Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4362001:Ccdc28b'

554616

Institutional Source

Beutler Lab

Gene Symbol

Ccdc28b

Ensembl Gene

ENSMUSG00000028795

Gene Name

coiled coil domain containing 28B

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

PIT4362001 (G1)

Quality Score

182.009

Status

Not validated

Chromosome

Chromosomal Location

129619274-129623947 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129621025 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 97 (N97S)

Ref Sequence

ENSEMBL: ENSMUSP00000101652 (fasta)

Gene Model

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

AlphaFold

Q8CEG5

Predicted Effect

probably benign
Transcript: ENSMUST00000030586
AA Change: N97S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000030586
Gene: ENSMUSG00000028795
AA Change: N97S

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: 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: N97S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000101652
Gene: ENSMUSG00000028795
AA Change: N97S

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: N97S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000118241
Gene: ENSMUSG00000028795
AA Change: N97S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000151838
AA Change: N97S

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000122229
Gene: ENSMUSG00000028795
AA Change: N97S

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: 93.4%
3x: 91.2%
10x: 87.0%
20x: 78.3%

Validation Efficiency

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	T	C	17: 31,064,424	S28P	possibly damaging	Het
Akr1c14	T	C	13: 4,079,100	V165A	probably damaging	Het
Aox2	A	T	1: 58,282,680	T44S	probably damaging	Het
Arhgap29	T	A	3: 122,003,212	N482K	probably benign	Het
Arhgef38	T	A	3: 133,160,830	D182V		Het
Atad5	C	T	11: 80,111,567	H1062Y	probably benign	Het
Atp6v0b	A	G	4: 117,885,256	S147P	possibly damaging	Het
Cblb	T	A	16: 52,139,542	Y299*	probably null	Het
Cdh23	A	G	10: 60,465,458	V479A	probably benign	Het
Chuk	A	G	19: 44,098,583		probably null	Het
Cmtr2	G	A	8: 110,222,336	G426D	probably damaging	Het
Cog4	G	A	8: 110,866,672	D472N	probably damaging	Het
Creb3	T	A	4: 43,565,472	L193*	probably null	Het
Cxcr6	A	T	9: 123,810,461	I183F	probably benign	Het
Dbf4	A	G	5: 8,403,664	F253L	probably benign	Het
Dcaf8	T	C	1: 172,172,797	V174A	probably damaging	Het
Ddhd2	T	C	8: 25,735,752	Y526C	probably damaging	Het
Dnal4	A	G	15: 79,763,565	V33A	probably benign	Het
Egfl7	C	T	2: 26,591,040	P188L	probably benign	Het
Ephb3	A	G	16: 21,220,857	E707G	probably damaging	Het
Epn3	C	T	11: 94,496,523	R7H	probably damaging	Het
Fam198b	C	A	3: 79,886,939	S238Y	possibly damaging	Het
Fbp1	T	A	13: 62,867,380	I262F	probably damaging	Het
Fgfbp3	G	A	19: 36,918,688	R177*	probably null	Het
Gbp5	T	C	3: 142,500,710	S52P	probably damaging	Het
Glb1l2	A	T	9: 26,773,981	S282T	probably benign	Het
Glg1	A	T	8: 111,258,799	V133E	possibly damaging	Het
Gm4787	T	G	12: 81,377,175	L736F	probably benign	Het
Gm5565	A	T	5: 146,158,299	S212R	probably benign	Het
Grin2c	T	C	11: 115,249,633	T1220A	probably benign	Het
