Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02260:Ccdc88b'

286729

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc88b

Ensembl Gene

ENSMUSG00000047810

Gene Name

coiled-coil domain containing 88B

Synonyms

2610041P08Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02260

Quality Score

Status

Chromosome

Chromosomal Location

6821991-6835579 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 6832717 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000109067 (fasta)

Gene Model

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

AlphaFold

Q4QRL3

Predicted Effect

probably benign
Transcript: ENSMUST00000113440

SMART Domains

Protein: ENSMUSP00000109067
Gene: ENSMUSG00000047810

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

Coding Region Coverage

Validation Efficiency

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	C	T	17: 57,754,891 (GRCm39)	A663V	probably benign	Het
Atg2b	A	T	12: 105,602,699 (GRCm39)		probably benign	Het
B4galt6	T	C	18: 20,833,804 (GRCm39)	I194V	probably benign	Het
Caprin1	T	C	2: 103,609,714 (GRCm39)	Y188C	probably damaging	Het
Ccdc85a	A	G	11: 28,526,672 (GRCm39)	F284S	possibly damaging	Het
Cox18	C	T	5: 90,365,384 (GRCm39)	V272I	possibly damaging	Het
Dars1	A	T	1: 128,299,898 (GRCm39)	M362K	probably benign	Het
Ddi1	A	T	9: 6,265,760 (GRCm39)	M203K	probably benign	Het
Dlg4	G	A	11: 69,933,093 (GRCm39)	G500R	probably damaging	Het
Ebf3	G	A	7: 136,807,919 (GRCm39)	P375S	probably damaging	Het
Eif5b	T	A	1: 38,084,537 (GRCm39)	L842M	possibly damaging	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Gm5581	T	C	6: 131,144,909 (GRCm39)		noncoding transcript	Het
Mapk10	A	T	5: 103,186,534 (GRCm39)	D29E	probably benign	Het
Mib2	C	T	4: 155,745,628 (GRCm39)	R61H	probably damaging	Het
Mki67	A	G	7: 135,303,697 (GRCm39)	S724P	probably benign	Het
Mtor	T	C	4: 148,622,758 (GRCm39)	I1946T	probably damaging	Het
Myh14	A	G	7: 44,260,995 (GRCm39)	L1873P	probably damaging	Het
Myom1	C	T	17: 71,415,310 (GRCm39)	Q1226*	probably null	Het
Neb	A	G	2: 52,095,668 (GRCm39)	L4858P	probably damaging	Het
Or51f5	A	T	7: 102,424,114 (GRCm39)	I128F	probably damaging	Het
Or5m9b	C	A	2: 85,905,816 (GRCm39)	T244K	possibly damaging	Het
Or5p76	T	C	7: 108,122,492 (GRCm39)	I222V	probably benign	Het
Pcdhb14	C	T	18: 37,583,086 (GRCm39)	H731Y	probably benign	Het
Prdm16	T	C	4: 154,412,744 (GRCm39)	N1087S	probably benign	Het
Prdm2	C	T	4: 142,861,157 (GRCm39)	G711D	probably damaging	Het
Proser1	G	A	3: 53,386,365 (GRCm39)	G749D	probably damaging	Het
Ptch1	A	T	13: 63,713,166 (GRCm39)		probably benign	Het
Pus10	A	T	11: 23,657,548 (GRCm39)	K233*	probably null	Het
Rasa2	A	G	9: 96,426,372 (GRCm39)	Y825H	probably benign	Het
Tbcd	T	C	11: 121,494,104 (GRCm39)	F969S	probably damaging	Het
Tbp	T	A	17: 15,724,878 (GRCm39)	S133T	probably damaging	Het
Tnks	C	T	8: 35,310,137 (GRCm39)	G1062D	probably damaging	Het
Tnrc6b	T	A	15: 80,764,372 (GRCm39)	S625T	probably damaging	Het
Triobp	T	C	15: 78,850,562 (GRCm39)	S239P	probably benign	Het
Ubiad1	T	C	4: 148,528,564 (GRCm39)	D115G	probably benign	Het
Uckl1	A	G	2: 181,211,381 (GRCm39)	S483P	probably damaging	Het
Vill	A	G	9: 118,887,509 (GRCm39)	D91G	probably benign	Het
Wdr62	C	A	7: 29,970,207 (GRCm39)	C200F	probably damaging	Het
Zfp341	G	A	2: 154,483,969 (GRCm39)	C586Y	possibly damaging	Het
Zfp687	G	A	3: 94,918,575 (GRCm39)	T399I	possibly damaging	Het
Zp1	G	T	19: 10,894,078 (GRCm39)		probably benign	Het
Zzz3	T	A	3: 152,157,720 (GRCm39)	D263E	probably benign	Het

