Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02201:Ccdc88b'

284178

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 #

IGL02201

Quality Score

Status

Chromosome

Chromosomal Location

6821991-6835579 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6823999 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1418 (D1418V)

Ref Sequence

ENSEMBL: ENSMUSP00000109067 (fasta)

Gene Model

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

AlphaFold

Q4QRL3

Predicted Effect

probably damaging
Transcript: ENSMUST00000113440
AA Change: D1418V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109067
Gene: ENSMUSG00000047810
AA Change: D1418V

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl3	G	A	1: 78,676,870 (GRCm39)	G484R	probably damaging	Het
Adgrb3	A	G	1: 25,459,631 (GRCm39)		probably benign	Het
Akr1c14	A	G	13: 4,131,022 (GRCm39)	D238G	probably damaging	Het
Cnnm4	A	T	1: 36,511,831 (GRCm39)	K353M	probably damaging	Het
Col6a6	A	G	9: 105,658,194 (GRCm39)	F673L	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dyrk1a	A	G	16: 94,493,008 (GRCm39)	E747G	probably benign	Het
Eml5	T	A	12: 98,760,683 (GRCm39)		probably benign	Het
Ercc6l2	A	G	13: 64,000,783 (GRCm39)	N516D	probably benign	Het
Fbxl17	A	G	17: 63,806,024 (GRCm39)	L330P	probably damaging	Het
Fgr	A	T	4: 132,722,235 (GRCm39)	Y168F	probably damaging	Het
Frem2	T	G	3: 53,427,061 (GRCm39)	K2962N	probably benign	Het
Hdac4	G	T	1: 91,915,382 (GRCm39)		probably null	Het
Il1r1	A	T	1: 40,352,428 (GRCm39)	N533Y	probably damaging	Het
Kcnab2	T	C	4: 152,486,375 (GRCm39)		probably benign	Het
Knl1	C	T	2: 118,899,633 (GRCm39)	P445S	probably benign	Het
Lamb2	G	A	9: 108,364,741 (GRCm39)	C1165Y	probably damaging	Het
Nisch	C	T	14: 30,909,051 (GRCm39)		probably benign	Het
Or1i2	C	T	10: 78,448,104 (GRCm39)	V124M	probably damaging	Het
Or2m12	A	T	16: 19,105,212 (GRCm39)	S94T	probably benign	Het
Or8b40	A	G	9: 38,027,893 (GRCm39)	D267G	probably benign	Het
Or8h7	A	G	2: 86,721,420 (GRCm39)	L33P	probably damaging	Het
Pde3b	T	A	7: 114,133,843 (GRCm39)	M953K	probably damaging	Het
Pdzph1	A	G	17: 59,274,506 (GRCm39)		probably benign	Het
Plce1	T	C	19: 38,757,890 (GRCm39)		probably benign	Het
Prr23a3	G	T	9: 98,747,297 (GRCm39)	V84L	possibly damaging	Het
Psg26	A	G	7: 18,214,071 (GRCm39)	V197A	probably benign	Het
Ptpra	T	A	2: 30,336,389 (GRCm39)	C80S	possibly damaging	Het
Ripk4	A	T	16: 97,556,377 (GRCm39)	V122E	possibly damaging	Het
Scd2	A	G	19: 44,289,779 (GRCm39)	N258S	probably damaging	Het
Slc38a1	A	T	15: 96,476,679 (GRCm39)	V394E	probably damaging	Het
Slc7a15	A	G	12: 8,589,023 (GRCm39)	S175P	possibly damaging	Het
Tacc2	T	A	7: 130,227,942 (GRCm39)	D1542E	possibly damaging	Het
Trim67	G	T	8: 125,520,797 (GRCm39)	R53L	probably benign	Het
Urah	A	T	7: 140,415,576 (GRCm39)	T38S	probably damaging	Het
Vps13c	A	G	9: 67,874,418 (GRCm39)	S3362G	probably damaging	Het
Wwc1	T	C	11: 35,734,978 (GRCm39)		probably benign	Het
Zfyve28	T	C	5: 34,400,549 (GRCm39)	T50A	probably damaging	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
IGL02260:Ccdc88b	APN	19	6,832,717 (GRCm39)	splice site	probably benign
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