Mutagenetix > Incidental Mutation

Incidental Mutation 'R7002:Cic'

544599

Institutional Source

Beutler Lab

Gene Symbol

Cic

Ensembl Gene

ENSMUSG00000005442

Gene Name

capicua transcriptional repressor

Synonyms

1200010B10Rik

MMRRC Submission

045107-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.949) question?

Stock #

R7002 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24967129-24993584 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 24971621 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 451 (R451C)

Ref Sequence

ENSEMBL: ENSMUSP00000132351 (fasta)

Gene Model

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

AlphaFold

Q924A2

Predicted Effect

probably damaging
Transcript: ENSMUST00000169266
AA Change: R451C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000132351
Gene: ENSMUSG00000005442
AA Change: R451C

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (73/73)

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
Abca8b	A	G	11: 109,832,390 (GRCm39)	S1308P	probably damaging	Het
Abl2	A	T	1: 156,386,703 (GRCm39)	R29W	probably damaging	Het
Adam6b	C	A	12: 113,453,327 (GRCm39)	S48*	probably null	Het
Adamts18	T	A	8: 114,501,922 (GRCm39)	D313V	possibly damaging	Het
Aoc1	A	G	6: 48,882,810 (GRCm39)	S229G	probably benign	Het
Apol10a	G	A	15: 77,369,046 (GRCm39)	R15H	possibly damaging	Het
Bend4	T	A	5: 67,555,602 (GRCm39)	T535S	probably benign	Het
Blm	T	C	7: 80,119,501 (GRCm39)	K1024R	probably benign	Het
Brca2	T	C	5: 150,463,383 (GRCm39)	V1049A	probably benign	Het
Cerk	T	C	15: 86,040,795 (GRCm39)	Y188C	possibly damaging	Het
Col18a1	A	T	10: 77,002,177 (GRCm39)	V10E	unknown	Het
Cplx1	T	A	5: 108,668,182 (GRCm39)	K58M	probably damaging	Het
Crybg1	T	A	10: 43,874,831 (GRCm39)	D759V	probably damaging	Het
Cwc25	A	T	11: 97,638,897 (GRCm39)	N342K	probably damaging	Het
Dab2	A	T	15: 6,464,846 (GRCm39)	T566S	probably benign	Het
Depdc5	G	A	5: 33,034,502 (GRCm39)		probably null	Het
Dip2b	T	A	15: 100,058,346 (GRCm39)	N408K	probably benign	Het
Dnah12	T	C	14: 26,598,955 (GRCm39)	I3631T	probably damaging	Het
Dnase1	A	G	16: 3,857,410 (GRCm39)	I236V	possibly damaging	Het
Duox1	C	T	2: 122,150,358 (GRCm39)	Q196*	probably null	Het
Eef2k	G	A	7: 120,491,155 (GRCm39)	R547Q	probably benign	Het
Erich5	C	T	15: 34,471,508 (GRCm39)	L246F	probably damaging	Het
Frmpd1	C	T	4: 45,284,200 (GRCm39)	A1007V	probably benign	Het
Fsip2	T	A	2: 82,819,687 (GRCm39)	I5140N	possibly damaging	Het
Gan	T	C	8: 117,922,586 (GRCm39)	C440R	possibly damaging	Het
Garnl3	T	A	2: 32,944,205 (GRCm39)	H73L	possibly damaging	Het
Gid8	T	G	2: 180,355,096 (GRCm39)	M34R	possibly damaging	Het
Gjd4	C	A	18: 9,280,960 (GRCm39)	L39F	possibly damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Grhpr	T	C	4: 44,990,427 (GRCm39)	S306P	probably damaging	Het
H2bc21	A	G	3: 96,128,689 (GRCm39)	I70V	probably benign	Het
Hdac4	T	G	1: 91,896,083 (GRCm39)	K729T	possibly damaging	Het