Other mutations in Ccdc88b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01347:Ccdc88b	APN	19	6,822,454 (GRCm39)	missense	probably damaging	1.00
IGL01637:Ccdc88b	APN	19	6,824,078 (GRCm39)	missense	probably benign	0.13
IGL02201:Ccdc88b	APN	19	6,823,999 (GRCm39)	missense	probably damaging	1.00
IGL02276:Ccdc88b	APN	19	6,833,475 (GRCm39)	critical splice donor site	probably null
IGL02412:Ccdc88b	APN	19	6,824,012 (GRCm39)	missense	probably damaging	1.00
IGL02420:Ccdc88b	APN	19	6,834,317 (GRCm39)	missense	probably damaging	1.00
IGL02990:Ccdc88b	APN	19	6,824,777 (GRCm39)	missense	probably damaging	1.00
R0031:Ccdc88b	UTSW	19	6,831,151 (GRCm39)	missense	possibly damaging	0.93
R0544:Ccdc88b	UTSW	19	6,834,634 (GRCm39)	missense	probably damaging	1.00
R0727:Ccdc88b	UTSW	19	6,831,582 (GRCm39)	missense	probably benign
R0920:Ccdc88b	UTSW	19	6,824,017 (GRCm39)	missense	probably benign
R0975:Ccdc88b	UTSW	19	6,823,993 (GRCm39)	missense	probably damaging	1.00
R1170:Ccdc88b	UTSW	19	6,830,581 (GRCm39)	missense	probably damaging	1.00
R1363:Ccdc88b	UTSW	19	6,827,739 (GRCm39)	missense	possibly damaging	0.55
R1471:Ccdc88b	UTSW	19	6,831,391 (GRCm39)	missense	probably benign
R1605:Ccdc88b	UTSW	19	6,827,837 (GRCm39)	missense	probably benign	0.06
R1752:Ccdc88b	UTSW	19	6,830,690 (GRCm39)	missense	probably benign	0.02
R1832:Ccdc88b	UTSW	19	6,830,900 (GRCm39)	nonsense	probably null
R1839:Ccdc88b	UTSW	19	6,831,477 (GRCm39)	splice site	probably benign
R1917:Ccdc88b	UTSW	19	6,826,594 (GRCm39)	missense	probably damaging	1.00
R2167:Ccdc88b	UTSW	19	6,831,452 (GRCm39)	missense	possibly damaging	0.52
R4012:Ccdc88b	UTSW	19	6,826,359 (GRCm39)	missense	probably damaging	0.98
R4350:Ccdc88b	UTSW	19	6,827,640 (GRCm39)	missense	probably damaging	0.97
R4427:Ccdc88b	UTSW	19	6,827,940 (GRCm39)	missense	probably damaging	0.99
R4676:Ccdc88b	UTSW	19	6,830,368 (GRCm39)	missense	probably benign	0.00
R4677:Ccdc88b	UTSW	19	6,825,636 (GRCm39)	missense	probably damaging	0.98
R4720:Ccdc88b	UTSW	19	6,835,083 (GRCm39)	missense	probably damaging	1.00
R4725:Ccdc88b	UTSW	19	6,834,481 (GRCm39)	missense	probably damaging	1.00
R4747:Ccdc88b	UTSW	19	6,833,509 (GRCm39)	missense	probably damaging	1.00
R5092:Ccdc88b	UTSW	19	6,825,600 (GRCm39)	missense	probably damaging	0.99
R5403:Ccdc88b	UTSW	19	6,835,108 (GRCm39)	missense	unknown
R5448:Ccdc88b	UTSW	19	6,831,948 (GRCm39)	missense	probably damaging	1.00
R5771:Ccdc88b	UTSW	19	6,831,203 (GRCm39)	missense	probably benign
R5783:Ccdc88b	UTSW	19	6,831,284 (GRCm39)	missense	probably benign	0.19
R5988:Ccdc88b	UTSW	19	6,833,348 (GRCm39)	missense	probably damaging	1.00
