Mutagenetix > Incidental Mutation

Incidental Mutation 'R0722:Ccdc28b'

63554

Institutional Source

Beutler Lab

Gene Symbol

Ccdc28b

Ensembl Gene

ENSMUSG00000028795

Gene Name

coiled coil domain containing 28B

Synonyms

1110002E08Rik, 1810010N17Rik

MMRRC Submission

038904-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R0722 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

129513067-129517740 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 129514945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118241 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030586] [ENSMUST00000046425] [ENSMUST00000046675] [ENSMUST00000084264] [ENSMUST00000106035] [ENSMUST00000121442] [ENSMUST00000150357] [ENSMUST00000150357] [ENSMUST00000151838] [ENSMUST00000137090] [ENSMUST00000174073]

AlphaFold

Q8CEG5

Predicted Effect

probably null
Transcript: ENSMUST00000030586

SMART Domains

Protein: ENSMUSP00000030586
Gene: ENSMUSG00000028795

Domain	Start	End	E-Value	Type
low complexity region	66	74	N/A	INTRINSIC
Pfam:DUF4061	85	185	4.3e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000046425

SMART Domains

Protein: ENSMUSP00000042153
Gene: ENSMUSG00000053841

Domain	Start	End	E-Value	Type
low complexity region	91	107	N/A	INTRINSIC
Pfam:Taxilin	169	478	9.1e-120	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000046675

SMART Domains

Protein: ENSMUSP00000040584
Gene: ENSMUSG00000040795

Domain	Start	End	E-Value	Type
IQ	5	27	6.6e-2	SMART
low complexity region	150	160	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000084264

SMART Domains

Protein: ENSMUSP00000081285
Gene: ENSMUSG00000053841

Domain	Start	End	E-Value	Type
low complexity region	91	107	N/A	INTRINSIC
Pfam:Taxilin	166	478	3.9e-122	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000106035

SMART Domains

Protein: ENSMUSP00000101652
Gene: ENSMUSG00000028795

Domain	Start	End	E-Value	Type
low complexity region	66	74	N/A	INTRINSIC
Pfam:DUF4061	86	178	2.2e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121442

SMART Domains

Protein: ENSMUSP00000113036
Gene: ENSMUSG00000040795

Domain	Start	End	E-Value	Type
IQ	5	27	6.6e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123943

Predicted Effect

probably null
Transcript: ENSMUST00000150357

SMART Domains

Protein: ENSMUSP00000118241
Gene: ENSMUSG00000028795

Domain	Start	End	E-Value	Type
low complexity region	66	74	N/A	INTRINSIC
Pfam:DUF4061	85	104	7e-8	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000150357

SMART Domains

Protein: ENSMUSP00000118241
Gene: ENSMUSG00000028795

Domain	Start	End	E-Value	Type
low complexity region	66	74	N/A	INTRINSIC
Pfam:DUF4061	85	104	7e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151838

SMART Domains

Protein: ENSMUSP00000122229
Gene: ENSMUSG00000028795

Domain	Start	End	E-Value	Type
low complexity region	66	74	N/A	INTRINSIC
Pfam:DUF4061	85	120	1.1e-13	PFAM
low complexity region	132	147	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124630

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141361

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152290

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146378

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126777

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131559

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152708

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142577

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127029

Predicted Effect

probably benign
Transcript: ENSMUST00000137090

SMART Domains

Protein: ENSMUSP00000117568
Gene: ENSMUSG00000028797

Domain	Start	End	E-Value	Type
Pfam:UPF0546	11	62	1.1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174073

