Mutagenetix > Incidental Mutation

Incidental Mutation 'R6769:C1rb'

532086

Institutional Source

Beutler Lab

Gene Symbol

C1rb

Ensembl Gene

ENSMUSG00000098470

Gene Name

complement component 1, r subcomponent B

Synonyms

mC1rB, Gm8551

MMRRC Submission

044885-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.876) question?

Stock #

R6769 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124547389-124558003 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 124554364 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 382 (S382A)

Ref Sequence

ENSEMBL: ENSMUSP00000139376 (fasta)

Gene Model

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

AlphaFold

Q8CFG9

Predicted Effect

probably benign
Transcript: ENSMUST00000184647
AA Change: S382A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000139376
Gene: ENSMUSG00000098470
AA Change: S382A

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: 98.6%
20x: 95.9%

Validation Efficiency

98% (39/40)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	G	T	8: 71,914,105 (GRCm39)	H174Q	probably damaging	Het
Alox5	C	A	6: 116,392,145 (GRCm39)		probably null	Het
Amer3	C	A	1: 34,627,330 (GRCm39)	A523D	possibly damaging	Het
Apoa4	G	A	9: 46,154,465 (GRCm39)	M355I	probably benign	Het
Atp10b	T	C	11: 43,094,079 (GRCm39)		probably null	Het
Atp9a	A	T	2: 168,516,820 (GRCm39)	Y340N	probably damaging	Het
Csmd1	A	G	8: 16,121,408 (GRCm39)	V1763A	possibly damaging	Het
Ctnnd1	C	A	2: 84,450,269 (GRCm39)	R317L	probably damaging	Het
Ctnnd1	A	T	2: 84,450,454 (GRCm39)	D255E	probably damaging	Het
Dipk1b	A	G	2: 26,524,875 (GRCm39)	R92G	probably benign	Het
Dmxl2	A	T	9: 54,323,808 (GRCm39)	I1192N	probably damaging	Het
Efcab5	A	G	11: 76,996,258 (GRCm39)	V1101A	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Flg	T	C	3: 93,195,630 (GRCm39)		probably benign	Het
Fras1	A	G	5: 96,746,800 (GRCm39)	I623M	possibly damaging	Het
Gm7361	T	A	5: 26,462,767 (GRCm39)	L3*	probably null	Het
Gpr35	T	A	1: 92,910,426 (GRCm39)	M46K	probably damaging	Het
Ighv2-9	A	T	12: 113,842,930 (GRCm39)	F46I	possibly damaging	Het
Kdm4b	C	T	17: 56,658,754 (GRCm39)	A33V	possibly damaging	Het
Klhl5	T	A	5: 65,321,995 (GRCm39)	Y534N	probably damaging	Het
Mccc1	C	T	3: 36,043,992 (GRCm39)		probably null	Het
Memo1	A	T	17: 74,508,273 (GRCm39)	F270L	probably damaging	Het
Mnat1	A	G	12: 73,319,196 (GRCm39)	N273S	probably benign	Het
Niban2	C	T	2: 32,785,666 (GRCm39)			Het
Nxpe3	C	A	16: 55,686,471 (GRCm39)	G179V	probably damaging	Het
Or5b120	T	A	19: 13,480,318 (GRCm39)	F204I	possibly damaging	Het
Otp	A	G	13: 95,012,294 (GRCm39)	D6G	probably damaging	Het
Prdm5	T	A	6: 65,839,920 (GRCm39)	I265K	probably damaging	Het
Ptpn4	T	A	1: 119,643,698 (GRCm39)	N350I	probably benign	Het
Rassf10	A	G	7: 112,553,635 (GRCm39)	M79V	probably benign	Het
Rassf4	T	A	6: 116,618,433 (GRCm39)	D215V	possibly damaging	Het
Rbm12	A	T	2: 155,939,375 (GRCm39)	I299N	possibly damaging	Het
Scfd2	T	C	5: 74,692,117 (GRCm39)	H55R	probably benign	Het
Scn8a	A	G	15: 100,933,445 (GRCm39)	N1550D	probably benign	Het
Skic2	G	A	17: 35,064,166 (GRCm39)	R507*	probably null	Het
Slc30a5	A	C	13: 100,950,368 (GRCm39)	S240A	probably benign	Het
Slc7a4	A	G	16: 17,393,184 (GRCm39)	V205A	possibly damaging	Het
Syde2	G	A	3: 145,704,803 (GRCm39)	G318E	probably damaging	Het
Ttn	T	A	2: 76,538,883 (GRCm39)	D34649V	possibly damaging	Het
Vmn2r83	T	A	10: 79,313,856 (GRCm39)	S155T	probably damaging	Het

Other mutations in C1rb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3722:C1rb	UTSW	6	124,557,620 (GRCm39)	missense	probably damaging	1.00
R4806:C1rb	UTSW	6	124,551,908 (GRCm39)	missense	probably benign	0.18
R5095:C1rb	UTSW	6	124,557,272 (GRCm39)	missense	possibly damaging	0.91
R5572:C1rb	UTSW	6	124,557,758 (GRCm39)	missense	probably benign
R6223:C1rb	UTSW	6	124,551,539 (GRCm39)	missense	probably benign	0.06
R6771:C1rb	UTSW	6	124,554,364 (GRCm39)	missense	probably benign	0.00
R7204:C1rb	UTSW	6	124,554,386 (GRCm39)	missense	probably benign
R7335:C1rb	UTSW	6	124,552,238 (GRCm39)	missense	possibly damaging	0.87
R7341:C1rb	UTSW	6	124,554,411 (GRCm39)	nonsense	probably null
R7554:C1rb	UTSW	6	124,557,365 (GRCm39)	missense	probably damaging	1.00
R7604:C1rb	UTSW	6	124,557,443 (GRCm39)	missense	not run
R7753:C1rb	UTSW	6	124,557,390 (GRCm39)	missense	probably benign	0.00
R7813:C1rb	UTSW	6	124,557,488 (GRCm39)	missense	probably benign	0.00
R8423:C1rb	UTSW	6	124,551,617 (GRCm39)	missense	probably damaging	1.00
R8549:C1rb	UTSW	6	124,551,498 (GRCm39)	missense	probably benign	0.04
R8835:C1rb	UTSW	6	124,552,217 (GRCm39)	missense	probably benign	0.02
R9056:C1rb	UTSW	6	124,553,984 (GRCm39)	missense	probably damaging	1.00
R9091:C1rb	UTSW	6	124,551,947 (GRCm39)	missense	probably damaging	1.00
R9270:C1rb	UTSW	6	124,551,947 (GRCm39)	missense	probably damaging	1.00
R9289:C1rb	UTSW	6	124,552,272 (GRCm39)	missense	possibly damaging	0.61
R9390:C1rb	UTSW	6	124,557,336 (GRCm39)	missense	probably damaging	1.00
R9460:C1rb	UTSW	6	124,557,865 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TAGAAGCTGTTTAGGCCTCATCTC -3'
(R):5'- AATGTCAGGTGTCTCTCAGAGC -3'

Sequencing Primer
(F):5'- TCCAACCTGATGGGCTCTG -3'
(R):5'- GTGTCTCTCAGAGCGGAAAG -3'

Posted On

2018-08-29