Mutagenetix > Incidental Mutation

Incidental Mutation 'R3905:Ccdc159'

309152

Institutional Source

Beutler Lab

Gene Symbol

Ccdc159

Ensembl Gene

ENSMUSG00000006241

Gene Name

coiled-coil domain containing 159

Synonyms

2510048L02Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3905 (G1)

Quality Score

208

Status

Not validated

Chromosome

Chromosomal Location

21838767-21847168 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 21845815 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148950 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006403] [ENSMUST00000046371] [ENSMUST00000170304] [ENSMUST00000188468] [ENSMUST00000190387] [ENSMUST00000214734] [ENSMUST00000216710]

AlphaFold

Q8C963

Predicted Effect

probably null
Transcript: ENSMUST00000006403

SMART Domains

Protein: ENSMUSP00000006403
Gene: ENSMUSG00000006241

Domain	Start	End	E-Value	Type
low complexity region	42	52	N/A	INTRINSIC
coiled coil region	152	172	N/A	INTRINSIC
low complexity region	217	227	N/A	INTRINSIC
coiled coil region	261	288	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000046371

SMART Domains

Protein: ENSMUSP00000038616
Gene: ENSMUSG00000040563

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
transmembrane domain	69	91	N/A	INTRINSIC
low complexity region	94	106	N/A	INTRINSIC
acidPPc	130	281	2.31e-9	SMART
low complexity region	363	422	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000170304

SMART Domains

Protein: ENSMUSP00000126474
Gene: ENSMUSG00000006241

Domain	Start	End	E-Value	Type
low complexity region	50	60	N/A	INTRINSIC
coiled coil region	160	180	N/A	INTRINSIC
low complexity region	225	235	N/A	INTRINSIC
coiled coil region	269	296	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000188468

SMART Domains

Protein: ENSMUSP00000140166
Gene: ENSMUSG00000040563

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
transmembrane domain	46	63	N/A	INTRINSIC
low complexity region	69	81	N/A	INTRINSIC
acidPPc	105	256	1.1e-11	SMART
low complexity region	338	397	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000190387

SMART Domains

Protein: ENSMUSP00000139727
Gene: ENSMUSG00000040563

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
transmembrane domain	69	91	N/A	INTRINSIC
low complexity region	94	106	N/A	INTRINSIC
acidPPc	130	281	2.31e-9	SMART
low complexity region	322	336	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000214734

