Mutagenetix > Incidental Mutation

Incidental Mutation 'R0961:Cd55b'

81856

Institutional Source

Beutler Lab

Gene Symbol

Cd55b

Ensembl Gene

ENSMUSG00000026401

Gene Name

CD55 molecule, decay accelerating factor for complement B

Synonyms

Daf2, TM-DAF, complement-transmembrane, Daf-TM

MMRRC Submission

039090-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0961 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130316274-130350746 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 130341813 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 275 (W275R)

Ref Sequence

ENSEMBL: ENSMUSP00000108107 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112488] [ENSMUST00000119432]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000112488
AA Change: W275R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108107
Gene: ENSMUSG00000026401
AA Change: W275R

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
CCP	34	92	2.21e-12	SMART
CCP	96	156	1.47e-8	SMART
CCP	161	218	1.56e-12	SMART
CCP	223	282	2.19e-16	SMART
low complexity region	287	298	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119432

SMART Domains

Protein: ENSMUSP00000113352
Gene: ENSMUSG00000026401

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
CCP	34	92	2.21e-12	SMART
CCP	96	156	1.47e-8	SMART
CCP	161	218	1.56e-12	SMART
transmembrane domain	247	269	N/A	INTRINSIC

Meta Mutation Damage Score

0.9432

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 95.6%
20x: 89.7%

Validation Efficiency

100% (60/60)

MGI Phenotype

FUNCTION: This gene encodes an inhibitor of both the classical and the alternative pathways of complement activation. This gene is located adjacent to a closely related gene on chromosome 1 and preferentially expressed in the spleen and testis. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2015]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	C	2: 151,314,686 (GRCm39)	S331A	probably benign	Het
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
4933412E24Rik	T	C	15: 59,887,160 (GRCm39)	I427V	probably benign	Het
Abca15	A	T	7: 119,960,208 (GRCm39)	K664*	probably null	Het
Adcy8	A	G	15: 64,626,711 (GRCm39)	V709A	possibly damaging	Het
Aox1	T	A	1: 58,349,230 (GRCm39)	D665E	probably benign	Het
Arhgap22	C	T	14: 33,089,070 (GRCm39)	T352M	probably damaging	Het
Atg9a	G	A	1: 75,163,390 (GRCm39)	L237F	probably damaging	Het
Ccdc178	T	G	18: 22,152,098 (GRCm39)	K672T	possibly damaging	Het
Ccdc63	T	G	5: 122,249,009 (GRCm39)	K440T	possibly damaging	Het
Col4a3	T	C	1: 82,686,297 (GRCm39)		probably benign	Het
Dmpk	C	G	7: 18,821,195 (GRCm39)	D204E	probably damaging	Het
Egfr	T	C	11: 16,812,964 (GRCm39)	V148A	probably damaging	Het
F11	A	T	8: 45,694,531 (GRCm39)	V610E	probably damaging	Het
Fam83b	A	T	9: 76,398,577 (GRCm39)	I842N	probably damaging	Het
Fbxw9	T	C	8: 85,788,658 (GRCm39)	Y165H	probably benign	Het
Fzd6	C	T	15: 38,889,073 (GRCm39)	L64F	probably damaging	Het
Galntl6	A	T	8: 59,364,374 (GRCm39)	H45Q	probably benign	Het
Gbp7	C	A	3: 142,247,318 (GRCm39)	S276*	probably null	Het
Gnb5	A	T	9: 75,242,933 (GRCm39)	I168F	probably damaging	Het
Gon4l	T	C	3: 88,805,403 (GRCm39)		probably benign	Het
Gpat4	C	T	8: 23,670,927 (GRCm39)	C95Y	probably damaging	Het
Gstm7	T	A	3: 107,834,302 (GRCm39)		probably benign	Het
Hyal4	A	G	6: 24,755,745 (GRCm39)		probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kank4	G	A	4: 98,644,756 (GRCm39)	R999W	probably benign	Het
Kdm2a	A	G	19: 4,379,219 (GRCm39)	V92A	probably benign	Het
Klhl9	T	C	4: 88,639,974 (GRCm39)	D89G	probably benign	Het
Klre1	A	G	6: 129,559,378 (GRCm39)	T103A	probably benign	Het
Lamc1	CGCTGGC	CGC	1: 153,097,392 (GRCm39)		probably null	Het
Lamc1	G	T	1: 153,097,446 (GRCm39)	L1533I	probably benign	Het
Lca5l	T	C	16: 95,962,560 (GRCm39)	H455R	possibly damaging	Het
Lmo7	C	A	14: 102,031,705 (GRCm39)	T33K	probably benign	Het
Lrig1	A	G	6: 94,640,895 (GRCm39)		probably benign	Het
Mep1b	T	A	18: 21,221,786 (GRCm39)	Y245*	probably null	Het
Mettl24	A	G	10: 40,686,615 (GRCm39)	T331A	possibly damaging	Het
Mycbp2	A	C	14: 103,422,271 (GRCm39)	D2467E	probably damaging	Het
Myo15b	T	C	11: 115,773,280 (GRCm39)	S1871P	probably benign	Het
Ncbp1	T	C	4: 46,165,193 (GRCm39)	L502P	possibly damaging	Het
Npr1	T	C	3: 90,366,028 (GRCm39)	N588D	possibly damaging	Het
Or2g7	T	A	17: 38,378,814 (GRCm39)	Y251N	probably damaging	Het
Or8k16	A	T	2: 85,519,790 (GRCm39)	T6S	probably benign	Het
Oxtr	C	T	6: 112,454,138 (GRCm39)	R42Q	probably benign	Het
Phactr4	A	G	4: 132,105,731 (GRCm39)	S112P	probably benign	Het
R3hdm1	C	T	1: 128,121,333 (GRCm39)	T279I	probably benign	Het
Rere	A	G	4: 150,699,829 (GRCm39)		probably benign	Het
Ryr1	T	A	7: 28,709,122 (GRCm39)	E4779V	unknown	Het
Sh2d4b	A	G	14: 40,596,139 (GRCm39)	V81A	probably benign	Het
Slc10a5	T	C	3: 10,399,484 (GRCm39)	H392R	probably benign	Het
Slc26a4	T	C	12: 31,585,618 (GRCm39)	T477A	probably benign	Het
Spata31d1b	T	C	13: 59,865,618 (GRCm39)	V922A	possibly damaging	Het
Sptan1	T	A	2: 29,870,075 (GRCm39)		probably null	Het
Stard9	A	G	2: 120,523,920 (GRCm39)	D705G	probably benign	Het
Tdpoz3	T	A	3: 93,734,188 (GRCm39)	S288T	probably benign	Het
Tsga10	A	G	1: 37,800,509 (GRCm39)		probably null	Het
Usp18	G	A	6: 121,238,452 (GRCm39)	A200T	probably benign	Het
Zfp759	A	T	13: 67,287,927 (GRCm39)	T493S	probably benign	Het

