Mutagenetix > Incidental Mutation

Incidental Mutation 'R9100:Ccdc88b'

691658

Institutional Source

Beutler Lab

Gene Symbol

Ccdc88b

Ensembl Gene

ENSMUSG00000047810

Gene Name

coiled-coil domain containing 88B

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9100 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6844623-6858211 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6855845 bp (GRCm38)

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

96% (75/78)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700023F06Rik	T	C	11: 103,200,067	T151A	probably benign	Het
4932438A13Rik	A	G	3: 37,044,758	K1256R		Het
Abcc4	A	G	14: 118,616,388	V444A	possibly damaging	Het
Add1	T	A	5: 34,613,278		probably benign	Het
Adgrg3	A	G	8: 95,036,263		probably benign	Het
Adgrl3	A	C	5: 81,694,452	Q809P	possibly damaging	Het
Ankmy2	T	C	12: 36,186,807	C205R	probably damaging	Het
Atp6v1b2	A	G	8: 69,088,824	N11S		Het
B3gnt6	T	A	7: 98,194,751	M1L	not run	Het
Cdca8	T	C	4: 124,936,445	T45A	probably benign	Het
Ces2b	C	A	8: 104,831,589		probably benign	Het
Clip4	G	A	17: 71,810,889	G310R	probably damaging	Het
Cmklr1	G	C	5: 113,613,982	H319Q	probably benign	Het
Cnot3	A	G	7: 3,658,193	D567G	probably benign	Het
Cnot6l	T	C	5: 96,083,016	D364G	probably damaging	Het
Cpped1	A	G	16: 11,828,555	V111A		Het
Cyp11b2	T	C	15: 74,851,146	K468E	probably damaging	Het
Dpp4	T	G	2: 62,374,389	T245P	possibly damaging	Het
Fat2	A	G	11: 55,262,521	W3622R	probably damaging	Het
Fat4	A	C	3: 39,010,654	K4920Q		Het
Frmpd2	A	G	14: 33,530,450	I656M	probably benign	Het
Gck	A	G	11: 5,906,516	Y214H	probably damaging	Het
Gde1	C	T	7: 118,695,082	R166H	probably benign	Het
Gdf7	A	T	12: 8,298,652	F215Y	unknown	Het
Gdpgp1	A	G	7: 80,238,534	I104M	probably benign	Het
Gldc	A	G	19: 30,099,914	S953P	possibly damaging	Het
Gm13089	T	G	4: 143,699,157	N72T	probably benign	Het
Gm5483	T	A	16: 36,187,915	M57K	possibly damaging	Het
Golga3	C	T	5: 110,189,678	H411Y	probably benign	Het
Gpn1	G	T	5: 31,498,396	R101I	probably damaging	Het
Itgb5	T	A	16: 33,920,181	S554T	possibly damaging	Het
Klhl1	G	A	14: 96,346,928	L289F	probably damaging	Het
Klhl13	C	T	X: 23,247,494	R95Q	probably benign	Het
Kmt2d	G	C	15: 98,849,951	T3164R	unknown	Het
Knl1	T	C	2: 119,068,988	V390A	probably benign	Het
Krtap5-2	GCCACAGCCTCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCCCCACAGGAACTACA	GCCACAGCCCCCACAGGAACTACA	7: 142,175,099		probably benign	Het
Lamtor4	G	A	5: 138,256,333		probably benign	Het
Lonrf1	AGGCGGCGGCGGCGG	AGGCGGCGGCGG	8: 36,248,765		probably benign	Het
Ltbp1	C	T	17: 75,315,107	L829F	probably benign	Het
Ltbp1	T	A	17: 75,315,108	L829H	probably damaging	Het
Mrgpra1	C	T	7: 47,334,984	E316K	probably damaging	Het
Muc16	T	A	9: 18,645,670	H3109L	unknown	Het
Nck1	T	C	9: 100,495,508	E368G	probably damaging	Het
Nox4	G	A	7: 87,376,240	R525Q	probably benign	Het
Nus1	A	T	10: 52,429,191		probably null	Het
Nxph2	T	C	2: 23,399,768	V44A	probably benign	Het
Olfr1029	A	G	2: 85,975,752	K170E	probably benign	Het
Olfr1161	T	C	2: 88,024,986	I88T	probably benign	Het
Olfr1277	A	G	2: 111,269,749	L206P	probably benign	Het
Olfr1305	A	G	2: 111,873,261	M198T	possibly damaging	Het
Olfr1427	G	T	19: 12,098,890	H250N	probably benign	Het
Olfr213	A	T	6: 116,541,029	N192I	possibly damaging	Het
Olfr390	A	G	11: 73,787,861	K308E	probably benign	Het
Otof	T	C	5: 30,382,352	D1039G	possibly damaging	Het
Parpbp	T	A	10: 88,133,107	Q159L	possibly damaging	Het
Per2	A	T	1: 91,423,742	L1014Q	possibly damaging	Het
Pik3ap1	C	G	19: 41,324,485		silent	Het
Pik3ca	A	G	3: 32,460,019	N885D	probably damaging	Het
Pip5k1c	T	C	10: 81,309,222	V299A	probably benign	Het
Polr3h	A	T	15: 81,922,516		probably benign	Het
Pramef6	T	A	4: 143,897,076	N176I	probably benign	Het
Pus3	C	A	9: 35,565,650	Q248K	probably benign	Het
Sectm1a	T	A	11: 121,069,743	Q82L	possibly damaging	Het
Sema3e	A	G	5: 14,232,194	Y448C	probably damaging	Het
Slc12a4	A	T	8: 105,949,142	S584T	probably benign	Het
Slc25a40	T	C	5: 8,449,613	F249L	probably benign	Het
St3gal6	T	A	16: 58,486,430	N79I		Het
Stxbp4	A	T	11: 90,535,494	I496K	possibly damaging	Het
Sulf1	A	G	1: 12,807,894	Y202C	probably damaging	Het
Swt1	A	G	1: 151,423,505		probably null	Het
Tdrd6	T	C	17: 43,625,414	Y1581C	possibly damaging	Het
Tenm4	G	C	7: 96,845,854	G1163A	probably damaging	Het
Tlr4	A	G	4: 66,840,281	E437G	probably benign	Het
Txnrd2	A	T	16: 18,437,565	H101L	probably damaging	Het
Uba3	A	T	6: 97,186,710	V306E	probably damaging	Het
Unc5b	T	C	10: 60,768,373	Q814R	probably damaging	Het
Vamp5	T	G	6: 72,370,321	E5A	possibly damaging	Het
Vmn1r69	T	A	7: 10,580,137	R222S	probably damaging	Het
Zfp507	G	A	7: 35,795,021	T199I	probably benign	Het
Zfyve19	T	G	2: 119,211,237	L95R	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
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
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
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'- AATTTCAGCCTCCAAGCCCTG -3'
(R):5'- CCAGAACGATTTTGTTGGGATCG -3'

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

Posted On

2021-12-30