Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01637:Ccdc88b'

93067

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc88b

Ensembl Gene

ENSMUSG00000047810

Gene Name

coiled-coil domain containing 88B

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01637

Quality Score

Status

Chromosome

Chromosomal Location

6844623-6858211 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6846710 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1392 (T1392A)

Ref Sequence

ENSEMBL: ENSMUSP00000109067 (fasta)

Gene Model

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

AlphaFold

Q4QRL3

Predicted Effect

probably benign
Transcript: ENSMUST00000113440
AA Change: T1392A

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000109067
Gene: ENSMUSG00000047810
AA Change: T1392A

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	T	7: 28,904,684	I384N	probably damaging	Het
Adsl	G	T	15: 80,948,700	Q51H	probably null	Het
Apcdd1	A	G	18: 62,937,286	E208G	probably damaging	Het
Arrdc4	G	A	7: 68,744,832	R155*	probably null	Het
Atp9b	T	C	18: 80,756,455	E823G	probably benign	Het
Bmp1	A	G	14: 70,492,461	W468R	probably damaging	Het
C6	A	G	15: 4,759,917	I281M	possibly damaging	Het
Dhx34	G	T	7: 16,205,473	S665Y	probably damaging	Het
Dock1	A	T	7: 135,137,813		probably null	Het
Dpp7	T	C	2: 25,354,613	N252S	probably benign	Het
Dyrk2	A	G	10: 118,860,507	V282A	probably damaging	Het
Edrf1	T	C	7: 133,650,525	L401P	probably damaging	Het
Epc1	A	G	18: 6,439,724	V150A	probably benign	Het
Fam170a	A	T	18: 50,281,667	M127L	possibly damaging	Het
Fam19a3	C	T	3: 104,773,079	V75M	probably damaging	Het
Gabrg1	T	A	5: 70,777,205	T277S	probably damaging	Het
Galntl5	T	C	5: 25,189,825		probably benign	Het
Gbp2b	A	G	3: 142,598,312	N56S	probably damaging	Het
Gfm2	T	A	13: 97,150,409	V172E	probably damaging	Het
Gm10419	T	C	5: 108,372,358		probably benign	Het
Gm7293	A	G	9: 51,623,606		noncoding transcript	Het
Gstm3	T	C	3: 107,967,633	E101G	probably damaging	Het
Ifnlr1	T	C	4: 135,686,545	W2R	possibly damaging	Het
Ighv13-1	A	T	12: 114,267,733		probably benign	Het
Ighv7-1	T	A	12: 113,896,503	I90F	possibly damaging	Het
Itga2b	A	G	11: 102,455,583	L1009P	probably damaging	Het
Kif1a	A	G	1: 93,039,853	V1112A	possibly damaging	Het
Kif5a	A	T	10: 127,245,368	D232E	possibly damaging	Het
Klb	G	A	5: 65,375,679		probably null	Het
Lrriq1	G	A	10: 103,215,628	A421V	probably benign	Het
Mdga1	G	A	17: 29,839,871	R721C	probably damaging	Het
Mrpl48	G	T	7: 100,550,532		probably benign	Het
Myo18b	T	A	5: 112,840,629	R1030S	possibly damaging	Het
Nf1	T	A	11: 79,547,120	H2101Q	probably damaging	Het
Nlrp3	C	A	11: 59,549,378	L594I	probably damaging	Het
Notch2	C	T	3: 98,146,060	T2013I	probably damaging	Het
Olfr1018	A	T	2: 85,822,988	T6S	probably benign	Het
Olfr131	G	A	17: 38,082,103	L292F	possibly damaging	Het
Olfr593	C	A	7: 103,212,177	R95S	probably benign	Het
Olfr812	A	G	10: 129,842,610	L144P	probably benign	Het
Olfr845	T	C	9: 19,338,964	F168S	probably damaging	Het
Panx3	T	C	9: 37,664,056	D170G	probably damaging	Het
Pclo	A	G	5: 14,540,034	S783G	unknown	Het
Pde3b	T	A	7: 114,526,901	L790*	probably null	Het
Pik3r2	T	C	8: 70,772,348		probably benign	Het
Rassf4	A	G	6: 116,641,690	F211L	probably damaging	Het
Rbl2	C	T	8: 91,106,438	P666S	probably benign	Het
Rnf123	A	G	9: 108,058,238	F979L	probably damaging	Het
Rock2	T	A	12: 16,965,171	D788E	probably benign	Het
Serpina3b	A	G	12: 104,132,957	T244A	probably benign	Het
Setd1b	T	C	5: 123,148,513	S541P	unknown	Het
Slc12a4	T	C	8: 105,960,707	D60G	possibly damaging	Het
Stac2	T	C	11: 98,041,354	E241G	probably benign	Het
Tas2r115	A	G	6: 132,737,629	Y120H	probably damaging	Het
Tmtc2	A	T	10: 105,370,085	F450I	probably benign	Het
Txnl1	A	T	18: 63,674,191	I198N	probably damaging	Het
Ubr2	A	T	17: 46,956,654	M1049K	probably damaging	Het
Ugt2b5	T	C	5: 87,139,900	E136G	probably benign	Het
Unc13b	C	T	4: 43,241,066	T3623I	probably damaging	Het
Usp13	T	A	3: 32,919,064	S797T	probably benign	Het
Vmn1r173	A	T	7: 23,702,948	T203S	probably damaging	Het
Vwf	T	A	6: 125,645,736	I1718N	probably damaging	Het
Zfr	A	G	15: 12,159,646	H676R	probably benign	Het

