Mutagenetix > Incidental Mutations

Incidental Mutation 'R5572:C1rb'

435726

Institutional Source

Beutler Lab

Gene Symbol

C1rb

Ensembl Gene

ENSMUSG00000098470

Gene Name

complement component 1, r subcomponent B

Synonyms

Gm8551, mC1rB

MMRRC Submission

043266-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.800) question?

Stock #

R5572 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124570294-124581171 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124580799 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 632 (S632P)

Ref Sequence

ENSEMBL: ENSMUSP00000139376 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000184647]

Predicted Effect

probably benign
Transcript: ENSMUST00000184647
AA Change: S632P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000139376
Gene: ENSMUSG00000098470
AA Change: S632P

Domain	Start	End	E-Value	Type
CUB	14	140	2.21e-35	SMART
EGF_CA	141	189	1.88e-10	SMART
CUB	192	304	4.74e-35	SMART
CCP	308	370	2.42e-9	SMART
CCP	375	446	1.53e-6	SMART
Tryp_SPc	462	698	5.36e-75	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.2%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	A	T	11: 78,264,567	D167V	probably damaging	Het
Abcb1a	C	T	5: 8,715,108		probably null	Het
Abcd4	T	C	12: 84,606,276	D380G	probably benign	Het
Actr3b	T	A	5: 25,809,888	D68E	probably benign	Het
Apol10a	T	C	15: 77,488,634	S157P	probably damaging	Het
Arap3	A	T	18: 37,991,066	I327N	probably damaging	Het
Arnt	G	T	3: 95,474,704	V198L	possibly damaging	Het
Baiap3	T	A	17: 25,251,475	D86V	possibly damaging	Het
Bcl9l	G	T	9: 44,500,798	R27L	possibly damaging	Het
C1qc	T	C	4: 136,892,462	Y34C	probably benign	Het
C3	A	G	17: 57,224,673	S284P	probably damaging	Het
Cfap44	T	G	16: 44,481,305	V1802G	possibly damaging	Het
Cfhr1	A	G	1: 139,556,427	V117A	possibly damaging	Het
Clca3b	T	C	3: 144,827,309	D654G	probably damaging	Het
Col17a1	A	T	19: 47,650,729	S1126T	probably benign	Het
Cts3	T	A	13: 61,564,968	I313F	probably damaging	Het
Egfl7	T	C	2: 26,591,691	V6A	possibly damaging	Het
Eif2s3y	G	A	Y: 1,016,631	D272N	probably damaging	Het
Fam129a	T	C	1: 151,709,190	S513P	probably benign	Het
Foxp4	A	G	17: 47,880,879	V111A	unknown	Het
Hmcn2	A	T	2: 31,414,525		probably null	Het
Hmcn2	G	A	2: 31,414,526		probably null	Het
Igsf11	C	T	16: 39,024,932	R283C	probably damaging	Het
Il1a	A	G	2: 129,307,918	Y21H	possibly damaging	Het
Il6ra	A	T	3: 89,871,282	V420D	probably damaging	Het
Kdm5a	T	C	6: 120,412,375	V921A	possibly damaging	Het
Kirrel3	G	A	9: 35,000,948	A196T	probably damaging	Het
Klra1	T	A	6: 130,372,839	D212V	possibly damaging	Het
N4bp2l2	G	A	5: 150,662,290	T75I	probably benign	Het
Nnmt	A	G	9: 48,592,147	L193P	probably damaging	Het
Npdc1	G	A	2: 25,408,945	D284N	probably damaging	Het
Ntm	A	G	9: 29,014,216	I191T	probably damaging	Het
Olfr318	A	G	11: 58,720,229	V273A	probably benign	Het
Olfr607	A	C	7: 103,460,698	L170R	probably benign	Het
Olfr652	A	T	7: 104,564,994	T258S	probably benign	Het
Pam	A	C	1: 97,854,744		probably benign	Het
Pomk	T	A	8: 25,983,190	H245L	possibly damaging	Het
Rapgef4	G	A	2: 72,034,120		probably null	Het
Rasip1	G	T	7: 45,636,729	R792L	probably benign	Het
Ret	T	C	6: 118,155,431	Y1016C	probably damaging	Het
Rhbdd1	A	T	1: 82,340,810	N138I	possibly damaging	Het
Snx13	T	G	12: 35,103,120	V383G	probably damaging	Het
Syt3	A	G	7: 44,390,718	H125R	probably benign	Het
Tlr6	A	T	5: 64,955,018	L182Q	probably damaging	Het
Tlr9	T	C	9: 106,225,637	V709A	possibly damaging	Het
Tmprss6	T	C	15: 78,442,422	Y655C	probably damaging	Het
Ttn	A	T	2: 76,853,628		probably benign	Het
Ube3a	T	C	7: 59,288,777	I761T	probably damaging	Het
Ube3b	G	A	5: 114,406,179	D546N	probably damaging	Het
Ugt2b36	A	G	5: 87,089,482	V188A	possibly damaging	Het
Usp29	A	G	7: 6,962,192	I345V	probably benign	Het
Vmn2r78	A	G	7: 86,915,512	K55R	probably benign	Het
Wdsub1	A	G	2: 59,862,707	F288L	possibly damaging	Het
Zan	C	T	5: 137,394,431	V4601M	unknown	Het
Zbtb8b	T	C	4: 129,428,541	K376E	probably damaging	Het
Zfp619	A	T	7: 39,535,239	Y231F	probably benign	Het

Other mutations in C1rb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3722:C1rb	UTSW	6	124580661	missense	probably damaging	1.00
R4806:C1rb	UTSW	6	124574949	missense	probably benign	0.18
R5095:C1rb	UTSW	6	124580313	missense	possibly damaging	0.91
R6223:C1rb	UTSW	6	124574580	missense	probably benign	0.06
R6769:C1rb	UTSW	6	124577405	missense	probably benign	0.00
R6771:C1rb	UTSW	6	124577405	missense	probably benign	0.00
R7204:C1rb	UTSW	6	124577427	missense	probably benign
R7335:C1rb	UTSW	6	124575279	missense	possibly damaging	0.87
R7341:C1rb	UTSW	6	124577452	nonsense	probably null
R7554:C1rb	UTSW	6	124580406	missense	probably damaging	1.00
R7604:C1rb	UTSW	6	124580484	missense	not run
R7753:C1rb	UTSW	6	124580431	missense	probably benign	0.00
R7813:C1rb	UTSW	6	124580529	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GAAGGAGACATTGCTCTACTGG -3'
(R):5'- TGTAGAAGCCATATCCCTCACC -3'

Sequencing Primer
(F):5'- AGTGTCACACTGGGCCC -3'
(R):5'- TATCCCTCACCACACCCAATG -3'

Posted On

2016-10-24