Mutagenetix > Incidental Mutation

Incidental Mutation 'R7698:Cic'

593778

Institutional Source

Beutler Lab

Gene Symbol

Cic

Ensembl Gene

ENSMUSG00000005442

Gene Name

capicua transcriptional repressor

Synonyms

1200010B10Rik

MMRRC Submission

045759-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.949) question?

Stock #

R7698 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24967129-24993584 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24972597 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 776 (Q776L)

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: Q776L

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000132351
Gene: ENSMUSG00000005442
AA Change: Q776L

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: 99.7%
20x: 99.2%

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
A630023A22Rik	C	A	14: 33,774,570 (GRCm39)	L140F	unknown	Het
Actn1	T	C	12: 80,221,311 (GRCm39)	T581A	probably benign	Het
Ak9	T	C	10: 41,224,072 (GRCm39)	L495S		Het
Aldh5a1	T	C	13: 25,095,731 (GRCm39)	D462G	probably damaging	Het
Amz2	A	G	11: 109,319,833 (GRCm39)	D73G	probably damaging	Het
Ank2	A	G	3: 126,825,860 (GRCm39)	Y361H	probably benign	Het
Atp8b1	A	G	18: 64,704,093 (GRCm39)	Y342H	probably benign	Het
Atp8b5	C	T	4: 43,366,735 (GRCm39)	T833I	probably benign	Het
Camkk2	A	G	5: 122,884,482 (GRCm39)	I313T	probably damaging	Het
Cdk18	T	C	1: 132,050,116 (GRCm39)	T20A	probably damaging	Het
Cenpf	A	T	1: 189,394,269 (GRCm39)	C479S	probably benign	Het
Cfap221	C	A	1: 119,889,659 (GRCm39)	E192*	probably null	Het
Cfap44	C	T	16: 44,254,149 (GRCm39)	H958Y	probably damaging	Het
Cldn17	C	A	16: 88,303,244 (GRCm39)	G162*	probably null	Het
Col19a1	T	A	1: 24,351,159 (GRCm39)	Y748F	probably benign	Het
Col27a1	C	T	4: 63,143,955 (GRCm39)	P548S	possibly damaging	Het
Cracdl	T	G	1: 37,664,452 (GRCm39)	E482A	probably benign	Het
Ctsr	T	A	13: 61,310,381 (GRCm39)	M92L	probably benign	Het
Cyp2d12	T	C	15: 82,443,171 (GRCm39)	V360A	probably benign	Het
Defa34	G	T	8: 22,156,645 (GRCm39)	C91F	probably damaging	Het
Dennd2c	G	A	3: 103,072,359 (GRCm39)	V815I	possibly damaging	Het
Dlgap4	C	T	2: 156,591,015 (GRCm39)	Q734*	probably null	Het
Dph1	A	T	11: 75,081,267 (GRCm39)	S7T	probably benign	Het
Dpp8	T	C	9: 64,949,618 (GRCm39)	V121A	probably benign	Het
Dst	G	A	1: 34,229,468 (GRCm39)	G2354S	probably benign	Het
Duox2	A	T	2: 122,111,245 (GRCm39)	L1453Q	probably damaging	Het
Ecpas	C	G	4: 58,832,660 (GRCm39)	C900S	unknown	Het
Exosc10	T	A	4: 148,642,955 (GRCm39)	S11T	probably benign	Het
Fetub	A	G	16: 22,758,059 (GRCm39)	T281A	probably benign	Het
Flii	A	T	11: 60,610,918 (GRCm39)	W504R	probably damaging	Het
Gm5093	T	C	17: 46,750,866 (GRCm39)	R54G	possibly damaging	Het
Gmcl1	T	C	6: 86,684,397 (GRCm39)	D375G	probably benign	Het
