Mutagenetix > Incidental Mutation

Incidental Mutation 'R0031:Ccdc88b'

18627

Institutional Source

Beutler Lab

Gene Symbol

Ccdc88b

Ensembl Gene

ENSMUSG00000047810

Gene Name

coiled-coil domain containing 88B

Synonyms

MMRRC Submission

038325-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0031 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

6844623-6858211 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 6853783 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Tyrosine at position 597 (S597Y)

Ref Sequence

ENSEMBL: ENSMUSP00000109067 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113440]

AlphaFold

Q4QRL3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113440
AA Change: S597Y

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109067
Gene: ENSMUSG00000047810
AA Change: S597Y

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	29	50	N/A	INTRINSIC
Pfam:HOOK	91	503	1.2e-16	PFAM
coiled coil region	731	1308	N/A	INTRINSIC
low complexity region	1420	1429	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 81.0%
3x: 73.5%
10x: 52.2%
20x: 32.1%

Validation Efficiency

93% (95/102)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the hook-related protein family. Members of this family are characterized by an N-terminal potential microtubule binding domain, a central coiled-coiled and a C-terminal Hook-related domain. The encoded protein may be involved in linking organelles to microtubules. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a null ENU-induced allele exhibit decreased susceptibility to P. berghei infection with reduced T cell proliferation, decreased cytokine secretion and increased myeloid cell number. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	A	T	4: 42,973,712	K1015M	probably damaging	Het
Abcb11	G	A	2: 69,285,308	R571C	probably damaging	Het
Agr3	T	C	12: 35,947,591	M100T	probably benign	Het
Ankrd7	T	A	6: 18,870,008	Y253*	probably null	Het
Atp2c2	A	T	8: 119,749,062	T565S	probably benign	Het
C330027C09Rik	C	T	16: 49,017,373	S812F	probably benign	Het
Celsr2	T	C	3: 108,413,063	N811S	probably damaging	Het
Cep170	A	T	1: 176,756,091	D907E	probably damaging	Het
Clstn1	G	A	4: 149,634,796	V361M	probably damaging	Het
Cmss1	T	G	16: 57,311,249		probably null	Het
Cobl	T	C	11: 12,254,945	T579A	probably benign	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Csrp2	C	T	10: 110,938,740	S172L	probably benign	Het
Fip1l1	T	C	5: 74,557,109	S235P	probably damaging	Het
Gbgt1	T	A	2: 28,498,450		probably benign	Het
Gml2	T	C	15: 74,824,276	I173T	probably benign	Het
Gucy2c	T	A	6: 136,697,999	I1005F	probably damaging	Het
Irak3	T	A	10: 120,176,320	K88*	probably null	Het
Klc1	T	C	12: 111,777,033	Y265H	probably damaging	Het
Lamb1	G	A	12: 31,301,156	V754I	probably benign	Het
Lrguk	A	T	6: 34,043,496	Q58H	probably damaging	Het
Lyst	A	G	13: 13,708,156	D2902G	probably benign	Het
Mtpap	T	A	18: 4,383,244	I207N	probably damaging	Het
Ncdn	A	T	4: 126,750,108		probably null	Het
Nup160	A	G	2: 90,717,587		probably null	Het
Ormdl1	A	G	1: 53,299,159		probably benign	Het
Pde5a	A	G	3: 122,803,055	M432V	probably benign	Het
Pikfyve	T	A	1: 65,215,929		probably benign	Het
Plcb2	A	G	2: 118,715,461	V581A	probably benign	Het
Plpp6	T	A	19: 28,964,843	N281K	probably benign	Het
Pwp1	T	C	10: 85,885,896	I422T	probably benign	Het
Rims1	T	C	1: 22,296,879	N1199S	probably damaging	Het
Sema3c	T	C	5: 17,694,728	L406P	probably damaging	Het
Senp6	C	T	9: 80,126,243	P84L	probably damaging	Het
Setx	A	G	2: 29,176,929	I2361V	probably benign	Het
Slc25a12	C	T	2: 71,333,614	V106M	possibly damaging	Het
Slc3a1	A	G	17: 85,032,846	Y232C	probably damaging	Het
Taf1c	A	T	8: 119,599,090	C678S	probably benign	Het
Tcp11l2	G	T	10: 84,591,140	C156F	probably damaging	Het
Tmem62	A	G	2: 120,999,113	T316A	probably benign	Het
Ulk4	A	G	9: 121,272,982	I10T	probably damaging	Het
Vps54	T	C	11: 21,312,899	I824T	probably damaging	Het
Wdfy3	A	T	5: 101,889,295	V2042E	probably damaging	Het
Wfdc6b	A	T	2: 164,613,859	E36V	probably damaging	Het
Xpc	C	T	6: 91,491,226	A860T	probably benign	Het

