Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01953:Cipc'

181342

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cipc

Ensembl Gene

ENSMUSG00000034157

Gene Name

CLOCK interacting protein, circadian

Synonyms

2310044G17Rik

Accession Numbers

Essential gene?

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

Stock #

IGL01953

Quality Score

Status

Chromosome

Chromosomal Location

86993817-87012136 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86999538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 4 (V4E)

Ref Sequence

ENSEMBL: ENSMUSP00000140595 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038369] [ENSMUST00000185434] [ENSMUST00000187814] [ENSMUST00000188046] [ENSMUST00000191032] [ENSMUST00000190588] [ENSMUST00000189246] [ENSMUST00000191463]

AlphaFold

Q8R0W1

Predicted Effect

probably benign
Transcript: ENSMUST00000038369
AA Change: V4E

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000038630
Gene: ENSMUSG00000034157
AA Change: V4E

Domain	Start	End	E-Value	Type
Pfam:CiPC	52	388	6.6e-107	PFAM
low complexity region	390	408	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000185434
AA Change: V4E

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

unknown
Transcript: ENSMUST00000185783
AA Change: V22E

Predicted Effect

unknown
Transcript: ENSMUST00000186499
AA Change: V63E

Predicted Effect

probably benign
Transcript: ENSMUST00000187814
AA Change: V25E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000141049
Gene: ENSMUSG00000034157
AA Change: V25E

Domain	Start	End	E-Value	Type
low complexity region	72	84	N/A	INTRINSIC
low complexity region	167	175	N/A	INTRINSIC
low complexity region	243	253	N/A	INTRINSIC
low complexity region	311	326	N/A	INTRINSIC
coiled coil region	364	396	N/A	INTRINSIC
low complexity region	411	429	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000188046
AA Change: V25E

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188901

Predicted Effect

probably benign
Transcript: ENSMUST00000191032
AA Change: V4E

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000190588
AA Change: V4E

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000189246
AA Change: V4E

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000140266
Gene: ENSMUSG00000034157
AA Change: V4E

Domain	Start	End	E-Value	Type
low complexity region	51	63	N/A	INTRINSIC
low complexity region	146	154	N/A	INTRINSIC
low complexity region	222	232	N/A	INTRINSIC
low complexity region	290	305	N/A	INTRINSIC
coiled coil region	343	375	N/A	INTRINSIC
low complexity region	390	408	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000191463
AA Change: V22E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000140683
Gene: ENSMUSG00000034157
AA Change: V22E

