Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02342:C1s2'

289119

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

C1s2

Ensembl Gene

ENSMUSG00000079343

Gene Name

complement component 1, s subcomponent 2

Synonyms

Gm5077

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.165) question?

Stock #

IGL02342

Quality Score

Status

Chromosome

Chromosomal Location

124624625-124636085 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124632116 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 155 (F155L)

Ref Sequence

ENSEMBL: ENSMUSP00000066999 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000068797
AA Change: F155L

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000066999
Gene: ENSMUSG00000079343
AA Change: F155L

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

noncoding transcript
Transcript: ENSMUST00000204754
AA Change: F161L

SMART Domains

Protein: ENSMUSP00000145029
Gene: ENSMUSG00000107554
AA Change: F161L

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 damaging
Transcript: ENSMUST00000218020
AA Change: F161L

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030612E09Rik	C	A	10: 43,175,001	P97Q	probably damaging	Het
Abcb10	A	T	8: 123,962,034	V501E	probably damaging	Het
Acsf3	T	C	8: 122,817,498	Y572H	probably benign	Het
Adamts3	A	T	5: 89,691,473		probably null	Het
Alox8	A	G	11: 69,186,227	L480P	probably damaging	Het
Arhgap35	G	A	7: 16,562,380	T920I	probably benign	Het
Brca2	C	A	5: 150,542,824	L2018M	possibly damaging	Het
Brdt	C	A	5: 107,342,203	H45N	probably damaging	Het
Ccser2	A	G	14: 36,918,605		probably benign	Het
Cd8a	T	A	6: 71,373,739	C63S	probably damaging	Het
Clk2	A	T	3: 89,175,691	T424S	probably benign	Het
Cntn1	A	G	15: 92,246,017	E287G	probably benign	Het
Cobl	A	C	11: 12,253,672	V928G	possibly damaging	Het
Col12a1	A	G	9: 79,649,896		probably null	Het
Crnkl1	A	T	2: 145,924,713		probably null	Het
Defb26	T	C	2: 152,508,201	N53S	possibly damaging	Het
Duox1	A	T	2: 122,347,312	T1526S	probably damaging	Het
Dync2h1	A	G	9: 7,142,246	L1233P	probably damaging	Het
Eif5a2	A	G	3: 28,793,761	E116G	possibly damaging	Het
Fam208a	T	A	14: 27,476,667	S1319T	possibly damaging	Het
Fam71f1	A	G	6: 29,323,830	T185A	possibly damaging	Het
Gdap2	G	A	3: 100,178,316	A185T	probably damaging	Het
Grm8	T	C	6: 27,363,804	R571G	probably benign	Het
Hfe2	G	A	3: 96,528,172	D249N	possibly damaging	Het
Hsp90b1	T	C	10: 86,695,739		probably null	Het
Ighv1-75	T	G	12: 115,834,258		probably benign	Het
Ikzf1	A	G	11: 11,700,216		probably benign	Het
Kdm4d	A	G	9: 14,463,564	W333R	probably damaging	Het
Lama3	A	T	18: 12,491,476	N1426I	probably damaging	Het
Lmbrd1	A	G	1: 24,704,878	Y119C	probably damaging	Het
Mctp1	A	G	13: 77,024,857	Y884C	probably damaging	Het
Naip6	G	T	13: 100,303,240	P340T	possibly damaging	Het
Nfkbib	G	T	7: 28,762,103	H70N	probably damaging	Het
Nol4	A	T	18: 22,770,869		probably benign	Het
Obscn	C	T	11: 59,001,088	A6873T	probably benign	Het
Olfr66	T	A	7: 103,881,380	I288F	probably benign	Het
Olfr705	A	G	7: 106,714,025	S219P	probably benign	Het
Olfr986	T	A	9: 40,187,527	N137K	probably benign	Het
Paqr6	A	G	3: 88,366,184	Y136C	probably damaging	Het
Pcdh18	T	A	3: 49,756,044	D274V	probably damaging	Het
Phip	A	G	9: 82,886,692	Y1196H	probably damaging	Het
Prc1	T	C	7: 80,309,442	L345S	probably damaging	Het
Smpdl3a	A	G	10: 57,809,180		probably benign	Het
Ssfa2	A	G	2: 79,660,285	N943S	probably benign	Het
Tac1	G	T	6: 7,559,119		probably null	Het
Tg	A	G	15: 66,764,291	T576A	probably benign	Het
Thbs2	A	T	17: 14,676,316	D770E	probably damaging	Het
Tmem117	T	C	15: 95,011,450	V248A	possibly damaging	Het
Trpm8	T	C	1: 88,328,250	I209T	possibly damaging	Het
Ttc30a1	G	T	2: 75,980,632	T369K	probably benign	Het
Wrap53	A	G	11: 69,563,591	F244L	probably damaging	Het
Wrap73	A	T	4: 154,148,780	Q137L	probably benign	Het
Zfhx4	A	T	3: 5,402,374	T2531S	probably benign	Het

Other mutations in C1s2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01503:C1s2	APN	6	124625653	missense	probably damaging	0.99
IGL02112:C1s2	APN	6	124625308	missense	probably benign	0.28
R0616:C1s2	UTSW	6	124628764	missense	probably damaging	1.00
R0621:C1s2	UTSW	6	124631112	missense	probably damaging	1.00
R1439:C1s2	UTSW	6	124630167	splice site	probably benign
R1451:C1s2	UTSW	6	124625494	missense	probably benign	0.06
R1484:C1s2	UTSW	6	124625645	missense	possibly damaging	0.95
R1570:C1s2	UTSW	6	124625764	missense	probably benign	0.01
R1824:C1s2	UTSW	6	124635682	missense	probably benign	0.03
R2009:C1s2	UTSW	6	124635089	missense	probably damaging	1.00
R2109:C1s2	UTSW	6	124635045	missense	probably damaging	0.96
R2197:C1s2	UTSW	6	124632110	missense	probably damaging	1.00
R4421:C1s2	UTSW	6	124625215	missense	probably benign	0.39
R4573:C1s2	UTSW	6	124628243	intron	probably null
R4906:C1s2	UTSW	6	124635114	nonsense	probably null
R4923:C1s2	UTSW	6	124625690	missense	probably benign	0.00
R4977:C1s2	UTSW	6	124635639	missense	probably damaging	0.96
R5030:C1s2	UTSW	6	124635588	missense	possibly damaging	0.77
R5690:C1s2	UTSW	6	124631037	missense	probably benign	0.13
R5708:C1s2	UTSW	6	124625743	nonsense	probably null
R5846:C1s2	UTSW	6	124631164	missense	probably damaging	1.00
R6176:C1s2	UTSW	6	124625809	missense	probably damaging	1.00
R6177:C1s2	UTSW	6	124630001	missense	probably damaging	0.96
R6842:C1s2	UTSW	6	124627502	missense	probably benign	0.12
R7291:C1s2	UTSW	6	124625384	missense	probably benign	0.16
R7590:C1s2	UTSW	6	124632128	missense	probably damaging	1.00
R7721:C1s2	UTSW	6	124630058	missense	possibly damaging	0.73
R7864:C1s2	UTSW	6	124625287	missense	probably benign	0.18
R7886:C1s2	UTSW	6	124628330	missense	possibly damaging	0.95
R7947:C1s2	UTSW	6	124625287	missense	probably benign	0.18
R7969:C1s2	UTSW	6	124628330	missense	possibly damaging	0.95
X0062:C1s2	UTSW	6	124635090	missense	probably damaging	1.00

Posted On

2015-04-16