Mutagenetix > Incidental Mutation

Incidental Mutation 'R6667:Cipc'

527032

Institutional Source

Beutler Lab

Gene Symbol

Cipc

Ensembl Gene

ENSMUSG00000034157

Gene Name

CLOCK interacting protein, circadian

Synonyms

2310044G17Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R6667 (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 86962090 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 241 (V241A)

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

probably benign
Transcript: ENSMUST00000038369
AA Change: V220A

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

SMART Domains

Protein: ENSMUSP00000038630
Gene: ENSMUSG00000034157
AA Change: V220A

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

probably benign
Transcript: ENSMUST00000187814
AA Change: V241A

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

SMART Domains

Protein: ENSMUSP00000141049
Gene: ENSMUSG00000034157
AA Change: V241A

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 benign
Transcript: ENSMUST00000189246
AA Change: V220A

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

SMART Domains

Protein: ENSMUSP00000140266
Gene: ENSMUSG00000034157
AA Change: V220A

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

probably benign
Transcript: ENSMUST00000191463
AA Change: V238A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000140683
Gene: ENSMUSG00000034157
AA Change: V238A

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

Meta Mutation Damage Score

0.0597

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

98% (41/42)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	G	T	4: 124,610,642	A39E	probably damaging	Het
Agtr1b	T	A	3: 20,315,749	N231I	possibly damaging	Het
Alpk2	T	C	18: 65,307,740	E661G	probably damaging	Het
Ankrd26	C	T	6: 118,507,788	S1496N	probably benign	Het
Asah2	T	C	19: 31,995,358	N659S	probably benign	Het
Atp12a	T	C	14: 56,384,188	V760A	possibly damaging	Het
Casp2	T	C	6: 42,279,836	C343R	probably damaging	Het
Cblb	T	A	16: 52,152,644	M446K	possibly damaging	Het
Ddit4l	A	G	3: 137,626,121	K83E	probably benign	Het
E430018J23Rik	A	G	7: 127,393,423	M5T	probably benign	Het
Epc2	A	G	2: 49,522,669	T220A	probably damaging	Het
Epha5	T	C	5: 84,071,191	D741G	probably damaging	Het
Flg2	A	T	3: 93,201,761	R365S	possibly damaging	Het
Ggn	A	T	7: 29,172,668	H491L	possibly damaging	Het
Gm21119	T	C	8: 20,621,939	S267P	probably benign	Het
Gm8332	A	T	12: 88,249,705	D132E	unknown	Het
Gpat2	G	C	2: 127,431,918	G294R	possibly damaging	Het
Ighv6-4	A	G	12: 114,406,532	V100A	probably benign	Het
Invs	A	T	4: 48,402,870	Y501F	possibly damaging	Het
Iqcm	G	T	8: 75,753,352	G313W	probably damaging	Het
Jph2	A	G	2: 163,376,286	S157P	probably damaging	Het
Mast4	T	C	13: 102,737,496	E1596G	probably damaging	Het
Mllt6	T	A	11: 97,676,934	L759Q	probably damaging	Het
Nalcn	A	G	14: 123,321,323	L837P	probably damaging	Het
Neb	G	A	2: 52,147,189	T6836I	probably damaging	Het
Nol12	T	A	15: 78,940,080	D133E	probably benign	Het
Olfr1136	A	G	2: 87,693,570	V104A	probably benign	Het
Oxtr	C	A	6: 112,477,099		probably benign	Het
Pcmt1	A	G	10: 7,663,149	L38P	probably damaging	Het
Pik3r2	T	C	8: 70,769,173	Y617C	probably damaging	Het
Prl7a2	T	C	13: 27,661,041	N121D	probably benign	Het
Pvr	G	T	7: 19,905,802	Q380K	probably benign	Het
Rtn2	A	G	7: 19,287,259	E188G	probably benign	Het
Setd4	C	A	16: 93,590,030	R260L	probably benign	Het
Six5	A	G	7: 19,096,569	N374D	probably benign	Het
Slc9b1	T	C	3: 135,371,965	I140T	probably damaging	Het
Supt16	A	G	14: 52,172,063	F797L	probably damaging	Het
Tbata	T	C	10: 61,185,363	L262P	probably damaging	Het
Tti1	A	T	2: 158,008,427	C297*	probably null	Het
Ush1c	C	A	7: 46,225,624	G139C	probably damaging	Het
Vmn1r1	C	T	1: 182,157,777	V108I	probably benign	Het
Vmn2r116	C	T	17: 23,401,092	T600I	probably damaging	Het
Zfp873	A	G	10: 82,060,589	T422A	probably benign	Het
Zfp943	G	A	17: 21,992,908	C325Y	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
R7807:Cipc	UTSW	12	86962125	missense	possibly damaging	0.72
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'- TGTCAGCTCATGCCAGACTG -3'
(R):5'- ATGCAGAGTGCTGTCTGAC -3'

Sequencing Primer
(F):5'- AGCTCATGCCAGACTGGTGAG -3'
(R):5'- AGAGTGCTGTCTGACGCACAC -3'

Posted On

2018-07-23