Mutagenetix > Incidental Mutation

Incidental Mutation 'R7892:C1ra'

609383

Institutional Source

Beutler Lab

Gene Symbol

C1ra

Ensembl Gene

ENSMUSG00000055172

Gene Name

complement component 1, r subcomponent A

Synonyms

mC1rA

MMRRC Submission

045944-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7892 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

124489580-124500399 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124496374 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 367 (M367V)

Ref Sequence

ENSEMBL: ENSMUSP00000063707 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068593]

AlphaFold

Q8CG16

Predicted Effect

probably benign
Transcript: ENSMUST00000068593
AA Change: M367V

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000063707
Gene: ENSMUSG00000055172
AA Change: M367V

Domain	Start	End	E-Value	Type
CUB	14	140	1.56e-35	SMART
EGF_CA	141	189	1.88e-10	SMART
CUB	192	304	4.74e-35	SMART
CCP	308	370	5.56e-9	SMART
CCP	375	446	1.53e-6	SMART
Tryp_SPc	462	699	2.7e-71	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	A	G	16: 14,436,349 (GRCm39)	E134G		Het
Acsm4	G	A	7: 119,293,889 (GRCm39)	V87M	possibly damaging	Het
Adamts3	T	C	5: 90,009,288 (GRCm39)	N125S	probably benign	Het
Arhgef4	A	G	1: 34,760,885 (GRCm39)	E47G	unknown	Het
Ces2b	T	C	8: 105,559,385 (GRCm39)	W84R	probably damaging	Het
Clca3a1	T	C	3: 144,436,579 (GRCm39)	T835A	probably benign	Het
Cmya5	T	C	13: 93,232,865 (GRCm39)	E741G	probably damaging	Het
Cspg4b	C	T	13: 113,456,140 (GRCm39)	R729C		Het
D330020A13Rik	T	C	6: 120,271,819 (GRCm39)	L165P	unknown	Het
Dtnbp1	A	T	13: 45,075,765 (GRCm39)	L326*	probably null	Het
Ecpas	T	C	4: 58,828,593 (GRCm39)	I947V	probably benign	Het
Fat4	A	T	3: 39,003,588 (GRCm39)		probably null	Het
Fbxl9	A	T	8: 106,042,165 (GRCm39)	I221N	possibly damaging	Het
Fuom	T	A	7: 139,679,492 (GRCm39)	I143F	unknown	Het
Gm14444	A	T	2: 174,858,524 (GRCm39)	M33L	probably damaging	Het
Hmcn1	T	C	1: 150,540,643 (GRCm39)	T2889A	probably benign	Het
Kif5b	G	A	18: 6,212,517 (GRCm39)	T769M	probably benign	Het
Kif9	G	A	9: 110,343,682 (GRCm39)	R567H	not run	Het
Kmt2c	A	T	5: 25,504,814 (GRCm39)	M3498K	probably benign	Het
Ly6e	T	A	15: 74,829,700 (GRCm39)	L15*	probably null	Het
Malt1	G	A	18: 65,597,187 (GRCm39)		probably null	Het
Msantd5	G	A	11: 51,125,613 (GRCm39)	E179K	possibly damaging	Het
Mylk	G	C	16: 34,699,894 (GRCm39)	S419T	probably benign	Het
Oacyl	T	C	18: 65,870,918 (GRCm39)	L373P	probably benign	Het
Or10d1	A	C	9: 39,483,845 (GRCm39)	S237A	possibly damaging	Het
Or4b1d	T	C	2: 89,968,836 (GRCm39)	I216V	probably benign	Het
Or5b116	T	A	19: 13,422,662 (GRCm39)	C95*	probably null	Het
Or5b21	C	T	19: 12,839,843 (GRCm39)	R235*	probably null	Het
Pcdh20	A	T	14: 88,704,867 (GRCm39)	L811*	probably null	Het
Pgrmc2	A	T	3: 41,037,415 (GRCm39)	D5E	probably damaging	Het
Pign	A	C	1: 105,585,401 (GRCm39)	F49L	probably benign	Het
Pip5k1b	T	C	19: 24,337,457 (GRCm39)	D277G	probably benign	Het
Ppm1m	A	G	9: 106,075,895 (GRCm39)	V11A	probably benign	Het
Prl7a1	A	T	13: 27,817,661 (GRCm39)	V201E	not run	Het
Samhd1	A	G	2: 156,958,415 (GRCm39)	S269P	probably damaging	Het
Sik2	A	G	9: 50,920,132 (GRCm39)	V15A	probably damaging	Het
Slc4a7	G	A	14: 14,773,348 (GRCm38)	E773K	probably benign	Het
Sntg1	T	C	1: 8,853,024 (GRCm39)	D42G	probably damaging	Het
Speg	A	T	1: 75,403,810 (GRCm39)	N2664Y	probably damaging	Het
Tcstv1b	G	T	13: 120,634,695 (GRCm39)		probably benign	Het
Treh	A	G	9: 44,596,015 (GRCm39)	Y435C	probably damaging	Het
Trim59	A	G	3: 68,945,140 (GRCm39)	S67P	probably benign	Het
Trim68	A	T	7: 102,328,004 (GRCm39)	C309S	unknown	Het
Tubb4a	G	T	17: 57,387,880 (GRCm39)	S382*	probably null	Het
Vmn2r15	A	T	5: 109,434,217 (GRCm39)	I829N	probably damaging	Het
Vmn2r68	T	C	7: 84,883,722 (GRCm39)	T128A	probably benign	Het
Vmn2r70	T	A	7: 85,208,588 (GRCm39)	I630L	possibly damaging	Het
Zc3hav1	A	G	6: 38,306,156 (GRCm39)	I632T	probably benign	Het
Zfp558	A	G	9: 18,379,993 (GRCm39)	S13P	possibly damaging	Het