Hikeshi	A	T	7: 89,572,889 (GRCm39)	N101K	probably benign	Het
Hmcn2	T	C	2: 31,313,165 (GRCm39)	V3458A	probably damaging	Het
Hspa2	A	G	12: 76,452,083 (GRCm39)	N259S	possibly damaging	Het
Irf6	T	C	1: 192,844,075 (GRCm39)	I110T	probably damaging	Het
Kcnj8	T	A	6: 142,511,479 (GRCm39)	H376L	probably damaging	Het
Kdm6b	G	A	11: 69,296,807 (GRCm39)	P487S	probably benign	Het
Lcp1	C	A	14: 75,443,651 (GRCm39)	Y222*	probably null	Het
Manea	T	C	4: 26,327,763 (GRCm39)	D426G	probably damaging	Het
Map3k20	G	T	2: 72,195,025 (GRCm39)	E101*	probably null	Het
Map3k20	C	G	2: 72,268,658 (GRCm39)	S555C	probably benign	Het
Mtmr7	G	A	8: 41,059,927 (GRCm39)	A62V	possibly damaging	Het
Myo6	C	T	9: 80,124,938 (GRCm39)	P6S	unknown	Het
Myoc	A	T	1: 162,467,014 (GRCm39)	Q61L	probably damaging	Het
N4bp2	T	A	5: 65,965,500 (GRCm39)	M1183K	probably benign	Het
Or52e7	T	A	7: 104,685,114 (GRCm39)	H236Q	probably benign	Het
Or5b114-ps1	T	C	19: 13,352,404 (GRCm39)	F26S	probably damaging	Het
Or5b21	T	C	19: 12,840,077 (GRCm39)	S313P	possibly damaging	Het
Or8b40	T	A	9: 38,027,188 (GRCm39)	L37*	probably null	Het
Osbpl11	C	G	16: 33,054,817 (GRCm39)	N633K	probably benign	Het
Pate7	T	C	9: 35,688,472 (GRCm39)	M38V	probably benign	Het
Pcdhgb5	A	G	18: 37,865,684 (GRCm39)	E493G	probably damaging	Het
Phf20	T	A	2: 156,136,058 (GRCm39)	W626R	probably damaging	Het
Pkp2	C	A	16: 16,058,523 (GRCm39)	Q402K	probably benign	Het
Plch2	C	T	4: 155,087,244 (GRCm39)	D336N	possibly damaging	Het
Plk1	T	C	7: 121,768,481 (GRCm39)	F535L	probably damaging	Het
Ppp1r9a	A	T	6: 4,906,430 (GRCm39)	E328D	probably benign	Het
Prss44	G	A	9: 110,646,379 (GRCm39)	V369M	probably benign	Het
Rilp	A	G	11: 75,401,798 (GRCm39)	S193G	probably benign	Het
Rusc2	C	T	4: 43,414,900 (GRCm39)	Q69*	probably null	Het
Ryr2	T	C	13: 11,776,201 (GRCm39)	D1112G	possibly damaging	Het
Smc6	A	G	12: 11,333,141 (GRCm39)	R238G	possibly damaging	Het
Spen	A	G	4: 141,200,156 (GRCm39)	S2824P	probably damaging	Het
Stk4	T	C	2: 163,925,663 (GRCm39)	M77T	probably damaging	Het
Syne2	A	T	12: 75,995,838 (GRCm39)	H2126L	probably damaging	Het
Thsd1	C	T	8: 22,749,003 (GRCm39)	R625*	probably null	Het
Tle3	A	T	9: 61,320,138 (GRCm39)	N522I	probably damaging	Het
Tmcc1	C	A	6: 116,020,763 (GRCm39)	E230*	probably null	Het
Vmn2r90	T	C	17: 17,953,596 (GRCm39)	S587P	probably benign	Het
Wt1	A	T	2: 104,957,161 (GRCm39)	Q7L	probably benign	Het
Zfhx2	T	C	14: 55,300,306 (GRCm39)	I2482V	probably benign	Het
Zfpm2	A	T	15: 40,959,487 (GRCm39)	I189F	probably benign	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
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'- TACTGTGCCCATTAGCCCTG -3'
(R):5'- TAGCTGCTCGGCACTAGAAC -3'

Sequencing Primer
(F):5'- GAACTGCTGCCCCATCCAG -3'
(R):5'- TCGGCACTAGAACTGGCAAC -3'

Posted On

2019-11-12