Mutagenetix > Incidental Mutation

Incidental Mutation 'R9442:Ccdc88b'

713712

Institutional Source

Beutler Lab

Gene Symbol

Ccdc88b

Ensembl Gene

ENSMUSG00000047810

Gene Name

coiled-coil domain containing 88B

Synonyms

2610041P08Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9442 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6821991-6835579 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6833213 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 278 (E278G)

Ref Sequence

ENSEMBL: ENSMUSP00000109067 (fasta)

Gene Model

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

AlphaFold

Q4QRL3

Predicted Effect

probably damaging
Transcript: ENSMUST00000113440
AA Change: E278G

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

SMART Domains

Protein: ENSMUSP00000109067
Gene: ENSMUSG00000047810
AA Change: E278G

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

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (44/44)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	A	17: 48,347,580 (GRCm39)	K241N	possibly damaging	Het
Adam5	A	T	8: 25,296,510 (GRCm39)	S312R	probably damaging	Het
Atg9a	C	T	1: 75,163,086 (GRCm39)	C338Y	possibly damaging	Het
Cage1	T	C	13: 38,196,447 (GRCm39)	E749G	possibly damaging	Het
Catspere2	C	A	1: 177,931,275 (GRCm39)	T398K	unknown	Het
Ccndbp1	T	C	2: 120,839,013 (GRCm39)	V8A	probably benign	Het
Cenpt	T	C	8: 106,575,418 (GRCm39)	D228G	probably benign	Het
Cfap57	A	G	4: 118,463,731 (GRCm39)		probably null	Het
Cyp4a32	T	A	4: 115,468,422 (GRCm39)	N301K	probably benign	Het
Epha6	T	C	16: 60,025,850 (GRCm39)	T531A	probably benign	Het
Gmeb1	A	T	4: 131,962,156 (GRCm39)	C168S	probably damaging	Het
H2-DMa	G	A	17: 34,357,132 (GRCm39)	R210H	possibly damaging	Het
Ighv1-7	T	G	12: 114,502,198 (GRCm39)	T90P	probably damaging	Het
Kalrn	A	C	16: 33,916,249 (GRCm39)	M1R	probably null	Het
Kcnrg	CACAACAA	CACAA	14: 61,845,009 (GRCm39)		probably benign	Het
Krtap14	T	C	16: 88,622,865 (GRCm39)	D38G	possibly damaging	Het
Lrrc8e	A	G	8: 4,283,964 (GRCm39)	N63S	probably benign	Het
Map4k2	T	A	19: 6,392,814 (GRCm39)	L152Q	probably damaging	Het
Mcf2l	A	G	8: 13,023,048 (GRCm39)	D78G	possibly damaging	Het
Ms4a6c	T	C	19: 11,449,851 (GRCm39)	V81A	probably benign	Het
Mtnr1b	T	C	9: 15,785,660 (GRCm39)	T33A	probably benign	Het
Muc16	T	A	9: 18,566,624 (GRCm39)	Q1965L	unknown	Het
Nfatc2	A	C	2: 168,328,898 (GRCm39)		probably benign	Het
Nlrp9b	C	T	7: 19,779,707 (GRCm39)	T790I	possibly damaging	Het
Nol4	A	T	18: 22,902,899 (GRCm39)	C371S	probably damaging	Het
Ntn1	A	C	11: 68,148,485 (GRCm39)		probably benign	Het
Or14j3	A	G	17: 37,900,633 (GRCm39)	S204P	possibly damaging	Het
Orc1	T	C	4: 108,469,357 (GRCm39)	V727A	probably benign	Het
Phf20l1	C	T	15: 66,484,888 (GRCm39)	Q318*	probably null	Het
Psg18	A	T	7: 18,083,185 (GRCm39)	Y323*	probably null	Het
Ptk2b	T	C	14: 66,409,189 (GRCm39)	Y529C	probably damaging	Het
Rrm1	A	G	7: 102,108,598 (GRCm39)	Y374C	probably damaging	Het
Selp	T	A	1: 163,964,765 (GRCm39)	F476I	probably damaging	Het
Sema3b	A	G	9: 107,478,957 (GRCm39)		probably null	Het
Setdb2	T	G	14: 59,639,849 (GRCm39)	T665P	probably damaging	Het
Sorbs3	T	C	14: 70,424,387 (GRCm39)	Y515C	probably damaging	Het
St13	G	A	15: 81,272,575 (GRCm39)	P90S	possibly damaging	Het
Stag1	T	A	9: 100,836,306 (GRCm39)	I1197N	probably damaging	Het
Svs3a	A	G	2: 164,132,179 (GRCm39)	Y250C	probably damaging	Het
Ticam1	T	C	17: 56,577,428 (GRCm39)	I556V	probably benign	Het
Vmn1r180	A	G	7: 23,651,620 (GRCm39)		probably benign	Het
Xirp2	T	A	2: 67,342,235 (GRCm39)	L1492*	probably null	Het
Zfp438	A	G	18: 5,214,379 (GRCm39)	V193A	probably benign	Het
Zfp729b	A	G	13: 67,739,337 (GRCm39)	V976A	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
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
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'- CGAATTTCAGCCTCCAAGCC -3'
(R):5'- CCCAGAACGATTTTGTTGGGATC -3'

Sequencing Primer
(F):5'- TCCAAGCCCTGCACCTCG -3'
(R):5'- TGGAAGATGCTTCTTTGACCTTTGAC -3'

Posted On

2022-06-15