Grp	T	G	18: 65,886,226	S133A	probably benign	Het
Gstp2	C	A	19: 4,040,713	D147Y	possibly damaging	Het
Igkv14-130	T	C	6: 67,791,408	F84L	probably damaging	Het
Inppl1	T	C	7: 101,826,013	R944G	probably benign	Het
Lama2	A	T	10: 27,369,136	N216K	probably damaging	Het
Lrp2	T	A	2: 69,537,538	D210V	probably damaging	Het
Lrrc2	A	T	9: 110,962,540	Q120L	possibly damaging	Het
Lrriq1	A	G	10: 103,071,194	I1555T	probably benign	Het
Map2	G	A	1: 66,412,518	G189D	probably benign	Het
Mdc1	A	G	17: 35,844,469	E12G	possibly damaging	Het
Mdga2	T	C	12: 66,797,768	D152G	possibly damaging	Het
Med23	A	G	10: 24,874,571	M99V	probably benign	Het
Mutyh	G	A	4: 116,817,070	V273M	probably damaging	Het
Neurod2	T	A	11: 98,327,882	Y152F	probably damaging	Het
Olfr1002	A	C	2: 85,647,724	L199R	probably damaging	Het
Olfr1177-ps	C	T	2: 88,344,013	A247T	probably benign	Het
Olfr898	G	T	9: 38,349,198	L32F	probably benign	Het
Pcdh20	G	C	14: 88,467,026	P946R	probably damaging	Het
Pde6b	T	C	5: 108,423,585		probably null	Het
Pdzrn4	A	T	15: 92,769,881	D638V	possibly damaging	Het
Polr1b	A	G	2: 129,109,292	D275G	possibly damaging	Het
Rnf157	T	A	11: 116,360,317	D127V	probably damaging	Het
Rspo4	T	A	2: 151,867,883	C69*	probably null	Het
Scara3	T	C	14: 65,936,402	T63A	probably benign	Het
Scn2a	G	A	2: 65,683,838	E289K	probably benign	Het
Sh3gl2	A	G	4: 85,377,549	T163A	probably benign	Het
Slc2a10	T	A	2: 165,516,293	F446Y	probably damaging	Het
Snapc1	C	T	12: 73,982,495	R351C	probably damaging	Het
Snx6	A	G	12: 54,768,030	Y169H	possibly damaging	Het
Stab2	A	T	10: 86,861,435	C1996*	probably null	Het
Steap4	A	G	5: 7,980,337	T398A	probably benign	Het
Tep1	A	T	14: 50,866,053	L260Q	probably benign	Het
Tspan12	A	T	6: 21,835,464	V70D	possibly damaging	Het
Ttn	G	A	2: 76,739,018	A27177V	probably damaging	Het
Ube3a	T	C	7: 59,276,122	V237A	possibly damaging	Het
Vil1	G	A	1: 74,421,383	R233H	probably damaging	Het
Xrcc5	A	G	1: 72,393,929	T716A	probably benign	Het
Zbp1	A	G	2: 173,216,990	I18T	probably damaging	Het
Zfp292	A	G	4: 34,807,524	V1845A	probably benign	Het
Zfp407	A	T	18: 84,561,268	N573K	possibly damaging	Het
Zfp64	T	C	2: 168,925,815	T626A	probably benign	Het

Other mutations in Ccdc28b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0722:Ccdc28b	UTSW	4	129621152	critical splice acceptor site	probably null
R1172:Ccdc28b	UTSW	4	129620889	intron	probably benign
R1440:Ccdc28b	UTSW	4	129620615	missense	probably benign
R1842:Ccdc28b	UTSW	4	129621013	missense	probably damaging	1.00
R2475:Ccdc28b	UTSW	4	129620652	splice site	probably null
R5396:Ccdc28b	UTSW	4	129619445	missense	probably damaging	0.99
R6523:Ccdc28b	UTSW	4	129620987	missense	probably damaging	1.00
R7125:Ccdc28b	UTSW	4	129621092	missense	probably benign	0.20
R7445:Ccdc28b	UTSW	4	129622607	missense	probably benign	0.05
R8998:Ccdc28b	UTSW	4	129622678	missense	probably benign	0.00
Z1176:Ccdc28b	UTSW	4	129621104	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACACATCCAGGCTGAAGTGC -3'
(R):5'- AGAGAGACATGACACACCTATG -3'

Sequencing Primer
(F):5'- AAGTGCAGTCTGGCCAACTTC -3'
(R):5'- GACCACAGTCATGTCTACTTTACC -3'

Posted On

2019-06-07