Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02724:Cd55'

305126

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cd55

Ensembl Gene

ENSMUSG00000026399

Gene Name

CD55 molecule, decay accelerating factor for complement

Synonyms

Daf-GPI, GPI-DAF, Cromer blood group, Daf1, complement-glycosylphosphatidylinositol

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02724

Quality Score

Status

Chromosome

Chromosomal Location

130366764-130390481 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 130377149 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027650]

AlphaFold

Q61475

Predicted Effect

probably benign
Transcript: ENSMUST00000027650

SMART Domains

Protein: ENSMUSP00000027650
Gene: ENSMUSG00000026399

Domain	Start	End	E-Value	Type
low complexity region	11	30	N/A	INTRINSIC
CCP	36	94	2.21e-12	SMART
CCP	98	158	3.56e-7	SMART
CCP	163	220	6.34e-13	SMART
CCP	225	284	1.28e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122830

Predicted Effect

probably benign
Transcript: ENSMUST00000140400

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140725

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes an inhibitor of both the classical and the alternative pathways of complement activation. The encoded preproprotein undergoes post-translational processing to generate a mature polypeptide anchored to the plasma membrane via a glycosylphosphatidylinositol moiety. Erythrocytes from mice deficient in the encoded protein exhibit impaired regulation of complement activation resulting in enhanced complement deposition. Mice lacking the encoded protein exhibit enhanced susceptibility to experimentally induced myasthenia gravis. This gene is located adjacent to a closely related gene on chromosome 1. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygous mutant mice show increased susceptibility to injury following ethanol exposure, to experimental autoimmune myasthenia gravis and to acute nephrotoxic nephritis. Another allele results in an abnormal complement cascade leading to increased C3 deposition. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accs	T	G	2: 93,676,121 (GRCm39)	K85Q	probably damaging	Het
Acmsd	A	T	1: 127,676,822 (GRCm39)	T116S	possibly damaging	Het
Agrn	T	A	4: 156,257,264 (GRCm39)	K1189*	probably null	Het
Alk	T	C	17: 72,292,455 (GRCm39)	R508G	probably benign	Het
Arhgap23	T	A	11: 97,382,005 (GRCm39)	Y1123N	probably damaging	Het
Arl6ip5	G	T	6: 97,209,365 (GRCm39)	M133I	probably benign	Het
Axin2	G	A	11: 108,833,772 (GRCm39)	G573D	possibly damaging	Het
B4galt2	A	G	4: 117,734,075 (GRCm39)		probably null	Het
Baz2b	G	T	2: 59,807,718 (GRCm39)	D180E	possibly damaging	Het
Btnl6	G	T	17: 34,727,149 (GRCm39)	Y460*	probably null	Het
Cct7	A	T	6: 85,436,131 (GRCm39)	D14V	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cdh2	C	T	18: 16,762,537 (GRCm39)	R526Q	probably benign	Het
Chi3l1	A	C	1: 134,116,981 (GRCm39)	E315A	probably damaging	Het
Cmya5	A	G	13: 93,233,163 (GRCm39)	S642P	probably benign	Het