Domain	Start	End	E-Value	Type
low complexity region	69	81	N/A	INTRINSIC
low complexity region	164	172	N/A	INTRINSIC
low complexity region	240	250	N/A	INTRINSIC
low complexity region	308	323	N/A	INTRINSIC
coiled coil region	361	393	N/A	INTRINSIC
low complexity region	408	426	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal circadian rhythms and behaviors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anks3	G	A	16: 4,778,408 (GRCm39)	A8V	probably damaging	Het
Atp6v0a4	A	G	6: 38,031,552 (GRCm39)	S650P	probably damaging	Het
B3glct	C	A	5: 149,669,000 (GRCm39)	D311E	probably benign	Het
Cc2d1a	G	A	8: 84,870,607 (GRCm39)	P119S	probably benign	Het
Cdcp3	T	C	7: 130,826,709 (GRCm39)	M261T	probably benign	Het
Chdh	T	C	14: 29,757,304 (GRCm39)	V409A	probably benign	Het
Dock2	G	T	11: 34,623,183 (GRCm39)	T70K	probably benign	Het
Dpf1	T	C	7: 29,013,732 (GRCm39)	V269A	probably damaging	Het
Drc7	A	T	8: 95,785,753 (GRCm39)	Y203F	probably damaging	Het
Dsg3	C	T	18: 20,658,361 (GRCm39)	T324I	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Iqcd	A	T	5: 120,738,554 (GRCm39)	N124I	probably benign	Het
Kdm7a	T	C	6: 39,123,836 (GRCm39)	N776S	probably benign	Het
Lama5	C	T	2: 179,832,497 (GRCm39)	R1684H	probably damaging	Het
Lrp12	A	T	15: 39,741,497 (GRCm39)	V406D	probably damaging	Het
Lrrc74a	T	A	12: 86,788,494 (GRCm39)	L158Q	probably damaging	Het
Mef2d	C	T	3: 88,063,813 (GRCm39)	T80I	probably damaging	Het
Megf11	T	C	9: 64,597,370 (GRCm39)	C681R	probably damaging	Het
Mex3c	A	G	18: 73,723,104 (GRCm39)	D399G	probably damaging	Het
Muc20	T	C	16: 32,614,073 (GRCm39)	T435A	probably benign	Het
Myo5b	T	C	18: 74,702,838 (GRCm39)	Y10H	possibly damaging	Het
Or12d13	T	C	17: 37,647,766 (GRCm39)	D119G	probably damaging	Het
Or4k40	A	G	2: 111,250,657 (GRCm39)	L213P	probably benign	Het
Otoa	T	A	7: 120,759,548 (GRCm39)		probably null	Het
P4ha2	T	C	11: 54,004,996 (GRCm39)	F124S	probably benign	Het
Phkg2	C	T	7: 127,181,512 (GRCm39)	P232S	probably damaging	Het
Piezo1	T	A	8: 123,217,923 (GRCm39)	Q800L	probably damaging	Het
Pign	C	A	1: 105,516,764 (GRCm39)		probably benign	Het
Pik3r5	A	G	11: 68,384,997 (GRCm39)	D634G	probably benign	Het
Ptpn9	A	G	9: 56,964,072 (GRCm39)	T402A	possibly damaging	Het
Relb	A	C	7: 19,349,482 (GRCm39)		probably null	Het
Scgb1b30	A	G	7: 33,799,302 (GRCm39)	Q78R	probably damaging	Het
Sema6a	C	T	18: 47,423,187 (GRCm39)	W273*	probably null	Het
Sestd1	A	G	2: 77,042,813 (GRCm39)	V247A	possibly damaging	Het
Specc1	T	A	11: 62,009,122 (GRCm39)	S293T	probably benign	Het
Sptbn2	A	G	19: 4,799,721 (GRCm39)	D2145G	probably benign	Het
Trim43b	T	A	9: 88,967,496 (GRCm39)	D380V	possibly damaging	Het
Vmn1r236	A	G	17: 21,507,473 (GRCm39)	Y197C	possibly damaging	Het
Vmn1r79	A	G	7: 11,910,382 (GRCm39)	Y88C	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r61	G	A	7: 41,949,613 (GRCm39)	V678M	probably damaging	Het
Wdfy3	A	T	5: 102,042,894 (GRCm39)	Y1937*	probably null	Het

Other mutations in Cipc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01860:Cipc	APN	12	87,007,047 (GRCm39)	missense	probably damaging	1.00
IGL02218:Cipc	APN	12	87,008,702 (GRCm39)	missense	probably damaging	1.00
R4596:Cipc	UTSW	12	87,008,728 (GRCm39)	missense	probably benign	0.01
R4651:Cipc	UTSW	12	87,008,864 (GRCm39)	missense	probably benign	0.00
R4652:Cipc	UTSW	12	87,008,864 (GRCm39)	missense	probably benign	0.00
R4696:Cipc	UTSW	12	86,999,714 (GRCm39)	splice site	probably benign
R4911:Cipc	UTSW	12	86,999,531 (GRCm39)	missense	probably benign	0.02
R5634:Cipc	UTSW	12	86,999,749 (GRCm39)	splice site	probably null
R6667:Cipc	UTSW	12	87,008,864 (GRCm39)	missense	probably benign	0.00
R7807:Cipc	UTSW	12	87,008,899 (GRCm39)	missense	possibly damaging	0.72
R8308:Cipc	UTSW	12	87,008,809 (GRCm39)	missense	probably benign	0.00
R9026:Cipc	UTSW	12	86,999,634 (GRCm39)	missense	probably damaging	0.98
R9262:Cipc	UTSW	12	86,999,497 (GRCm39)	nonsense	probably null
Z1176:Cipc	UTSW	12	87,007,111 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07