Igfbp2	C	T	1: 72,888,804 (GRCm39)	H85Y	probably damaging	Het
Igkv4-61	T	G	6: 69,394,373 (GRCm39)	I13L	probably benign	Het
Il18r1	G	A	1: 40,514,013 (GRCm39)	S73N	probably benign	Het
Immt	T	C	6: 71,838,024 (GRCm39)	V244A	probably damaging	Het
Irs1	T	C	1: 82,265,981 (GRCm39)	Y745C	probably benign	Het
Itpr3	T	C	17: 27,329,554 (GRCm39)	V1526A	probably benign	Het
Jrkl	A	T	9: 13,245,526 (GRCm39)	I45K	probably damaging	Het
Lamp3	G	T	16: 19,474,172 (GRCm39)	Q401K	possibly damaging	Het
Lrrfip1	T	A	1: 91,043,180 (GRCm39)	H528Q	probably benign	Het
Ltn1	A	T	16: 87,220,361 (GRCm39)	D245E	probably benign	Het
Mmut	T	A	17: 41,252,274 (GRCm39)	I272N	possibly damaging	Het
Mnat1	T	C	12: 73,277,479 (GRCm39)		probably benign	Het
Mprip	A	C	11: 59,652,016 (GRCm39)	M1907L	probably benign	Het
Nfu1	C	A	6: 86,993,254 (GRCm39)	H131Q	probably benign	Het
Nup188	T	A	2: 30,213,580 (GRCm39)	S670R	probably damaging	Het
Or5b120	A	G	19: 13,480,039 (GRCm39)	N111D	probably benign	Het
Or8k40	T	C	2: 86,585,025 (GRCm39)	D19G	probably benign	Het
Pals2	C	T	6: 50,139,642 (GRCm39)	P116L	probably benign	Het
Parp4	T	A	14: 56,839,861 (GRCm39)	V523E	probably damaging	Het
Pbrm1	T	A	14: 30,786,777 (GRCm39)	D631E	probably benign	Het
Prss40	A	T	1: 34,591,481 (GRCm39)		probably null	Het
Rnf13	A	G	3: 57,741,033 (GRCm39)	N274S	probably damaging	Het
Rtl1	T	A	12: 109,560,381 (GRCm39)	Y486F	probably damaging	Het
Sec14l3	A	T	11: 4,025,263 (GRCm39)	H291L	possibly damaging	Het
Senp5	A	G	16: 31,802,593 (GRCm39)	S532P	probably damaging	Het
Sepsecs	T	C	5: 52,804,550 (GRCm39)		probably null	Het
Serpina1e	T	C	12: 103,914,338 (GRCm39)	I329V	probably benign	Het
Slc10a4-ps	T	A	5: 72,743,763 (GRCm39)		probably null	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 127,115,773 (GRCm39)		unknown	Het
Smc5	A	G	19: 23,209,247 (GRCm39)	V639A	probably benign	Het
Speg	T	A	1: 75,399,912 (GRCm39)	V2453E	probably damaging	Het
Syt2	T	A	1: 134,671,842 (GRCm39)	F207I	probably damaging	Het
Tchp	C	T	5: 114,846,857 (GRCm39)	S48L	probably benign	Het
Trim12a	A	G	7: 103,953,383 (GRCm39)	S243P	possibly damaging	Het
Ttn	T	C	2: 76,628,561 (GRCm39)	E14533G	probably damaging	Het
Vmn1r50	T	A	6: 90,084,819 (GRCm39)	M188K	probably benign	Het
Vps11	G	A	9: 44,266,376 (GRCm39)	T437I	probably damaging	Het
Xrn1	C	T	9: 95,929,843 (GRCm39)	T1498I	probably benign	Het
Zfp236	A	G	18: 82,709,701 (GRCm39)		probably null	Het
Zfp316	T	C	5: 143,249,110 (GRCm39)	D175G	unknown	Het
Zmynd11	A	G	13: 9,744,366 (GRCm39)	L256P	probably 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
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
R9408:Cic	UTSW	7	24,971,414 (GRCm39)	missense	possibly damaging	0.70
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'- TGAGGATGCTGAGGTCTCCAAC -3'
(R):5'- GACTCCTTCATGCAGCCATC -3'

Sequencing Primer
(F):5'- AGGTCTCCAACATCAGCTTTGGTAG -3'
(R):5'- TTCATGCAGCCATCCCGAGAG -3'

Posted On

2019-05-13