Mutagenetix > Incidental Mutation

Incidental Mutation 'R7125:Ccdc28b'

552261

Institutional Source

Beutler Lab

Gene Symbol

Ccdc28b

Ensembl Gene

ENSMUSG00000028795

Gene Name

coiled coil domain containing 28B

Synonyms

1110002E08Rik, 1810010N17Rik

MMRRC Submission

045327-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R7125 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129513067-129517740 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129514885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 75 (T75S)

Ref Sequence

ENSEMBL: ENSMUSP00000101652 (fasta)

Gene Model

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

AlphaFold

Q8CEG5

Predicted Effect

probably benign
Transcript: ENSMUST00000030586
AA Change: T75S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000030586
Gene: ENSMUSG00000028795
AA Change: T75S

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 benign
Transcript: ENSMUST00000106035
AA Change: T75S

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000101652
Gene: ENSMUSG00000028795
AA Change: T75S

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

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: ENSMUST00000150357
AA Change: T75S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000118241
Gene: ENSMUSG00000028795
AA Change: T75S

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
AA Change: T75S

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000122229
Gene: ENSMUSG00000028795
AA Change: T75S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

96% (48/50)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	A	T	11: 80,255,751 (GRCm39)	C296S	probably damaging	Het
Ago3	T	C	4: 126,264,145 (GRCm39)	I354V	probably null	Het
Aldh1l1	G	A	6: 90,553,761 (GRCm39)		probably null	Het
Ankrd49	TAA	TA	9: 14,693,836 (GRCm39)		probably null	Het
B3gnt7	A	G	1: 86,233,099 (GRCm39)	Y115C	probably damaging	Het
Cacna1h	A	T	17: 25,602,510 (GRCm39)	M1506K	probably damaging	Het
Cars1	T	C	7: 143,138,510 (GRCm39)	T226A	probably benign	Het
Cdc42bpg	A	G	19: 6,372,321 (GRCm39)	I1436V	probably damaging	Het
Cep152	A	T	2: 125,408,593 (GRCm39)	Y1320*	probably null	Het
Cntnap2	A	T	6: 46,965,580 (GRCm39)	Y797F	probably benign	Het
Coq8a	T	A	1: 179,996,366 (GRCm39)	N490I	probably damaging	Het
Csmd2	T	C	4: 128,389,955 (GRCm39)	L2230P		Het
Cyp4a14	A	T	4: 115,348,358 (GRCm39)	I373N	probably damaging	Het
Ddx1	A	G	12: 13,293,864 (GRCm39)	S86P	probably benign	Het
Dennd3	A	T	15: 73,405,140 (GRCm39)	I298F	possibly damaging	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Dnah2	T	C	11: 69,327,008 (GRCm39)	T3533A	probably damaging	Het
Fam53b	T	C	7: 132,373,357 (GRCm39)	H27R	probably damaging	Het
Firrm	T	C	1: 163,789,631 (GRCm39)	T635A	probably benign	Het
Fyb1	G	A	15: 6,674,337 (GRCm39)	E658K	possibly damaging	Het
Gapvd1	T	C	2: 34,585,612 (GRCm39)	S996G	probably benign	Het
Gm47959	G	A	1: 82,978,503 (GRCm39)	G57S	unknown	Het
Golgb1	T	A	16: 36,738,325 (GRCm39)	H2262Q	possibly damaging	Het
Gpam	T	C	19: 55,064,767 (GRCm39)	T646A	probably benign	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
Hexd	C	T	11: 121,095,496 (GRCm39)		probably benign	Het
Micu2	A	T	14: 58,209,238 (GRCm39)	Y73*	probably null	Het
N4bp2l2	T	C	5: 150,573,894 (GRCm39)		probably null	Het
Or11h7	T	C	14: 50,891,041 (GRCm39)	C116R	possibly damaging	Het
Or1e31	T	C	11: 73,689,990 (GRCm39)	M198V	probably benign	Het
Or1m1	A	T	9: 18,666,174 (GRCm39)	Y252*	probably null	Het
Or51t4	T	C	7: 102,598,386 (GRCm39)	V238A	probably damaging	Het
Or5b112	A	T	19: 13,319,103 (GRCm39)		probably null	Het
P3r3urf	A	G	4: 116,030,667 (GRCm39)	M24V	probably benign	Het
Prkca	A	G	11: 107,874,848 (GRCm39)	Y365H	probably damaging	Het
Ptpre	C	T	7: 135,255,744 (GRCm39)	R155*	probably null	Het
Ryr2	T	A	13: 11,684,873 (GRCm39)	N3023Y	probably damaging	Het
S100a7a	A	G	3: 90,562,822 (GRCm39)	D3G	probably benign	Het
Scn2a	T	C	2: 65,594,277 (GRCm39)	F1709L	probably damaging	Het
Slc15a2	T	C	16: 36,602,660 (GRCm39)	E67G	probably damaging	Het
Slc25a22	A	G	7: 141,011,655 (GRCm39)	L195P	probably damaging	Het
Sp140	TTTTTTTTTTTTT	TTTTTTTTTTTTTTTTTT	1: 85,572,290 (GRCm39)		probably benign	Het
Stim1	T	A	7: 102,084,741 (GRCm39)	H564Q	possibly damaging	Het
Sulf2	C	T	2: 165,917,448 (GRCm39)	W855*	probably null	Het
Tenm3	T	C	8: 49,127,588 (GRCm39)	N30S	probably benign	Het
Trim59	T	C	3: 68,944,197 (GRCm39)	D381G	probably benign	Het
Ttc21b	T	C	2: 66,066,670 (GRCm39)	T328A	probably benign	Het
Ttc6	C	G	12: 57,623,125 (GRCm39)	Q175E	probably benign	Het
Vmn2r44	T	C	7: 8,370,941 (GRCm39)	I702V	probably damaging	Het
Zfp768	A	T	7: 126,943,959 (GRCm39)	F59L	probably damaging	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
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
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'- TGAGTTTAGGAGGCAGCCTG -3'
(R):5'- AACAGATGCCTTTCTGCCC -3'

Sequencing Primer
(F):5'- AGCCTGGGACCCTAACC -3'
(R):5'- TTAACCTATCCTGCTGCTCAG -3'

Posted On

2019-05-15