Mutagenetix > Incidental Mutation

Incidental Mutation 'R9408:Cic'

711653

Institutional Source

Beutler Lab

Gene Symbol

Cic

Ensembl Gene

ENSMUSG00000005442

Gene Name

capicua transcriptional repressor

Synonyms

1200010B10Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.949) question?

Stock #

R9408 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24967129-24993584 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24971414 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 382 (V382I)

Ref Sequence

ENSEMBL: ENSMUSP00000132351 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169266] [ENSMUST00000169392]

AlphaFold

Q924A2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169266
AA Change: V382I

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000132351
Gene: ENSMUSG00000005442
AA Change: V382I

Domain	Start	End	E-Value	Type
low complexity region	9	23	N/A	INTRINSIC
low complexity region	33	73	N/A	INTRINSIC
low complexity region	151	165	N/A	INTRINSIC
Pfam:DUF4819	249	346	1.8e-23	PFAM
low complexity region	351	367	N/A	INTRINSIC
low complexity region	403	427	N/A	INTRINSIC
low complexity region	445	457	N/A	INTRINSIC
low complexity region	462	475	N/A	INTRINSIC
low complexity region	618	633	N/A	INTRINSIC
low complexity region	673	685	N/A	INTRINSIC
low complexity region	724	734	N/A	INTRINSIC
low complexity region	740	751	N/A	INTRINSIC
low complexity region	779	786	N/A	INTRINSIC
low complexity region	858	883	N/A	INTRINSIC
low complexity region	898	911	N/A	INTRINSIC
PDB:4J2L\|D	930	955	5e-10	PDB
low complexity region	1013	1027	N/A	INTRINSIC
low complexity region	1031	1045	N/A	INTRINSIC
HMG	1106	1176	1.24e-17	SMART
low complexity region	1322	1338	N/A	INTRINSIC
low complexity region	1380	1393	N/A	INTRINSIC
low complexity region	1415	1428	N/A	INTRINSIC
low complexity region	1432	1462	N/A	INTRINSIC
low complexity region	1474	1490	N/A	INTRINSIC
low complexity region	1552	1567	N/A	INTRINSIC
low complexity region	1636	1647	N/A	INTRINSIC
low complexity region	1689	1710	N/A	INTRINSIC
low complexity region	1744	1766	N/A	INTRINSIC
low complexity region	1846	1858	N/A	INTRINSIC
low complexity region	1971	1986	N/A	INTRINSIC
low complexity region	2024	2038	N/A	INTRINSIC
low complexity region	2041	2061	N/A	INTRINSIC
low complexity region	2129	2159	N/A	INTRINSIC
low complexity region	2186	2219	N/A	INTRINSIC
low complexity region	2311	2324	N/A	INTRINSIC
low complexity region	2389	2400	N/A	INTRINSIC
low complexity region	2430	2453	N/A	INTRINSIC
low complexity region	2474	2509	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169392

SMART Domains

Protein: ENSMUSP00000131680
Gene: ENSMUSG00000005442

Domain	Start	End	E-Value	Type
low complexity region	9	23	N/A	INTRINSIC
low complexity region	33	73	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an ortholog of the Drosophila melanogaster capicua gene, and is a member of the high mobility group (HMG)-box superfamily of transcriptional repressors. This protein contains a conserved HMG domain that is involved in DNA binding and nuclear localization, and a conserved C-terminus. Studies suggest that the N-terminal region of this protein interacts with Atxn1 (GeneID:6310), to form a transcription repressor complex, and in vitro studies suggest that polyglutamine-expansion of ATXN1 may alter the repressor activity of this complex. Mutations in this gene have been associated with olidogdendrogliomas (PMID:21817013). In addition, translocation events resulting in gene fusions of this gene with both DUX4 (GeneID:100288687) and FOXO4 (GeneID:4303) have been associated with round cell sarcomas. There are multiple pseudogenes of this gene found on chromosomes 1, 4, 6, 7, 16, 20, and the Y chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit partial postnatal lethality, decreased body size, and severe lung alveolarization defects. [provided by MGI curators]

Allele List at MGI

All alleles(61) : Targeted, other(4) Gene trapped(57)

