Mutagenetix > Incidental Mutation

Incidental Mutation 'R7807:Cipc'

600886

Institutional Source

Beutler Lab

Gene Symbol

Cipc

Ensembl Gene

ENSMUSG00000034157

Gene Name

CLOCK interacting protein, circadian

Synonyms

2310044G17Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

R7807 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86947043-86965362 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86962125 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 253 (S253P)

Ref Sequence

ENSEMBL: ENSMUSP00000141049 (fasta)

Gene Model

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

AlphaFold

Q8R0W1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038369
AA Change: S232P

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000038630
Gene: ENSMUSG00000034157
AA Change: S232P

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

probably benign
Transcript: ENSMUST00000186499

Predicted Effect

possibly damaging
Transcript: ENSMUST00000187814
AA Change: S253P

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000141049
Gene: ENSMUSG00000034157
AA Change: S253P

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

possibly damaging
Transcript: ENSMUST00000189246
AA Change: S232P

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140266
Gene: ENSMUSG00000034157
AA Change: S232P

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: ENSMUST00000190588

Predicted Effect

probably benign
Transcript: ENSMUST00000191032

Predicted Effect

possibly damaging
Transcript: ENSMUST00000191463
AA Change: S250P

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140683
Gene: ENSMUSG00000034157
AA Change: S250P

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (68/68)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	T	C	2: 130,710,865	K1092E	probably damaging	Het
AB124611	C	A	9: 21,535,980	T146K	probably benign	Het
Alms1	T	A	6: 85,622,976	S1595T	possibly damaging	Het
Ankrd44	A	T	1: 54,792,476	I56N	probably damaging	Het
Anln	C	A	9: 22,360,880	V648F	probably damaging	Het
Arhgap29	A	G	3: 122,014,332	D1053G	probably benign	Het
Baalc	T	C	15: 38,934,017	S68P	probably benign	Het
Begain	T	C	12: 109,038,930	D52G	probably damaging	Het
Blmh	A	G	11: 76,946,214	I41V	probably benign	Het
Bpifc	T	A	10: 85,976,250	I365F	possibly damaging	Het
C2	G	T	17: 34,876,371	S199R	possibly damaging	Het
Ccbe1	T	A	18: 66,066,757	H298L	probably damaging	Het
Ccdc112	T	A	18: 46,290,759	K304I	probably damaging	Het
Ccdc15	T	C	9: 37,315,382	E432G	probably benign	Het
Cdh13	T	A	8: 118,283,855	M1K	probably null	Het
Clcn1	A	G	6: 42,310,348		probably null	Het
Clock	A	T	5: 76,243,135	N273K	probably benign	Het
Cyp19a1	T	C	9: 54,166,842	D476G	probably benign	Het
Dnah7b	A	G	1: 46,214,367	I1811V	probably benign	Het
Fat1	C	A	8: 45,041,973	T4091K	probably damaging	Het
Gm10340	T	A	14: 3,134,925	N64K	probably damaging	Het
Gm12394	A	C	4: 42,793,885	H82Q	probably benign	Het
Hectd1	G	A	12: 51,745,388	R2523C	probably damaging	Het
Hgf	A	G	5: 16,577,011	H244R	probably damaging	Het
Hgs	G	T	11: 120,479,934	A567S	probably damaging	Het
Igdcc4	T	C	9: 65,133,795	V1036A	probably benign	Het
Keg1	G	A	19: 12,714,634		probably null	Het
Klhl8	A	T	5: 103,876,066	L156Q	probably damaging	Het
Lmln	T	C	16: 33,107,131	Y521H	probably benign	Het
Lrrc7	A	G	3: 158,160,487	S1206P	probably damaging	Het
Mad1l1	T	A	5: 140,088,786	I550F	probably benign	Het
Marf1	C	T	16: 14,153,889	W28*	probably null	Het
Mfsd11	T	G	11: 116,863,907	S215A	probably benign	Het
Mpped2	C	A	2: 106,744,740	H57N	possibly damaging	Het
Mslnl	A	G	17: 25,746,777	M542V	probably benign	Het
Myh6	G	T	14: 54,942,440	H1903Q	probably damaging	Het
Neo1	T	C	9: 58,990,494	T60A	probably benign	Het
Npm2	T	A	14: 70,652,507		probably null	Het
Olfr1165-ps	T	C	2: 88,101,565	S141G	probably benign	Het
Olfr1355	T	A	10: 78,879,209	S12R	probably benign	Het
Olfr1487	C	A	19: 13,619,921	T210K	probably damaging	Het
Pax9	A	T	12: 56,697,065	I166F	possibly damaging	Het
Pcsk9	A	G	4: 106,463,895	S6P	possibly damaging	Het
Pikfyve	A	G	1: 65,269,942	Y1893C	probably damaging	Het
Pirb	T	C	7: 3,719,865	T43A	possibly damaging	Het
Pou3f1	A	G	4: 124,658,281	D192G	possibly damaging	Het
Pus3	C	G	9: 35,566,725	R418G	probably damaging	Het
Rexo1	C	T	10: 80,550,136	V363I	probably benign	Het
Sdcbp	A	G	4: 6,393,688	T269A	probably damaging	Het
Sele	T	C	1: 164,053,893	V523A	probably benign	Het
Serpinb8	T	A	1: 107,604,727	M183K	probably damaging	Het
Sh2d4a	T	G	8: 68,282,381	S51A	probably benign	Het
Siglec15	A	G	18: 78,047,481	S201P	probably damaging	Het
Slc10a5	C	T	3: 10,335,469	V44I	probably benign	Het
Slc16a13	A	G	11: 70,220,562	V39A	probably damaging	Het
Slc25a13	G	A	6: 6,117,164	R184W	probably damaging	Het
Slc35f5	T	A	1: 125,584,541	D359E	probably damaging	Het
Slc3a1	A	G	17: 85,063,943	E641G	probably benign	Het
Slf1	T	C	13: 77,046,704	D834G	probably damaging	Het
Stim1	T	C	7: 102,427,141	I433T	probably damaging	Het
Stra6	T	A	9: 58,150,161	I418K	probably damaging	Het
Tanc2	A	G	11: 105,867,654	N747S	probably benign	Het
Tet2	T	C	3: 133,486,541	T711A	possibly damaging	Het
Trpm6	T	C	19: 18,829,856	I988T	probably benign	Het
Ttc41	T	A	10: 86,776,631	I1256N	probably benign	Het
Uba2	T	C	7: 34,163,213	D100G	possibly damaging	Het
Vmn1r43	A	G	6: 89,870,237	I89T	probably benign	Het
Vmn2r58	T	A	7: 41,872,486	Y62F	probably benign	Het
Ylpm1	C	T	12: 85,014,081	Q428*	probably null	Het
Zcrb1	T	C	15: 93,391,121	D88G	probably damaging	Het
Zmym1	A	C	4: 127,047,874	I907S	probably damaging	Het

