Mutagenetix > Incidental Mutation

Incidental Mutation 'R9748:Ccdc88b'

732366

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 #

R9748 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

6821991-6835579 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 6831461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 494 (L494M)

Ref Sequence

ENSEMBL: ENSMUSP00000109067 (fasta)

Gene Model

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

AlphaFold

Q4QRL3

Predicted Effect

probably damaging
Transcript: ENSMUST00000113440
AA Change: L494M

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

SMART Domains

Protein: ENSMUSP00000109067
Gene: ENSMUSG00000047810
AA Change: L494M

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: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.4%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	T	C	8: 25,301,068 (GRCm39)	T221A	probably benign	Het
Adamts12	G	A	15: 11,310,628 (GRCm39)	V962I	probably damaging	Het
Ano3	T	A	2: 110,488,640 (GRCm39)	I931F	probably damaging	Het
Anxa2r2	T	A	13: 120,488,200 (GRCm39)	E116D	possibly damaging	Het
Arih1	T	G	9: 59,300,581 (GRCm39)	D555A	possibly damaging	Het
Arsg	A	G	11: 109,381,452 (GRCm39)	D65G	probably damaging	Het
Atp8b3	G	A	10: 80,364,407 (GRCm39)	T567I	probably damaging	Het
Camkk2	G	C	5: 122,872,182 (GRCm39)	R575G	probably benign	Het
Ccdc168	G	T	1: 44,095,824 (GRCm39)	S1758Y	possibly damaging	Het
Cdc7	A	G	5: 107,123,405 (GRCm39)	K317E	possibly damaging	Het
Cfh	A	G	1: 140,090,687 (GRCm39)		probably null	Het
Cp	T	G	3: 20,043,335 (GRCm39)	V1041G	possibly damaging	Het
Cpeb3	A	G	19: 37,151,926 (GRCm39)	V150A	probably benign	Het
Cyp7a1	T	A	4: 6,269,216 (GRCm39)	E352V	probably damaging	Het
Dnah9	T	A	11: 65,976,290 (GRCm39)	H1253L	possibly damaging	Het
Dsg3	T	C	18: 20,672,761 (GRCm39)	S811P	possibly damaging	Het
Efcab5	A	T	11: 77,007,022 (GRCm39)	Y867*	probably null	Het
Eif2ak1	A	G	5: 143,819,031 (GRCm39)	T231A	probably damaging	Het
Eif2ak4	T	A	2: 118,247,730 (GRCm39)	C256S	probably benign	Het
Eif5b	A	G	1: 38,090,241 (GRCm39)	N1140S	possibly damaging	Het
Etnppl	A	T	3: 130,414,002 (GRCm39)	M34L	probably benign	Het
Fcrl5	T	G	3: 87,364,469 (GRCm39)	C549W	possibly damaging	Het
Fhod1	G	A	8: 106,058,323 (GRCm39)	A811V	probably damaging	Het
Flcn	C	T	11: 59,692,980 (GRCm39)	S198N	probably benign	Het
Fndc1	T	A	17: 7,991,929 (GRCm39)	H589L	unknown	Het
Gm8108	G	T	14: 4,110,527 (GRCm38)		probably benign	Het
Hcn4	C	T	9: 58,730,996 (GRCm39)	R68W	unknown	Het
Igfn1	A	G	1: 135,926,336 (GRCm39)	L38P	possibly damaging	Het
Il1r1	A	G	1: 40,349,496 (GRCm39)	T351A	probably benign	Het
Ildr2	T	C	1: 166,096,889 (GRCm39)	L36P	probably damaging	Het
Itgb1bp1	C	T	12: 21,324,876 (GRCm39)	C60Y	probably damaging	Het
Jrk	A	G	15: 74,579,225 (GRCm39)	L20P	probably damaging	Het
Kif5c	C	T	2: 49,584,859 (GRCm39)	A194V	probably damaging	Het
Lrp4	C	T	2: 91,316,116 (GRCm39)	L745F	probably damaging	Het
Ly9	A	T	1: 171,428,722 (GRCm39)	D299E	possibly damaging	Het
Mfsd1	C	T	3: 67,499,910 (GRCm39)	T185I	possibly damaging	Het
Mprip	A	G	11: 59,656,348 (GRCm39)	Y808C	probably damaging	Het
Mrps2	C	A	2: 28,359,594 (GRCm39)	H150Q	possibly damaging	Het
Mtcl3	A	T	10: 29,024,398 (GRCm39)	D438V	probably damaging	Het
Mturn	A	T	6: 54,665,989 (GRCm39)		probably null	Het
Myo5a	T	C	9: 75,091,965 (GRCm39)	S1205P	probably damaging	Het