Other mutations in C1ra

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00555:C1ra	APN	6	124,499,250 (GRCm39)	missense	probably benign	0.00
IGL03079:C1ra	APN	6	124,496,794 (GRCm39)	missense	probably damaging	1.00
IGL03151:C1ra	APN	6	124,496,730 (GRCm39)	missense	probably benign	0.09
innate	UTSW	6	124,499,610 (GRCm39)	missense	probably damaging	1.00
mueller-eberhardt	UTSW	6	124,489,760 (GRCm39)	critical splice donor site	probably null
pillemer	UTSW	6	124,493,683 (GRCm39)	missense	probably damaging	1.00
R0331:C1ra	UTSW	6	124,496,394 (GRCm39)	splice site	probably null
R0457:C1ra	UTSW	6	124,499,712 (GRCm39)	missense	probably benign
R0472:C1ra	UTSW	6	124,494,403 (GRCm39)	missense	possibly damaging	0.95
R0570:C1ra	UTSW	6	124,490,664 (GRCm39)	missense	probably benign	0.00
R0634:C1ra	UTSW	6	124,494,464 (GRCm39)	missense	possibly damaging	0.49
R0661:C1ra	UTSW	6	124,499,336 (GRCm39)	missense	probably benign
R1451:C1ra	UTSW	6	124,498,600 (GRCm39)	missense	probably benign	0.04
R1640:C1ra	UTSW	6	124,499,233 (GRCm39)	missense	probably benign	0.17
R1698:C1ra	UTSW	6	124,499,725 (GRCm39)	missense	probably benign	0.05
R4020:C1ra	UTSW	6	124,496,736 (GRCm39)	missense	probably benign	0.01
R4801:C1ra	UTSW	6	124,490,727 (GRCm39)	missense	probably benign	0.00
R4802:C1ra	UTSW	6	124,490,727 (GRCm39)	missense	probably benign	0.00
R4909:C1ra	UTSW	6	124,499,293 (GRCm39)	missense	probably damaging	1.00
R5086:C1ra	UTSW	6	124,496,688 (GRCm39)	missense	probably damaging	1.00
R5108:C1ra	UTSW	6	124,499,881 (GRCm39)	missense	probably damaging	1.00
R5372:C1ra	UTSW	6	124,498,584 (GRCm39)	missense	probably damaging	1.00
R5421:C1ra	UTSW	6	124,499,749 (GRCm39)	missense	probably benign	0.36
R5635:C1ra	UTSW	6	124,493,683 (GRCm39)	missense	probably damaging	1.00
R6438:C1ra	UTSW	6	124,490,736 (GRCm39)	missense	possibly damaging	0.54
R6518:C1ra	UTSW	6	124,498,534 (GRCm39)	splice site	probably null
R6738:C1ra	UTSW	6	124,494,718 (GRCm39)	missense	probably damaging	1.00
R6804:C1ra	UTSW	6	124,494,684 (GRCm39)	missense	probably benign
R6805:C1ra	UTSW	6	124,494,684 (GRCm39)	missense	probably benign
R6939:C1ra	UTSW	6	124,489,760 (GRCm39)	critical splice donor site	probably null
R6981:C1ra	UTSW	6	124,494,684 (GRCm39)	missense	probably benign
R6982:C1ra	UTSW	6	124,494,684 (GRCm39)	missense	probably benign
R7056:C1ra	UTSW	6	124,494,684 (GRCm39)	missense	probably benign
R7057:C1ra	UTSW	6	124,494,684 (GRCm39)	missense	probably benign
R7094:C1ra	UTSW	6	124,494,684 (GRCm39)	missense	probably benign