Other mutations in Ccdc88b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01347:Ccdc88b	APN	19	6845086	missense	probably damaging	1.00
IGL02201:Ccdc88b	APN	19	6846631	missense	probably damaging	1.00
IGL02260:Ccdc88b	APN	19	6855349	splice site	probably benign
IGL02276:Ccdc88b	APN	19	6856107	critical splice donor site	probably null
IGL02412:Ccdc88b	APN	19	6846644	missense	probably damaging	1.00
IGL02420:Ccdc88b	APN	19	6856949	missense	probably damaging	1.00
IGL02990:Ccdc88b	APN	19	6847409	missense	probably damaging	1.00
R0031:Ccdc88b	UTSW	19	6853783	missense	possibly damaging	0.93
R0544:Ccdc88b	UTSW	19	6857266	missense	probably damaging	1.00
R0727:Ccdc88b	UTSW	19	6854214	missense	probably benign
R0920:Ccdc88b	UTSW	19	6846649	missense	probably benign
R0975:Ccdc88b	UTSW	19	6846625	missense	probably damaging	1.00
R1170:Ccdc88b	UTSW	19	6853213	missense	probably damaging	1.00
R1363:Ccdc88b	UTSW	19	6850371	missense	possibly damaging	0.55
R1471:Ccdc88b	UTSW	19	6854023	missense	probably benign
R1605:Ccdc88b	UTSW	19	6850469	missense	probably benign	0.06
R1752:Ccdc88b	UTSW	19	6853322	missense	probably benign	0.02
R1832:Ccdc88b	UTSW	19	6853532	nonsense	probably null
R1839:Ccdc88b	UTSW	19	6854109	splice site	probably benign
R1917:Ccdc88b	UTSW	19	6849226	missense	probably damaging	1.00
R2167:Ccdc88b	UTSW	19	6854084	missense	possibly damaging	0.52
R4012:Ccdc88b	UTSW	19	6848991	missense	probably damaging	0.98
R4350:Ccdc88b	UTSW	19	6850272	missense	probably damaging	0.97
R4427:Ccdc88b	UTSW	19	6850572	missense	probably damaging	0.99
R4676:Ccdc88b	UTSW	19	6853000	missense	probably benign	0.00
R4677:Ccdc88b	UTSW	19	6848268	missense	probably damaging	0.98
R4720:Ccdc88b	UTSW	19	6857715	missense	probably damaging	1.00
R4725:Ccdc88b	UTSW	19	6857113	missense	probably damaging	1.00
R4747:Ccdc88b	UTSW	19	6856141	missense	probably damaging	1.00
R5092:Ccdc88b	UTSW	19	6848232	missense	probably damaging	0.99
R5403:Ccdc88b	UTSW	19	6857740	missense	unknown
R5448:Ccdc88b	UTSW	19	6854580	missense	probably damaging	1.00
R5771:Ccdc88b	UTSW	19	6853835	missense	probably benign
R5783:Ccdc88b	UTSW	19	6853916	missense	probably benign	0.19
R5988:Ccdc88b	UTSW	19	6855980	missense	probably damaging	1.00
R6328:Ccdc88b	UTSW	19	6849038	missense	probably damaging	1.00
R6459:Ccdc88b	UTSW	19	6854878	missense	possibly damaging	0.92
R6773:Ccdc88b	UTSW	19	6849041	missense	possibly damaging	0.71
R7073:Ccdc88b	UTSW	19	6853962	missense	probably benign	0.34
R7707:Ccdc88b	UTSW	19	6857469	missense	probably benign	0.23
R7810:Ccdc88b	UTSW	19	6849086	missense	probably benign
R8298:Ccdc88b	UTSW	19	6850281	missense	probably damaging	0.97
R8349:Ccdc88b	UTSW	19	6855845	missense	probably damaging	1.00
R8449:Ccdc88b	UTSW	19	6855845	missense	probably damaging	1.00
R8481:Ccdc88b	UTSW	19	6854532	missense	probably damaging	1.00
R8506:Ccdc88b	UTSW	19	6847322	missense	probably damaging	0.99
R8714:Ccdc88b	UTSW	19	6855845	missense	probably damaging	1.00
R8715:Ccdc88b	UTSW	19	6855845	missense	probably damaging	1.00
R8717:Ccdc88b	UTSW	19	6855845	missense	probably damaging	1.00
R8753:Ccdc88b	UTSW	19	6855845	missense	probably damaging	1.00
R8754:Ccdc88b	UTSW	19	6855845	missense	probably damaging	1.00
R8774:Ccdc88b	UTSW	19	6847722	missense	probably damaging	1.00
R8774-TAIL:Ccdc88b	UTSW	19	6847722	missense	probably damaging	1.00
R8787:Ccdc88b	UTSW	19	6847423	missense	probably damaging	1.00
R8896:Ccdc88b	UTSW	19	6853835	missense	probably benign
R9049:Ccdc88b	UTSW	19	6849074	missense	probably benign	0.37
R9100:Ccdc88b	UTSW	19	6855845	missense	probably damaging	1.00
R9113:Ccdc88b	UTSW	19	6855845	missense	probably damaging	1.00
R9197:Ccdc88b	UTSW	19	6855845	missense	probably damaging	1.00
R9198:Ccdc88b	UTSW	19	6853900	missense	possibly damaging	0.92
R9198:Ccdc88b	UTSW	19	6855845	missense	probably damaging	1.00
R9202:Ccdc88b	UTSW	19	6855845	missense	probably damaging	1.00
R9323:Ccdc88b	UTSW	19	6849107	missense	probably damaging	1.00
R9334:Ccdc88b	UTSW	19	6856173	missense	possibly damaging	0.50
R9385:Ccdc88b	UTSW	19	6856165	missense	probably benign	0.13
X0021:Ccdc88b	UTSW	19	6853831	missense	probably benign
Z1176:Ccdc88b	UTSW	19	6849740	missense	possibly damaging	0.83

Posted On

2013-12-09