SMART Domains

Protein: ENSMUSP00000133325
Gene: ENSMUSG00000028797

Domain	Start	End	E-Value	Type
Pfam:UPF0546	11	62	1.1e-12	PFAM

Meta Mutation Damage Score

0.9497

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 91.7%

Validation Efficiency

97% (63/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene localizes to centrosomes and basal bodies. The protein colocalizes with several proteins associated with Bardet-Biedl syndrome (BBS) and participates in the regulation of cilia development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adap2	T	C	11: 80,047,810 (GRCm39)	F89L	possibly damaging	Het
Akr1c13	A	G	13: 4,247,931 (GRCm39)		probably null	Het
Atp10a	A	G	7: 58,465,931 (GRCm39)	I1053V	possibly damaging	Het
Bmper	G	T	9: 23,285,224 (GRCm39)	V258L	probably benign	Het
Brd4	T	C	17: 32,431,956 (GRCm39)	H636R	possibly damaging	Het
Cacna2d4	C	T	6: 119,284,247 (GRCm39)	R745W	probably damaging	Het
Ccbe1	C	T	18: 66,217,877 (GRCm39)	C112Y	probably damaging	Het
Cd320	T	C	17: 34,065,004 (GRCm39)	S46P	possibly damaging	Het
Cfap251	T	A	5: 123,394,248 (GRCm39)	V379E	probably damaging	Het
Cfap44	G	A	16: 44,225,039 (GRCm39)	E95K	possibly damaging	Het
Clpp	T	C	17: 57,299,901 (GRCm39)	V144A	probably damaging	Het
Crtam	A	T	9: 40,903,912 (GRCm39)	C96S	probably damaging	Het
Dcst1	C	T	3: 89,261,112 (GRCm39)	R480H	probably benign	Het
Dock2	A	T	11: 34,414,970 (GRCm39)		probably benign	Het
Ermard	A	G	17: 15,242,390 (GRCm39)	T189A	probably benign	Het
Gm10840	A	G	11: 106,051,902 (GRCm39)		probably benign	Het
Gm4845	T	A	1: 141,184,598 (GRCm39)		noncoding transcript	Het
Heatr1	A	G	13: 12,420,918 (GRCm39)	E403G	probably benign	Het
Herc4	A	G	10: 63,121,844 (GRCm39)	I399V	probably null	Het
Htr1f	A	G	16: 64,746,254 (GRCm39)	I346T	probably damaging	Het
Igf2r	T	C	17: 12,934,382 (GRCm39)		probably null	Het
Jmy	G	A	13: 93,589,325 (GRCm39)	T644I	probably benign	Het
Kcnn2	T	C	18: 45,692,543 (GRCm39)	C40R	possibly damaging	Het
Krt13	T	G	11: 100,009,979 (GRCm39)	K297T	probably damaging	Het
Lrba	T	C	3: 86,513,296 (GRCm39)		probably null	Het
Lrrc8b	T	C	5: 105,627,978 (GRCm39)	V108A	possibly damaging	Het
Lrrc8c	T	A	5: 105,727,414 (GRCm39)	V26E	probably damaging	Het
Or10g6	A	G	9: 39,934,295 (GRCm39)	D202G	probably damaging	Het
Or5p6	A	G	7: 107,631,541 (GRCm39)	F3S	probably benign	Het
Pcna	A	G	2: 132,093,155 (GRCm39)		probably benign	Het
Pgm2	A	T	5: 64,265,022 (GRCm39)	R348*	probably null	Het
Pikfyve	T	G	1: 65,292,682 (GRCm39)	S1378A	probably damaging	Het
Pkp2	T	C	16: 16,064,892 (GRCm39)	V472A	probably benign	Het
Pld5	A	G	1: 175,803,081 (GRCm39)	F395L	probably benign	Het
Plekhb1	A	T	7: 100,294,810 (GRCm39)	Y169N	probably damaging	Het
Polr2c	T	A	8: 95,589,265 (GRCm39)	Y186N	probably damaging	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Prr5l	A	G	2: 101,547,819 (GRCm39)		probably benign	Het
Ptbp2	C	T	3: 119,514,570 (GRCm39)	R419Q	possibly damaging	Het
Ralgapa2	A	G	2: 146,230,451 (GRCm39)	V1038A	probably damaging	Het
Rassf2	A	G	2: 131,844,830 (GRCm39)	V204A	probably damaging	Het
Slc22a22	T	C	15: 57,119,949 (GRCm39)		probably null	Het
Slit1	T	C	19: 41,596,874 (GRCm39)	Y1075C	probably damaging	Het
Smc5	C	A	19: 23,186,291 (GRCm39)	L1055F	probably damaging	Het
Spidr	A	G	16: 15,730,645 (GRCm39)	F620S	probably damaging	Het
Susd1	A	G	4: 59,379,749 (GRCm39)	S293P	possibly damaging	Het
Tepsin	A	G	11: 119,986,163 (GRCm39)		probably benign	Het
Vmn2r68	A	T	7: 84,870,794 (GRCm39)	L830I	possibly damaging	Het
Vtn	A	G	11: 78,391,680 (GRCm39)		probably benign	Het
Zfp267	C	T	3: 36,219,218 (GRCm39)	H414Y	probably benign	Het
Zfp280d	T	G	9: 72,219,383 (GRCm39)	S162A	possibly damaging	Het
Zfp608	T	G	18: 55,033,306 (GRCm39)	K409T	probably damaging	Het
Zfp738	A	T	13: 67,819,643 (GRCm39)	M116K	probably benign	Het

Other mutations in Ccdc28b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4362001:Ccdc28b	UTSW	4	129,514,818 (GRCm39)	missense	probably benign	0.00
R1172:Ccdc28b	UTSW	4	129,514,682 (GRCm39)	intron	probably benign
R1440:Ccdc28b	UTSW	4	129,514,408 (GRCm39)	missense	probably benign
R1842:Ccdc28b	UTSW	4	129,514,806 (GRCm39)	missense	probably damaging	1.00
R2475:Ccdc28b	UTSW	4	129,514,445 (GRCm39)	splice site	probably null
R5396:Ccdc28b	UTSW	4	129,513,238 (GRCm39)	missense	probably damaging	0.99
R6523:Ccdc28b	UTSW	4	129,514,780 (GRCm39)	missense	probably damaging	1.00
R7125:Ccdc28b	UTSW	4	129,514,885 (GRCm39)	missense	probably benign	0.20
R7445:Ccdc28b	UTSW	4	129,516,400 (GRCm39)	missense	probably benign	0.05
R8998:Ccdc28b	UTSW	4	129,516,471 (GRCm39)	missense	probably benign	0.00
Z1176:Ccdc28b	UTSW	4	129,514,897 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGAACATTCCTTCCCTGGACAACTC -3'
(R):5'- GGAAACAGATGCCTTTCTGCCCTC -3'

Sequencing Primer
(F):5'- GCTCCCGGACTTACCAAAGG -3'
(R):5'- CTTCCTTTCTCCCCTTCATCTG -3'

Posted On

2013-07-30