Mutagenetix > Incidental Mutation

Incidental Mutation 'R4909:C1ra'

379283

Institutional Source

Beutler Lab

Gene Symbol

C1ra

Ensembl Gene

ENSMUSG00000055172

Gene Name

complement component 1, r subcomponent A

Synonyms

mC1rA

MMRRC Submission

042511-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4909 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124489580-124500399 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124499293 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 493 (D493G)

Ref Sequence

ENSEMBL: ENSMUSP00000063707 (fasta)

Gene Model

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

AlphaFold

Q8CG16

Predicted Effect

probably damaging
Transcript: ENSMUST00000068593
AA Change: D493G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000063707
Gene: ENSMUSG00000055172
AA Change: D493G

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

Meta Mutation Damage Score

0.5470

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.7%

Validation Efficiency

97% (101/104)

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030C10Rik	A	T	12: 20,865,089 (GRCm39)		noncoding transcript	Het
Aars1	G	A	8: 111,781,715 (GRCm39)	G929D	probably damaging	Het
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Actn4	A	T	7: 28,598,082 (GRCm39)	L506Q	probably damaging	Het
Adam26a	A	T	8: 44,023,475 (GRCm39)	F5Y	probably benign	Het
Adamts5	G	A	16: 85,696,954 (GRCm39)	Q68*	probably null	Het
Adcy9	A	G	16: 4,116,618 (GRCm39)	I871T	probably benign	Het
Ak5	A	T	3: 152,361,514 (GRCm39)	L136H	probably damaging	Het
Ap1g2	A	G	14: 55,342,483 (GRCm39)		probably null	Het
Ap2a1	G	A	7: 44,555,805 (GRCm39)	T355M	probably damaging	Het
Ap3s2	T	C	7: 79,564,989 (GRCm39)	D60G	possibly damaging	Het
Apold1	G	A	6: 134,960,558 (GRCm39)	R4Q	probably benign	Het
Atp13a5	G	T	16: 29,152,846 (GRCm39)	Q207K	possibly damaging	Het
BC035947	A	C	1: 78,474,666 (GRCm39)	I622S	probably damaging	Het
Bmper	G	T	9: 23,289,021 (GRCm39)	V339F	probably benign	Het
Btbd8	C	T	5: 107,655,176 (GRCm39)	Q992*	probably null	Het
C3	C	T	17: 57,533,830 (GRCm39)		probably null	Het
Cabp4	T	A	19: 4,187,120 (GRCm39)	I209F	possibly damaging	Het
Cacna1s	A	T	1: 136,007,342 (GRCm39)	H453L	probably damaging	Het
Camk2g	A	G	14: 20,842,652 (GRCm39)	V32A	probably benign	Het
Ccdc175	G	A	12: 72,206,527 (GRCm39)	R240C	probably damaging	Het
Cdk13	C	T	13: 17,946,988 (GRCm39)	S590N	possibly damaging	Het
Cfap45	A	T	1: 172,357,443 (GRCm39)	T24S	probably benign	Het
Clca3a1	T	G	3: 144,730,324 (GRCm39)	K174Q	probably damaging	Het
Col1a2	G	A	6: 4,529,058 (GRCm39)		probably benign	Het
Colgalt1	A	T	8: 72,073,277 (GRCm39)	I323F	possibly damaging	Het
Cpeb3	A	T	19: 37,152,059 (GRCm39)	S106T	probably damaging	Het
Cpeb3	T	C	19: 37,151,633 (GRCm39)	S248G	possibly damaging	Het
Ctcfl	C	T	2: 172,937,191 (GRCm39)	A576T	probably benign	Het
Cyp4f16	T	G	17: 32,769,295 (GRCm39)	V395G	possibly damaging	Het
Dchs1	C	T	7: 105,415,462 (GRCm39)	G605S	probably damaging	Het
Egflam	A	T	15: 7,249,110 (GRCm39)	F903I	probably damaging	Het
Eif5a	G	A	11: 69,808,311 (GRCm39)	A62V	possibly damaging	Het
Fam217a	A	G	13: 35,094,389 (GRCm39)	S609P	probably damaging	Het
Fhad1	T	A	4: 141,712,822 (GRCm39)	I206F	probably benign	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Fras1	T	A	5: 96,856,617 (GRCm39)	M2000K	probably benign	Het
Frmd5	C	T	2: 121,422,134 (GRCm39)		probably null	Het
Gle1	T	C	2: 29,826,092 (GRCm39)	L57P	probably benign	Het
Glrx3	C	A	7: 137,046,765 (GRCm39)	N52K	probably damaging	Het
