Mutagenetix > Incidental Mutation

Incidental Mutation 'R8423:C1rb'

653303

Institutional Source

Beutler Lab

Gene Symbol

C1rb

Ensembl Gene

ENSMUSG00000098470

Gene Name

complement component 1, r subcomponent B

Synonyms

mC1rB, Gm8551

MMRRC Submission

067899-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.856) question?

Stock #

R8423 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124547389-124558003 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 124551617 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 242 (D242E)

Ref Sequence

ENSEMBL: ENSMUSP00000139376 (fasta)

Gene Model

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

AlphaFold

Q8CFG9

Predicted Effect

probably damaging
Transcript: ENSMUST00000184647
AA Change: D242E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000139376
Gene: ENSMUSG00000098470
AA Change: D242E

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

0.2485

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

98% (46/47)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	A	G	12: 113,454,530 (GRCm39)	D449G	possibly damaging	Het
Ampd1	T	C	3: 102,988,305 (GRCm39)	S83P	probably benign	Het
Bub1	G	A	2: 127,649,750 (GRCm39)	L703F	probably benign	Het
Carf	T	A	1: 60,189,752 (GRCm39)	L659Q	possibly damaging	Het
Carmil3	A	G	14: 55,736,522 (GRCm39)	N662S	probably damaging	Het
Ccno	A	G	13: 113,124,678 (GRCm39)	S83G	possibly damaging	Het
Chd3	A	T	11: 69,245,252 (GRCm39)	Y1155*	probably null	Het
Clec16a	A	G	16: 10,394,527 (GRCm39)	E295G	probably benign	Het
Clnk	A	G	5: 38,952,253 (GRCm39)		probably null	Het
Clvs2	T	C	10: 33,498,855 (GRCm39)	D25G	possibly damaging	Het
Cnr2	C	T	4: 135,644,827 (GRCm39)	R302W	probably damaging	Het
Col20a1	A	G	2: 180,640,498 (GRCm39)	T594A	probably damaging	Het
Dclk3	C	T	9: 111,297,787 (GRCm39)	R444W	possibly damaging	Het
Dmxl1	T	C	18: 49,998,183 (GRCm39)	V761A	probably damaging	Het
Dnah7a	C	A	1: 53,512,063 (GRCm39)	K2999N	possibly damaging	Het
Dusp28	T	C	1: 92,834,906 (GRCm39)	S44P	probably damaging	Het
Enpep	T	G	3: 129,102,774 (GRCm39)	N394T	probably damaging	Het
Fam135a	A	T	1: 24,060,998 (GRCm39)	F1343I	probably damaging	Het
Fbxl12	C	A	9: 20,550,160 (GRCm39)	R165L	possibly damaging	Het
Fbxo40	A	T	16: 36,790,947 (GRCm39)	H54Q	probably damaging	Het
Galnt9	A	G	5: 110,744,111 (GRCm39)	D315G	probably benign	Het
Gbp4	T	A	5: 105,267,800 (GRCm39)	D482V	probably damaging	Het
Gm17175	T	A	14: 51,809,070 (GRCm39)	I99F	possibly damaging	Het
Heatr4	A	G	12: 84,027,104 (GRCm39)	F51S	probably benign	Het
Herc1	T	C	9: 66,415,442 (GRCm39)	S4806P	probably damaging	Het
Hoxc11	G	A	15: 102,863,177 (GRCm39)	V73I	possibly damaging	Het
Knl1	T	G	2: 118,900,513 (GRCm39)	I738S	probably damaging	Het
Lcor	T	C	19: 41,573,888 (GRCm39)	I881T	possibly damaging	Het
Lipt2	T	C	7: 99,809,450 (GRCm39)	F179S	probably damaging	Het
Lrrc8b	G	A	5: 105,628,622 (GRCm39)	V323M	probably damaging	Het
Ltbp1	T	C	17: 75,599,852 (GRCm39)	S665P	probably benign	Het
Miga1	A	T	3: 152,028,045 (GRCm39)	D161E	probably benign	Het
Mynn	A	G	3: 30,657,933 (GRCm39)	T84A	probably benign	Het
Or13c7d	T	C	4: 43,770,598 (GRCm39)	S138G	possibly damaging	Het
Or3a1b	T	C	11: 74,012,492 (GRCm39)	F126L	probably benign	Het
Or4a75	A	T	2: 89,448,331 (GRCm39)	D68E	probably damaging	Het
Pik3r3	C	T	4: 116,079,572 (GRCm39)	S23L	probably benign	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Ralgapa1	A	G	12: 55,705,847 (GRCm39)	S1892P	probably damaging	Het
Slc6a18	T	A	13: 73,813,693 (GRCm39)	Q540L	probably benign	Het
Tfap2a	A	T	13: 40,872,706 (GRCm39)	N323K	possibly damaging	Het
Tgm1	A	T	14: 55,943,100 (GRCm39)	M580K	probably benign	Het
Tnrc6b	G	A	15: 80,813,619 (GRCm39)	G1792D	unknown	Het
Trim66	T	A	7: 109,074,599 (GRCm39)	Q554L	possibly damaging	Het
Ttc28	G	A	5: 111,381,207 (GRCm39)	D1240N	probably benign	Het
Vmn1r238	G	T	18: 3,123,365 (GRCm39)	C16*	probably null	Het
Vmn1r6	G	A	6: 56,979,495 (GRCm39)	M52I	probably benign	Het
Zfp61	A	G	7: 23,991,459 (GRCm39)	F231L	probably benign	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
R6769:C1rb	UTSW	6	124,554,364 (GRCm39)	missense	probably benign	0.00
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
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'- AACAGCCCCTCTGATTCTGC -3'
(R):5'- TTCCCATTAGCGTAGATCTGATG -3'

Sequencing Primer
(F):5'- CTGCATTTATAGCTGAGTGCAG -3'
(R):5'- AAGTCCCCTTGGGTGGACAAG -3'

Posted On

2020-10-20