Mutagenetix > Incidental Mutation

Incidental Mutation 'R6176:C1s2'

487762

Institutional Source

Beutler Lab

Gene Symbol

C1s2

Ensembl Gene

ENSMUSG00000079343

Gene Name

complement component 1, s subcomponent 2

Synonyms

Gm5077

MMRRC Submission

044318-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

R6176 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124601584-124613044 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 124602768 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 481 (H481L)

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: H475L

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

SMART Domains

Protein: ENSMUSP00000066999
Gene: ENSMUSG00000079343
AA Change: H475L

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: H481L

SMART Domains

Protein: ENSMUSP00000145029
Gene: ENSMUSG00000107554
AA Change: H481L

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: H481L

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

97% (60/62)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akna	T	C	4: 63,295,969 (GRCm39)	Q966R	probably benign	Het
Amn	A	G	12: 111,240,590 (GRCm39)	D74G	possibly damaging	Het
Ank2	T	A	3: 126,739,120 (GRCm39)	T2255S	probably benign	Het
Ankfy1	G	A	11: 72,645,285 (GRCm39)	C788Y	probably benign	Het
Apaf1	A	G	10: 90,895,433 (GRCm39)		probably null	Het
Asl	T	A	5: 130,047,720 (GRCm39)	H82L	probably benign	Het
Atrn	A	G	2: 130,788,011 (GRCm39)	E271G	probably benign	Het
B4galnt3	A	G	6: 120,201,125 (GRCm39)	F184S	probably damaging	Het
Cav2	A	G	6: 17,286,918 (GRCm39)	D58G	possibly damaging	Het
Cc2d2a	A	T	5: 43,866,455 (GRCm39)	H755L	probably benign	Het
Ccdc65	A	G	15: 98,606,433 (GRCm39)		probably null	Het
Celsr3	A	T	9: 108,705,554 (GRCm39)	Y679F	probably damaging	Het
Cep135	A	T	5: 76,772,490 (GRCm39)	Y625F	probably benign	Het
Cfhr1	A	G	1: 139,478,654 (GRCm39)	S58P	probably damaging	Het
Clip4	T	A	17: 72,113,628 (GRCm39)	C259*	probably null	Het
Cyp2j12	T	A	4: 96,029,074 (GRCm39)	Q69L	probably damaging	Het
Dock3	G	A	9: 106,790,147 (GRCm39)	T1484I	probably benign	Het
Ecscr	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	18: 35,849,813 (GRCm39)		probably benign	Het
Efcab3	A	T	11: 104,683,383 (GRCm39)	I1604F	probably benign	Het
Fam43b	T	C	4: 138,122,522 (GRCm39)	D266G	probably damaging	Het
Fbxl13	T	A	5: 21,705,498 (GRCm39)	I618F	possibly damaging	Het
Gne	C	T	4: 44,053,019 (GRCm39)		probably benign	Het
Gnpat	T	A	8: 125,605,593 (GRCm39)	V321E	probably damaging	Het
Gpatch8	G	A	11: 102,378,350 (GRCm39)	A200V	unknown	Het
Grid1	C	A	14: 35,284,504 (GRCm39)	A749E	probably benign	Het
Grip2	C	T	6: 91,756,832 (GRCm39)	V540I	probably benign	Het
Ice2	C	T	9: 69,324,354 (GRCm39)	T759M	probably damaging	Het
Jrk	G	T	15: 74,578,189 (GRCm39)	N365K	possibly damaging	Het
Kank4	A	G	4: 98,653,791 (GRCm39)	I879T	probably damaging	Het
Krtap20-1	T	A	16: 88,812,288 (GRCm39)	Y24*	probably null	Het
Lao1	T	A	4: 118,819,197 (GRCm39)	M1K	probably null	Het
Mlf1	A	G	3: 67,291,927 (GRCm39)	R31G	probably damaging	Het
Nt5c3b	T	C	11: 100,330,974 (GRCm39)		probably benign	Het
Nusap1	A	G	2: 119,460,902 (GRCm39)	R132G	probably benign	Het
Or11g1	A	G	14: 50,651,847 (GRCm39)	Y282C	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or5w20	G	A	2: 87,727,280 (GRCm39)	V254I	probably benign	Het
Or8d2b	A	C	9: 38,788,673 (GRCm39)	D67A	probably damaging	Het
Paqr9	G	T	9: 95,442,828 (GRCm39)	V273L	possibly damaging	Het
Pcdha9	A	T	18: 37,131,984 (GRCm39)	D351V	probably benign	Het
Pcdhga1	A	G	18: 37,797,282 (GRCm39)	D762G	probably benign	Het
Pde3a	T	A	6: 141,444,615 (GRCm39)	L1141Q	possibly damaging	Het
Pga5	T	A	19: 10,649,149 (GRCm39)		probably null	Het
Phldb3	C	A	7: 24,326,127 (GRCm39)	R570S	probably damaging	Het
Slc22a6	A	C	19: 8,599,161 (GRCm39)	E264A	probably damaging	Het
Slc49a4	C	T	16: 35,525,167 (GRCm39)	M426I	probably benign	Het
Slit1	T	C	19: 41,626,034 (GRCm39)	K576R	probably damaging	Het
Sox21	T	C	14: 118,473,040 (GRCm39)	K3R	possibly damaging	Het
Stk32c	A	T	7: 138,700,691 (GRCm39)	D297E	probably benign	Het
Suclg1	T	C	6: 73,252,326 (GRCm39)	V323A	probably damaging	Het
Tas1r2	T	G	4: 139,396,199 (GRCm39)	C513G	probably damaging	Het
Tbc1d23	A	G	16: 56,992,152 (GRCm39)	Y603H	probably damaging	Het
Tbc1d31	T	C	15: 57,816,192 (GRCm39)	V642A	probably damaging	Het
Tle2	A	T	10: 81,423,168 (GRCm39)	D486V	probably damaging	Het
Tmem232	A	G	17: 65,792,867 (GRCm39)	I110T	probably damaging	Het
Tmem39b	A	G	4: 129,586,894 (GRCm39)	Y106H	probably damaging	Het
Trpm4	T	G	7: 44,976,100 (GRCm39)	N229T	probably damaging	Het
Tspo	A	G	15: 83,458,007 (GRCm39)	T120A	probably benign	Het
Ttc28	G	A	5: 111,371,851 (GRCm39)	A767T	probably damaging	Het
Usp53	G	A	3: 122,727,652 (GRCm39)	Q977*	probably null	Het
Vmn1r215	T	A	13: 23,260,528 (GRCm39)	D189E	probably damaging	Het
Vmn2r12	T	C	5: 109,233,866 (GRCm39)	Y782C	probably benign	Het
Vmn2r54	A	G	7: 12,349,908 (GRCm39)	L558P	probably damaging	Het
Zfp268	T	A	4: 145,350,628 (GRCm39)	C688*	probably null	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
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'- TCACAGGGTCTTTCAGCTGG -3'
(R):5'- TTCAGAGGTCAACATCATTCGATC -3'

Sequencing Primer
(F):5'- GACCAGGGCAATGTCATTGTC -3'
(R):5'- CAGCAGAAGATATTCGGAGG -3'

Posted On

2017-10-10