Grin3b	A	G	10: 79,812,938 (GRCm39)	*1004W	probably null	Het
Hectd4	T	A	5: 121,401,954 (GRCm39)	F347L	probably benign	Het
Htra1	G	A	7: 130,586,802 (GRCm39)	V462I	probably benign	Het
Itga11	A	G	9: 62,662,581 (GRCm39)	Y518C	probably damaging	Het
Krtap15-1	T	C	16: 88,626,253 (GRCm39)	F88L	probably benign	Het
Ktn1	A	T	14: 47,943,917 (GRCm39)	R866W	probably damaging	Het
Lamb1	G	A	12: 31,338,280 (GRCm39)	R483H	probably damaging	Het
Megf6	C	T	4: 154,349,848 (GRCm39)	R983C	probably damaging	Het
Mybpc3	T	A	2: 90,965,157 (GRCm39)	D1075E	probably benign	Het
Myo7b	A	T	18: 32,097,489 (GRCm39)	N1792K	probably benign	Het
Nabp2	A	T	10: 128,237,556 (GRCm39)		probably benign	Het
Neil3	A	G	8: 54,091,928 (GRCm39)	C7R	probably damaging	Het
Nxpe2	T	A	9: 48,230,897 (GRCm39)	I491F	possibly damaging	Het
Obscn	A	G	11: 58,952,291 (GRCm39)	V4292A	possibly damaging	Het
Ogfod3	A	G	11: 121,088,318 (GRCm39)	S139P	probably damaging	Het
Oog2	T	C	4: 143,921,669 (GRCm39)	I211T	possibly damaging	Het
Oosp1	T	C	19: 11,666,080 (GRCm39)	D70G	probably benign	Het
Or10j2	A	T	1: 173,098,546 (GRCm39)	D268V	probably damaging	Het
Or1ab2	A	G	8: 72,863,425 (GRCm39)	N5S	probably damaging	Het
Or56a42-ps1	C	A	7: 104,777,435 (GRCm39)	V70L	probably benign	Het
Or6c210	A	G	10: 129,496,589 (GRCm39)	I305V	probably benign	Het
Padi3	T	C	4: 140,522,937 (GRCm39)	D345G	probably damaging	Het
Pcyt2	A	G	11: 120,506,246 (GRCm39)	F71L	probably benign	Het
Pi4k2b	T	C	5: 52,911,971 (GRCm39)		probably benign	Het
Pigr	A	C	1: 130,776,195 (GRCm39)	T577P	possibly damaging	Het
Pirb	G	A	7: 3,722,361 (GRCm39)	Q161*	probably null	Het
Pnlip	A	G	19: 58,664,672 (GRCm39)	E204G	possibly damaging	Het
Pop7	G	T	5: 137,500,161 (GRCm39)	D57E	probably benign	Het
Ppfia4	A	T	1: 134,260,239 (GRCm39)	I8N	probably damaging	Het
Pprc1	A	G	19: 46,052,758 (GRCm39)	T759A	probably damaging	Het
Prom1	T	C	5: 44,202,894 (GRCm39)	N213S	probably benign	Het
Prop1	GCTTCACT	GCTTCACTTCACT	11: 50,842,863 (GRCm39)		probably null	Het
Prop1	A	T	11: 50,842,872 (GRCm39)	L105H	probably damaging	Het
Pwp2	A	T	10: 78,018,328 (GRCm39)	M121K	possibly damaging	Het
Rap1gds1	A	T	3: 138,689,509 (GRCm39)	M161K	possibly damaging	Het
Rps6kb2	T	A	19: 4,207,002 (GRCm39)		probably benign	Het
Rxfp1	A	G	3: 79,552,109 (GRCm39)	S731P	probably benign	Het
Scfd1	T	C	12: 51,437,195 (GRCm39)	V137A	probably benign	Het
Slc6a15	G	A	10: 103,240,275 (GRCm39)	D333N	probably damaging	Het
Sqor	T	C	2: 122,627,101 (GRCm39)	V74A	possibly damaging	Het
Stil	T	A	4: 114,881,422 (GRCm39)	Y655*	probably null	Het
Syt14	A	T	1: 192,581,167 (GRCm39)	I468K	probably damaging	Het
Tbc1d31	T	C	15: 57,825,661 (GRCm39)		probably null	Het
Tspyl5	A	T	15: 33,686,995 (GRCm39)	S317T	probably damaging	Het
Ttf1	C	T	2: 28,954,668 (GRCm39)	H11Y	possibly damaging	Het
Ttf2	T	C	3: 100,861,631 (GRCm39)	T620A	probably damaging	Het
Usp32	G	A	11: 84,946,598 (GRCm39)	Q269*	probably null	Het
Vsig10	T	A	5: 117,476,308 (GRCm39)	V254E	probably benign	Het
Wdr6	C	T	9: 108,450,187 (GRCm39)	A1114T	probably benign	Het
Zfp280d	A	G	9: 72,238,714 (GRCm39)	S63G	probably damaging	Het
Zfp607b	A	G	7: 27,403,221 (GRCm39)	D559G	probably benign	Het
Zfp934	T	C	13: 62,665,768 (GRCm39)	H291R	probably 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
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'- GCAGCTGACAGGTTCTCATC -3'
(R):5'- AGTGTGACACTGTTTTCCAGC -3'

Sequencing Primer
(F):5'- AGCTGACAGGTTCTCATCTTGTC -3'
(R):5'- ACACTGTTTTCCAGCTCCAGTAGAG -3'

Posted On

2016-04-15