Mutagenetix > Incidental Mutation

Incidental Mutation 'R2475:Ccdc28b'

253328

Institutional Source

Beutler Lab

Gene Symbol

Ccdc28b

Ensembl Gene

ENSMUSG00000028795

Gene Name

coiled coil domain containing 28B

Synonyms

1110002E08Rik, 1810010N17Rik

MMRRC Submission

040406-MU

Accession Numbers

Essential gene?

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

Stock #

R2475 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129513067-129517740 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 129514445 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113036 (fasta)

Gene Model

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

AlphaFold

Q8CEG5

Predicted Effect

probably benign
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 null
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: ENSMUST00000106035
AA Change: W186R

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000101652
Gene: ENSMUSG00000028795
AA Change: W186R

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 null
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

noncoding transcript
Transcript: ENSMUST00000124630

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126777

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152290

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146378

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131559

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141361

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127029

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152708

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: 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

probably benign
Transcript: ENSMUST00000174073

SMART Domains

Protein: ENSMUSP00000133325
Gene: ENSMUSG00000028797

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

Predicted Effect

probably benign
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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (32/32)

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a1	T	A	19: 20,617,442 (GRCm39)	M458K	probably benign	Het
Atic	C	T	1: 71,598,428 (GRCm39)	R64C	probably damaging	Het
Atp7b	C	T	8: 22,484,792 (GRCm39)	V1307M	possibly damaging	Het
Bbx	C	A	16: 50,040,882 (GRCm39)	R707L	probably damaging	Het
Gm21136	T	A	7: 38,567,258 (GRCm39)	T57S	probably damaging	Het
Gm5862	G	A	5: 26,224,490 (GRCm39)	L160F	probably damaging	Het
Gpsm3	A	G	17: 34,809,534 (GRCm39)	T47A	possibly damaging	Het
Grip1	T	C	10: 119,814,401 (GRCm39)	Y311H	probably benign	Het
Inpp4b	T	A	8: 82,768,607 (GRCm39)	N705K	probably benign	Het
Lingo1	T	A	9: 56,526,910 (GRCm39)	I560F	probably benign	Het
Man2b2	A	G	5: 36,965,219 (GRCm39)	V958A	probably benign	Het
Mavs	G	T	2: 131,082,370 (GRCm39)	A85S	probably damaging	Het
Nipbl	A	T	15: 8,364,490 (GRCm39)	C1305S	probably benign	Het
Or14j9	A	G	17: 37,874,602 (GRCm39)	V200A	probably benign	Het
Phf19	C	T	2: 34,785,807 (GRCm39)	R554Q	probably benign	Het
Pramel24	T	A	4: 143,453,395 (GRCm39)	Y168N	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Trpm8	A	G	1: 88,282,171 (GRCm39)	D689G	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ttn	A	G	2: 76,703,094 (GRCm39)		probably benign	Het
Wrnip1	G	A	13: 32,990,941 (GRCm39)	R400H	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
R0722:Ccdc28b	UTSW	4	129,514,945 (GRCm39)	critical splice acceptor site	probably null
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
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'- TGAATCCCTAAGGCCCCTTG -3'
(R):5'- GAAGTTGGCCAGACTGCACTTC -3'

Sequencing Primer
(F):5'- GGAATTGCTAAGATCTTCCAGCTGTC -3'
(R):5'- AGACTGCACTTCAGCCTGGATG -3'

Posted On

2014-12-04