C1s2	UTSW	6	124,602,588 (GRCm39)	missense	probably damaging	1.00
R9751:C1s2	UTSW	6	124,602,553 (GRCm39)	missense	probably damaging	1.00
X0062:C1s2	UTSW	6	124,612,049 (GRCm39)	missense	probably damaging	1.00
Z1177:C1s2	UTSW	6	124,602,693 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- AGGGCTTGACAATTCTCTATAACAG -3'
(R):5'- AGTTGTCTTCTCATCGCAGC -3'

Sequencing Primer
(F):5'- ATAACAGACTCATTCAAAAATGCAAG -3'
(R):5'- ATCGCAGCTCCTGGGTACATTG -3'

Posted On

2019-12-20