Mutagenetix > Incidental Mutation

Incidental Mutation 'R0661:C1ra'

61836

Institutional Source

Beutler Lab

Gene Symbol

C1ra

Ensembl Gene

ENSMUSG00000055172

Gene Name

complement component 1, r subcomponent A

Synonyms

mC1rA

MMRRC Submission

038846-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0661 (G1)

Quality Score

127

Status

Not validated

Chromosome

Chromosomal Location

124489580-124500399 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 124499336 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 507 (H507Q)

Ref Sequence

ENSEMBL: ENSMUSP00000063707 (fasta)

Gene Model

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

AlphaFold

Q8CG16

Predicted Effect

probably benign
Transcript: ENSMUST00000068593
AA Change: H507Q

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

SMART Domains

Protein: ENSMUSP00000063707
Gene: ENSMUSG00000055172
AA Change: H507Q

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: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1b	T	A	3: 20,370,163 (GRCm39)	T148S	possibly damaging	Het
Anks3	A	G	16: 4,766,198 (GRCm39)	F124L	probably damaging	Het
Ar	T	A	X: 97,194,171 (GRCm39)	Y262N	probably damaging	Het
Asxl1	T	A	2: 153,242,644 (GRCm39)	S1065T	possibly damaging	Het
Brip1	A	T	11: 86,001,189 (GRCm39)	I749N	possibly damaging	Het
Cdk9	G	A	2: 32,599,832 (GRCm39)	T135I	probably damaging	Het
Col1a1	A	G	11: 94,840,215 (GRCm39)	T1088A	unknown	Het
Cpne2	T	C	8: 95,282,667 (GRCm39)	I283T	possibly damaging	Het
Dcaf17	T	C	2: 70,918,779 (GRCm39)	L451P	probably damaging	Het
Dhx57	C	T	17: 80,576,293 (GRCm39)	C599Y	probably damaging	Het
Drd1	T	A	13: 54,207,057 (GRCm39)	N379Y	possibly damaging	Het
Fsip2	A	G	2: 82,816,513 (GRCm39)	D4082G	possibly damaging	Het
Grin2a	G	T	16: 9,810,336 (GRCm39)	P21Q	probably damaging	Het
Heyl	G	T	4: 123,139,824 (GRCm39)	V128F	probably damaging	Het
Hoxd12	A	G	2: 74,506,236 (GRCm39)	E216G	probably damaging	Het
Inpp4b	C	A	8: 82,468,091 (GRCm39)	A18E	possibly damaging	Het
Invs	G	A	4: 48,421,861 (GRCm39)	R831H	probably benign	Het
Lrrk2	T	C	15: 91,671,219 (GRCm39)	V2000A	probably damaging	Het
Msh3	T	C	13: 92,481,604 (GRCm39)	N303D	possibly damaging	Het
Or11g27	A	G	14: 50,771,552 (GRCm39)	T228A	probably benign	Het
Or5an9	T	C	19: 12,187,068 (GRCm39)	L46P	probably damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Pcdh18	A	C	3: 49,707,767 (GRCm39)	S902R	possibly damaging	Het
Prdm15	A	T	16: 97,630,882 (GRCm39)	V190E	probably benign	Het
Ranbp2	T	G	10: 58,314,555 (GRCm39)	S1758R	probably benign	Het
Rimbp2	A	G	5: 128,863,774 (GRCm39)	V738A	probably benign	Het
Rtl5	T	C	X: 101,114,056 (GRCm39)	H138R	possibly damaging	Het
Sec11a	A	G	7: 80,584,787 (GRCm39)	V50A	probably damaging	Het
Shroom1	T	C	11: 53,357,764 (GRCm39)	S772P	possibly damaging	Het
Slc26a6	T	C	9: 108,736,312 (GRCm39)		probably null	Het
Slf1	A	G	13: 77,231,715 (GRCm39)	W555R	probably benign	Het
Spx	A	G	6: 142,359,565 (GRCm39)	S5G	possibly damaging	Het
Tcp1	T	C	17: 13,142,200 (GRCm39)	V398A	probably benign	Het
Tm6sf1	G	A	7: 81,515,093 (GRCm39)		probably null	Het
Tsbp1	A	T	17: 34,678,887 (GRCm39)	I217F	possibly damaging	Het
Ufsp2	T	A	8: 46,432,270 (GRCm39)	M1K	probably null	Het
Usf1	G	A	1: 171,245,067 (GRCm39)	R196Q	probably damaging	Het
Vmn2r75	G	A	7: 85,814,866 (GRCm39)	A209V	probably benign	Het
Yme1l1	T	A	2: 23,081,054 (GRCm39)	M442K	probably damaging	Het
Zfand3	A	G	17: 30,354,372 (GRCm39)	E63G	probably damaging	Het
Zfp740	A	G	15: 102,121,094 (GRCm39)	T136A	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
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
R7892:C1ra	UTSW	6	124,496,374 (GRCm39)	missense	probably benign	0.07
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'- TGTGACACAGAAGGAGCGCATC -3'
(R):5'- CGAATCCGCTGACATAACCCATGAG -3'

Sequencing Primer
(F):5'- CATCATCAGAGGGCAGCCAG -3'
(R):5'- GGCCATAGAAGGTCTCATTGTC -3'

Posted On

2013-07-30