Other mutations in Cipc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01860:Cipc	APN	12	86960273	missense	probably damaging	1.00
IGL01953:Cipc	APN	12	86952764	missense	possibly damaging	0.91
IGL02218:Cipc	APN	12	86961928	missense	probably damaging	1.00
R4596:Cipc	UTSW	12	86961954	missense	probably benign	0.01
R4651:Cipc	UTSW	12	86962090	missense	probably benign	0.00
R4652:Cipc	UTSW	12	86962090	missense	probably benign	0.00
R4696:Cipc	UTSW	12	86952940	splice site	probably benign
R4911:Cipc	UTSW	12	86952757	missense	probably benign	0.02
R5634:Cipc	UTSW	12	86952975	splice site	probably null
R6667:Cipc	UTSW	12	86962090	missense	probably benign	0.00
R8308:Cipc	UTSW	12	86962035	missense	probably benign	0.00
R9026:Cipc	UTSW	12	86952860	missense	probably damaging	0.98
R9262:Cipc	UTSW	12	86952723	nonsense	probably null
Z1176:Cipc	UTSW	12	86960337	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCAGAAACTACTTGCCCATTC -3'
(R):5'- AGGTGAAGTGTAACTGGCTG -3'

Sequencing Primer
(F):5'- AGAAACTACTTGCCCATTCTAAATTC -3'
(R):5'- GAGCTGCTCTCTAGGCCATG -3'

Posted On

2019-11-26