Other mutations in Cd55b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01151:Cd55b	APN	1	130,350,643 (GRCm39)	missense	possibly damaging	0.86
IGL02086:Cd55b	APN	1	130,345,919 (GRCm39)	missense	probably benign	0.05
IGL02629:Cd55b	APN	1	130,347,535 (GRCm39)	splice site	probably benign
IGL02735:Cd55b	APN	1	130,316,413 (GRCm39)	missense	probably damaging	0.98
IGL03212:Cd55b	APN	1	130,339,179 (GRCm39)	missense	probably benign	0.15
R0827:Cd55b	UTSW	1	130,341,973 (GRCm39)	missense	probably damaging	0.96
R1381:Cd55b	UTSW	1	130,347,412 (GRCm39)	missense	probably damaging	1.00
R1762:Cd55b	UTSW	1	130,316,392 (GRCm39)	nonsense	probably null
R1839:Cd55b	UTSW	1	130,341,842 (GRCm39)	missense	probably damaging	1.00
R1940:Cd55b	UTSW	1	130,345,843 (GRCm39)	critical splice donor site	probably null
R2359:Cd55b	UTSW	1	130,345,858 (GRCm39)	missense	probably damaging	1.00
R2504:Cd55b	UTSW	1	130,337,612 (GRCm39)	missense	probably damaging	1.00
R4282:Cd55b	UTSW	1	130,344,596 (GRCm39)	missense	probably damaging	0.99
R6276:Cd55b	UTSW	1	130,345,903 (GRCm39)	missense	probably damaging	1.00
R6306:Cd55b	UTSW	1	130,341,803 (GRCm39)	missense	probably damaging	0.99
R6977:Cd55b	UTSW	1	130,347,528 (GRCm39)	missense	probably damaging	0.96
R7026:Cd55b	UTSW	1	130,316,427 (GRCm39)	missense	probably benign	0.06
R7528:Cd55b	UTSW	1	130,347,473 (GRCm39)	missense	possibly damaging	0.95
R7726:Cd55b	UTSW	1	130,339,230 (GRCm39)	missense	possibly damaging	0.48
R8215:Cd55b	UTSW	1	130,347,337 (GRCm39)	frame shift	probably null
R8217:Cd55b	UTSW	1	130,347,337 (GRCm39)	frame shift	probably null
R8260:Cd55b	UTSW	1	130,316,415 (GRCm39)	missense	probably damaging	0.99
R8353:Cd55b	UTSW	1	130,341,870 (GRCm39)	missense	probably benign	0.00
R8467:Cd55b	UTSW	1	130,347,501 (GRCm39)	missense	possibly damaging	0.89
R8960:Cd55b	UTSW	1	130,338,375 (GRCm39)	missense	possibly damaging	0.93
R9227:Cd55b	UTSW	1	130,350,619 (GRCm39)	nonsense	probably null
R9230:Cd55b	UTSW	1	130,350,619 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGTGGTCTTTCCCTTAAAGCTCTGCTA -3'
(R):5'- GGCACTGTCAGTATCCACTTTTCAGAA -3'

Sequencing Primer
(F):5'- agaacttaaactcacctctgcc -3'
(R):5'- CACTTTTCAGAAAGGCTGAGC -3'

Posted On

2013-11-08