Mutagenetix > Incidental Mutation

Incidental Mutation 'R0920:Ccdc88b'

82839

Institutional Source

Beutler Lab

Gene Symbol

Ccdc88b

Ensembl Gene

ENSMUSG00000047810

Gene Name

coiled-coil domain containing 88B

Synonyms

2610041P08Rik

MMRRC Submission

039070-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0920 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6821991-6835579 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 6824017 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 1412 (A1412E)

Ref Sequence

ENSEMBL: ENSMUSP00000109067 (fasta)

Gene Model

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

AlphaFold

Q4QRL3

Predicted Effect

probably benign
Transcript: ENSMUST00000113440
AA Change: A1412E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109067
Gene: ENSMUSG00000047810
AA Change: A1412E

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

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.9%

Validation Efficiency

100% (37/37)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm2	T	C	4: 144,287,696 (GRCm39)		probably benign	Het
Adamts16	A	G	13: 70,911,680 (GRCm39)		probably benign	Het
Adgra3	A	G	5: 50,118,503 (GRCm39)	V1015A	probably benign	Het
Armc5	G	T	7: 127,839,491 (GRCm39)	A270S	probably damaging	Het
Cacng1	A	C	11: 107,596,682 (GRCm39)		probably benign	Het
Ccdc33	T	C	9: 57,940,955 (GRCm39)	D429G	probably damaging	Het
Cfap298	C	T	16: 90,724,267 (GRCm39)	E125K	probably damaging	Het
Clock	A	T	5: 76,378,167 (GRCm39)	S578T	possibly damaging	Het
Crp	T	C	1: 172,526,089 (GRCm39)	F58S	probably damaging	Het
Dlg5	T	A	14: 24,226,465 (GRCm39)	Q125L	probably damaging	Het
Eif3i	T	C	4: 129,489,050 (GRCm39)		probably benign	Het
Gucy1a2	A	C	9: 3,759,472 (GRCm39)	D426A	probably damaging	Het
Hpcal1	C	T	12: 17,841,098 (GRCm39)		probably benign	Het
Inf2	T	A	12: 112,576,721 (GRCm39)		probably benign	Het
Kdm7a	A	G	6: 39,128,256 (GRCm39)	L525P	probably damaging	Het
Kirrel3	A	T	9: 34,939,648 (GRCm39)	I152F	probably damaging	Het
Knl1	T	A	2: 118,900,309 (GRCm39)	I670K	probably benign	Het
Krt76	T	C	15: 101,800,874 (GRCm39)	T141A	possibly damaging	Het
Ldb3	T	C	14: 34,289,460 (GRCm39)	T249A	probably benign	Het
Magi3	A	T	3: 103,941,507 (GRCm39)		probably null	Het
Mfn1	A	G	3: 32,588,385 (GRCm39)		probably null	Het
Myb	G	T	10: 21,002,133 (GRCm39)	T736K	possibly damaging	Het
Myo5b	A	C	18: 74,758,712 (GRCm39)	K231T	probably benign	Het
Myt1l	T	A	12: 29,936,138 (GRCm39)	C909S	unknown	Het
Npas4	C	A	19: 5,036,344 (GRCm39)	E607*	probably null	Het
Nphp3	A	G	9: 103,909,106 (GRCm39)	N772S	probably benign	Het
Nup88	G	T	11: 70,847,146 (GRCm39)	P288Q	possibly damaging	Het
Or2l13	A	T	16: 19,305,680 (GRCm39)	I31F	probably benign	Het
Pknox1	C	A	17: 31,815,865 (GRCm39)	Q240K	probably damaging	Het
Plce1	A	C	19: 38,724,965 (GRCm39)	T1439P	probably damaging	Het
Ppp1r42	T	A	1: 10,069,750 (GRCm39)	N104I	probably damaging	Het
Prkar2a	T	A	9: 108,596,496 (GRCm39)		probably benign	Het
Stox2	C	T	8: 47,646,053 (GRCm39)	R469Q	probably damaging	Het
Syna	A	G	5: 134,587,956 (GRCm39)	V331A	probably benign	Het
Vmn1r58	A	T	7: 5,413,788 (GRCm39)	N147K	probably benign	Het
Zdhhc6	A	T	19: 55,300,133 (GRCm39)	L148H	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
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
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

Predicted Primers

PCR Primer
(F):5'- GACTCTCCAAAATGCTGAGTCCACC -3'
(R):5'- CTGCCTTGATGCTGATGGCTGC -3'

Sequencing Primer
(F):5'- TGCTGAGTCCACCCAATAATGG -3'
(R):5'- tcagagcagcagggcac -3'

Posted On

2013-11-08