Mutagenetix > Incidental Mutation

Incidental Mutation 'R2197:C1s2'

238410

Institutional Source

Beutler Lab

Gene Symbol

C1s2

Ensembl Gene

ENSMUSG00000079343

Gene Name

complement component 1, s subcomponent 2

Synonyms

Gm5077

MMRRC Submission

040199-MU

Accession Numbers

Essential gene?

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

Stock #

R2197 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

124601584-124613044 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124609069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 163 (S163P)

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: S157P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000066999
Gene: ENSMUSG00000079343
AA Change: S157P

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: S163P

SMART Domains

Protein: ENSMUSP00000145029
Gene: ENSMUSG00000107554
AA Change: S163P

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: S163P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam11	A	T	11: 102,660,750 (GRCm39)	I94F	possibly damaging	Het
Ankrd50	A	T	3: 38,509,741 (GRCm39)	D875E	probably damaging	Het
Arf3	T	C	15: 98,639,285 (GRCm39)	N60S	probably benign	Het
Atxn2	T	G	5: 121,944,280 (GRCm39)		probably null	Het
B3gnt8	A	T	7: 25,328,373 (GRCm39)	I268F	probably benign	Het
Bmp1	T	A	14: 70,723,712 (GRCm39)	D708V	possibly damaging	Het
C3	A	G	17: 57,526,623 (GRCm39)	I786T	probably benign	Het
Cacna2d2	T	A	9: 107,404,602 (GRCm39)	L1138Q	probably damaging	Het
Cage1	T	A	13: 38,207,029 (GRCm39)	Y272F	probably damaging	Het
Cd300ld	A	T	11: 114,875,058 (GRCm39)	M192K	possibly damaging	Het
Cdc5l	A	T	17: 45,718,745 (GRCm39)	F624I	probably benign	Het
Cdh8	T	A	8: 99,922,897 (GRCm39)	Q333L	probably damaging	Het
Ciapin1	T	A	8: 95,555,787 (GRCm39)	K128*	probably null	Het
Col6a3	T	A	1: 90,731,467 (GRCm39)	E988D	probably benign	Het
Crip3	A	G	17: 46,740,338 (GRCm39)	E46G	probably damaging	Het
D5Ertd579e	A	G	5: 36,772,137 (GRCm39)	S753P	possibly damaging	Het
Dock6	T	A	9: 21,744,177 (GRCm39)	D126V	probably damaging	Het
Duxf4	T	A	10: 58,072,158 (GRCm39)	I19F	possibly damaging	Het
Dvl3	A	G	16: 20,342,506 (GRCm39)	E153G	probably damaging	Het
Epas1	A	T	17: 87,136,471 (GRCm39)	M748L	probably benign	Het
Exoc8	A	G	8: 125,622,477 (GRCm39)	L630P	probably damaging	Het
Fam227a	G	A	15: 79,507,668 (GRCm39)	T454M	probably damaging	Het
Flnc	A	T	6: 29,459,134 (GRCm39)	D2472V	probably damaging	Het
Galnt4	G	A	10: 98,944,509 (GRCm39)	G78E	probably damaging	Het
Ghr	A	T	15: 3,362,956 (GRCm39)	L172*	probably null	Het
Gjb5	A	T	4: 127,250,063 (GRCm39)		probably null	Het
Hdac5	T	C	11: 102,095,340 (GRCm39)	D427G	probably damaging	Het
Hsd17b4	G	A	18: 50,316,369 (GRCm39)		probably null	Het
Kcnab1	T	C	3: 65,017,368 (GRCm39)	I59T	probably benign	Het
Kcnh7	A	G	2: 62,607,950 (GRCm39)	Y544H	probably damaging	Het
Kdm7a	A	G	6: 39,123,870 (GRCm39)	S765P	probably damaging	Het
Lama1	A	T	17: 68,059,936 (GRCm39)	H675L	probably benign	Het
Lemd3	CCCTCCTCCTCCTCCTCCTCC	CCCTCCTCCTCCTCCTCC	10: 120,814,432 (GRCm39)		probably benign	Het
Llgl1	T	C	11: 60,600,865 (GRCm39)	S654P	possibly damaging	Het
Lvrn	G	T	18: 47,011,409 (GRCm39)	M455I	probably benign	Het
Mfsd12	T	A	10: 81,193,568 (GRCm39)	L46Q	probably damaging	Het
Mtcl1	A	T	17: 66,673,427 (GRCm39)	M783K	probably benign	Het
Mthfd1l	A	T	10: 3,978,399 (GRCm39)	T420S	probably damaging	Het
Mybphl	T	A	3: 108,284,635 (GRCm39)	I294N	probably damaging	Het
Or4c52	G	A	2: 89,845,768 (GRCm39)	G165S	probably damaging	Het
Or4f14b	T	C	2: 111,775,658 (GRCm39)	T48A	possibly damaging	Het
Or52ab7	T	A	7: 102,977,831 (GRCm39)	L46*	probably null	Het
Oxa1l	A	T	14: 54,598,924 (GRCm39)	Q70L	probably benign	Het
Pcdhac2	A	T	18: 37,279,185 (GRCm39)	I722F	probably damaging	Het
Pde4d	A	G	13: 110,084,924 (GRCm39)	D460G	probably damaging	Het
Pth1r	CGGG	CGGGGGG	9: 110,556,058 (GRCm39)		probably benign	Het
Rab11fip3	A	G	17: 26,287,152 (GRCm39)	S334P	probably benign	Het
Ror2	C	T	13: 53,439,816 (GRCm39)		probably null	Het
Scnn1g	G	C	7: 121,366,519 (GRCm39)	W572S	probably damaging	Het
Skint5	G	A	4: 113,798,046 (GRCm39)	S179L	probably damaging	Het
Slc22a2	G	T	17: 12,817,949 (GRCm39)	G175V	probably damaging	Het
Spaca6	G	A	17: 18,056,416 (GRCm39)		probably null	Het
Tbc1d30	C	T	10: 121,140,312 (GRCm39)	R207H	probably damaging	Het
Tdrd5	A	G	1: 156,087,435 (GRCm39)	I829T	probably benign	Het
Tmcc3	T	C	10: 94,414,780 (GRCm39)	S161P	probably damaging	Het
Tmem150b	A	G	7: 4,719,353 (GRCm39)	V189A	probably benign	Het
Tmem248	A	G	5: 130,260,597 (GRCm39)	D54G	probably benign	Het
Trmt1	T	A	8: 85,417,487 (GRCm39)	S121T	probably damaging	Het
Tyk2	C	T	9: 21,026,503 (GRCm39)	V698M	probably damaging	Het
Usp17la	A	G	7: 104,509,919 (GRCm39)	R175G	probably damaging	Het
Vav1	A	G	17: 57,610,140 (GRCm39)	N464S	probably benign	Het
Vmn2r57	T	G	7: 41,078,249 (GRCm39)		probably null	Het
Vmn2r78	A	G	7: 86,570,535 (GRCm39)	Y351C	probably 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
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
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'- CCTGAGGATCCTATTCAGTTTGTG -3'
(R):5'- TGGAGAGTATTTAAGCAACAAACC -3'

Sequencing Primer
(F):5'- CAGTTTGTGAACAGCTAACAGC -3'
(R):5'- GTATTTAAGCAACAAACCTTTTCTGG -3'

Posted On

2014-10-02