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	G	A	6: 128,522,030 (GRCm39)	T1264I	probably damaging	Het
Aadac	T	A	3: 59,946,986 (GRCm39)	V228E	probably benign	Het
Abca4	A	T	3: 121,931,274 (GRCm39)	R1436W	probably benign	Het
Abo	A	G	2: 26,738,287 (GRCm39)	L39S	probably benign	Het
Acnat1	T	A	4: 49,447,773 (GRCm39)	R269S	probably benign	Het
Adap2	T	C	11: 80,045,942 (GRCm39)	V74A	probably damaging	Het
Ahctf1	C	A	1: 179,603,638 (GRCm39)	A803S	possibly damaging	Het
Ak6	A	G	13: 100,792,003 (GRCm39)	S149G	probably benign	Het
Ank	T	C	15: 27,591,588 (GRCm39)	V444A	probably damaging	Het
Armt1	AC	A	10: 4,400,848 (GRCm39)		probably null	Het
Atf7	A	C	15: 102,462,286 (GRCm39)	V112G	probably damaging	Het
Brca2	A	G	5: 150,464,982 (GRCm39)	Y1582C	probably damaging	Het
Bricd5	G	T	17: 24,693,083 (GRCm39)		probably benign	Het
Bsn	C	A	9: 108,016,652 (GRCm39)	E120*	probably null	Het
Cacna1g	T	G	11: 94,321,050 (GRCm39)	N1348T	probably damaging	Het
Ccnc	T	G	4: 21,746,776 (GRCm39)		probably null	Het
Cd163	A	G	6: 124,297,497 (GRCm39)	D881G	probably benign	Het
Cep295	G	A	9: 15,244,619 (GRCm39)	P1279L	probably benign	Het
Cyp21a1	G	A	17: 35,020,860 (GRCm39)	S453F	probably damaging	Het
D16Ertd472e	A	T	16: 78,344,646 (GRCm39)	I154N	probably benign	Het
Dbf4	A	G	5: 8,447,764 (GRCm39)	V482A	possibly damaging	Het
Dchs2	G	A	3: 83,192,573 (GRCm39)	V1673M	probably benign	Het
Dctd	T	A	8: 48,590,385 (GRCm39)	C119S	probably damaging	Het
Dock1	A	G	7: 134,717,065 (GRCm39)	T1234A	probably damaging	Het
Efcab3	T	A	11: 104,621,255 (GRCm39)		probably null	Het
Eya4	A	T	10: 22,999,805 (GRCm39)	M386K		Het
Fbxw19	T	A	9: 109,315,101 (GRCm39)	M154L	probably benign	Het
Frmpd1	T	A	4: 45,279,182 (GRCm39)	S636T	probably benign	Het
Glb1l	A	T	1: 75,177,683 (GRCm39)	Y412N	probably damaging	Het
Gnb5	T	A	9: 75,218,696 (GRCm39)	L7Q	probably damaging	Het
Gpr19	C	T	6: 134,864,704 (GRCm39)	V3M	unknown	Het
Hivep2	A	G	10: 14,007,505 (GRCm39)	T1368A	probably damaging	Het
Hmx3	A	T	7: 131,146,102 (GRCm39)	Q270L	probably damaging	Het
Il1rap	A	T	16: 26,533,675 (GRCm39)	I524F	possibly damaging	Het
Mettl17	G	A	14: 52,125,491 (GRCm39)	G198D	probably damaging	Het
Mga	T	A	2: 119,765,999 (GRCm39)	I1421N	possibly damaging	Het
