Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00555:C1ra'

9324

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

C1ra

Ensembl Gene

ENSMUSG00000055172

Gene Name

complement component 1, r subcomponent A

Synonyms

mC1rA

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00555

Quality Score

Status

Chromosome

Chromosomal Location

124489580-124500399 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124499250 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 479 (F479L)

Ref Sequence

ENSEMBL: ENSMUSP00000063707 (fasta)

Gene Model

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

AlphaFold

Q8CG16

Predicted Effect

probably benign
Transcript: ENSMUST00000068593
AA Change: F479L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000063707
Gene: ENSMUSG00000055172
AA Change: F479L

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam17	A	G	12: 21,378,110 (GRCm39)	V692A	probably damaging	Het
Ankrd12	A	G	17: 66,291,971 (GRCm39)	V1154A	probably benign	Het
Asnsd1	T	C	1: 53,385,787 (GRCm39)	N529S	probably damaging	Het
Cdh9	T	C	15: 16,823,492 (GRCm39)	F158S	probably damaging	Het
Etaa1	A	T	11: 17,897,535 (GRCm39)	M194K	probably damaging	Het
Flvcr2	A	T	12: 85,794,097 (GRCm39)	I158F	possibly damaging	Het
Mtss1	A	G	15: 58,823,317 (GRCm39)		probably null	Het
Ngf	A	G	3: 102,427,788 (GRCm39)	H179R	probably damaging	Het
Plbd2	A	T	5: 120,623,875 (GRCm39)	M549K	possibly damaging	Het
Shc3	A	G	13: 51,615,379 (GRCm39)	S193P	probably damaging	Het
Tat	A	G	8: 110,725,417 (GRCm39)	T421A	probably benign	Het
Tbcel	G	T	9: 42,354,333 (GRCm39)	T165K	probably benign	Het
Tesl2	A	G	X: 23,824,191 (GRCm39)	I328T	probably benign	Het
Trim44	A	G	2: 102,134,824 (GRCm39)	*346R	probably null	Het
Uba6	A	T	5: 86,267,266 (GRCm39)	F921I	possibly damaging	Het

Other mutations in C1ra

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-12-06