Mutagenetix > Incidental Mutation

Incidental Mutation 'R5846:C1s1'

453614

Institutional Source

Beutler Lab

Gene Symbol

C1s1

Ensembl Gene

ENSMUSG00000038521

Gene Name

complement component 1, s subcomponent 1

Synonyms

C1s

MMRRC Submission

044064-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R5846 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124507304-124519318 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 124517912 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 23 (P23S)

Ref Sequence

ENSEMBL: ENSMUSP00000124109 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159463] [ENSMUST00000160505] [ENSMUST00000162443] [ENSMUST00000162844]

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159143

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159463
AA Change: P23S

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125439
Gene: ENSMUSG00000038521
AA Change: P23S

Domain	Start	End	E-Value	Type
CUB	15	136	1.08e-29	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160505
AA Change: P23S

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125531
Gene: ENSMUSG00000038521
AA Change: P23S

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

possibly damaging
Transcript: ENSMUST00000162443
AA Change: P23S

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125712
Gene: ENSMUSG00000038521
AA Change: P23S

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

possibly damaging
Transcript: ENSMUST00000162844
AA Change: P23S

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

Meta Mutation Damage Score

0.1579

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.4%

Validation Efficiency

97% (67/69)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	C	2: 68,562,377 (GRCm39)	S335P	unknown	Het
Ace3	A	T	11: 105,889,188 (GRCm39)	I473F	probably benign	Het
Adcy2	T	A	13: 68,886,707 (GRCm39)	N281Y	probably damaging	Het
Adgra1	T	A	7: 139,455,196 (GRCm39)	W275R	probably damaging	Het
Apmap	T	C	2: 150,450,341 (GRCm39)	D20G	probably damaging	Het
Arap2	T	C	5: 62,807,116 (GRCm39)	T1184A	probably damaging	Het
Atp13a2	T	C	4: 140,722,907 (GRCm39)	V303A	possibly damaging	Het
BC004004	A	T	17: 29,501,282 (GRCm39)		probably benign	Het
C1s2	T	A	6: 124,608,123 (GRCm39)	N197Y	probably damaging	Het
Camsap3	A	G	8: 3,653,980 (GRCm39)	H539R	probably damaging	Het
Catsperb	A	T	12: 101,569,025 (GRCm39)	N899I	probably damaging	Het
Cct4	T	C	11: 22,951,354 (GRCm39)		probably benign	Het
Chrm2	A	T	6: 36,500,385 (GRCm39)	T81S	probably damaging	Het
Dnaaf3	A	T	7: 4,526,686 (GRCm39)	S464T	possibly damaging	Het
Dnah10	T	A	5: 124,900,437 (GRCm39)	I3898N	possibly damaging	Het
Dnah3	TTCCTC	TTC	7: 119,550,244 (GRCm39)		probably benign	Het
Dnajc13	T	C	9: 104,067,584 (GRCm39)	K1187E	probably damaging	Het
Dock4	A	T	12: 40,867,735 (GRCm39)	D1437V	probably damaging	Het
Dst	C	T	1: 34,234,942 (GRCm39)	Q3674*	probably null	Het
Eef1a2	T	C	2: 180,794,776 (GRCm39)	Y141C	probably damaging	Het
Fads3	G	T	19: 10,030,397 (GRCm39)	Q178H	probably null	Het
Fbxw22	T	A	9: 109,215,829 (GRCm39)	M140L	probably benign	Het
Fndc7	A	G	3: 108,788,707 (GRCm39)	I178T	probably damaging	Het
Foxd1	T	C	13: 98,491,549 (GRCm39)	M141T	probably damaging	Het
H4c2	T	C	13: 23,941,215 (GRCm39)	V71A	possibly damaging	Het
Havcr2	T	C	11: 46,360,343 (GRCm39)	I141T	probably benign	Het
Hectd1	A	C	12: 51,820,618 (GRCm39)	N1190K	probably damaging	Het
Hook3	T	A	8: 26,534,355 (GRCm39)		probably benign	Het
Hpgd	T	A	8: 56,760,702 (GRCm39)	I133N	possibly damaging	Het
Itih2	T	C	2: 10,102,714 (GRCm39)	R807G	probably benign	Het
Klhl35	G	A	7: 99,122,094 (GRCm39)	G65D	probably damaging	Het
Lrch4	C	G	5: 137,631,919 (GRCm39)	C48W	probably damaging	Het
Mafa	A	G	15: 75,619,627 (GRCm39)	S49P	probably benign	Het
Magi1	A	G	6: 93,662,584 (GRCm39)	V1170A	probably damaging	Het
Mprip	A	T	11: 59,649,380 (GRCm39)	K1028M	probably damaging	Het
Mtpn	C	T	6: 35,489,225 (GRCm39)	D100N	probably benign	Het
Numb	G	T	12: 83,923,521 (GRCm39)		probably benign	Het
Obscn	A	G	11: 58,929,435 (GRCm39)	L6063P	probably damaging	Het
Or2y6	A	G	11: 52,103,881 (GRCm39)	*312Q	probably null	Het
Or6c6c	A	T	10: 129,540,756 (GRCm39)	N3I	probably damaging	Het
P3h3	A	T	6: 124,834,157 (GRCm39)		probably null	Het
Pi4k2a	A	G	19: 42,103,477 (GRCm39)	D329G	probably benign	Het
Ptch1	T	C	13: 63,713,268 (GRCm39)		probably benign	Het
Samd9l	A	G	6: 3,376,754 (GRCm39)	V169A	probably benign	Het
Sdk1	T	C	5: 142,100,148 (GRCm39)	Y1393H	probably damaging	Het
Slc18a3	T	A	14: 32,185,880 (GRCm39)	M168L	probably benign	Het
Smurf1	T	C	5: 144,816,190 (GRCm39)	T722A	probably damaging	Het
Ssr2	C	T	3: 88,488,379 (GRCm39)	P85L	probably damaging	Het
Syne2	G	T	12: 76,074,898 (GRCm39)	A4614S	probably benign	Het
Tgfbr3	C	A	5: 107,288,521 (GRCm39)	G380V	possibly damaging	Het
Tk1	G	T	11: 117,706,748 (GRCm39)		probably benign	Het
Tmem245	A	T	4: 56,903,241 (GRCm39)	S610T	probably benign	Het
Tmtc2	A	G	10: 105,107,302 (GRCm39)		probably benign	Het
Trim30b	A	G	7: 104,006,578 (GRCm39)	Y93H	possibly damaging	Het
Tsks	A	G	7: 44,593,412 (GRCm39)	D126G	probably damaging	Het
Ttn	T	A	2: 76,733,812 (GRCm39)		probably benign	Het
Usp15	A	G	10: 123,017,647 (GRCm39)	W50R	probably damaging	Het
Vmn2r55	A	T	7: 12,404,492 (GRCm39)	F304I	probably benign	Het
Xirp2	T	A	2: 67,339,587 (GRCm39)	D609E	probably damaging	Het
Zan	C	T	5: 137,392,638 (GRCm39)		probably null	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
R1396:C1s1	UTSW	6	124,508,010 (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
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'- AGGACGGCTTGACAACACAC -3'
(R):5'- AGAGCTCAGATATGAACCTTGAC -3'

Sequencing Primer
(F):5'- TCCTGTGCTGTAATATACCTGC -3'
(R):5'- TAACGGTCAGAGTTCTGC -3'

Posted On

2017-02-10