Myb	T	A	10: 21,026,275 (GRCm39)	Q231L	probably benign	Het
Myef2l	T	A	3: 10,154,407 (GRCm39)	M392K	probably benign	Het
Myf5	G	A	10: 107,321,527 (GRCm39)	T89I	probably damaging	Het
Nup214	T	A	2: 31,937,523 (GRCm39)	L1999Q	probably damaging	Het
Or10aa3	T	C	1: 173,878,329 (GRCm39)	L130P		Het
Or1ad6	T	A	11: 50,860,613 (GRCm39)	L256Q	probably damaging	Het
Or4a76	A	G	2: 89,460,388 (GRCm39)	Y285H	probably damaging	Het
Or51t4	A	T	7: 102,598,443 (GRCm39)	H257L	probably damaging	Het
Or5w19	G	A	2: 87,698,379 (GRCm39)	G15R	probably damaging	Het
Or7a36	A	G	10: 78,820,220 (GRCm39)	M199V	probably benign	Het
Otog	A	T	7: 45,916,721 (GRCm39)	D886V	possibly damaging	Het
Pde7a	A	C	3: 19,287,958 (GRCm39)	V237G	possibly damaging	Het
Pigs	T	C	11: 78,230,213 (GRCm39)	Y327H	probably damaging	Het
Pkd2l2	T	C	18: 34,563,383 (GRCm39)	V478A	probably damaging	Het
Pnrc1	C	A	4: 33,246,488 (GRCm39)	G157V	probably damaging	Het
Poglut1	G	T	16: 38,347,137 (GRCm39)	S343R	probably benign	Het
Ppwd1	A	G	13: 104,346,155 (GRCm39)	M500T	possibly damaging	Het
Pyy	C	T	11: 101,998,111 (GRCm39)	G23E	probably damaging	Het
Ripor3	T	A	2: 167,831,238 (GRCm39)	D521V	probably benign	Het
Rnpepl1	T	C	1: 92,845,424 (GRCm39)	S448P	probably benign	Het
Sash1	G	A	10: 8,637,994 (GRCm39)		probably benign	Het
Sbf2	T	C	7: 110,040,702 (GRCm39)	Q375R	possibly damaging	Het
Synj1	C	T	16: 90,741,740 (GRCm39)	C1252Y	probably benign	Het
Tenm2	A	T	11: 35,960,246 (GRCm39)	L1027Q	probably damaging	Het
Tep1	A	G	14: 51,074,637 (GRCm39)	V1796A	possibly damaging	Het
Timp3	A	T	10: 86,136,782 (GRCm39)	E22V	possibly damaging	Het
Tlk1	A	C	2: 70,617,219 (GRCm39)		probably null	Het
Tmco1	C	A	1: 167,141,700 (GRCm39)	T69K		Het
Topaz1	T	A	9: 122,626,728 (GRCm39)	M1452K	probably benign	Het
Tsc22d2	T	C	3: 58,367,453 (GRCm39)	Y668H	unknown	Het
Uri1	A	T	7: 37,669,031 (GRCm39)	D153E	probably benign	Het
Vmn1r169	A	T	7: 23,277,342 (GRCm39)	T245S	probably damaging	Het
Vmn1r60	A	G	7: 5,547,918 (GRCm39)	Y61H		Het
Zfp541	A	T	7: 15,806,139 (GRCm39)	E91D	probably damaging	Het
Zfp946	A	G	17: 22,673,569 (GRCm39)	N108D	possibly damaging	Het
Zpr1	T	C	9: 46,186,747 (GRCm39)	L194P	probably damaging	Het
Zzef1	T	A	11: 72,755,653 (GRCm39)	N1027K	possibly damaging	Het