Predicted Effect

probably null
Transcript: ENSMUST00000216710

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217589

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,307,389 (GRCm39)	I1964N	possibly damaging	Het
Abca12	A	G	1: 71,318,616 (GRCm39)	F1796L	probably benign	Het
Abca17	T	A	17: 24,515,257 (GRCm39)	M821L	probably benign	Het
Adamts3	C	A	5: 90,009,214 (GRCm39)	G150C	probably damaging	Het
Ap4b1	A	T	3: 103,726,209 (GRCm39)	I262F	possibly damaging	Het
Atp1a1	T	A	3: 101,497,928 (GRCm39)	E286D	probably benign	Het
Bard1	T	C	1: 71,106,339 (GRCm39)	I429M	possibly damaging	Het
Bcl7c	T	C	7: 127,266,155 (GRCm39)	R198G	possibly damaging	Het
Cacna1s	T	A	1: 136,012,007 (GRCm39)	M483K	probably damaging	Het
Cct7	A	T	6: 85,443,690 (GRCm39)	I353F	possibly damaging	Het
Cfap57	A	G	4: 118,453,036 (GRCm39)	Y556H	probably damaging	Het
Fat1	G	C	8: 45,476,072 (GRCm39)	R1706T	probably benign	Het
Fn1	C	T	1: 71,647,072 (GRCm39)	G1482R	probably damaging	Het
Gcat	T	C	15: 78,927,531 (GRCm39)	L324P	possibly damaging	Het
Hspa1a	C	T	17: 35,190,703 (GRCm39)	V67M	probably damaging	Het
Il22	C	T	10: 118,041,529 (GRCm39)	R81*	probably null	Het
Impa1	T	C	3: 10,381,094 (GRCm39)	T263A	probably benign	Het
Kif13a	T	C	13: 46,956,166 (GRCm39)	Y609C	probably damaging	Het
Kmt2e	A	G	5: 23,706,624 (GRCm39)	N1396D	probably benign	Het
Lrfn1	G	A	7: 28,166,294 (GRCm39)	G563R	possibly damaging	Het
Mark1	A	C	1: 184,640,632 (GRCm39)		probably null	Het
Mxd1	G	T	6: 86,627,942 (GRCm39)	Q199K	probably benign	Het
Myo3a	T	A	2: 22,448,227 (GRCm39)	Y1N	probably damaging	Het
Nek3	T	C	8: 22,623,107 (GRCm39)	E309G	probably benign	Het
Or10h28	T	C	17: 33,487,749 (GRCm39)	F17S	probably damaging	Het
Otoa	A	T	7: 120,724,788 (GRCm39)	Q489L	probably damaging	Het
Oxsr1	T	C	9: 119,076,178 (GRCm39)	E376G	probably benign	Het
Piezo1	C	T	8: 123,208,882 (GRCm39)	E2494K	probably damaging	Het
Pkd1l3	A	G	8: 110,373,511 (GRCm39)	H1349R	probably benign	Het
Psmd2	A	G	16: 20,474,392 (GRCm39)	D316G	probably benign	Het
Pwwp3a	T	C	10: 80,074,150 (GRCm39)	V401A	probably damaging	Het
Robo4	T	A	9: 37,314,801 (GRCm39)	C218*	probably null	Het
Rxfp2	A	T	5: 149,979,450 (GRCm39)		probably null	Het
Slc10a1	A	G	12: 81,014,441 (GRCm39)	I93T	probably damaging	Het
Tarbp1	C	T	8: 127,154,891 (GRCm39)	R1411Q	probably damaging	Het
Tbl3	C	T	17: 24,921,006 (GRCm39)	D563N	probably damaging	Het
Tec	A	G	5: 72,917,705 (GRCm39)	S505P	probably damaging	Het
Toporsl	A	T	4: 52,611,750 (GRCm39)	R548*	probably null	Het
Vmn1r39	G	A	6: 66,781,479 (GRCm39)	Q243*	probably null	Het
Vmn2r9	C	A	5: 108,995,785 (GRCm39)	A288S	probably benign	Het

Other mutations in Ccdc159

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Ccdc159	APN	9	21,840,765 (GRCm39)	missense	possibly damaging	0.83
IGL02322:Ccdc159	APN	9	21,840,669 (GRCm39)	missense	possibly damaging	0.46
IGL03156:Ccdc159	APN	9	21,840,771 (GRCm39)	missense	probably benign
IGL03382:Ccdc159	APN	9	21,842,992 (GRCm39)	splice site	probably null
R1622:Ccdc159	UTSW	9	21,840,666 (GRCm39)	missense	possibly damaging	0.66
R2076:Ccdc159	UTSW	9	21,840,802 (GRCm39)	splice site	probably null
R4083:Ccdc159	UTSW	9	21,840,699 (GRCm39)	missense	possibly damaging	0.83
R4625:Ccdc159	UTSW	9	21,840,762 (GRCm39)	missense	probably benign
R4700:Ccdc159	UTSW	9	21,839,027 (GRCm39)	splice site	probably null
R5004:Ccdc159	UTSW	9	21,844,241 (GRCm39)	missense	probably damaging	1.00
R5743:Ccdc159	UTSW	9	21,840,686 (GRCm39)	missense	probably benign	0.19
R6245:Ccdc159	UTSW	9	21,846,864 (GRCm39)	missense	probably damaging	0.99
R7263:Ccdc159	UTSW	9	21,843,007 (GRCm39)	missense	probably benign	0.04
R8171:Ccdc159	UTSW	9	21,845,007 (GRCm39)	missense	possibly damaging	0.82
R8477:Ccdc159	UTSW	9	21,844,223 (GRCm39)	missense	probably damaging	1.00
R8712:Ccdc159	UTSW	9	21,845,051 (GRCm39)	missense	probably benign	0.27
R9649:Ccdc159	UTSW	9	21,840,672 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- CTGGAACCCAGTTGATTCCTAC -3'
(R):5'- GACTCGCCTTGGGTTTGAAG -3'

Sequencing Primer
(F):5'- AGTTGATTCCTACTTCTTCTGGG -3'
(R):5'- GGGTTTGAAGTTCTCTTTCACC -3'

Posted On

2015-04-17