R6328:Ccdc88b	UTSW	19	6,826,406 (GRCm39)	missense	probably damaging	1.00
R6459:Ccdc88b	UTSW	19	6,832,246 (GRCm39)	missense	possibly damaging	0.92
R6773:Ccdc88b	UTSW	19	6,826,409 (GRCm39)	missense	possibly damaging	0.71
R7073:Ccdc88b	UTSW	19	6,831,330 (GRCm39)	missense	probably benign	0.34
R7707:Ccdc88b	UTSW	19	6,834,837 (GRCm39)	missense	probably benign	0.23
R7810:Ccdc88b	UTSW	19	6,826,454 (GRCm39)	missense	probably benign
R8298:Ccdc88b	UTSW	19	6,827,649 (GRCm39)	missense	probably damaging	0.97
R8349:Ccdc88b	UTSW	19	6,833,213 (GRCm39)	missense	probably damaging	1.00
R8449:Ccdc88b	UTSW	19	6,833,213 (GRCm39)	missense	probably damaging	1.00
R8481:Ccdc88b	UTSW	19	6,831,900 (GRCm39)	missense	probably damaging	1.00
R8506:Ccdc88b	UTSW	19	6,824,690 (GRCm39)	missense	probably damaging	0.99
R8714:Ccdc88b	UTSW	19	6,833,213 (GRCm39)	missense	probably damaging	1.00
R8715:Ccdc88b	UTSW	19	6,833,213 (GRCm39)	missense	probably damaging	1.00
R8717:Ccdc88b	UTSW	19	6,833,213 (GRCm39)	missense	probably damaging	1.00
R8753:Ccdc88b	UTSW	19	6,833,213 (GRCm39)	missense	probably damaging	1.00
R8754:Ccdc88b	UTSW	19	6,833,213 (GRCm39)	missense	probably damaging	1.00
R8774:Ccdc88b	UTSW	19	6,825,090 (GRCm39)	missense	probably damaging	1.00
R8774-TAIL:Ccdc88b	UTSW	19	6,825,090 (GRCm39)	missense	probably damaging	1.00
R8787:Ccdc88b	UTSW	19	6,824,791 (GRCm39)	missense	probably damaging	1.00
R8896:Ccdc88b	UTSW	19	6,831,203 (GRCm39)	missense	probably benign
R9049:Ccdc88b	UTSW	19	6,826,442 (GRCm39)	missense	probably benign	0.37
R9100:Ccdc88b	UTSW	19	6,833,213 (GRCm39)	missense	probably damaging	1.00
R9113:Ccdc88b	UTSW	19	6,833,213 (GRCm39)	missense	probably damaging	1.00
R9197:Ccdc88b	UTSW	19	6,833,213 (GRCm39)	missense	probably damaging	1.00
R9198:Ccdc88b	UTSW	19	6,833,213 (GRCm39)	missense	probably damaging	1.00
R9198:Ccdc88b	UTSW	19	6,831,268 (GRCm39)	missense	possibly damaging	0.92
R9202:Ccdc88b	UTSW	19	6,833,213 (GRCm39)	missense	probably damaging	1.00
R9323:Ccdc88b	UTSW	19	6,826,475 (GRCm39)	missense	probably damaging	1.00
R9334:Ccdc88b	UTSW	19	6,833,541 (GRCm39)	missense	possibly damaging	0.50
R9385:Ccdc88b	UTSW	19	6,833,533 (GRCm39)	missense	probably benign	0.13
R9441:Ccdc88b	UTSW	19	6,833,213 (GRCm39)	missense	probably damaging	1.00
R9442:Ccdc88b	UTSW	19	6,833,213 (GRCm39)	missense	probably damaging	1.00
R9748:Ccdc88b	UTSW	19	6,831,461 (GRCm39)	missense	probably damaging	1.00
R9766:Ccdc88b	UTSW	19	6,833,096 (GRCm39)	missense	probably damaging	1.00
X0021:Ccdc88b	UTSW	19	6,831,199 (GRCm39)	missense	probably benign
Z1176:Ccdc88b	UTSW	19	6,827,108 (GRCm39)	missense	possibly damaging	0.83

Posted On

2015-04-16