Other mutations in Cic

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Cic	APN	7	24,991,549 (GRCm39)	missense	probably damaging	1.00
IGL01668:Cic	APN	7	24,990,629 (GRCm39)	missense	possibly damaging	0.47
IGL02229:Cic	APN	7	24,990,375 (GRCm39)	missense	probably damaging	0.96
IGL02506:Cic	APN	7	24,990,282 (GRCm39)	missense	probably benign
IGL02794:Cic	APN	7	24,985,069 (GRCm39)	missense	probably damaging	1.00
IGL03065:Cic	APN	7	24,985,246 (GRCm39)	splice site	probably benign
IGL03304:Cic	APN	7	24,984,274 (GRCm39)	missense	probably damaging	1.00
Capuccino	UTSW	7	24,986,565 (GRCm39)	missense	probably damaging	0.98
Cassock	UTSW	7	24,988,338 (GRCm39)	nonsense	probably null
Monkey	UTSW	7	24,986,566 (GRCm39)	missense	probably damaging	1.00
R4850_Cic_466	UTSW	7	24,972,327 (GRCm39)	missense	probably damaging	0.98
1mM(1):Cic	UTSW	7	24,990,214 (GRCm39)	splice site	probably benign
IGL03046:Cic	UTSW	7	24,990,500 (GRCm39)	missense	probably damaging	1.00
R0012:Cic	UTSW	7	24,986,566 (GRCm39)	missense	probably damaging	1.00
R0012:Cic	UTSW	7	24,986,565 (GRCm39)	missense	probably damaging	0.98
R0027:Cic	UTSW	7	24,986,566 (GRCm39)	missense	probably damaging	1.00
R0027:Cic	UTSW	7	24,986,565 (GRCm39)	missense	probably damaging	0.98
R0038:Cic	UTSW	7	24,986,566 (GRCm39)	missense	probably damaging	1.00
R0038:Cic	UTSW	7	24,986,565 (GRCm39)	missense	probably damaging	0.98
R0063:Cic	UTSW	7	24,986,566 (GRCm39)	missense	probably damaging	1.00
R0063:Cic	UTSW	7	24,986,565 (GRCm39)	missense	probably damaging	0.98
R0064:Cic	UTSW	7	24,986,566 (GRCm39)	missense	probably damaging	1.00
R0064:Cic	UTSW	7	24,986,565 (GRCm39)	missense	probably damaging	0.98
R0118:Cic	UTSW	7	24,985,459 (GRCm39)	missense	probably damaging	1.00
R0193:Cic	UTSW	7	24,986,566 (GRCm39)	missense	probably damaging	1.00
R0193:Cic	UTSW	7	24,986,565 (GRCm39)	missense	probably damaging	0.98
R0241:Cic	UTSW	7	24,986,566 (GRCm39)	missense	probably damaging	1.00
R0241:Cic	UTSW	7	24,986,565 (GRCm39)	missense	probably damaging	0.98
R0377:Cic	UTSW	7	24,985,224 (GRCm39)	missense	probably damaging	0.98
R0462:Cic	UTSW	7	24,986,565 (GRCm39)	missense	probably damaging	0.98
R0462:Cic	UTSW	7	24,986,566 (GRCm39)	missense	probably damaging	1.00
R0800:Cic	UTSW	7	24,984,662 (GRCm39)	missense	probably benign
R1253:Cic	UTSW	7	24,990,373 (GRCm39)	missense	probably damaging	1.00
R1458:Cic	UTSW	7	24,979,162 (GRCm39)	intron	probably benign
R1462:Cic	UTSW	7	24,971,032 (GRCm39)	missense	probably damaging	0.98
R1462:Cic	UTSW	7	24,971,032 (GRCm39)	missense	probably damaging	0.98
R1519:Cic	UTSW	7	24,993,235 (GRCm39)	critical splice acceptor site	probably null
R1586:Cic	UTSW	7	24,985,386 (GRCm39)	missense	probably damaging	1.00
R1824:Cic	UTSW	7	24,987,691 (GRCm39)	missense	probably damaging	1.00
R1908:Cic	UTSW	7	24,986,265 (GRCm39)	missense	probably damaging	1.00
R2045:Cic	UTSW	7	24,970,961 (GRCm39)	missense	possibly damaging	0.53
R2063:Cic	UTSW	7	24,972,876 (GRCm39)	missense	probably damaging	0.98
R2161:Cic	UTSW	7	24,987,559 (GRCm39)	splice site	probably null
R2495:Cic	UTSW	7	24,991,201 (GRCm39)	splice site	probably benign
R2865:Cic	UTSW	7	24,972,646 (GRCm39)	missense	probably damaging	0.96
R3692:Cic	UTSW	7	24,988,338 (GRCm39)	nonsense	probably null
R3709:Cic	UTSW	7	24,986,406 (GRCm39)	missense	probably damaging	0.99
R3710:Cic	UTSW	7	24,986,406 (GRCm39)	missense	probably damaging	0.99
R3872:Cic	UTSW	7	24,971,124 (GRCm39)	missense	possibly damaging	0.92
R3946:Cic	UTSW	7	24,971,771 (GRCm39)	missense	possibly damaging	0.93
R4199:Cic	UTSW	7	24,991,095 (GRCm39)	frame shift	probably null
R4426:Cic	UTSW	7	24,993,433 (GRCm39)	utr 3 prime	probably benign
R4502:Cic	UTSW	7	24,987,892 (GRCm39)	missense	probably damaging	1.00