R7468:C1ra	UTSW	6	124,499,403 (GRCm39)	nonsense	probably null
R7476:C1ra	UTSW	6	124,499,658 (GRCm39)	missense	probably damaging	1.00
R7478:C1ra	UTSW	6	124,494,684 (GRCm39)	missense	probably benign
R7479:C1ra	UTSW	6	124,494,684 (GRCm39)	missense	probably benign
R7481:C1ra	UTSW	6	124,494,684 (GRCm39)	missense	probably benign
R7512:C1ra	UTSW	6	124,494,684 (GRCm39)	missense	probably benign
R7725:C1ra	UTSW	6	124,494,684 (GRCm39)	missense	probably benign
R7728:C1ra	UTSW	6	124,494,684 (GRCm39)	missense	probably benign
R7730:C1ra	UTSW	6	124,494,684 (GRCm39)	missense	probably benign
R7818:C1ra	UTSW	6	124,494,684 (GRCm39)	missense	probably benign
R7819:C1ra	UTSW	6	124,494,684 (GRCm39)	missense	probably benign
R7835:C1ra	UTSW	6	124,494,684 (GRCm39)	missense	probably benign
R7854:C1ra	UTSW	6	124,494,700 (GRCm39)	missense	probably benign	0.00
R7876:C1ra	UTSW	6	124,494,684 (GRCm39)	missense	probably benign
R7877:C1ra	UTSW	6	124,494,684 (GRCm39)	missense	probably benign
R7881:C1ra	UTSW	6	124,494,684 (GRCm39)	missense	probably benign
R7883:C1ra	UTSW	6	124,494,684 (GRCm39)	missense	probably benign
R7899:C1ra	UTSW	6	124,494,684 (GRCm39)	missense	probably benign
R7901:C1ra	UTSW	6	124,494,684 (GRCm39)	missense	probably benign
R7902:C1ra	UTSW	6	124,494,684 (GRCm39)	missense	probably benign
R7903:C1ra	UTSW	6	124,494,684 (GRCm39)	missense	probably benign
R7947:C1ra	UTSW	6	124,494,338 (GRCm39)	missense	probably benign	0.02
R8087:C1ra	UTSW	6	124,490,831 (GRCm39)	missense	probably damaging	1.00
R8098:C1ra	UTSW	6	124,494,684 (GRCm39)	missense	probably benign
R8099:C1ra	UTSW	6	124,494,684 (GRCm39)	missense	probably benign
R8271:C1ra	UTSW	6	124,499,610 (GRCm39)	missense	probably damaging	1.00
R8300:C1ra	UTSW	6	124,498,597 (GRCm39)	missense	probably benign	0.04
R8824:C1ra	UTSW	6	124,494,654 (GRCm39)	missense	probably damaging	0.99
R9227:C1ra	UTSW	6	124,493,739 (GRCm39)	missense	probably damaging	1.00
R9248:C1ra	UTSW	6	124,489,580 (GRCm39)	start gained	probably benign
R9275:C1ra	UTSW	6	124,494,383 (GRCm39)	missense	probably benign	0.26
R9382:C1ra	UTSW	6	124,490,819 (GRCm39)	missense	probably benign	0.00
R9477:C1ra	UTSW	6	124,499,455 (GRCm39)	missense	probably benign	0.00
X0062:C1ra	UTSW	6	124,499,398 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACATCTGTGAGGGAGCTGAG -3'
(R):5'- GTATGGTCAGTAGGGTGCACAC -3'

Sequencing Primer
(F):5'- CTGAGGTCTAAGAGATGGACAC -3'
(R):5'- AGTAAAATTCAGTTCTGGCAGAGC -3'

Posted On

2019-12-20