Cpm	C	A	10: 117,465,756 (GRCm39)	T43K	probably damaging	Het
Cracd	T	C	5: 77,006,306 (GRCm39)	V889A	unknown	Het
Cyp8b1	A	T	9: 121,744,453 (GRCm39)	V293D	probably benign	Het
Dock1	T	G	7: 134,765,082 (GRCm39)	D1691E	probably benign	Het
Fasn	T	C	11: 120,700,659 (GRCm39)	D2120G	probably benign	Het
Gal3st4	T	C	5: 138,263,679 (GRCm39)	K440R	probably benign	Het
Gfpt1	A	T	6: 87,033,164 (GRCm39)	K130*	probably null	Het
Gpr26	T	C	7: 131,576,121 (GRCm39)		probably null	Het
Htr2a	A	T	14: 74,882,502 (GRCm39)	I163F	probably damaging	Het
Ift70a2	T	C	2: 75,806,682 (GRCm39)	E610G	probably benign	Het
Insrr	A	G	3: 87,716,879 (GRCm39)	D673G	probably benign	Het
Ipo8	G	T	6: 148,692,979 (GRCm39)	C636*	probably null	Het
Kirrel1	C	A	3: 86,997,780 (GRCm39)	E248*	probably null	Het
Lrp6	A	G	6: 134,461,228 (GRCm39)	V743A	probably damaging	Het
Lrrc45	C	A	11: 120,609,144 (GRCm39)	S374R	probably benign	Het
Map3k9	G	A	12: 81,771,516 (GRCm39)	P714S	probably benign	Het
Mrgprb8	T	A	7: 48,039,121 (GRCm39)	L264Q	possibly damaging	Het
Mroh4	C	A	15: 74,478,000 (GRCm39)	W902L	probably benign	Het
Nfat5	T	A	8: 108,085,367 (GRCm39)	D535E	probably damaging	Het
Nfatc3	T	C	8: 106,834,817 (GRCm39)	V713A	probably benign	Het
Npc1l1	C	T	11: 6,164,684 (GRCm39)	V1122M	possibly damaging	Het
Nsg2	A	G	11: 32,005,011 (GRCm39)		probably null	Het
Or4c15	C	A	2: 88,759,792 (GRCm39)	R289L	probably damaging	Het
Or8s10	T	A	15: 98,335,660 (GRCm39)	F103L	probably benign	Het
Pax9	A	T	12: 56,756,604 (GRCm39)	H314L	possibly damaging	Het
Phf21a	A	T	2: 92,190,592 (GRCm39)	I584F	probably damaging	Het
Pip5k1c	A	G	10: 81,149,296 (GRCm39)	E536G	probably benign	Het
Plekhm3	A	G	1: 64,834,276 (GRCm39)	S736P	probably damaging	Het
Ppp3cb	T	A	14: 20,573,645 (GRCm39)		probably null	Het
Prdm9	A	T	17: 15,783,522 (GRCm39)	S14R	probably benign	Het
Proc	A	G	18: 32,267,925 (GRCm39)	I71T	probably damaging	Het
Prom2	T	A	2: 127,380,577 (GRCm39)		probably benign	Het
Psd	T	C	19: 46,307,984 (GRCm39)	T675A	probably benign	Het
Rnf215	G	T	11: 4,090,305 (GRCm39)	R341L	probably damaging	Het
Ryr3	A	G	2: 112,732,921 (GRCm39)		probably null	Het
Sh2d7	C	A	9: 54,448,105 (GRCm39)	T42N	probably benign	Het
Sh3glb2	C	T	2: 30,236,368 (GRCm39)	G279D	probably benign	Het
Slc25a46	A	G	18: 31,738,868 (GRCm39)		probably benign	Het
Snx17	T	C	5: 31,354,390 (GRCm39)	S167P	probably damaging	Het
Snx19	A	G	9: 30,343,556 (GRCm39)	N572S	possibly damaging	Het
Sptbn4	G	A	7: 27,067,104 (GRCm39)	R1937C	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Srsf11	T	C	3: 157,722,068 (GRCm39)		probably benign	Het
Taar7b	A	T	10: 23,876,581 (GRCm39)	M249L	probably benign	Het
Tle6	G	A	10: 81,435,898 (GRCm39)	Q6*	probably null	Het
Twnk	G	T	19: 44,996,557 (GRCm39)	R330L	probably damaging	Het
Unc13a	C	A	8: 72,108,949 (GRCm39)		probably benign	Het
Vmn2r107	A	G	17: 20,577,006 (GRCm39)	T335A	possibly damaging	Het
Wdtc1	A	T	4: 133,024,789 (GRCm39)	S469R	possibly damaging	Het
Ypel1	A	G	16: 16,921,466 (GRCm39)	Y73H	probably benign	Het
Zfp382	A	T	7: 29,833,162 (GRCm39)	Y271F	probably benign	Het

