Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03151:C1ra'

411095

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 #

IGL03151

Quality Score

Status

Chromosome

Chromosomal Location

124489580-124500399 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 124496730 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 389 (I389F)

Ref Sequence

ENSEMBL: ENSMUSP00000063707 (fasta)

Gene Model

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

AlphaFold

Q8CG16

Predicted Effect

probably benign
Transcript: ENSMUST00000068593
AA Change: I389F

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000063707
Gene: ENSMUSG00000055172
AA Change: I389F

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot1	G	A	12: 84,061,326 (GRCm39)	A211T	probably damaging	Het
Ampd1	T	C	3: 102,999,786 (GRCm39)		probably null	Het
Armc3	T	G	2: 19,243,509 (GRCm39)	L75R	probably damaging	Het
Atp9b	T	C	18: 80,820,065 (GRCm39)	D573G	probably benign	Het
Baz1a	T	A	12: 54,955,934 (GRCm39)		probably null	Het
Ccdc87	T	A	19: 4,891,585 (GRCm39)	N692K	probably benign	Het
Ccr9	A	G	9: 123,603,638 (GRCm39)		probably benign	Het
Ces4a	G	T	8: 105,874,829 (GRCm39)		probably null	Het
Dazap1	G	A	10: 80,116,754 (GRCm39)		probably benign	Het
Dock5	A	G	14: 68,103,516 (GRCm39)	Y45H	probably damaging	Het
Eloa	A	T	4: 135,737,732 (GRCm39)	Y409*	probably null	Het
Fam170a	A	G	18: 50,414,708 (GRCm39)	E118G	probably damaging	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
Glra1	C	T	11: 55,418,206 (GRCm39)	V180I	probably damaging	Het
Il17rb	T	C	14: 29,728,810 (GRCm39)	T28A	probably benign	Het
Ints9	T	A	14: 65,269,789 (GRCm39)	V493E	possibly damaging	Het
Kcnq5	C	T	1: 21,605,293 (GRCm39)	C204Y	probably damaging	Het
Npc1	A	T	18: 12,352,332 (GRCm39)	N122K	probably benign	Het
Or2b4	G	A	17: 38,116,159 (GRCm39)	G41D	probably damaging	Het
Podnl1	G	A	8: 84,858,818 (GRCm39)	V548I	probably benign	Het
Prss21	A	G	17: 24,088,376 (GRCm39)	T114A	probably damaging	Het
Prss59	A	G	6: 40,902,946 (GRCm39)	F142S	probably damaging	Het
Rab10	G	A	12: 3,299,812 (GRCm39)	T193M	probably benign	Het
Serpini1	T	A	3: 75,520,603 (GRCm39)	S67T	probably benign	Het
Slc35b1	T	C	11: 95,281,212 (GRCm39)		probably null	Het
Sorbs2	A	T	8: 46,252,750 (GRCm39)	H388L	probably benign	Het
Tfap2c	T	A	2: 172,399,110 (GRCm39)	C427*	probably null	Het
Trappc14	A	G	5: 138,260,934 (GRCm39)	L237S	possibly damaging	Het
Ttn	G	T	2: 76,632,732 (GRCm39)	F14107L	probably damaging	Het
Upf1	G	T	8: 70,788,037 (GRCm39)	T774K	probably damaging	Het
Vmn1r170	G	A	7: 23,306,002 (GRCm39)	V135M	probably benign	Het
Vmn2r14	C	T	5: 109,364,260 (GRCm39)	C552Y	probably damaging	Het
Zfp367	A	G	13: 64,293,445 (GRCm39)	I147T	probably damaging	Het
Zfp952	T	C	17: 33,221,982 (GRCm39)	S116P	probably benign	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
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

2016-08-02