Mutagenetix > Incidental Mutation

Incidental Mutation 'R4012:Ccdc88b'

311795

Institutional Source

Beutler Lab

Gene Symbol

Ccdc88b

Ensembl Gene

ENSMUSG00000047810

Gene Name

coiled-coil domain containing 88B

Synonyms

MMRRC Submission

040949-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4012 (G1)

Quality Score

188

Status

Validated

Chromosome

Chromosomal Location

6844623-6858211 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 6848991 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 1119 (R1119G)

Ref Sequence

ENSEMBL: ENSMUSP00000109067 (fasta)

Gene Model

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

AlphaFold

Q4QRL3

Predicted Effect

probably damaging
Transcript: ENSMUST00000113440
AA Change: R1119G

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109067
Gene: ENSMUSG00000047810
AA Change: R1119G

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

0.0911

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.0%

Validation Efficiency

100% (79/79)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	A	C	5: 5,478,955	L20R	probably damaging	Het
2210016F16Rik	T	A	13: 58,381,986	K271*	probably null	Het
9930021J03Rik	T	G	19: 29,743,590	K622N	probably damaging	Het
Adnp2	G	T	18: 80,130,821	F124L	probably benign	Het
Aicda	A	G	6: 122,559,490	K10E	probably benign	Het
Als2	A	G	1: 59,187,416	C910R	probably benign	Het
Ankrd11	T	A	8: 122,892,417	K1565N	probably damaging	Het
Apol7b	T	C	15: 77,424,709	D63G	probably damaging	Het
Arhgef4	T	C	1: 34,725,106	C1148R	possibly damaging	Het
Atg16l1	A	G	1: 87,766,907	D102G	probably damaging	Het
Babam2	T	C	5: 32,001,438	V244A	probably damaging	Het
Cars	G	A	7: 143,559,674	A668V	possibly damaging	Het
Ccdc185	T	A	1: 182,748,888	S79C	possibly damaging	Het
Cebpz	A	T	17: 78,924,467	V810E	probably damaging	Het
Cep120	T	C	18: 53,738,582	T73A	probably damaging	Het
Chat	C	A	14: 32,423,312	C380F	possibly damaging	Het
Cltc	T	C	11: 86,757,261	Q10R	probably benign	Het
Cst8	T	C	2: 148,804,702		probably benign	Het
Cts3	C	T	13: 61,568,054		probably null	Het
Cyp4a29	T	A	4: 115,248,510	D136E	probably benign	Het
Dmxl2	A	C	9: 54,379,013		probably null	Het
Dsg4	T	A	18: 20,451,862	V211E	possibly damaging	Het
Efcab5	C	T	11: 77,117,830	V957I	probably damaging	Het
Eif4g2	A	T	7: 111,074,151	L807Q	possibly damaging	Het
Epha4	A	G	1: 77,390,094		probably benign	Het
Epm2aip1	A	T	9: 111,272,390	I144F	probably benign	Het
Erbb4	C	T	1: 68,560,576	R114H	probably damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fam170a	C	T	18: 50,281,971	A228V	probably damaging	Het
Foxred1	A	T	9: 35,206,275	M254K	possibly damaging	Het
Gm1527	T	A	3: 28,898,820	C90S	probably benign	Het
Gm16286	A	G	18: 80,212,124	D211G	probably benign	Het
Gm8251	T	C	1: 44,060,969	D323G	possibly damaging	Het
Gpr137b	T	C	13: 13,359,362	T370A	probably benign	Het
Gtf2e2	A	G	8: 33,755,965		probably benign	Het
Hgsnat	A	T	8: 25,955,789	L359*	probably null	Het
Hhip	A	T	8: 79,992,594	C435S	probably damaging	Het
Hoxa13	T	C	6: 52,259,127	D310G	possibly damaging	Het