Other mutations in Cd55

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00809:Cd55	APN	1	130,380,248 (GRCm39)	nonsense	probably null
IGL02207:Cd55	APN	1	130,380,156 (GRCm39)	missense	possibly damaging	0.46
IGL02933:Cd55	APN	1	130,380,261 (GRCm39)	missense	probably damaging	1.00
IGL02955:Cd55	APN	1	130,377,219 (GRCm39)	missense	probably damaging	0.98
IGL03198:Cd55	APN	1	130,368,108 (GRCm39)	missense	probably benign	0.03
PIT4618001:Cd55	UTSW	1	130,384,606 (GRCm39)	missense	probably benign
R0055:Cd55	UTSW	1	130,387,313 (GRCm39)	splice site	probably benign
R0411:Cd55	UTSW	1	130,390,294 (GRCm39)	splice site	probably benign
R0426:Cd55	UTSW	1	130,376,109 (GRCm39)	missense	probably benign	0.07
R1488:Cd55	UTSW	1	130,376,115 (GRCm39)	missense	probably damaging	0.98
R1728:Cd55	UTSW	1	130,387,370 (GRCm39)	missense	probably benign
R1728:Cd55	UTSW	1	130,377,160 (GRCm39)	missense	probably benign	0.32
R1729:Cd55	UTSW	1	130,387,370 (GRCm39)	missense	probably benign
R1729:Cd55	UTSW	1	130,377,160 (GRCm39)	missense	probably benign	0.32
R1730:Cd55	UTSW	1	130,387,370 (GRCm39)	missense	probably benign
R1730:Cd55	UTSW	1	130,377,160 (GRCm39)	missense	probably benign	0.32
R1739:Cd55	UTSW	1	130,387,370 (GRCm39)	missense	probably benign
R1739:Cd55	UTSW	1	130,377,160 (GRCm39)	missense	probably benign	0.32
R1762:Cd55	UTSW	1	130,387,370 (GRCm39)	missense	probably benign
R1762:Cd55	UTSW	1	130,377,160 (GRCm39)	missense	probably benign	0.32
R1783:Cd55	UTSW	1	130,387,370 (GRCm39)	missense	probably benign
R1783:Cd55	UTSW	1	130,377,160 (GRCm39)	missense	probably benign	0.32
R1784:Cd55	UTSW	1	130,387,370 (GRCm39)	missense	probably benign
R1784:Cd55	UTSW	1	130,377,160 (GRCm39)	missense	probably benign	0.32
R1785:Cd55	UTSW	1	130,387,370 (GRCm39)	missense	probably benign
R1785:Cd55	UTSW	1	130,377,160 (GRCm39)	missense	probably benign	0.32
R1835:Cd55	UTSW	1	130,375,346 (GRCm39)	splice site	probably benign
R2049:Cd55	UTSW	1	130,377,160 (GRCm39)	missense	probably benign	0.32
R2122:Cd55	UTSW	1	130,387,354 (GRCm39)	missense	possibly damaging	0.94
R2141:Cd55	UTSW	1	130,377,160 (GRCm39)	missense	probably benign	0.32
R2142:Cd55	UTSW	1	130,377,160 (GRCm39)	missense	probably benign	0.32
R2935:Cd55	UTSW	1	130,380,163 (GRCm39)	missense	possibly damaging	0.65
R4326:Cd55	UTSW	1	130,380,220 (GRCm39)	missense	probably damaging	1.00
R4328:Cd55	UTSW	1	130,380,220 (GRCm39)	missense	probably damaging	1.00
R4328:Cd55	UTSW	1	130,375,104 (GRCm39)	intron	probably benign
R4329:Cd55	UTSW	1	130,380,220 (GRCm39)	missense	probably damaging	1.00
R5051:Cd55	UTSW	1	130,376,085 (GRCm39)	missense	probably damaging	0.99
R6467:Cd55	UTSW	1	130,375,348 (GRCm39)	splice site	probably benign
R7219:Cd55	UTSW	1	130,390,343 (GRCm39)	missense	possibly damaging	0.73
R8010:Cd55	UTSW	1	130,387,353 (GRCm39)	missense	probably benign	0.00
R8695:Cd55	UTSW	1	130,380,273 (GRCm39)	missense	probably benign	0.00
R8882:Cd55	UTSW	1	130,387,501 (GRCm39)	missense	probably benign	0.02
R9369:Cd55	UTSW	1	130,375,187 (GRCm39)	nonsense	probably null
R9411:Cd55	UTSW	1	130,368,114 (GRCm39)	missense	probably benign	0.03
Z1088:Cd55	UTSW	1	130,380,216 (GRCm39)	missense	probably benign	0.01

Posted On

2015-04-16