Other mutations in Ccdc88b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01347:Ccdc88b	APN	19	6845086	missense	probably damaging	1.00
IGL01637:Ccdc88b	APN	19	6846710	missense	probably benign	0.13
IGL02201:Ccdc88b	APN	19	6846631	missense	probably damaging	1.00
IGL02260:Ccdc88b	APN	19	6855349	splice site	probably benign
IGL02276:Ccdc88b	APN	19	6856107	critical splice donor site	probably null
IGL02412:Ccdc88b	APN	19	6846644	missense	probably damaging	1.00
IGL02420:Ccdc88b	APN	19	6856949	missense	probably damaging	1.00
IGL02990:Ccdc88b	APN	19	6847409	missense	probably damaging	1.00
R0544:Ccdc88b	UTSW	19	6857266	missense	probably damaging	1.00
R0727:Ccdc88b	UTSW	19	6854214	missense	probably benign
R0920:Ccdc88b	UTSW	19	6846649	missense	probably benign
R0975:Ccdc88b	UTSW	19	6846625	missense	probably damaging	1.00
R1170:Ccdc88b	UTSW	19	6853213	missense	probably damaging	1.00
R1363:Ccdc88b	UTSW	19	6850371	missense	possibly damaging	0.55
R1471:Ccdc88b	UTSW	19	6854023	missense	probably benign
R1605:Ccdc88b	UTSW	19	6850469	missense	probably benign	0.06
R1752:Ccdc88b	UTSW	19	6853322	missense	probably benign	0.02
R1832:Ccdc88b	UTSW	19	6853532	nonsense	probably null
R1839:Ccdc88b	UTSW	19	6854109	splice site	probably benign
R1917:Ccdc88b	UTSW	19	6849226	missense	probably damaging	1.00
R2167:Ccdc88b	UTSW	19	6854084	missense	possibly damaging	0.52
R4012:Ccdc88b	UTSW	19	6848991	missense	probably damaging	0.98
R4350:Ccdc88b	UTSW	19	6850272	missense	probably damaging	0.97
R4427:Ccdc88b	UTSW	19	6850572	missense	probably damaging	0.99
R4676:Ccdc88b	UTSW	19	6853000	missense	probably benign	0.00
R4677:Ccdc88b	UTSW	19	6848268	missense	probably damaging	0.98
R4720:Ccdc88b	UTSW	19	6857715	missense	probably damaging	1.00
R4725:Ccdc88b	UTSW	19	6857113	missense	probably damaging	1.00
R4747:Ccdc88b	UTSW	19	6856141	missense	probably damaging	1.00
R5092:Ccdc88b	UTSW	19	6848232	missense	probably damaging	0.99
R5403:Ccdc88b	UTSW	19	6857740	missense	unknown
R5448:Ccdc88b	UTSW	19	6854580	missense	probably damaging	1.00
R5771:Ccdc88b	UTSW	19	6853835	missense	probably benign
R5783:Ccdc88b	UTSW	19	6853916	missense	probably benign	0.19
R5988:Ccdc88b	UTSW	19	6855980	missense	probably damaging	1.00
R6328:Ccdc88b	UTSW	19	6849038	missense	probably damaging	1.00
R6459:Ccdc88b	UTSW	19	6854878	missense	possibly damaging	0.92
R6773:Ccdc88b	UTSW	19	6849041	missense	possibly damaging	0.71
R7073:Ccdc88b	UTSW	19	6853962	missense	probably benign	0.34
R7707:Ccdc88b	UTSW	19	6857469	missense	probably benign	0.23
R7810:Ccdc88b	UTSW	19	6849086	missense	probably benign
R8298:Ccdc88b	UTSW	19	6850281	missense	probably damaging	0.97
R8349:Ccdc88b	UTSW	19	6855845	missense	probably damaging	1.00
R8449:Ccdc88b	UTSW	19	6855845	missense	probably damaging	1.00
R8481:Ccdc88b	UTSW	19	6854532	missense	probably damaging	1.00
R8506:Ccdc88b	UTSW	19	6847322	missense	probably damaging	0.99
R8714:Ccdc88b	UTSW	19	6855845	missense	probably damaging	1.00
R8715:Ccdc88b	UTSW	19	6855845	missense	probably damaging	1.00
R8717:Ccdc88b	UTSW	19	6855845	missense	probably damaging	1.00
R8753:Ccdc88b	UTSW	19	6855845	missense	probably damaging	1.00
R8754:Ccdc88b	UTSW	19	6855845	missense	probably damaging	1.00
R8774:Ccdc88b	UTSW	19	6847722	missense	probably damaging	1.00
R8774-TAIL:Ccdc88b	UTSW	19	6847722	missense	probably damaging	1.00
R8787:Ccdc88b	UTSW	19	6847423	missense	probably damaging	1.00
R8896:Ccdc88b	UTSW	19	6853835	missense	probably benign
R9049:Ccdc88b	UTSW	19	6849074	missense	probably benign	0.37
R9100:Ccdc88b	UTSW	19	6855845	missense	probably damaging	1.00
R9113:Ccdc88b	UTSW	19	6855845	missense	probably damaging	1.00
R9197:Ccdc88b	UTSW	19	6855845	missense	probably damaging	1.00
R9198:Ccdc88b	UTSW	19	6853900	missense	possibly damaging	0.92
R9198:Ccdc88b	UTSW	19	6855845	missense	probably damaging	1.00
R9202:Ccdc88b	UTSW	19	6855845	missense	probably damaging	1.00
R9323:Ccdc88b	UTSW	19	6849107	missense	probably damaging	1.00
R9334:Ccdc88b	UTSW	19	6856173	missense	possibly damaging	0.50
R9385:Ccdc88b	UTSW	19	6856165	missense	probably benign	0.13
R9441:Ccdc88b	UTSW	19	6855845	missense	probably damaging	1.00
R9442:Ccdc88b	UTSW	19	6855845	missense	probably damaging	1.00
R9748:Ccdc88b	UTSW	19	6854093	missense	probably damaging	1.00
R9766:Ccdc88b	UTSW	19	6855728	missense	probably damaging	1.00
X0021:Ccdc88b	UTSW	19	6853831	missense	probably benign
Z1176:Ccdc88b	UTSW	19	6849740	missense	possibly damaging	0.83

Posted On

2013-03-25