Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01860:Cipc'

178302

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: 0.123) question?

Stock #

IGL01860

Quality Score

Status

Chromosome

Chromosomal Location

86993817-87012136 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87007047 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 60 (D60E)

Ref Sequence

ENSEMBL: ENSMUSP00000140266 (fasta)

Gene Model

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

AlphaFold

Q8R0W1

Predicted Effect

probably damaging
Transcript: ENSMUST00000038369
AA Change: D60E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000038630
Gene: ENSMUSG00000034157
AA Change: D60E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000185434

Predicted Effect

probably benign
Transcript: ENSMUST00000185783

Predicted Effect

unknown
Transcript: ENSMUST00000186499
AA Change: D119E

Predicted Effect

probably damaging
Transcript: ENSMUST00000187814
AA Change: D81E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141049
Gene: ENSMUSG00000034157
AA Change: D81E

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

probably benign
Transcript: ENSMUST00000188046

Predicted Effect

probably damaging
Transcript: ENSMUST00000189246
AA Change: D60E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140266
Gene: ENSMUSG00000034157
AA Change: D60E

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 damaging
Transcript: ENSMUST00000191463
AA Change: D78E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000140683
Gene: ENSMUSG00000034157
AA Change: D78E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000191032

Predicted Effect

probably benign
Transcript: ENSMUST00000190588

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	A	6: 146,853,914 (GRCm39)	N248Y	possibly damaging	Het
Adamts13	G	A	2: 26,868,023 (GRCm39)	V128M	probably damaging	Het
Agl	A	T	3: 116,566,175 (GRCm39)		probably benign	Het
Arfgef1	A	T	1: 10,224,621 (GRCm39)	M1405K	probably damaging	Het
Atp6v1a	G	T	16: 43,920,319 (GRCm39)	L426M	probably damaging	Het
Calhm6	A	G	10: 34,002,561 (GRCm39)	V174A	probably damaging	Het
Cdc123	A	G	2: 5,808,752 (GRCm39)		probably benign	Het
Cept1	A	G	3: 106,438,444 (GRCm39)		probably benign	Het
Efcab3	T	C	11: 104,581,747 (GRCm39)	S30P	probably benign	Het
Exosc3	A	G	4: 45,319,659 (GRCm39)	I121T	probably benign	Het
Fbln5	A	G	12: 101,776,128 (GRCm39)	Y89H	probably damaging	Het
Fhod3	T	C	18: 25,030,738 (GRCm39)	F128L	probably damaging	Het
Fhod3	T	A	18: 25,037,005 (GRCm39)	I154N	probably damaging	Het
Fpgt	T	C	3: 154,792,483 (GRCm39)	T515A	probably benign	Het
Gas2l2	G	A	11: 83,312,906 (GRCm39)	T802I	probably benign	Het
Gm10710	T	A	3: 83,035,156 (GRCm39)		probably benign	Het
Hdac4	A	G	1: 91,861,417 (GRCm39)	M1051T	probably benign	Het
Heatr5b	A	G	17: 79,115,909 (GRCm39)	V849A	probably damaging	Het
Helb	T	C	10: 119,938,738 (GRCm39)	I579V	probably damaging	Het
Hspa1l	A	G	17: 35,197,787 (GRCm39)	I609V	probably benign	Het
Itgam	C	A	7: 127,670,115 (GRCm39)	Q136K	probably benign	Het
Kcnc1	T	C	7: 46,077,554 (GRCm39)	L452P	probably damaging	Het
Ltbp4	T	A	7: 27,019,071 (GRCm39)	T1083S	probably damaging	Het
Mki67	T	C	7: 135,300,686 (GRCm39)	I1449M	probably damaging	Het
Nalf1	A	T	8: 9,257,831 (GRCm39)	V439E	probably damaging	Het
P2rx5	T	A	11: 73,056,385 (GRCm39)	V103E	probably damaging	Het
Pals1	T	C	12: 78,877,681 (GRCm39)	V531A	possibly damaging	Het
Pappa	A	G	4: 65,123,329 (GRCm39)	D888G	possibly damaging	Het
Pcdhb21	G	T	18: 37,647,958 (GRCm39)	M362I	probably benign	Het
Pde1a	A	G	2: 79,705,628 (GRCm39)	S333P	probably damaging	Het
Ppm1j	A	G	3: 104,691,408 (GRCm39)	T299A	probably damaging	Het
Pramel46	G	A	5: 95,418,510 (GRCm39)	T162I	probably benign	Het
Ptdss2	A	G	7: 140,732,749 (GRCm39)	E168G	probably damaging	Het
Rspry1	A	G	8: 95,376,444 (GRCm39)	N322S	probably benign	Het
Slc7a9	T	A	7: 35,156,485 (GRCm39)	V309E	probably damaging	Het
Slco6c1	A	G	1: 97,003,548 (GRCm39)		probably benign	Het
Tas2r120	T	A	6: 132,634,227 (GRCm39)	M103K	probably damaging	Het
Tbxas1	T	A	6: 38,925,561 (GRCm39)	F59I	probably damaging	Het
Tfpi	A	G	2: 84,274,378 (GRCm39)	S203P	probably benign	Het
Tram2	T	C	1: 21,074,083 (GRCm39)	N285S	possibly damaging	Het
Trio	T	A	15: 27,846,896 (GRCm39)	D980V	probably damaging	Het
Trpv5	T	A	6: 41,637,229 (GRCm39)	H419L	probably damaging	Het
Usp28	C	T	9: 48,943,543 (GRCm39)	R361*	probably null	Het
Vmn1r6	T	A	6: 56,979,674 (GRCm39)	L112*	probably null	Het
Vmn2r12	A	T	5: 109,240,025 (GRCm39)	N179K	probably benign	Het
Vmn2r82	G	T	10: 79,214,691 (GRCm39)	A225S	probably benign	Het
Zcchc4	A	G	5: 52,965,698 (GRCm39)	Y334C	probably damaging	Het
Zfp609	T	C	9: 65,610,116 (GRCm39)	E949G	possibly damaging	Het

Other mutations in Cipc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01953:Cipc	APN	12	86,999,538 (GRCm39)	missense	possibly damaging	0.91
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