Mutagenetix > Incidental Mutation

Incidental Mutation 'R5687:C1s1'

443425

Institutional Source

Beutler Lab

Gene Symbol

C1s1

Ensembl Gene

ENSMUSG00000038521

Gene Name

complement component 1, s subcomponent 1

Synonyms

C1s

MMRRC Submission

043320-MU

Accession Numbers

Essential gene?

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

Stock #

R5687 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124507304-124519318 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 124517909 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 24 (T24S)

Ref Sequence

ENSEMBL: ENSMUSP00000125712 (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

probably benign
Transcript: ENSMUST00000159463
AA Change: T24S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000125439
Gene: ENSMUSG00000038521
AA Change: T24S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000160505
AA Change: T24S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000125531
Gene: ENSMUSG00000038521
AA Change: T24S

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 benign
Transcript: ENSMUST00000162443
AA Change: T24S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000125712
Gene: ENSMUSG00000038521
AA Change: T24S

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

unknown
Transcript: ENSMUST00000162844
AA Change: T24S

Meta Mutation Damage Score

0.0623

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 95.6%

Validation Efficiency

99% (72/73)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	T	A	15: 94,223,852 (GRCm39)	D1292V	probably benign	Het
Adcy2	A	T	13: 68,768,938 (GRCm39)	C1063*	probably null	Het
Adcy2	A	T	13: 68,790,688 (GRCm39)	V892D	probably damaging	Het
Agtpbp1	T	C	13: 59,648,329 (GRCm39)	D497G	probably benign	Het
Anks1b	A	C	10: 90,750,573 (GRCm39)	I195L	probably benign	Het
Asmt	G	T	X: 169,111,749 (GRCm39)	S377I	unknown	Het
Ccdc85a	A	T	11: 28,342,854 (GRCm39)		probably benign	Het
Ccndbp1	T	C	2: 120,845,183 (GRCm39)		probably benign	Het
Cct8	T	C	16: 87,285,709 (GRCm39)	I250V	probably benign	Het
Cmya5	T	C	13: 93,234,684 (GRCm39)	T135A	possibly damaging	Het
Col11a1	T	C	3: 114,010,752 (GRCm39)		probably benign	Het
Crybg3	A	G	16: 59,379,529 (GRCm39)	M575T	probably benign	Het
Dmp1	C	T	5: 104,354,952 (GRCm39)		probably benign	Het
Emc1	G	T	4: 139,102,691 (GRCm39)	R950L	probably damaging	Het
Enpep	T	C	3: 129,092,743 (GRCm39)		probably null	Het
Eya1	G	A	1: 14,253,476 (GRCm39)	T500I	probably damaging	Het
Fam169a	T	C	13: 97,230,126 (GRCm39)	F54L	probably damaging	Het
Fbxo8	A	G	8: 57,044,552 (GRCm39)	K285R	probably damaging	Het
Galnt1	A	T	18: 24,405,807 (GRCm39)	E416D	probably benign	Het
Gcc1	T	A	6: 28,419,232 (GRCm39)		probably null	Het
Gm10800	T	A	2: 98,496,965 (GRCm39)	Y196F	probably benign	Het
Gmpr	T	A	13: 45,692,496 (GRCm39)		probably null	Het
Jrkl	C	T	9: 13,244,387 (GRCm39)	E425K	probably benign	Het
Kl	T	G	5: 150,911,931 (GRCm39)	I560S	possibly damaging	Het
Kyat3	C	A	3: 142,440,343 (GRCm39)	R356S	probably null	Het
Lrig2	C	T	3: 104,371,388 (GRCm39)		probably null	Het
Lrrc47	A	G	4: 154,100,140 (GRCm39)	T239A	probably benign	Het
Map4k2	T	C	19: 6,395,672 (GRCm39)		probably benign	Het
Mon2	A	G	10: 122,844,144 (GRCm39)	S1469P	probably damaging	Het
Mthfd1l	G	A	10: 3,940,002 (GRCm39)		probably null	Het
Mvk	G	T	5: 114,588,826 (GRCm39)	G144V	probably damaging	Het
Nasp	T	A	4: 116,463,002 (GRCm39)		probably benign	Het
Ndst4	A	C	3: 125,232,258 (GRCm39)	N276H	possibly damaging	Het
Nsmf	C	T	2: 24,946,079 (GRCm39)	P189S	probably damaging	Het
Nt5m	T	G	11: 59,743,649 (GRCm39)	D92E	probably benign	Het
Or10g6	T	G	9: 39,933,731 (GRCm39)	L14R	probably damaging	Het
Or4k39	T	C	2: 111,239,033 (GRCm39)		noncoding transcript	Het
Or4p23	A	T	2: 88,577,094 (GRCm39)	I46N	probably damaging	Het
Pan3	T	A	5: 147,391,982 (GRCm39)	I119N	probably damaging	Het
Pard6b	A	T	2: 167,940,546 (GRCm39)	S178C	probably damaging	Het
Parl	A	G	16: 20,106,728 (GRCm39)		probably benign	Het
Pdk2	A	G	11: 94,919,851 (GRCm39)		probably benign	Het
Prag1	A	G	8: 36,613,967 (GRCm39)	E1173G	probably benign	Het
Prph2	T	A	17: 47,234,391 (GRCm39)	L320Q	probably damaging	Het
Psmd3	T	C	11: 98,584,495 (GRCm39)	I200T	probably damaging	Het
Rhbdd3	T	A	11: 5,055,707 (GRCm39)	S324T	probably damaging	Het
Rps6-ps2	A	T	8: 89,533,112 (GRCm39)		noncoding transcript	Het
Rps8	G	C	4: 117,012,352 (GRCm39)		probably benign	Het
Samd4	A	G	14: 47,254,022 (GRCm39)	N61S	probably benign	Het
Sfrp2	G	A	3: 83,674,146 (GRCm39)	A100T	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc6a13	A	G	6: 121,279,700 (GRCm39)	T25A	probably benign	Het
Sntg1	C	A	1: 8,533,667 (GRCm39)	R329L	possibly damaging	Het
Sorbs2	T	C	8: 46,228,669 (GRCm39)	F285L	probably damaging	Het
Speg	T	C	1: 75,395,773 (GRCm39)		probably null	Het
Srgap1	T	C	10: 121,661,541 (GRCm39)	Y533C	probably damaging	Het
Supt5	C	A	7: 28,017,188 (GRCm39)	S668I	probably benign	Het
Taf6l	T	G	19: 8,750,676 (GRCm39)	I133L	probably benign	Het
Thrap3	G	A	4: 126,074,279 (GRCm39)		probably benign	Het
Tmem115	A	G	9: 107,412,054 (GRCm39)	N126S	probably benign	Het
Trgc1	A	T	13: 19,400,729 (GRCm39)	I153F	unknown	Het
Tspoap1	T	A	11: 87,667,952 (GRCm39)	I1192N	probably damaging	Het
Vcan	T	C	13: 89,826,253 (GRCm39)	I3184V	probably damaging	Het
Yeats4	G	A	10: 117,051,585 (GRCm39)	T224M	probably benign	Het
Zc3h13	A	T	14: 75,569,400 (GRCm39)	R1416*	probably null	Het
Zmynd12	T	A	4: 119,299,098 (GRCm39)	Y193N	probably 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
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
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'- GACGGCTTGACAACACACAG -3'
(R):5'- AAAGAGCTCAGATATGAACCTTGAC -3'

Sequencing Primer
(F):5'- CCTCCTGTGCTGTAATATACCTG -3'
(R):5'- TTCTGCATGAAGCCATCG -3'

Posted On

2016-11-09