Hspa14	T	C	2: 3,512,638	Y18C	probably damaging	Het
Ighg1	A	G	12: 113,329,650	V140A	probably damaging	Het
Ighv1-58	A	T	12: 115,312,310	Y69*	probably null	Het
Inpp5j	A	G	11: 3,500,185	F615L	probably benign	Het
Kcna1	T	A	6: 126,642,910	Y149F	probably benign	Het
Kcnj6	A	T	16: 94,825,018		probably null	Het
Krtap4-1	G	T	11: 99,627,811	C124*	probably null	Het
Lama1	T	A	17: 67,812,373	L2615*	probably null	Het
Lcp2	A	T	11: 34,068,439	I72F	probably damaging	Het
Med1	T	A	11: 98,171,706	I189F	possibly damaging	Het
Meioc	C	T	11: 102,675,828	R757C	probably damaging	Het
Mtr	T	A	13: 12,189,397	H1171L	probably damaging	Het
Mtr	G	C	13: 12,189,398	H1171D	probably damaging	Het
Nlrc5	A	G	8: 94,475,992	Y240C	possibly damaging	Het
Nsun4	T	A	4: 116,051,062	H767L	possibly damaging	Het
Pcdha1	T	A	18: 36,931,136	N284K	probably benign	Het
Pcdhgb8	A	C	18: 37,763,361	S495R	probably benign	Het
Pramel1	T	A	4: 143,396,690	I79N	possibly damaging	Het
Prdm6	A	T	18: 53,540,318	E183D	possibly damaging	Het
Prex2	T	C	1: 11,184,516	F1125L	probably benign	Het
Prkg2	T	C	5: 98,979,815	I346V	possibly damaging	Het
Ptprz1	A	G	6: 23,002,585	D1558G	probably damaging	Het
Rab11fip3	GCTCGTCT	GCT	17: 26,068,028		probably null	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
S100a6	A	G	3: 90,614,201	D50G	probably damaging	Het
Shroom3	T	A	5: 92,948,483		probably benign	Het
Sipa1l1	G	A	12: 82,341,782	V261M	possibly damaging	Het
Slc5a4b	T	A	10: 76,074,992	I337F	probably damaging	Het
Smarcc1	A	G	9: 110,132,205	Y30C	possibly damaging	Het
Swap70	A	G	7: 110,281,305	K576E	possibly damaging	Het
Syt6	A	G	3: 103,625,493		probably benign	Het
Szt2	T	C	4: 118,383,900	I1726V	probably benign	Het
Tdgf1	C	T	9: 110,940,713	M169I	probably benign	Het
Thoc1	A	G	18: 9,987,651	K453E	possibly damaging	Het
Tmem38b	A	G	4: 53,854,409	I214V	probably benign	Het
Tonsl	A	T	15: 76,637,044	I354N	probably damaging	Het
Trappc9	T	C	15: 73,031,623	I303V	possibly damaging	Het
Trim66	A	G	7: 109,458,131	S1032P	probably damaging	Het
Tsc22d4	T	C	5: 137,758,328	V6A	probably benign	Het
Ubtd2	A	G	11: 32,499,260	K36E	probably benign	Het
Zkscan2	T	C	7: 123,498,660	E171G	possibly damaging	Het

Other mutations in Ccdc88b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01347:Ccdc88b	APN	19	6845086	missense	probably damaging	1.00
IGL01637:Ccdc88b	APN	19	6846710	missense	probably benign	0.13
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
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
R9441:Ccdc88b	UTSW	19	6855845	missense	probably damaging	1.00
R9442:Ccdc88b	UTSW	19	6855845	missense	probably damaging	1.00
R9748:Ccdc88b	UTSW	19	6854093	missense	probably damaging	1.00
R9766:Ccdc88b	UTSW	19	6855728	missense	probably damaging	1.00
X0021:Ccdc88b	UTSW	19	6853831	missense	probably benign
Z1176:Ccdc88b	UTSW	19	6849740	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- AAGTCTGACACCTCCTAAGCATG -3'
(R):5'- TCAGGAGCTGCATAGGAAGC -3'

Sequencing Primer
(F):5'- TGACACCTCCTAAGCATGAGCAC -3'
(R):5'- CTGCATAGGAAGCTGGGGGTG -3'

Posted On

2015-04-29