Mutagenetix > Incidental Mutation

Incidental Mutation 'R8849:C1s2'

674882

Institutional Source

Beutler Lab

Gene Symbol

C1s2

Ensembl Gene

ENSMUSG00000079343

Gene Name

complement component 1, s subcomponent 2

Synonyms

Gm5077

MMRRC Submission

068672-MU

Accession Numbers

Essential gene?

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

Stock #

R8849 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124601584-124613044 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124602754 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 486 (N486D)

Ref Sequence

ENSEMBL: ENSMUSP00000151642 (fasta)

Gene Model

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

AlphaFold

Q8CFG8

Predicted Effect

probably benign
Transcript: ENSMUST00000068797
AA Change: N480D

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000066999
Gene: ENSMUSG00000079343
AA Change: N480D

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

probably benign
Transcript: ENSMUST00000218020
AA Change: N486D

PolyPhen 2 Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)

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: 14,439,376 (GRCm39)		probably null	Het
Adgrv1	T	C	13: 81,669,324 (GRCm39)	T2411A	probably benign	Het
Aldh5a1	T	A	13: 25,121,464 (GRCm39)	T30S	probably benign	Het
Alg1	G	A	16: 5,051,532 (GRCm39)	A7T	possibly damaging	Het
Ano10	T	A	9: 122,090,510 (GRCm39)	M268L	probably benign	Het
Avil	T	C	10: 126,844,661 (GRCm39)	V264A	possibly damaging	Het
Bicc1	T	A	10: 70,782,694 (GRCm39)	I558F	probably benign	Het
Bst1	A	T	5: 43,977,927 (GRCm39)	H92L	possibly damaging	Het
Carmil3	A	T	14: 55,734,627 (GRCm39)	H452L	probably benign	Het
Ccser1	T	A	6: 61,288,537 (GRCm39)	D233E	probably benign	Het
Ceacam18	G	T	7: 43,294,967 (GRCm39)	L342F	probably benign	Het
Cep95	T	A	11: 106,707,630 (GRCm39)	M691K		Het
Cfap221	G	A	1: 119,922,874 (GRCm39)	P23S	probably damaging	Het
Ciao2b	C	T	8: 105,367,599 (GRCm39)		probably null	Het
Col20a1	T	C	2: 180,640,432 (GRCm39)	Y572H	probably damaging	Het
Cr2	C	T	1: 194,839,547 (GRCm39)	V627M	probably damaging	Het
Cul2	T	A	18: 3,423,551 (GRCm39)	H320Q	probably benign	Het
Ddx5	A	T	11: 106,675,975 (GRCm39)	V266E	probably damaging	Het
Dgkd	T	C	1: 87,846,365 (GRCm39)	V336A	probably damaging	Het
Dnah6	T	C	6: 73,121,156 (GRCm39)		probably null	Het
Dnhd1	C	A	7: 105,370,723 (GRCm39)	Q4668K	probably benign	Het
Dock7	C	T	4: 98,904,986 (GRCm39)	E630K		Het
Dolk	T	C	2: 30,174,935 (GRCm39)	E370G	probably damaging	Het
Ercc6	T	A	14: 32,291,565 (GRCm39)	L1003Q	probably damaging	Het
Foxc1	T	C	13: 31,992,817 (GRCm39)	S543P	unknown	Het
Gbp2b	A	C	3: 142,313,913 (GRCm39)	M398L	probably benign	Het
Gigyf2	G	T	1: 87,361,592 (GRCm39)	R908L	unknown	Het
Gpr176	T	A	2: 118,110,095 (GRCm39)	E388V	probably damaging	Het
Gpx8	C	T	13: 113,179,704 (GRCm39)	G199E	probably benign	Het
Gtf2a1l	A	G	17: 89,001,566 (GRCm39)	T141A	possibly damaging	Het
Ifi208	G	A	1: 173,506,184 (GRCm39)		probably benign	Het
Itgad	T	A	7: 127,789,157 (GRCm39)		probably benign	Het
Kif20b	C	T	19: 34,915,716 (GRCm39)	Q498*	probably null	Het
Lmo7	T	C	14: 102,163,543 (GRCm39)	Y1463H	unknown	Het
Mms19	A	T	19: 41,952,767 (GRCm39)	L114Q	probably damaging	Het
Mogs	T	C	6: 83,094,986 (GRCm39)	V601A	possibly damaging	Het
Mybpc1	T	A	10: 88,407,447 (GRCm39)	M87L	probably benign	Het
Nhlrc2	T	C	19: 56,580,184 (GRCm39)	V439A	possibly damaging	Het
Npc1l1	T	A	11: 6,179,038 (GRCm39)	H124L	probably damaging	Het
Opn4	A	G	14: 34,318,986 (GRCm39)	W200R	probably damaging	Het
Or2b2b	T	C	13: 21,858,226 (GRCm39)	E296G	possibly damaging	Het
Pax2	T	C	19: 44,749,111 (GRCm39)		probably benign	Het
Phf20	G	T	2: 156,118,440 (GRCm39)	Q381H	probably damaging	Het
Pramel25	A	G	4: 143,521,596 (GRCm39)	N404S	probably damaging	Het
Pramel32	T	A	4: 88,546,014 (GRCm39)	T443S	probably benign	Het
Pramel34	A	T	5: 93,784,197 (GRCm39)	H422Q	probably benign	Het
Rb1	C	T	14: 73,434,709 (GRCm39)	R903Q	probably damaging	Het
Scamp4	T	A	10: 80,445,266 (GRCm39)	V37E	probably damaging	Het
Sema3e	T	C	5: 14,302,673 (GRCm39)	W733R	probably damaging	Het
Sertm1	A	G	3: 54,806,749 (GRCm39)	V92A	possibly damaging	Het
Slc4a5	T	C	6: 83,250,180 (GRCm39)	F638L	probably damaging	Het
Tprn	T	C	2: 25,159,171 (GRCm39)	S703P	probably damaging	Het
Tulp4	T	A	17: 6,272,656 (GRCm39)	M570K	probably benign	Het
Zfp433	T	C	10: 81,556,875 (GRCm39)	I459T	probably benign	Het
Zfp697	A	G	3: 98,334,943 (GRCm39)	E236G	probably benign	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
R7886:C1s2	UTSW	6	124,605,289 (GRCm39)	missense	possibly damaging	0.95
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'- TTCACAGGGTCTTTCAGCTG -3'
(R):5'- TTCAGAGGTCAACATCATTCGATC -3'

Sequencing Primer
(F):5'- GGACCAGGGCAATGTCATTGTC -3'
(R):5'- TTAATCACCCCACAGCTG -3'

Posted On

2021-07-15