Mutagenetix > Incidental Mutation

Incidental Mutation 'R4427:Ccdc88b'

374417

Institutional Source

Beutler Lab

Gene Symbol

Ccdc88b

Ensembl Gene

ENSMUSG00000047810

Gene Name

coiled-coil domain containing 88B

Synonyms

2610041P08Rik

MMRRC Submission

041145-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4427 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6821991-6835579 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 6827940 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 878 (E878K)

Ref Sequence

ENSEMBL: ENSMUSP00000109067 (fasta)

Gene Model

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

AlphaFold

Q4QRL3

Predicted Effect

probably damaging
Transcript: ENSMUST00000113440
AA Change: E878K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109067
Gene: ENSMUSG00000047810
AA Change: E878K

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

0.1719

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

96% (48/50)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	T	7: 29,278,678 (GRCm39)		noncoding transcript	Het
A2ml1	T	C	6: 128,522,009 (GRCm39)	E1271G	probably benign	Het
Cfap119	A	G	7: 127,187,288 (GRCm39)		probably benign	Het
Crybg3	T	C	16: 59,363,562 (GRCm39)	K2441E	probably damaging	Het
Cryga	A	T	1: 65,139,775 (GRCm39)	I121N	probably damaging	Het
Dst	A	T	1: 34,220,541 (GRCm39)	Q2115L	probably benign	Het
Evi2	T	A	11: 79,407,182 (GRCm39)	Q131L	possibly damaging	Het
Exoc1	A	G	5: 76,711,110 (GRCm39)	I61V	probably benign	Het
Firrm	A	G	1: 163,781,853 (GRCm39)	V858A	probably benign	Het
Frem2	A	G	3: 53,446,583 (GRCm39)		probably null	Het
Gas2l1	A	G	11: 5,013,908 (GRCm39)	V184A	probably benign	Het
Gsto2	T	C	19: 47,860,212 (GRCm39)	S2P	possibly damaging	Het
Herc1	T	C	9: 66,403,287 (GRCm39)	L4402P	probably damaging	Het
Kcnd2	T	A	6: 21,216,896 (GRCm39)	I200N	probably damaging	Het
Klhl30	A	G	1: 91,281,426 (GRCm39)	D9G	probably damaging	Het
Ltf	C	A	9: 110,852,672 (GRCm39)	T178K	probably damaging	Het
Memo1	T	A	17: 74,509,302 (GRCm39)	Y239F	probably benign	Het
Ogdh	C	T	11: 6,305,421 (GRCm39)	T972I	probably benign	Het
Phactr4	T	C	4: 132,114,352 (GRCm39)	D24G	possibly damaging	Het
Pi4ka	C	T	16: 17,098,908 (GRCm39)	R1992H	probably damaging	Het
Poc1b	T	C	10: 98,991,001 (GRCm39)		probably null	Het
Ppp1r9b	A	T	11: 94,892,150 (GRCm39)	R188S	possibly damaging	Het
Pwwp2a	T	C	11: 43,573,344 (GRCm39)	V142A	possibly damaging	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rap1gap2	C	A	11: 74,298,148 (GRCm39)	A491S	possibly damaging	Het
Rcsd1	C	A	1: 165,483,464 (GRCm39)	V206L	probably damaging	Het
Rps6ka2	T	A	17: 7,566,804 (GRCm39)	D687E	possibly damaging	Het
Sgce	G	A	6: 4,691,459 (GRCm39)	A295V	probably damaging	Het
Siglec15	T	G	18: 78,086,836 (GRCm39)	E341A	possibly damaging	Het
Tcaim	T	C	9: 122,643,561 (GRCm39)	F87S	probably benign	Het
Thbs2	C	A	17: 14,900,597 (GRCm39)	V537L	probably benign	Het
Timd6	T	A	11: 46,475,247 (GRCm39)	F147L	probably benign	Het
Tmx3	T	A	18: 90,541,725 (GRCm39)	V158D	probably damaging	Het
Tpm1	A	G	9: 66,939,847 (GRCm39)		probably benign	Het
Trmt2a	A	G	16: 18,067,093 (GRCm39)		probably benign	Het
Ugcg	T	A	4: 59,219,555 (GRCm39)	F297L	probably benign	Het
Utp18	T	C	11: 93,757,264 (GRCm39)	N467D	probably damaging	Het
Vmn2r73	A	G	7: 85,506,981 (GRCm39)	F777S	probably damaging	Het
Vwc2	A	G	11: 11,104,235 (GRCm39)	T256A	probably damaging	Het
Zfp300	C	T	X: 20,949,405 (GRCm39)	V120I	possibly damaging	Het
Zfp982	A	T	4: 147,597,080 (GRCm39)	R146*	probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- CGGTACCTACCAGGAGAAAC -3'
(R):5'- ATCCTACAAAGCTGCTGGCAC -3'

Sequencing Primer
(F):5'- GAGAAACCTTAACACCCAGTCCTTC -3'
(R):5'- CAAGGCCTCATATTGAGCTTAGGC -3'

Posted On

2016-03-11