R4585:Cic	UTSW	7	24,972,203 (GRCm39)	missense	probably benign	0.33
R4586:Cic	UTSW	7	24,972,203 (GRCm39)	missense	probably benign	0.33
R4614:Cic	UTSW	7	24,991,095 (GRCm39)	frame shift	probably null
R4664:Cic	UTSW	7	24,990,099 (GRCm39)	small deletion	probably benign
R4688:Cic	UTSW	7	24,991,095 (GRCm39)	frame shift	probably null
R4695:Cic	UTSW	7	24,973,013 (GRCm39)	missense	possibly damaging	0.72
R4696:Cic	UTSW	7	24,987,908 (GRCm39)	missense	probably benign
R4746:Cic	UTSW	7	24,987,905 (GRCm39)	missense	probably damaging	1.00
R4758:Cic	UTSW	7	24,991,636 (GRCm39)	missense	possibly damaging	0.62
R4767:Cic	UTSW	7	24,971,025 (GRCm39)	missense	possibly damaging	0.92
R4776:Cic	UTSW	7	24,982,308 (GRCm39)	missense	possibly damaging	0.95
R4820:Cic	UTSW	7	24,971,157 (GRCm39)	missense	possibly damaging	0.92
R4850:Cic	UTSW	7	24,972,327 (GRCm39)	missense	probably damaging	0.98
R4851:Cic	UTSW	7	24,972,327 (GRCm39)	missense	probably damaging	0.98
R4922:Cic	UTSW	7	24,991,095 (GRCm39)	small insertion	probably benign
R4989:Cic	UTSW	7	24,986,535 (GRCm39)	missense	probably damaging	1.00
R5131:Cic	UTSW	7	24,991,095 (GRCm39)	small insertion	probably benign
R5718:Cic	UTSW	7	24,972,203 (GRCm39)	missense	probably benign	0.33
R5801:Cic	UTSW	7	24,970,863 (GRCm39)	missense	possibly damaging	0.93
R5949:Cic	UTSW	7	24,971,730 (GRCm39)	missense	probably damaging	1.00
R6000:Cic	UTSW	7	24,971,423 (GRCm39)	missense	probably benign	0.33
R6246:Cic	UTSW	7	24,971,067 (GRCm39)	missense	probably damaging	1.00
R6283:Cic	UTSW	7	24,985,459 (GRCm39)	missense	probably damaging	1.00
R6364:Cic	UTSW	7	24,972,248 (GRCm39)	missense	possibly damaging	0.72
R6481:Cic	UTSW	7	24,987,706 (GRCm39)	missense	possibly damaging	0.56
R6919:Cic	UTSW	7	24,971,202 (GRCm39)	missense	probably benign	0.04
R6920:Cic	UTSW	7	24,990,107 (GRCm39)	missense	probably damaging	1.00
R6995:Cic	UTSW	7	24,970,736 (GRCm39)	missense	possibly damaging	0.53
R7002:Cic	UTSW	7	24,971,621 (GRCm39)	missense	probably damaging	0.99
R7113:Cic	UTSW	7	24,972,869 (GRCm39)	missense	probably benign	0.08
R7560:Cic	UTSW	7	24,972,278 (GRCm39)	missense	probably damaging	0.98
R7680:Cic	UTSW	7	24,991,856 (GRCm39)	missense	probably damaging	0.96
R7698:Cic	UTSW	7	24,972,597 (GRCm39)	missense	possibly damaging	0.72
R7746:Cic	UTSW	7	24,988,207 (GRCm39)	missense	probably damaging	1.00
R7841:Cic	UTSW	7	24,985,192 (GRCm39)	missense	probably damaging	1.00
R7879:Cic	UTSW	7	24,984,551 (GRCm39)	missense	probably benign	0.10
R7916:Cic	UTSW	7	24,987,715 (GRCm39)	missense	probably damaging	0.99
R7920:Cic	UTSW	7	24,971,384 (GRCm39)	missense	probably benign
R8056:Cic	UTSW	7	24,990,366 (GRCm39)	missense	possibly damaging	0.90
R8226:Cic	UTSW	7	24,987,213 (GRCm39)	missense	probably damaging	1.00
R8281:Cic	UTSW	7	24,971,249 (GRCm39)	missense	probably benign
R8847:Cic	UTSW	7	24,970,631 (GRCm39)	missense	probably damaging	0.98
R8991:Cic	UTSW	7	24,988,885 (GRCm39)	missense	probably damaging	1.00
R9083:Cic	UTSW	7	24,985,470 (GRCm39)	missense	probably damaging	0.99
R9140:Cic	UTSW	7	24,985,165 (GRCm39)	missense	probably damaging	0.99
R9200:Cic	UTSW	7	24,971,940 (GRCm39)	missense	probably damaging	0.99
R9208:Cic	UTSW	7	24,987,502 (GRCm39)	missense	probably benign	0.07
R9301:Cic	UTSW	7	24,991,117 (GRCm39)	missense	probably damaging	1.00
R9569:Cic	UTSW	7	24,972,120 (GRCm39)	missense	possibly damaging	0.85
R9752:Cic	UTSW	7	24,971,403 (GRCm39)	missense	probably damaging	0.96
V7732:Cic	UTSW	7	24,991,670 (GRCm39)	missense	probably benign
Z1176:Cic	UTSW	7	24,970,444 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- AACAGACACTGCACCGTGAG -3'
(R):5'- AACTTCTTTCGGATGCCATTG -3'

Sequencing Primer
(F):5'- ACTGCACCGTGAGCCTGAG -3'
(R):5'- TGAGGCCACACTGCTACTG -3'

Posted On

2022-05-16