Nckap5	G	A	1: 125,953,939 (GRCm39)	P871L	probably damaging	Het
Ndst3	T	A	3: 123,421,631 (GRCm39)	I401F	probably benign	Het
Nek4	G	A	14: 30,709,114 (GRCm39)	V723M	possibly damaging	Het
Nfe2l2	A	G	2: 75,506,667 (GRCm39)	S478P	probably damaging	Het
Nol6	T	C	4: 41,123,538 (GRCm39)	Y70C	probably damaging	Het
Nup88	T	C	11: 70,860,497 (GRCm39)	E94G	probably benign	Het
Oas1h	A	T	5: 121,005,088 (GRCm39)	N179Y	probably damaging	Het
Or1o11	T	G	17: 37,756,595 (GRCm39)	V61G	probably benign	Het
Or8b39	T	A	9: 37,996,353 (GRCm39)	S74T	probably benign	Het
Otof	T	C	5: 30,540,998 (GRCm39)	D847G	probably damaging	Het
Pak1	C	A	7: 97,547,842 (GRCm39)	D331E	possibly damaging	Het
Pkd1l3	T	C	8: 110,373,555 (GRCm39)	W1374R	probably benign	Het
Pkdrej	G	T	15: 85,704,871 (GRCm39)	T355K	possibly damaging	Het
Pramel27	A	G	4: 143,579,892 (GRCm39)	*492W	probably null	Het
Prkcd	A	T	14: 30,320,800 (GRCm39)	F607I	possibly damaging	Het
Prrc2c	A	G	1: 162,535,435 (GRCm39)	S775P	unknown	Het
Prss16	G	T	13: 22,192,504 (GRCm39)	H154N	possibly damaging	Het
Psme2b	T	C	11: 48,836,779 (GRCm39)	D56G	possibly damaging	Het
Rapsn	C	T	2: 90,875,823 (GRCm39)	P400L	probably damaging	Het
Rptn	A	G	3: 93,304,761 (GRCm39)	D698G	possibly damaging	Het
Rragc	T	C	4: 123,818,658 (GRCm39)	V291A	possibly damaging	Het
Rras2	A	G	7: 113,716,629 (GRCm39)		probably null	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Scyl2	A	C	10: 89,476,794 (GRCm39)	M777R	probably benign	Het
Serhl	G	T	15: 82,998,597 (GRCm39)	V235L	probably benign	Het
Sh2b3	T	C	5: 121,955,874 (GRCm39)	Y536C	probably damaging	Het
Sh3pxd2a	T	C	19: 47,257,093 (GRCm39)	M570V	probably benign	Het
Slamf8	C	T	1: 172,411,800 (GRCm39)	V232M	probably benign	Het
Slc6a21	T	A	7: 44,929,941 (GRCm39)	L143Q	probably damaging	Het
Snx9	T	A	17: 5,949,670 (GRCm39)	D123E	probably benign	Het
Spopfm2	G	A	3: 94,083,155 (GRCm39)	H219Y	probably damaging	Het
Supt6	C	A	11: 78,108,767 (GRCm39)	R1178L	probably damaging	Het
Sycp2	T	G	2: 178,025,304 (GRCm39)	E379D	probably damaging	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tg	A	G	15: 66,719,008 (GRCm39)	M2655V	possibly damaging	Het
Tiam2	C	T	17: 3,561,440 (GRCm39)	T1335I	probably benign	Het
Tmem154	T	A	3: 84,573,693 (GRCm39)	L12Q	possibly damaging	Het
Trpv3	A	T	11: 73,174,499 (GRCm39)	I289F	possibly damaging	Het
Tubgcp3	A	G	8: 12,699,758 (GRCm39)	L365P	probably damaging	Het
Tulp4	T	C	17: 6,291,480 (GRCm39)		probably null	Het
Tyr	A	G	7: 87,142,072 (GRCm39)	S163P	possibly damaging	Het
Usp42	A	T	5: 143,713,533 (GRCm39)		probably null	Het
Vmn2r94	A	G	17: 18,463,989 (GRCm39)	M767T	probably benign	Het
Wasl	A	G	6: 24,619,533 (GRCm39)	V329A	unknown	Het
Wdr62	T	A	7: 29,953,466 (GRCm39)	M635L	possibly damaging	Het
Wee1	G	T	7: 109,721,722 (GRCm39)	E56*	probably null	Het
Zc3h12c	C	T	9: 52,055,231 (GRCm39)	G193S	probably damaging	Het
Zfp236	T	A	18: 82,637,008 (GRCm39)	Q1426L	possibly damaging	Het
Zfp74	T	C	7: 29,634,751 (GRCm39)	Y319C	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
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
R9442:Ccdc88b	UTSW	19	6,833,213 (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'- TCCAACTCTGGGTGTGAGTC -3'
(R):5'- CTCACTGCAAGATGAGGTGAGG -3'

Sequencing Primer
(F):5'- TGCCTGAGAACACTTGGGTGAC -3'
(R):5'- TGCAAGATGAGGTGAGGGAAGC -3'

Posted On

2022-11-14